OrphaCode,DiseaseName,GeneSymbol,GeneName,AssociationType,AssociationStatus
166024,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,KIF7,kinesin family member 7,Disease-causing germline mutation(s) in,Assessed
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,CWC27,CWC27 spliceosome associated cyclophilin,Disease-causing germline mutation(s) in,Assessed
93,Aspartylglucosaminuria,AGA,aspartylglucosaminidase,Disease-causing germline mutation(s) in,Assessed
585,Multiple sulfatase deficiency,SUMF1,sulfatase modifying factor 1,Disease-causing germline mutation(s) in,Assessed
118,Beta-mannosidosis,MANBA,mannosidase beta,Disease-causing germline mutation(s) in,Assessed
166063,Pontocerebellar hypoplasia type 4,TSEN54,tRNA splicing endonuclease subunit 54,Disease-causing germline mutation(s) in,Assessed
166078,Von Willebrand disease type 1,VWF,von Willebrand factor,Disease-causing germline mutation(s) in,Assessed
166073,Pontocerebellar hypoplasia type 6,RARS2,"arginyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
166084,Von Willebrand disease type 2A,VWF,von Willebrand factor,Disease-causing germline mutation(s) in,Assessed
333,Farber disease,ASAH1,N-acylsphingosine amidohydrolase 1,Disease-causing germline mutation(s) in,Assessed
349,Fucosidosis,FUCA1,alpha-L-fucosidase 1,Disease-causing germline mutation(s) in,Assessed
166090,Von Willebrand disease type 2M,VWF,von Willebrand factor,Disease-causing germline mutation(s) in,Assessed
166087,Von Willebrand disease type 2B,VWF,von Willebrand factor,Disease-causing germline mutation(s) in,Assessed
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,AGL,"amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase",Disease-causing germline mutation(s) in,Assessed
166093,Von Willebrand disease type 2N,VWF,von Willebrand factor,Disease-causing germline mutation(s) in,Assessed
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,PYGM,"glycogen phosphorylase, muscle associated",Disease-causing germline mutation(s) in,Assessed
166096,Von Willebrand disease type 3,VWF,von Willebrand factor,Disease-causing germline mutation(s) in,Assessed
166100,Autosomal dominant otospondylomegaepiphyseal dysplasia,COL2A1,collagen type II alpha 1 chain,Candidate gene tested in,Not yet assessed
166100,Autosomal dominant otospondylomegaepiphyseal dysplasia,COL11A2,collagen type XI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,PFKM,"phosphofructokinase, muscle",Disease-causing germline mutation(s) in,Assessed
166105,FASTKD2-related infantile mitochondrial encephalomyopathy,FASTKD2,FAST kinase domains 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,PYGL,glycogen phosphorylase L,Disease-causing germline mutation(s) in,Assessed
447,Paroxysmal nocturnal hemoglobinuria,PIGA,phosphatidylinositol glycan anchor biosynthesis class A,Disease-causing somatic mutation(s) in,Assessed
166108,Birk-Barel syndrome,KCNK9,potassium two pore domain channel subfamily K member 9,Disease-causing germline mutation(s) in,Assessed
166119,Isolated osteopoikilosis,LEMD3,LEM domain containing 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
166260,Dentinogenesis imperfecta type 2,DSPP,dentin sialophosphoprotein,Disease-causing germline mutation(s) in,Assessed
166265,Dentinogenesis imperfecta type 3,DSPP,dentin sialophosphoprotein,Disease-causing germline mutation(s) in,Assessed
166272,Odontochondrodysplasia,TRIP11,thyroid hormone receptor interactor 11,Disease-causing germline mutation(s) in,Assessed
576,Mucolipidosis type II,GNPTAB,N-acetylglucosamine-1-phosphate transferase subunits alpha and beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
812,Sialidosis type 1,NEU1,neuraminidase 1,Disease-causing germline mutation(s) in,Assessed
166282,Hereditary sick sinus syndrome,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) in,Assessed
166282,Hereditary sick sinus syndrome,HCN4,hyperpolarization activated cyclic nucleotide gated potassium channel 4,Disease-causing germline mutation(s) in,Assessed
166282,Hereditary sick sinus syndrome,MYH6,myosin heavy chain 6,Major susceptibility factor in,Assessed
166282,Hereditary sick sinus syndrome,GNB2,G protein subunit beta 2,Disease-causing germline mutation(s) in,Assessed
578,Mucolipidosis type IV,MCOLN1,mucolipin TRP cation channel 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
166286,Porokeratotic eccrine ostial and dermal duct nevus,GJB2,gap junction protein beta 2,Disease-causing somatic mutation(s) in,Assessed
461,Recessive X-linked ichthyosis,FLG,filaggrin,Modifying germline mutation in,Assessed
461,Recessive X-linked ichthyosis,STS,steroid sulfatase,Disease-causing germline mutation(s) in,Assessed
584,Mucopolysaccharidosis type 7,GUSB,glucuronidase beta,Disease-causing germline mutation(s) in,Assessed
166412,Hot water reflex epilepsy,SLC1A1,solute carrier family 1 member 1,Disease-causing germline mutation(s) in,Assessed
95,Friedreich ataxia,FXN,frataxin,Disease-causing germline mutation(s) (loss of function) in,Assessed
586,Cystic fibrosis,SERPINA1,serpin family A member 1,Modifying germline mutation in,Assessed
586,Cystic fibrosis,SLC26A9,solute carrier family 26 member 9,Modifying germline mutation in,Assessed
586,Cystic fibrosis,SLC6A14,solute carrier family 6 member 14,Modifying germline mutation in,Assessed
586,Cystic fibrosis,SLC9A3,solute carrier family 9 member A3,Modifying germline mutation in,Assessed
586,Cystic fibrosis,CEACAM3,CEA cell adhesion molecule 3,Modifying germline mutation in,Assessed
586,Cystic fibrosis,CEACAM6,CEA cell adhesion molecule 6,Modifying germline mutation in,Assessed
586,Cystic fibrosis,EDNRA,endothelin receptor type A,Modifying germline mutation in,Assessed
586,Cystic fibrosis,GSTM3,glutathione S-transferase mu 3,Modifying germline mutation in,Assessed
586,Cystic fibrosis,HMOX1,heme oxygenase 1,Modifying germline mutation in,Assessed
586,Cystic fibrosis,GCLC,glutamate-cysteine ligase catalytic subunit,Modifying germline mutation in,Assessed
586,Cystic fibrosis,HFE,homeostatic iron regulator,Modifying germline mutation in,Assessed
586,Cystic fibrosis,CFTR,CF transmembrane conductance regulator,Disease-causing germline mutation(s) (loss of function) in,Assessed
586,Cystic fibrosis,TGFB1,transforming growth factor beta 1,Modifying germline mutation in,Assessed
586,Cystic fibrosis,DCTN4,dynactin subunit 4,Modifying germline mutation in,Assessed
586,Cystic fibrosis,CLCA4,chloride channel accessory 4,Modifying germline mutation in,Assessed
586,Cystic fibrosis,STX1A,syntaxin 1A,Modifying germline mutation in,Assessed
586,Cystic fibrosis,KCNN4,potassium calcium-activated channel subfamily N member 4,Modifying germline mutation in,Assessed
586,Cystic fibrosis,MIF,macrophage migration inhibitory factor,Modifying germline mutation in,Assessed
586,Cystic fibrosis,SLC11A1,solute carrier family 11 member 1,Modifying germline mutation in,Assessed
550,MELAS,MT-TQ,mitochondrially encoded tRNA-Gln (CAA/G),Candidate gene tested in,Not yet assessed
550,MELAS,MT-CO1,mitochondrially encoded cytochrome c oxidase I,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-CO2,mitochondrially encoded cytochrome c oxidase II,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-CO3,mitochondrially encoded cytochrome c oxidase III,Candidate gene tested in,Not yet assessed
550,MELAS,MT-ND1,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-ND4,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-ND5,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-ND6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-TL1,mitochondrially encoded tRNA-Leu (UUA/G) 1,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-TW,mitochondrially encoded tRNA-Trp (UGA/G),Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-TH,mitochondrially encoded tRNA-His (CAU/C),Candidate gene tested in,Not yet assessed
550,MELAS,MT-TS1,mitochondrially encoded tRNA-Ser (UCN) 1,Disease-causing germline mutation(s) in,Assessed
550,MELAS,MT-TS2,mitochondrially encoded tRNA-Ser (AGU/C) 2,Candidate gene tested in,Not yet assessed
550,MELAS,MT-TF,mitochondrially encoded tRNA-Phe (UUU/C),Disease-causing germline mutation(s) in,Assessed
269,Facioscapulohumeral dystrophy,DNMT3B,DNA methyltransferase 3 beta,Modifying germline mutation in,Assessed
269,Facioscapulohumeral dystrophy,DUX4,double homeobox 4,Candidate gene tested in,Not yet assessed
269,Facioscapulohumeral dystrophy,DUX4L1,double homeobox 4 like 1 (pseudogene),Candidate gene tested in,Not yet assessed
269,Facioscapulohumeral dystrophy,FRG1,FSHD region gene 1,Candidate gene tested in,Not yet assessed
269,Facioscapulohumeral dystrophy,SMCHD1,structural maintenance of chromosomes flexible hinge domain containing 1,Disease-causing germline mutation(s) in,Assessed
269,Facioscapulohumeral dystrophy,SMCHD1,structural maintenance of chromosomes flexible hinge domain containing 1,Modifying germline mutation in,Assessed
480,Kearns-Sayre syndrome,MT-ATP8,mitochondrially encoded ATP synthase membrane subunit 8,Candidate gene tested in,Not yet assessed
480,Kearns-Sayre syndrome,RRM2B,ribonucleotide reductase regulatory TP53 inducible subunit M2B,Disease-causing germline mutation(s) in,Assessed
480,Kearns-Sayre syndrome,MT-TL1,mitochondrially encoded tRNA-Leu (UUA/G) 1,Candidate gene tested in,Not yet assessed
551,MERRF,MT-TP,mitochondrially encoded tRNA-Pro (CCN),Disease-causing germline mutation(s) in,Assessed
551,MERRF,MT-ND5,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,Disease-causing germline mutation(s) in,Assessed
551,MERRF,MT-TL1,mitochondrially encoded tRNA-Leu (UUA/G) 1,Disease-causing germline mutation(s) in,Assessed
551,MERRF,MT-TK,mitochondrially encoded tRNA-Lys (AAA/G),Disease-causing germline mutation(s) in,Assessed
551,MERRF,MT-RNR1,mitochondrially encoded 12S rRNA,Candidate gene tested in,Not yet assessed
551,MERRF,MT-TQ,mitochondrially encoded tRNA-Gln (CAA/G),Candidate gene tested in,Not yet assessed
551,MERRF,MT-TH,mitochondrially encoded tRNA-His (CAU/C),Disease-causing germline mutation(s) in,Assessed
551,MERRF,MT-TS1,mitochondrially encoded tRNA-Ser (UCN) 1,Disease-causing germline mutation(s) in,Assessed
551,MERRF,MT-TS2,mitochondrially encoded tRNA-Ser (AGU/C) 2,Candidate gene tested in,Not yet assessed
551,MERRF,MT-TF,mitochondrially encoded tRNA-Phe (UUU/C),Disease-causing germline mutation(s) in,Assessed
597,Central core disease,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,SOX10,SRY-box transcription factor 10,Disease-causing germline mutation(s) in,Assessed
684,Paramyotonia congenita of Von Eulenburg,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) in,Assessed
163931,Acrodermatitis continua of Hallopeau,IL36RN,interleukin 36 receptor antagonist,Disease-causing germline mutation(s) in,Assessed
163931,Acrodermatitis continua of Hallopeau,AP1S3,adaptor related protein complex 1 subunit sigma 3,Disease-causing germline mutation(s) in,Assessed
163927,Pustulosis palmaris et plantaris,IL36RN,interleukin 36 receptor antagonist,Disease-causing germline mutation(s) in,Assessed
163927,Pustulosis palmaris et plantaris,AP1S3,adaptor related protein complex 1 subunit sigma 3,Disease-causing germline mutation(s) in,Assessed
163937,"X-linked intellectual disability, Najm type",CASK,calcium/calmodulin dependent serine protein kinase,Disease-causing germline mutation(s) in,Assessed
614,Thomsen and Becker disease,CLCN1,chloride voltage-gated channel 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",HDAC6,histone deacetylase 6,Disease-causing germline mutation(s) in,Assessed
163976,"X-linked intellectual disability, Van Esch type",POLA1,"DNA polymerase alpha 1, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
163956,"X-linked intellectual disability, Nascimento type",UBE2A,ubiquitin conjugating enzyme E2 A,Disease-causing germline mutation(s) in,Assessed
324,Fabry disease,GLA,galactosidase alpha,Disease-causing germline mutation(s) in,Assessed
163985,Hyperekplexia-epilepsy syndrome,ARHGEF9,Cdc42 guanine nucleotide exchange factor 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
778,Rett syndrome,MECP2,methyl-CpG binding protein 2,Disease-causing germline mutation(s) in,Assessed
307,Juvenile myoclonic epilepsy,CILK1,ciliogenesis associated kinase 1,Major susceptibility factor in,Assessed
307,Juvenile myoclonic epilepsy,CACNB4,calcium voltage-gated channel auxiliary subunit beta 4,Major susceptibility factor in,Assessed
307,Juvenile myoclonic epilepsy,GABRA1,gamma-aminobutyric acid type A receptor subunit alpha1,Major susceptibility factor in,Assessed
307,Juvenile myoclonic epilepsy,EFHC1,EF-hand domain containing 1,Major susceptibility factor in,Assessed
307,Juvenile myoclonic epilepsy,GABRD,gamma-aminobutyric acid type A receptor subunit delta,Major susceptibility factor in,Assessed
307,Juvenile myoclonic epilepsy,KCNQ3,potassium voltage-gated channel subfamily Q member 3,Major susceptibility factor in,Assessed
307,Juvenile myoclonic epilepsy,JRK,Jrk helix-turn-helix protein,Candidate gene tested in,Not yet assessed
307,Juvenile myoclonic epilepsy,CLCN2,chloride voltage-gated channel 2,Major susceptibility factor in,Assessed
1941,Juvenile absence epilepsy,EFHC1,EF-hand domain containing 1,Major susceptibility factor in,Assessed
892,Von Hippel-Lindau disease,CCND1,cyclin D1,Modifying germline mutation in,Assessed
892,Von Hippel-Lindau disease,VHL,von Hippel-Lindau tumor suppressor,Disease-causing germline mutation(s) in,Assessed
731,Autosomal recessive polycystic kidney disease,DZIP1L,DAZ interacting zinc finger protein 1 like,Disease-causing germline mutation(s) (loss of function) in,Assessed
731,Autosomal recessive polycystic kidney disease,PKHD1,PKHD1 ciliary IPT domain containing fibrocystin/polyductin,Disease-causing germline mutation(s) (loss of function) in,Assessed
164736,Familial advanced sleep-phase syndrome,PER3,period circadian regulator 3,Disease-causing germline mutation(s) in,Assessed
164736,Familial advanced sleep-phase syndrome,CSNK1D,casein kinase 1 delta,Disease-causing germline mutation(s) in,Assessed
164736,Familial advanced sleep-phase syndrome,PER2,period circadian regulator 2,Disease-causing germline mutation(s) in,Assessed
138,CHARGE syndrome,SEMA3E,semaphorin 3E,Candidate gene tested in,Not yet assessed
138,CHARGE syndrome,CHD7,chromodomain helicase DNA binding protein 7,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,CCNF,cyclin F,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,TAF15,TATA-box binding protein associated factor 15,Candidate gene tested in,Not yet assessed
803,Amyotrophic lateral sclerosis,ANXA11,annexin A11,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,CFAP410,cilia and flagella associated protein 410,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,GLE1,GLE1 RNA export mediator,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,NEK1,NIMA related kinase 1,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,GLT8D1,glycosyltransferase 8 domain containing 1,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,CHCHD10,coiled-coil-helix-coiled-coil-helix domain containing 10,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,DAO,D-amino acid oxidase,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,ATXN2,ataxin 2,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,CHMP2B,charged multivesicular body protein 2B,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,SOD1,superoxide dismutase 1,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,TREM2,triggering receptor expressed on myeloid cells 2,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,VAPB,VAMP associated protein B and C,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,VCP,valosin containing protein,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,NEFH,neurofilament heavy chain,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,OPTN,optineurin,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,DCTN1,dynactin subunit 1,Candidate gene tested in,Not yet assessed
803,Amyotrophic lateral sclerosis,TARDBP,TAR DNA binding protein,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,FIG4,FIG4 phosphoinositide 5-phosphatase,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,FUS,FUS RNA binding protein,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,ANG,angiogenin,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,MATR3,matrin 3,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,PRPH,peripherin,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,PON1,paraoxonase 1,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,PON2,paraoxonase 2,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,PON3,paraoxonase 3,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,SQSTM1,sequestosome 1,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,UBQLN2,ubiquilin 2,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,C9ORF72,C9orf72-SMCR8 complex subunit,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,PFN1,profilin 1,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,TBK1,TANK binding kinase 1,Major susceptibility factor in,Assessed
803,Amyotrophic lateral sclerosis,HNRNPA1,heterogeneous nuclear ribonucleoprotein A1,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,PPARGC1A,PPARG coactivator 1 alpha,Modifying germline mutation in,Assessed
803,Amyotrophic lateral sclerosis,ERBB4,erb-b2 receptor tyrosine kinase 4,Disease-causing germline mutation(s) in,Assessed
803,Amyotrophic lateral sclerosis,UNC13A,unc-13 homolog A,Major susceptibility factor in,Assessed
100,Ataxia-telangiectasia,ATM,ATM serine/threonine kinase,Disease-causing germline mutation(s) in,Assessed
399,Huntington disease,HTT,huntingtin,Disease-causing germline mutation(s) (gain of function) in,Assessed
399,Huntington disease,SLC2A3,solute carrier family 2 member 3,Modifying germline mutation in,Assessed
501,Lafora disease,EPM2A,"EPM2A glucan phosphatase, laforin",Disease-causing germline mutation(s) (loss of function) in,Assessed
501,Lafora disease,NHLRC1,NHL repeat containing E3 ubiquitin protein ligase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
567,22q11.2 deletion syndrome,TBX1,T-box transcription factor 1,Disease-causing germline mutation(s) in,Assessed
567,22q11.2 deletion syndrome,TBX1,T-box transcription factor 1,Role in the phenotype of,Assessed
567,22q11.2 deletion syndrome,ARVCF,ARVCF delta catenin family member,Role in the phenotype of,Assessed
567,22q11.2 deletion syndrome,GP1BB,glycoprotein Ib platelet subunit beta,Role in the phenotype of,Assessed
567,22q11.2 deletion syndrome,UFD1,ubiquitin recognition factor in ER associated degradation 1,Role in the phenotype of,Assessed
567,22q11.2 deletion syndrome,HIRA,histone cell cycle regulator,Role in the phenotype of,Assessed
567,22q11.2 deletion syndrome,COMT,catechol-O-methyltransferase,Role in the phenotype of,Assessed
567,22q11.2 deletion syndrome,JMJD1C,jumonji domain containing 1C,Modifying germline mutation in,Assessed
567,22q11.2 deletion syndrome,RREB1,ras responsive element binding protein 1,Modifying germline mutation in,Assessed
567,22q11.2 deletion syndrome,SEC24C,"SEC24 homolog C, COPII component",Modifying germline mutation in,Assessed
232,Sickle cell anemia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
536,Systemic lupus erythematosus,BANK1,B cell scaffold protein with ankyrin repeats 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,PXK,PX domain containing serine/threonine kinase like,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,IGHG1,immunoglobulin heavy constant gamma 1 (G1m marker),Modifying germline mutation in,Assessed
536,Systemic lupus erythematosus,CTLA4,cytotoxic T-lymphocyte associated protein 4,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,TREX1,three prime repair exonuclease 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,IL10,interleukin 10,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,MECP2,methyl-CpG binding protein 2,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,FCGR3B,Fc fragment of IgG receptor IIIb,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,C4A,complement C4A (Chido/Rodgers blood group),Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,C4B,complement C4B (Chido/Rodgers blood group),Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,CR2,complement C3d receptor 2,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,IRF5,interferon regulatory factor 5,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,PDCD1,programmed cell death 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,PTPN22,protein tyrosine phosphatase non-receptor type 22,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,STAT4,signal transducer and activator of transcription 4,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,FCGR2B,Fc fragment of IgG receptor IIb,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,DNASE1,deoxyribonuclease 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,BLK,"BLK proto-oncogene, Src family tyrosine kinase",Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,ITGAM,integrin subunit alpha M,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,KIAA0319L,KIAA0319 like,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,JAZF1,JAZF zinc finger 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,TNIP1,TNFAIP3 interacting protein 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,TNFAIP3,TNF alpha induced protein 3,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,UBE2L3,ubiquitin conjugating enzyme E2 L3,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,TNFSF4,TNF superfamily member 4,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,SPP1,secreted phosphoprotein 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,IRAK1,interleukin 1 receptor associated kinase 1,Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,ETS1,"ETS proto-oncogene 1, transcription factor",Major susceptibility factor in,Assessed
536,Systemic lupus erythematosus,TLR7,toll like receptor 7,Disease-causing germline mutation(s) in,Assessed
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,COL9A1,collagen type IX alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,COL9A2,collagen type IX alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,COL9A3,collagen type IX alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
534,Oculocerebrorenal syndrome of Lowe,OCRL,OCRL inositol polyphosphate-5-phosphatase,Disease-causing germline mutation(s) (loss of function) in,Assessed
165991,Exercise-induced hyperinsulinism,SLC16A1,solute carrier family 16 member 1,Disease-causing germline mutation(s) in,Assessed
652,Multiple endocrine neoplasia type 1,CDKN1B,cyclin dependent kinase inhibitor 1B,Candidate gene tested in,Not yet assessed
652,Multiple endocrine neoplasia type 1,CDKN2B,cyclin dependent kinase inhibitor 2B,Candidate gene tested in,Not yet assessed
652,Multiple endocrine neoplasia type 1,MEN1,menin 1,Disease-causing germline mutation(s) in,Assessed
908,Fragile X syndrome,FMR1,fragile X messenger ribonucleoprotein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
47,X-linked agammaglobulinemia,BTK,Bruton tyrosine kinase,Disease-causing germline mutation(s) in,Assessed
905,Wilson disease,ATP7B,ATPase copper transporting beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
792,X-linked retinoschisis,RS1,retinoschisin 1,Disease-causing germline mutation(s) in,Assessed
827,Stargardt disease,CNGB3,cyclic nucleotide gated channel subunit beta 3,Candidate gene tested in,Not yet assessed
827,Stargardt disease,PRPH2,peripherin 2,Candidate gene tested in,Not yet assessed
827,Stargardt disease,ABCA4,ATP binding cassette subfamily A member 4,Disease-causing germline mutation(s) in,Assessed
827,Stargardt disease,ELOVL4,ELOVL fatty acid elongase 4,Disease-causing germline mutation(s) in,Assessed
827,Stargardt disease,PROM1,prominin 1,Disease-causing germline mutation(s) in,Assessed
906,Wiskott-Aldrich syndrome,WAS,WASP actin nucleation promoting factor,Disease-causing germline mutation(s) in,Assessed
904,Williams syndrome,STX1A,syntaxin 1A,Role in the phenotype of,Assessed
904,Williams syndrome,TBL2,transducin beta like 2,Role in the phenotype of,Assessed
904,Williams syndrome,GTF2IRD2,GTF2I repeat domain containing 2,Role in the phenotype of,Assessed
904,Williams syndrome,VPS37D,VPS37D subunit of ESCRT-I,Role in the phenotype of,Assessed
904,Williams syndrome,FKBP6,FKBP prolyl isomerase family member 6 (inactive),Role in the phenotype of,Assessed
904,Williams syndrome,RFC2,replication factor C subunit 2,Candidate gene tested in,Assessed
904,Williams syndrome,NCF1,neutrophil cytosolic factor 1,Role in the phenotype of,Assessed
904,Williams syndrome,TMEM270,transmembrane protein 270,Role in the phenotype of,Assessed
904,Williams syndrome,EIF4H,eukaryotic translation initiation factor 4H,Role in the phenotype of,Assessed
904,Williams syndrome,DNAJC30,DnaJ heat shock protein family (Hsp40) member C30,Candidate gene tested in,Not yet assessed
904,Williams syndrome,METTL27,methyltransferase like 27,Role in the phenotype of,Assessed
904,Williams syndrome,BUD23,BUD23 rRNA methyltransferase and ribosome maturation factor,Role in the phenotype of,Assessed
904,Williams syndrome,BAZ1B,bromodomain adjacent to zinc finger domain 1B,Role in the phenotype of,Assessed
904,Williams syndrome,CLIP2,CAP-Gly domain containing linker protein 2,Role in the phenotype of,Assessed
904,Williams syndrome,ELN,elastin,Role in the phenotype of,Assessed
904,Williams syndrome,GTF2I,general transcription factor IIi,Role in the phenotype of,Assessed
904,Williams syndrome,GTF2IRD1,GTF2I repeat domain containing 1,Role in the phenotype of,Assessed
904,Williams syndrome,LIMK1,LIM domain kinase 1,Role in the phenotype of,Assessed
280,Wolf-Hirschhorn syndrome,PIGG,phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group),Role in the phenotype of,Assessed
280,Wolf-Hirschhorn syndrome,CPLX1,complexin 1,Role in the phenotype of,Assessed
280,Wolf-Hirschhorn syndrome,CTBP1,C-terminal binding protein 1,Role in the phenotype of,Assessed
280,Wolf-Hirschhorn syndrome,NSD2,nuclear receptor binding SET domain protein 2,Role in the phenotype of,Assessed
280,Wolf-Hirschhorn syndrome,NELFA,negative elongation factor complex member A,Candidate gene tested in,Not yet assessed
280,Wolf-Hirschhorn syndrome,LETM1,leucine zipper and EF-hand containing transmembrane protein 1,Role in the phenotype of,Assessed
15,Achondroplasia,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
96,Ataxia with vitamin E deficiency,TTPA,alpha tocopherol transfer protein,Disease-causing germline mutation(s) in,Assessed
101,Dentatorubral pallidoluysian atrophy,ATN1,atrophin 1,Disease-causing germline mutation(s) in,Assessed
276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,IL2RG,interleukin 2 receptor subunit gamma,Disease-causing germline mutation(s) in,Assessed
481,Kennedy disease,AR,androgen receptor,Disease-causing germline mutation(s) in,Assessed
664,Ornithine transcarbamylase deficiency,OTC,ornithine transcarbamylase,Disease-causing germline mutation(s) in,Assessed
394,Homocystinuria due to cystathionine beta-synthase deficiency,CBS,cystathionine beta-synthase,Disease-causing germline mutation(s) in,Assessed
508,Donohue syndrome,INSR,insulin receptor,Disease-causing germline mutation(s) in,Assessed
163596,Hemoglobin Bart's fetalis syndrome,HBA2,hemoglobin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
163596,Hemoglobin Bart's fetalis syndrome,HBA1,hemoglobin subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
429,Hypochondroplasia,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
104,Leber hereditary optic neuropathy,NDUFS2,NADH:ubiquinone oxidoreductase core subunit S2,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,DNAJC30,DnaJ heat shock protein family (Hsp40) member C30,Disease-causing germline mutation(s) (loss of function) in,Assessed
104,Leber hereditary optic neuropathy,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-CO1,mitochondrially encoded cytochrome c oxidase I,Candidate gene tested in,Not yet assessed
104,Leber hereditary optic neuropathy,MT-CO3,mitochondrially encoded cytochrome c oxidase III,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-CYB,mitochondrially encoded cytochrome b,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-ND1,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-ND2,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-ND4,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-ND4L,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-ND5,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,Disease-causing germline mutation(s) in,Assessed
104,Leber hereditary optic neuropathy,MT-ND6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,Disease-causing germline mutation(s) in,Assessed
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,L1CAM,L1 cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
163634,Maffucci syndrome,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Disease-causing somatic mutation(s) in,Assessed
163634,Maffucci syndrome,IDH1,isocitrate dehydrogenase (NADP(+)) 1,Disease-causing somatic mutation(s) in,Assessed
163717,Familial mesial temporal lobe epilepsy,CPA6,carboxypeptidase A6,Disease-causing germline mutation(s) (gain of function) in,Assessed
649,Norrie disease,NDP,norrin cystine knot growth factor NDP,Disease-causing germline mutation(s) (loss of function) in,Assessed
163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) in,Assessed
163721,Rolandic epilepsy-speech dyspraxia syndrome,SRPX2,sushi repeat containing protein X-linked 2,Disease-causing germline mutation(s) in,Assessed
163721,Rolandic epilepsy-speech dyspraxia syndrome,GRIN2A,glutamate ionotropic receptor NMDA type subunit 2A,Disease-causing germline mutation(s) in,Assessed
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,SCP2,sterol carrier protein 2,Disease-causing germline mutation(s) in,Assessed
163681,CNTNAP2-related developmental and epileptic encephalopathy,CNTNAP2,contactin associated protein 2,Disease-causing germline mutation(s) in,Assessed
379,Chronic granulomatous disease,CYBB,cytochrome b-245 beta chain,Disease-causing germline mutation(s) in,Assessed
379,Chronic granulomatous disease,NCF1,neutrophil cytosolic factor 1,Disease-causing germline mutation(s) in,Assessed
379,Chronic granulomatous disease,NCF2,neutrophil cytosolic factor 2,Disease-causing germline mutation(s) in,Assessed
379,Chronic granulomatous disease,CYBA,cytochrome b-245 alpha chain,Disease-causing germline mutation(s) in,Assessed
379,Chronic granulomatous disease,NCF4,neutrophil cytosolic factor 4,Disease-causing germline mutation(s) in,Assessed
379,Chronic granulomatous disease,CYBC1,cytochrome b-245 chaperone 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
16,Blue cone monochromatism,OPN1MW,"opsin 1, medium wave sensitive",Disease-causing germline mutation(s) in,Assessed
16,Blue cone monochromatism,OPN1LW,"opsin 1, long wave sensitive",Disease-causing germline mutation(s) in,Assessed
644,NARP syndrome,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
163699,Alveolar soft tissue sarcoma,TFE3,transcription factor binding to IGHM enhancer 3,Part of a fusion gene in,Assessed
163699,Alveolar soft tissue sarcoma,ASPSCR1,"ASPSCR1 tether for SLC2A4, UBX domain containing",Part of a fusion gene in,Assessed
637,Full NF2-related schwannomatosis,NF2,"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",Disease-causing germline mutation(s) in,Assessed
163696,Action myoclonus-renal failure syndrome,SCARB2,scavenger receptor class B member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
181,X-linked hypohidrotic ectodermal dysplasia,EDA,ectodysplasin A,Disease-causing germline mutation(s) in,Assessed
181,X-linked hypohidrotic ectodermal dysplasia,EDA2R,ectodysplasin A2 receptor,Disease-causing germline mutation(s) in,Assessed
163693,2p21 microdeletion syndrome,SLC3A1,solute carrier family 3 member 1,Role in the phenotype of,Assessed
163693,2p21 microdeletion syndrome,PREPL,prolyl endopeptidase like,Role in the phenotype of,Assessed
163693,2p21 microdeletion syndrome,CAMKMT,calmodulin-lysine N-methyltransferase,Role in the phenotype of,Assessed
163693,2p21 microdeletion syndrome,PPM1B,"protein phosphatase, Mg2+/Mn2+ dependent 1B",Role in the phenotype of,Assessed
163690,Hypotonia-cystinuria syndrome,SLC3A1,solute carrier family 3 member 1,Role in the phenotype of,Assessed
163690,Hypotonia-cystinuria syndrome,PREPL,prolyl endopeptidase like,Role in the phenotype of,Assessed
337,Fibrodysplasia ossificans progressiva,ACVR1,activin A receptor type 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
377,Gorlin syndrome,PTCH1,patched 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
377,Gorlin syndrome,SUFU,SUFU negative regulator of hedgehog signaling,Disease-causing germline mutation(s) (loss of function) in,Assessed
377,Gorlin syndrome,PTCH2,patched 2,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,RRAS,RAS related,Candidate gene tested in,Not yet assessed
648,Noonan syndrome,MRAS,muscle RAS oncogene homolog,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,SPRED2,sprouty related EVH1 domain containing 2,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,RRAS2,RAS related 2,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,PTPN11,protein tyrosine phosphatase non-receptor type 11,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,CBL,Cbl proto-oncogene,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,SOS1,SOS Ras/Rac guanine nucleotide exchange factor 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
648,Noonan syndrome,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,RAF1,"Raf-1 proto-oncogene, serine/threonine kinase",Disease-causing germline mutation(s) (gain of function) in,Assessed
648,Noonan syndrome,NRAS,"NRAS proto-oncogene, GTPase",Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,RIT1,Ras like without CAAX 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
648,Noonan syndrome,LZTR1,leucine zipper like post translational regulator 1,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,RASA2,RAS p21 protein activator 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
648,Noonan syndrome,SOS2,SOS Ras/Rho guanine nucleotide exchange factor 2,Disease-causing germline mutation(s) in,Assessed
648,Noonan syndrome,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing germline mutation(s) in,Assessed
281,Monosomy 5p syndrome,SEMA5A,semaphorin 5A,Candidate gene tested in,Not yet assessed
281,Monosomy 5p syndrome,CTNND2,catenin delta 2,Role in the phenotype of,Assessed
752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",HSD17B3,hydroxysteroid 17-beta dehydrogenase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
510,Lesch-Nyhan syndrome,HPRT1,hypoxanthine phosphoribosyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
524,Li-Fraumeni syndrome,CDKN2A,cyclin dependent kinase inhibitor 2A,Candidate gene tested in,Not yet assessed
524,Li-Fraumeni syndrome,MDM2,MDM2 proto-oncogene,Modifying germline mutation in,Assessed
524,Li-Fraumeni syndrome,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
524,Li-Fraumeni syndrome,CHEK2,checkpoint kinase 2,Candidate gene tested in,Not yet assessed
640,Hereditary neuropathy with liability to pressure palsies,PMP22,peripheral myelin protein 22,Disease-causing germline mutation(s) in,Assessed
640,Hereditary neuropathy with liability to pressure palsies,PMP22,peripheral myelin protein 22,Role in the phenotype of,Assessed
60,Alpha-1-antitrypsin deficiency,SERPINA1,serpin family A member 1,Disease-causing germline mutation(s) in,Assessed
895,Waardenburg syndrome type 2,KITLG,KIT ligand,Disease-causing germline mutation(s) in,Assessed
895,Waardenburg syndrome type 2,TYR,tyrosinase,Modifying germline mutation in,Assessed
895,Waardenburg syndrome type 2,SNAI2,snail family transcriptional repressor 2,Disease-causing germline mutation(s) in,Assessed
895,Waardenburg syndrome type 2,SOX10,SRY-box transcription factor 10,Disease-causing germline mutation(s) in,Assessed
895,Waardenburg syndrome type 2,MITF,melanocyte inducing transcription factor,Disease-causing germline mutation(s) in,Assessed
895,Waardenburg syndrome type 2,EDNRB,endothelin receptor type B,Disease-causing germline mutation(s) (loss of function) in,Assessed
896,Waardenburg syndrome type 3,PAX3,paired box 3,Disease-causing germline mutation(s) in,Assessed
857,Townes-Brocks syndrome,SALL1,spalt like transcription factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
857,Townes-Brocks syndrome,DACT1,dishevelled binding antagonist of beta catenin 1,Disease-causing germline mutation(s) in,Assessed
894,Waardenburg syndrome type 1,PAX3,paired box 3,Disease-causing germline mutation(s) in,Assessed
682,Hyperkalemic periodic paralysis,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
800,Schwartz-Jampel syndrome,HSPG2,heparan sulfate proteoglycan 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
628,Diastrophic dysplasia,SLC26A2,solute carrier family 26 member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
681,Hypokalemic periodic paralysis,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) in,Assessed
681,Hypokalemic periodic paralysis,CACNA1S,calcium voltage-gated channel subunit alpha1 S,Disease-causing germline mutation(s) in,Assessed
681,Hypokalemic periodic paralysis,KCNE3,potassium voltage-gated channel subfamily E regulatory subunit 3,Candidate gene tested in,Not yet assessed
107,BOR syndrome,SIX1,SIX homeobox 1,Disease-causing germline mutation(s) in,Assessed
107,BOR syndrome,EYA1,EYA transcriptional coactivator and phosphatase 1,Disease-causing germline mutation(s) in,Assessed
107,BOR syndrome,SIX5,SIX homeobox 5,Disease-causing germline mutation(s) in,Assessed
774,Hereditary hemorrhagic telangiectasia,ACVRL1,activin A receptor like type 1,Disease-causing germline mutation(s) in,Assessed
774,Hereditary hemorrhagic telangiectasia,SMAD4,SMAD family member 4,Disease-causing germline mutation(s) in,Assessed
774,Hereditary hemorrhagic telangiectasia,ENG,endoglin,Disease-causing germline mutation(s) in,Assessed
774,Hereditary hemorrhagic telangiectasia,GDF2,growth differentiation factor 2,Disease-causing germline mutation(s) in,Assessed
794,Saethre-Chotzen syndrome,FGFR3,fibroblast growth factor receptor 3,Candidate gene tested in,Not yet assessed
794,Saethre-Chotzen syndrome,FGFR2,fibroblast growth factor receptor 2,Candidate gene tested in,Not yet assessed
794,Saethre-Chotzen syndrome,TWIST1,twist family bHLH transcription factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2869,Peutz-Jeghers syndrome,STK11,serine/threonine kinase 11,Disease-causing germline mutation(s) in,Assessed
893,WAGR syndrome,WT1,WT1 transcription factor,Role in the phenotype of,Assessed
893,WAGR syndrome,PAX6,paired box 6,Role in the phenotype of,Assessed
893,WAGR syndrome,BDNF,brain derived neurotrophic factor,Role in the phenotype of,Assessed
912,Zellweger syndrome,PEX11B,peroxisomal biogenesis factor 11 beta,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX2,peroxisomal biogenesis factor 2,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX1,peroxisomal biogenesis factor 1,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX10,peroxisomal biogenesis factor 10,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX12,peroxisomal biogenesis factor 12,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX13,peroxisomal biogenesis factor 13,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX14,peroxisomal biogenesis factor 14,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX16,peroxisomal biogenesis factor 16,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX19,peroxisomal biogenesis factor 19,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX26,peroxisomal biogenesis factor 26,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX3,peroxisomal biogenesis factor 3,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX5,peroxisomal biogenesis factor 5,Disease-causing germline mutation(s) in,Assessed
912,Zellweger syndrome,PEX6,peroxisomal biogenesis factor 6,Disease-causing germline mutation(s) in,Assessed
53,Albers-Schönberg osteopetrosis,CLCN7,chloride voltage-gated channel 7,Disease-causing germline mutation(s) in,Assessed
14,Abetalipoproteinemia,MTTP,microsomal triglyceride transfer protein,Disease-causing germline mutation(s) in,Assessed
167,Chédiak-Higashi syndrome,LYST,lysosomal trafficking regulator,Disease-causing germline mutation(s) (loss of function) in,Assessed
207,Crouzon syndrome,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
207,Crouzon syndrome,ERF,ETS2 repressor factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
201,Cowden syndrome,PTEN,phosphatase and tensin homolog,Disease-causing germline mutation(s) (loss of function) in,Assessed
201,Cowden syndrome,USF3,upstream transcription factor family member 3,Disease-causing germline mutation(s) in,Assessed
201,Cowden syndrome,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing germline mutation(s) (gain of function) in,Assessed
201,Cowden syndrome,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Disease-causing germline mutation(s) in,Assessed
201,Cowden syndrome,SDHD,succinate dehydrogenase complex subunit D,Disease-causing germline mutation(s) in,Assessed
201,Cowden syndrome,SDHC,succinate dehydrogenase complex subunit C,Disease-causing germline mutation(s) in,Assessed
201,Cowden syndrome,SEC23B,"SEC23 homolog B, COPII component",Disease-causing germline mutation(s) in,Assessed
201,Cowden syndrome,AKT1,AKT serine/threonine kinase 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
201,Cowden syndrome,KLLN,"killin, p53 regulated DNA replication inhibitor",Disease-causing germline mutation(s) in,Assessed
192,Coffin-Lowry syndrome,RPS6KA3,ribosomal protein S6 kinase A3,Disease-causing germline mutation(s) in,Assessed
169808,Mild hemophilia A,F8,coagulation factor VIII,Disease-causing germline mutation(s) in,Assessed
169802,Severe hemophilia A,F8,coagulation factor VIII,Disease-causing germline mutation(s) in,Assessed
169805,Moderate hemophilia A,F8,coagulation factor VIII,Disease-causing germline mutation(s) in,Assessed
562,McCune-Albright syndrome,GNAS,GNAS complex locus,Disease-causing somatic mutation(s) in,Assessed
565,Menkes disease,ATP7A,ATPase copper transporting alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
474,Jeune syndrome,KIAA0753,KIAA0753,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,DYNC2LI1,dynein cytoplasmic 2 light intermediate chain 1,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,IFT80,intraflagellar transport 80,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,DYNC2H1,dynein cytoplasmic 2 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,TTC21B,tetratricopeptide repeat domain 21B,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,WDR19,WD repeat domain 19,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,IFT140,intraflagellar transport 140,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,DYNC2I1,dynein 2 intermediate chain 1,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,IFT172,intraflagellar transport 172,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,DYNC2I2,dynein 2 intermediate chain 2,Disease-causing germline mutation(s) in,Assessed
474,Jeune syndrome,CEP120,centrosomal protein 120,Disease-causing germline mutation(s) in,Assessed
540,Familial hemophagocytic lymphohistiocytosis,PRF1,perforin 1,Disease-causing germline mutation(s) in,Assessed
540,Familial hemophagocytic lymphohistiocytosis,STX11,syntaxin 11,Disease-causing germline mutation(s) in,Assessed
540,Familial hemophagocytic lymphohistiocytosis,UNC13D,unc-13 homolog D,Disease-causing germline mutation(s) in,Assessed
540,Familial hemophagocytic lymphohistiocytosis,STXBP2,syntaxin binding protein 2,Disease-causing germline mutation(s) in,Assessed
568,"Microphthalmia, Lenz type",BCOR,BCL6 corepressor,Disease-causing germline mutation(s) in,Assessed
568,"Microphthalmia, Lenz type",NAA10,"N-alpha-acetyltransferase 10, NatA catalytic subunit",Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,TXNDC15,thioredoxin domain containing 15,Disease-causing germline mutation(s) (loss of function) in,Assessed
564,Meckel syndrome,TMEM107,transmembrane protein 107,Disease-causing germline mutation(s) (loss of function) in,Assessed
564,Meckel syndrome,TCTN1,tectonic family member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
564,Meckel syndrome,TMEM237,transmembrane protein 237,Disease-causing germline mutation(s) (loss of function) in,Assessed
564,Meckel syndrome,RPGRIP1,RPGR interacting protein 1,Candidate gene tested in,Not yet assessed
564,Meckel syndrome,CEP290,centrosomal protein 290,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,TMEM67,transmembrane protein 67,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,MKS1,MKS transition zone complex subunit 1,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,RPGRIP1L,RPGRIP1 like,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,CC2D2A,coiled-coil and C2 domain containing 2A,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,TMEM216,transmembrane protein 216,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,TCTN3,tectonic family member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
564,Meckel syndrome,TCTN2,tectonic family member 2,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,B9D1,B9 domain containing 1,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,B9D2,B9 domain containing 2,Disease-causing germline mutation(s) in,Assessed
564,Meckel syndrome,TMEM231,transmembrane protein 231,Disease-causing germline mutation(s) (loss of function) in,Assessed
564,Meckel syndrome,CSPP1,centrosome and spindle pole associated protein 1,Disease-causing germline mutation(s) in,Assessed
289,Ellis Van Creveld syndrome,DYNC2LI1,dynein cytoplasmic 2 light intermediate chain 1,Disease-causing germline mutation(s) in,Assessed
289,Ellis Van Creveld syndrome,GLI1,GLI family zinc finger 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
289,Ellis Van Creveld syndrome,EVC2,EvC ciliary complex subunit 2,Disease-causing germline mutation(s) in,Assessed
289,Ellis Van Creveld syndrome,EVC,EvC ciliary complex subunit 1,Disease-causing germline mutation(s) in,Assessed
289,Ellis Van Creveld syndrome,PRKACA,protein kinase cAMP-activated catalytic subunit alpha,Disease-causing germline mutation(s) in,Assessed
289,Ellis Van Creveld syndrome,PRKACB,protein kinase cAMP-activated catalytic subunit beta,Disease-causing germline mutation(s) in,Assessed
258,Laminin subunit alpha 2-related congenital muscular dystrophy,LAMA2,laminin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
1646,Chromosome Y microdeletion syndrome,AZF1,azoospermia factor 1,Role in the phenotype of,Assessed
1646,Chromosome Y microdeletion syndrome,USP9Y,ubiquitin specific peptidase 9 Y-linked,Role in the phenotype of,Assessed
1646,Chromosome Y microdeletion syndrome,DAZ1,deleted in azoospermia 1,Candidate gene tested in,Not yet assessed
1646,Chromosome Y microdeletion syndrome,DAZ2,deleted in azoospermia 2,Candidate gene tested in,Not yet assessed
1646,Chromosome Y microdeletion syndrome,DAZ3,deleted in azoospermia 3,Candidate gene tested in,Not yet assessed
1646,Chromosome Y microdeletion syndrome,DAZ4,deleted in azoospermia 4,Candidate gene tested in,Not yet assessed
1646,Chromosome Y microdeletion syndrome,DDX3Y,DEAD-box helicase 3 Y-linked,Candidate gene tested in,Not yet assessed
1646,Chromosome Y microdeletion syndrome,RBMY1A1,RNA binding motif protein Y-linked family 1 member A1,Candidate gene tested in,Not yet assessed
1646,Chromosome Y microdeletion syndrome,TSPY1,testis specific protein Y-linked 1,Modifying germline mutation in,Assessed
169464,Primary CD59 deficiency,CD59,CD59 molecule (CD59 blood group),Disease-causing germline mutation(s) in,Assessed
87,Apert syndrome,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
97,Familial paroxysmal ataxia,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) (loss of function) in,Assessed
169467,Recurrent Neisseria infections due to factor D deficiency,CFD,complement factor D,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,SULT2B1,sulfotransferase family 2B member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
313,Lamellar ichthyosis,ASPRV1,aspartic peptidase retroviral like 1,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,SDR9C7,short chain dehydrogenase/reductase family 9C member 7,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,ABCA12,ATP binding cassette subfamily A member 12,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,ALOX12B,"arachidonate 12-lipoxygenase, 12R type",Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,ALOXE3,arachidonate epidermal lipoxygenase 3,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,TGM1,transglutaminase 1,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,CYP4F22,cytochrome P450 family 4 subfamily F member 22,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,NIPAL4,NIPA like domain containing 4,Disease-causing germline mutation(s) in,Assessed
313,Lamellar ichthyosis,LIPN,lipase family member N,Disease-causing germline mutation(s) in,Assessed
169799,Mild hemophilia B,F9,coagulation factor IX,Disease-causing germline mutation(s) in,Assessed
169796,Moderate hemophilia B,F9,coagulation factor IX,Disease-causing germline mutation(s) in,Assessed
169793,Severe hemophilia B,F9,coagulation factor IX,Disease-causing germline mutation(s) in,Assessed
1000,Ocular albinism with late-onset sensorineural deafness,AP3D1,adaptor related protein complex 3 subunit delta 1,Candidate gene tested in,Not yet assessed
171430,Severe congenital nemaline myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
171430,Severe congenital nemaline myopathy,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
171430,Severe congenital nemaline myopathy,KLHL40,kelch like family member 40,Disease-causing germline mutation(s) (loss of function) in,Assessed
171430,Severe congenital nemaline myopathy,KLHL41,kelch like family member 41,Disease-causing germline mutation(s) (loss of function) in,Assessed
171430,Severe congenital nemaline myopathy,LMOD3,leiomodin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
171433,Intermediate nemaline myopathy,TPM3,tropomyosin 3,Disease-causing germline mutation(s) in,Assessed
171433,Intermediate nemaline myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
171433,Intermediate nemaline myopathy,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
171433,Intermediate nemaline myopathy,KLHL41,kelch like family member 41,Disease-causing germline mutation(s) (loss of function) in,Assessed
171436,Typical nemaline myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
171436,Typical nemaline myopathy,CFL2,cofilin 2,Disease-causing germline mutation(s) in,Assessed
171436,Typical nemaline myopathy,TPM2,tropomyosin 2,Disease-causing germline mutation(s) in,Assessed
171436,Typical nemaline myopathy,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
171436,Typical nemaline myopathy,KLHL41,kelch like family member 41,Disease-causing germline mutation(s) (loss of function) in,Assessed
171436,Typical nemaline myopathy,LMOD3,leiomodin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
171439,Childhood-onset nemaline myopathy,TPM2,tropomyosin 2,Disease-causing germline mutation(s) in,Assessed
171439,Childhood-onset nemaline myopathy,MYPN,myopalladin,Disease-causing germline mutation(s) (loss of function) in,Assessed
171439,Childhood-onset nemaline myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
171439,Childhood-onset nemaline myopathy,TPM3,tropomyosin 3,Disease-causing germline mutation(s) in,Assessed
171439,Childhood-onset nemaline myopathy,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
171439,Childhood-onset nemaline myopathy,KBTBD13,kelch repeat and BTB domain containing 13,Disease-causing germline mutation(s) in,Assessed
171439,Childhood-onset nemaline myopathy,KLHL41,kelch like family member 41,Disease-causing germline mutation(s) (loss of function) in,Assessed
171445,Muscle filaminopathy,FLNC,filamin C,Disease-causing germline mutation(s) in,Assessed
171607,X-linked spastic paraplegia type 34,SPG34,spastic paraplegia 34 (autosomal dominant),Disease-causing germline mutation(s) in,Assessed
2771,Bruck syndrome,PLOD2,"procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
2771,Bruck syndrome,FKBP10,FKBP prolyl isomerase 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
171612,Autosomal dominant spastic paraplegia type 37,SPG37,spastic paraplegia 37 (autosomal dominant),Disease-causing germline mutation(s) in,Assessed
171612,Autosomal dominant spastic paraplegia type 37,KPNA3,karyopherin subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
171617,Autosomal dominant spastic paraplegia type 38,SPG38,"spastic paraplegia 38 (autosomal dominant, Silver syndrome)",Disease-causing germline mutation(s) in,Assessed
1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,MT-TK,mitochondrially encoded tRNA-Lys (AAA/G),Disease-causing germline mutation(s) in,Assessed
171622,Autosomal recessive spastic paraplegia type 32,SPG32,spastic paraplegia 32 (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
171629,Autosomal recessive spastic paraplegia type 35,FA2H,fatty acid 2-hydroxylase,Disease-causing germline mutation(s) in,Assessed
861,Treacher-Collins syndrome,POLR1B,RNA polymerase I subunit B,Disease-causing germline mutation(s) in,Assessed
861,Treacher-Collins syndrome,TCOF1,treacle ribosome biogenesis factor 1,Disease-causing germline mutation(s) in,Assessed
861,Treacher-Collins syndrome,POLR1D,RNA polymerase I and III subunit D,Disease-causing germline mutation(s) in,Assessed
861,Treacher-Collins syndrome,POLR1C,RNA polymerase I and III subunit C,Disease-causing germline mutation(s) in,Assessed
308,Progressive myoclonic epilepsy type 1,CSTB,cystatin B,Disease-causing germline mutation(s) in,Assessed
308,Progressive myoclonic epilepsy type 1,SCARB2,scavenger receptor class B member 2,Disease-causing germline mutation(s) in,Assessed
308,Progressive myoclonic epilepsy type 1,PRICKLE1,prickle planar cell polarity protein 1,Disease-causing germline mutation(s) in,Assessed
199,Cornelia de Lange syndrome,SMC1A,structural maintenance of chromosomes 1A,Disease-causing germline mutation(s) in,Assessed
199,Cornelia de Lange syndrome,NIPBL,NIPBL cohesin loading factor,Disease-causing germline mutation(s) in,Assessed
199,Cornelia de Lange syndrome,SMC3,structural maintenance of chromosomes 3,Disease-causing germline mutation(s) in,Assessed
199,Cornelia de Lange syndrome,HDAC8,histone deacetylase 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
199,Cornelia de Lange syndrome,RAD21,RAD21 cohesin complex component,Disease-causing germline mutation(s) in,Assessed
199,Cornelia de Lange syndrome,BRD4,bromodomain containing 4,Disease-causing germline mutation(s) in,Assessed
930,Idiopathic achalasia,CRLF1,cytokine receptor like factor 1,Disease-causing germline mutation(s) in,Assessed
930,Idiopathic achalasia,HLA-DQA1,"major histocompatibility complex, class II, DQ alpha 1",Major susceptibility factor in,Assessed
930,Idiopathic achalasia,HLA-DQB1,"major histocompatibility complex, class II, DQ beta 1",Major susceptibility factor in,Assessed
930,Idiopathic achalasia,NOS1,nitric oxide synthase 1,Disease-causing germline mutation(s) in,Assessed
1727,22q11.2 duplication syndrome,TBX1,T-box transcription factor 1,Role in the phenotype of,Assessed
169079,Cernunnos-XLF deficiency,NHEJ1,non-homologous end joining factor 1,Disease-causing germline mutation(s) in,Assessed
168984,CLAPO syndrome,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Not yet assessed
169100,Immunodeficiency due to CD25 deficiency,IL2RA,interleukin 2 receptor subunit alpha,Disease-causing germline mutation(s) in,Assessed
169095,Severe combined immunodeficiency due to FOXN1 deficiency,FOXN1,forkhead box N1,Disease-causing germline mutation(s) in,Assessed
169082,Combined immunodeficiency due to CD3gamma deficiency,CD3G,CD3 gamma subunit of T-cell receptor complex,Disease-causing germline mutation(s) in,Assessed
169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,CD8A,CD8 subunit alpha,Disease-causing germline mutation(s) in,Assessed
168829,Primary peritoneal carcinoma,BRCA1,BRCA1 DNA repair associated,Major susceptibility factor in,Assessed
753,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency",SRD5A2,steroid 5 alpha-reductase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
868,Triose phosphate-isomerase deficiency,TPI1,triosephosphate isomerase 1,Disease-causing germline mutation(s) in,Assessed
218,Darier disease,ATP2A2,ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2,Disease-causing germline mutation(s) in,Assessed
168796,"Heart-hand syndrome, Slovenian type",LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,ARID2,AT-rich interaction domain 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1465,Coffin-Siris syndrome,SMARCB1,SWI/SNF related BAF chromatin remodeling complex subunit B1,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,SMARCA4,SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,ARID1B,AT-rich interaction domain 1B,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,ARID1A,AT-rich interaction domain 1A,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,SMARCE1,SWI/SNF related BAF chromatin remodeling complex subunit E1,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,SOX11,SRY-box transcription factor 11,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,SOX4,SRY-box transcription factor 4,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,DPF2,double PHD fingers 2,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,SMARCD1,SWI/SNF related BAF chromatin remodeling complex subunit D1,Disease-causing germline mutation(s) in,Assessed
1465,Coffin-Siris syndrome,SMARCC2,SWI/SNF related BAF chromatin remodeling complex subunit C2,Disease-causing germline mutation(s) in,Assessed
168953,Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,FGFR1,fibroblast growth factor receptor 1,Part of a fusion gene in,Assessed
168950,Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,PDGFRB,platelet derived growth factor receptor beta,Part of a fusion gene in,Assessed
168947,Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,PDGFRA,platelet derived growth factor receptor alpha,Part of a fusion gene in,Assessed
168940,Chronic eosinophilic leukemia,FIP1L1,factor interacting with PAPOLA and CPSF1,Part of a fusion gene in,Assessed
168940,Chronic eosinophilic leukemia,PDGFRA,platelet derived growth factor receptor alpha,Part of a fusion gene in,Assessed
2609,Isolated complex I deficiency,TMEM126B,transmembrane protein 126B,Disease-causing germline mutation(s) (loss of function) in,Assessed
2609,Isolated complex I deficiency,NDUFAF8,NADH:ubiquinone oxidoreductase complex assembly factor 8,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,TIMMDC1,translocase of inner mitochondrial membrane domain containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2609,Isolated complex I deficiency,NDUFB11,NADH:ubiquinone oxidoreductase subunit B11,Candidate gene tested in,Not yet assessed
2609,Isolated complex I deficiency,NDUFA6,NADH:ubiquinone oxidoreductase subunit A6,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,MT-ND1,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,MT-ND2,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,MT-ND3,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFAF2,NADH:ubiquinone oxidoreductase complex assembly factor 2,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS1,NADH:ubiquinone oxidoreductase core subunit S1,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS2,NADH:ubiquinone oxidoreductase core subunit S2,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS3,NADH:ubiquinone oxidoreductase core subunit S3,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS4,NADH:ubiquinone oxidoreductase subunit S4,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS6,NADH:ubiquinone oxidoreductase subunit S6,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS7,NADH:ubiquinone oxidoreductase core subunit S7,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFS8,NADH:ubiquinone oxidoreductase core subunit S8,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFV1,NADH:ubiquinone oxidoreductase core subunit V1,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFV2,NADH:ubiquinone oxidoreductase core subunit V2,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFA1,NADH:ubiquinone oxidoreductase subunit A1,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFAF4,NADH:ubiquinone oxidoreductase complex assembly factor 4,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFAF5,NADH:ubiquinone oxidoreductase complex assembly factor 5,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFA11,NADH:ubiquinone oxidoreductase subunit A11,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFAF3,NADH:ubiquinone oxidoreductase complex assembly factor 3,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NUBPL,"NUBP iron-sulfur cluster assembly factor, mitochondrial",Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,FOXRED1,FAD dependent oxidoreductase domain containing 1,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFAF1,NADH:ubiquinone oxidoreductase complex assembly factor 1,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFB9,NADH:ubiquinone oxidoreductase subunit B9,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFB3,NADH:ubiquinone oxidoreductase subunit B3,Disease-causing germline mutation(s) in,Assessed
2609,Isolated complex I deficiency,NDUFB10,NADH:ubiquinone oxidoreductase subunit B10,Disease-causing germline mutation(s) in,Assessed
626,Large/giant congenital melanocytic nevus,ZEB2,zinc finger E-box binding homeobox 2,Part of a fusion gene in,Assessed
626,Large/giant congenital melanocytic nevus,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Part of a fusion gene in,Assessed
626,Large/giant congenital melanocytic nevus,RAF1,"Raf-1 proto-oncogene, serine/threonine kinase",Part of a fusion gene in,Assessed
626,Large/giant congenital melanocytic nevus,ALK,ALK receptor tyrosine kinase,Part of a fusion gene in,Assessed
626,Large/giant congenital melanocytic nevus,NRAS,"NRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
626,Large/giant congenital melanocytic nevus,SOX5,SRY-box transcription factor 5,Part of a fusion gene in,Assessed
626,Large/giant congenital melanocytic nevus,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
773,Adult Refsum disease,PHYH,phytanoyl-CoA 2-hydroxylase,Disease-causing germline mutation(s) in,Assessed
773,Adult Refsum disease,PEX7,peroxisomal biogenesis factor 7,Disease-causing germline mutation(s) in,Assessed
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,IL7R,interleukin 7 receptor,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C5,complement C5,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C6,complement C6,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C7,complement C7,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C8A,complement C8 alpha chain,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C8B,complement C8 beta chain,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C8G,complement C8 gamma chain,Disease-causing germline mutation(s) in,Assessed
169150,Immunodeficiency due to a late component of complement deficiency,C9,complement C9,Disease-causing germline mutation(s) in,Assessed
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,CD3D,CD3 delta subunit of T-cell receptor complex,Disease-causing germline mutation(s) in,Assessed
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,CD3E,CD3 epsilon subunit of T-cell receptor complex,Disease-causing germline mutation(s) in,Assessed
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,CD247,CD247 molecule,Disease-causing germline mutation(s) in,Assessed
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,PTPRC,protein tyrosine phosphatase receptor type C,Disease-causing germline mutation(s) in,Assessed
1947,Northern epilepsy,CLN8,CLN8 transmembrane ER and ERGIC protein,Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C2,complement C2,Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C4A,complement C4A (Chido/Rodgers blood group),Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C4B,complement C4B (Chido/Rodgers blood group),Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C1QA,complement C1q A chain,Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C1QB,complement C1q B chain,Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C1QC,complement C1q C chain,Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C1S,complement C1s,Disease-causing germline mutation(s) in,Assessed
169147,Immunodeficiency due to a classical component pathway complement deficiency,C1R,complement C1r,Disease-causing germline mutation(s) in,Assessed
169142,Recurrent infections due to specific granule deficiency,CEBPE,CCAAT enhancer binding protein epsilon,Disease-causing germline mutation(s) (loss of function) in,Assessed
169142,Recurrent infections due to specific granule deficiency,SMARCD2,SWI/SNF related BAF chromatin remodeling complex subunit D2,Disease-causing germline mutation(s) (loss of function) in,Assessed
596,X-linked centronuclear myopathy,MTM1,myotubularin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
610,Bethlem muscular dystrophy,COL6A1,collagen type VI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
610,Bethlem muscular dystrophy,COL6A2,collagen type VI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
610,Bethlem muscular dystrophy,COL6A3,collagen type VI alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
610,Bethlem muscular dystrophy,COL12A1,collagen type XII alpha 1 chain,Disease-causing germline mutation(s) (gain of function) in,Assessed
169186,Autosomal recessive centronuclear myopathy,TTN,titin,Disease-causing germline mutation(s) in,Assessed
169186,Autosomal recessive centronuclear myopathy,SPEG,striated muscle enriched protein kinase,Disease-causing germline mutation(s) in,Assessed
169186,Autosomal recessive centronuclear myopathy,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
169186,Autosomal recessive centronuclear myopathy,BIN1,bridging integrator 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
464,Incontinentia pigmenti,IKBKG,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,Disease-causing germline mutation(s) in,Assessed
169189,Autosomal dominant centronuclear myopathy,RYR1,ryanodine receptor 1,Candidate gene tested in,Not yet assessed
169189,Autosomal dominant centronuclear myopathy,DNM2,dynamin 2,Disease-causing germline mutation(s) in,Assessed
169189,Autosomal dominant centronuclear myopathy,MYF6,myogenic factor 6,Candidate gene tested in,Not yet assessed
169189,Autosomal dominant centronuclear myopathy,BIN1,bridging integrator 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
169189,Autosomal dominant centronuclear myopathy,MTMR14,myotubularin related protein 14,Candidate gene tested in,Not yet assessed
44,Neonatal adrenoleukodystrophy,PEX2,peroxisomal biogenesis factor 2,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX1,peroxisomal biogenesis factor 1,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX10,peroxisomal biogenesis factor 10,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX12,peroxisomal biogenesis factor 12,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX13,peroxisomal biogenesis factor 13,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX14,peroxisomal biogenesis factor 14,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX16,peroxisomal biogenesis factor 16,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX19,peroxisomal biogenesis factor 19,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX26,peroxisomal biogenesis factor 26,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX3,peroxisomal biogenesis factor 3,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX5,peroxisomal biogenesis factor 5,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX6,peroxisomal biogenesis factor 6,Disease-causing germline mutation(s) in,Assessed
44,Neonatal adrenoleukodystrophy,PEX11B,peroxisomal biogenesis factor 11 beta,Disease-causing germline mutation(s) in,Assessed
56,Alkaptonuria,HGD,"homogentisate 1,2-dioxygenase",Disease-causing germline mutation(s) (loss of function) in,Assessed
963,Acromegaly,AIP,AHR interacting HSP90 co-chaperone,Major susceptibility factor in,Assessed
963,Acromegaly,GPR101,G protein-coupled receptor 101,Major susceptibility factor in,Assessed
1059,Blue rubber bleb nevus,TEK,TEK receptor tyrosine kinase,Disease-causing somatic mutation(s) in,Assessed
22,Succinic semialdehyde dehydrogenase deficiency,ALDH5A1,aldehyde dehydrogenase 5 family member A1,Disease-causing germline mutation(s) in,Assessed
29,Mevalonic aciduria,MVK,mevalonate kinase,Disease-causing germline mutation(s) in,Assessed
245,Nager syndrome,SF3B4,splicing factor 3b subunit 4,Disease-causing germline mutation(s) in,Assessed
30,Hereditary orotic aciduria,UMPS,uridine monophosphate synthetase,Disease-causing germline mutation(s) (loss of function) in,Assessed
36,Acrocallosal syndrome,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
36,Acrocallosal syndrome,KIF7,kinesin family member 7,Disease-causing germline mutation(s) in,Assessed
915,Aarskog-Scott syndrome,FGD1,"FYVE, RhoGEF and PH domain containing 1",Disease-causing germline mutation(s) in,Assessed
2614,Nail-patella syndrome,LMX1B,LIM homeobox transcription factor 1 beta,Disease-causing germline mutation(s) in,Assessed
33,Isovaleric acidemia,IVD,isovaleryl-CoA dehydrogenase,Disease-causing germline mutation(s) in,Assessed
819,Smith-Magenis syndrome,RAI1,retinoic acid induced 1,Disease-causing germline mutation(s) in,Assessed
819,Smith-Magenis syndrome,IQSEC2,IQ motif and Sec7 domain ArfGEF 2,Candidate gene tested in,Not yet assessed
168615,Hereditary persistence of alpha-fetoprotein,AFP,alpha fetoprotein,Disease-causing germline mutation(s) in,Assessed
168612,Congenital deficiency in alpha-fetoprotein,AFP,alpha fetoprotein,Disease-causing germline mutation(s) in,Assessed
1452,Cleidocranial dysplasia,RUNX2,RUNX family transcription factor 2,Disease-causing germline mutation(s) in,Assessed
168629,Autosomal thrombocytopenia with normal platelets,IKZF5,IKAROS family zinc finger 5,Disease-causing germline mutation(s) in,Assessed
168629,Autosomal thrombocytopenia with normal platelets,ETV6,ETS variant transcription factor 6,Disease-causing germline mutation(s) in,Assessed
168629,Autosomal thrombocytopenia with normal platelets,MASTL,microtubule associated serine/threonine kinase like,Disease-causing germline mutation(s) in,Assessed
168629,Autosomal thrombocytopenia with normal platelets,CYCS,"cytochrome c, somatic",Disease-causing germline mutation(s) in,Assessed
168629,Autosomal thrombocytopenia with normal platelets,ANKRD26,ankyrin repeat domain 26,Disease-causing germline mutation(s) in,Assessed
193,Cohen syndrome,VPS13B,vacuolar protein sorting 13 homolog B,Disease-causing germline mutation(s) in,Assessed
168624,"Familial scaphocephaly syndrome, McGillivray type",FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) in,Assessed
1334,Chronic mucocutaneous candidiasis,CLEC7A,C-type lectin domain containing 7A,Disease-causing germline mutation(s) in,Assessed
1334,Chronic mucocutaneous candidiasis,IL17RA,interleukin 17 receptor A,Disease-causing germline mutation(s) in,Assessed
1334,Chronic mucocutaneous candidiasis,IL17F,interleukin 17F,Disease-causing germline mutation(s) in,Assessed
1334,Chronic mucocutaneous candidiasis,TRAF3IP2,TRAF3 interacting protein 2,Disease-causing germline mutation(s) in,Assessed
1334,Chronic mucocutaneous candidiasis,IL17RC,interleukin 17 receptor C,Disease-causing germline mutation(s) (loss of function) in,Assessed
168583,Hereditary North American Indian childhood cirrhosis,UTP4,UTP4 small subunit processome component,Disease-causing germline mutation(s) in,Assessed
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,TKFC,triokinase and FMN cyclase,Disease-causing germline mutation(s) in,Assessed
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,SLC25A4,solute carrier family 25 member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,AGK,acylglycerol kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
168577,Hereditary cryohydrocytosis with reduced stomatin,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) in,Assessed
168593,Sudden infant death-dysgenesis of the testes syndrome,TSPYL1,TSPY like 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
168588,Hyperandrogenism due to cortisone reductase deficiency,H6PD,hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
168588,Hyperandrogenism due to cortisone reductase deficiency,HSD11B1,hydroxysteroid 11-beta dehydrogenase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
168601,Congenital enteropathy due to enteropeptidase deficiency,TMPRSS15,transmembrane serine protease 15,Disease-causing germline mutation(s) in,Assessed
168598,Methionine adenosyltransferase I/III deficiency,MAT1A,methionine adenosyltransferase 1A,Disease-causing germline mutation(s) in,Assessed
168606,Seborrhea-like dermatitis with psoriasiform elements,ZNF750,zinc finger protein 750,Disease-causing germline mutation(s) in,Assessed
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,PIEZO2,piezo type mechanosensitive ion channel component 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",CYP11A1,cytochrome P450 family 11 subfamily A member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",DHH,desert hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL18,ribosomal protein L18,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS27,ribosomal protein S27,Candidate gene tested in,Not yet assessed
124,Diamond-Blackfan anemia,RPL27,ribosomal protein L27,Candidate gene tested in,Not yet assessed
124,Diamond-Blackfan anemia,RPS15A,ribosomal protein S15a,Disease-causing germline mutation(s) (loss of function) in,Assessed
124,Diamond-Blackfan anemia,TSR2,TSR2 ribosome maturation factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
124,Diamond-Blackfan anemia,RPL35,ribosomal protein L35,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL8,ribosomal protein L8,Disease-causing germline mutation(s) (loss of function) in,Assessed
124,Diamond-Blackfan anemia,HEATR3,HEAT repeat containing 3,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL31,ribosomal protein L31,Candidate gene tested in,Not yet assessed
124,Diamond-Blackfan anemia,RPL9,ribosomal protein L9,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,ADA2,adenosine deaminase 2,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS20,ribosomal protein S20,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS19,ribosomal protein S19,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS24,ribosomal protein S24,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,GATA1,GATA binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
124,Diamond-Blackfan anemia,RPS17,ribosomal protein S17,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS7,ribosomal protein S7,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL5,ribosomal protein L5,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL11,ribosomal protein L11,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL35A,ribosomal protein L35a,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS10,ribosomal protein S10,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS26,ribosomal protein S26,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL26,ribosomal protein L26,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPL15,ribosomal protein L15,Disease-causing germline mutation(s) in,Assessed
124,Diamond-Blackfan anemia,RPS29,ribosomal protein S29,Disease-causing germline mutation(s) (loss of function) in,Assessed
124,Diamond-Blackfan anemia,RPS28,ribosomal protein S28,Disease-causing germline mutation(s) (loss of function) in,Assessed
168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,TSFM,"Ts translation elongation factor, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
1310,Caffey disease,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
168569,H syndrome,SLC29A3,solute carrier family 29 member 3,Disease-causing germline mutation(s) in,Assessed
168572,Native American myopathy,STAC3,SH3 and cysteine rich domain 3,Disease-causing germline mutation(s) in,Assessed
125,Bloom syndrome,BLM,BLM RecQ like helicase,Disease-causing germline mutation(s) in,Assessed
90,Argininemia,ARG1,arginase 1,Disease-causing germline mutation(s) in,Assessed
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,ITPR1,"inositol 1,4,5-trisphosphate receptor type 1",Disease-causing germline mutation(s) in,Assessed
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",NANS,N-acetylneuraminate synthase,Disease-causing germline mutation(s) (loss of function) in,Assessed
1146,Distal arthrogryposis type 1,NALCN,"sodium leak channel, non-selective",Disease-causing germline mutation(s) in,Assessed
1146,Distal arthrogryposis type 1,TNNI2,"troponin I2, fast skeletal type",Disease-causing germline mutation(s) in,Assessed
1146,Distal arthrogryposis type 1,TNNT3,"troponin T3, fast skeletal type",Disease-causing germline mutation(s) in,Assessed
1146,Distal arthrogryposis type 1,TPM2,tropomyosin 2,Disease-causing germline mutation(s) in,Assessed
1146,Distal arthrogryposis type 1,MYH3,myosin heavy chain 3,Disease-causing germline mutation(s) in,Assessed
1146,Distal arthrogryposis type 1,MYBPC1,myosin binding protein C1,Disease-causing germline mutation(s) in,Assessed
1143,Neurogenic arthrogryposis multiplex congenita,SCYL2,SCY1 like pseudokinase 2,Disease-causing germline mutation(s) in,Assessed
1143,Neurogenic arthrogryposis multiplex congenita,COL25A1,collagen type XXV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
1143,Neurogenic arthrogryposis multiplex congenita,ERGIC1,endoplasmic reticulum-golgi intermediate compartment 1,Disease-causing germline mutation(s) in,Assessed
1147,Sheldon-Hall syndrome,NALCN,"sodium leak channel, non-selective",Disease-causing germline mutation(s) in,Assessed
1147,Sheldon-Hall syndrome,TNNI2,"troponin I2, fast skeletal type",Disease-causing germline mutation(s) in,Assessed
1147,Sheldon-Hall syndrome,TNNT3,"troponin T3, fast skeletal type",Disease-causing germline mutation(s) in,Assessed
1147,Sheldon-Hall syndrome,TPM2,tropomyosin 2,Disease-causing germline mutation(s) in,Assessed
1147,Sheldon-Hall syndrome,MYH3,myosin heavy chain 3,Disease-causing germline mutation(s) in,Assessed
246,Postaxial acrofacial dysostosis,DHODH,dihydroorotate dehydrogenase (quinone),Disease-causing germline mutation(s) (loss of function) in,Assessed
1770,XY type gonadal dysgenesis-associated anomalies syndrome,PPP2R3C,protein phosphatase 2 regulatory subunit B''gamma,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,NPM1,nucleophosmin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1775,Dyskeratosis congenita,DKC1,dyskerin pseudouridine synthase 1,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,TERT,telomerase reverse transcriptase,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,TERC,telomerase RNA component,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,TINF2,TERF1 interacting nuclear factor 2,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,NOP10,NOP10 ribonucleoprotein,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,NHP2,NHP2 ribonucleoprotein,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,USB1,U6 snRNA biogenesis phosphodiesterase 1,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,WRAP53,WD repeat containing antisense to TP53,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,CTC1,CST telomere replication complex component 1,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,RTEL1,regulator of telomere elongation helicase 1,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,PARN,poly(A)-specific ribonuclease,Disease-causing germline mutation(s) in,Assessed
1775,Dyskeratosis congenita,TYMS,thymidylate synthetase,Disease-causing germline mutation(s) in,Assessed
1764,Familial dysautonomia,ELP1,elongator complex protein 1,Disease-causing germline mutation(s) in,Assessed
235,Dubowitz syndrome,LIG4,DNA ligase 4,Disease-causing germline mutation(s) in,Assessed
235,Dubowitz syndrome,NSUN2,NOP2/Sun RNA methyltransferase 2,Disease-causing germline mutation(s) in,Assessed
239,Dyggve-Melchior-Clausen disease,DYM,dymeclin,Disease-causing germline mutation(s) (loss of function) in,Assessed
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,MTHFR,methylenetetrahydrofolate reductase,Disease-causing germline mutation(s) in,Assessed
147,Carbamoyl-phosphate synthetase 1 deficiency,CPS1,carbamoyl-phosphate synthase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
23,Argininosuccinic aciduria,ASL,argininosuccinate lyase,Disease-causing germline mutation(s) (loss of function) in,Assessed
45,Adenosine monophosphate deaminase deficiency,AMPD1,adenosine monophosphate deaminase 1,Disease-causing germline mutation(s) in,Assessed
45,Adenosine monophosphate deaminase deficiency,AMPD3,adenosine monophosphate deaminase 3,Disease-causing germline mutation(s) in,Assessed
226,Dihydropteridine reductase deficiency,QDPR,quinoid dihydropteridine reductase,Disease-causing germline mutation(s) in,Assessed
1556,Cutis marmorata telangiectatica congenita,GNA11,G protein subunit alpha 11,Disease-causing somatic mutation(s) in,Assessed
1556,Cutis marmorata telangiectatica congenita,ARL6IP6,ARF like GTPase 6 interacting protein 6,Candidate gene tested in,Not yet assessed
1496,Corpus callosum agenesis-neuronopathy syndrome,SLC12A6,solute carrier family 12 member 6,Disease-causing germline mutation(s) in,Assessed
417,Neonatal severe primary hyperparathyroidism,TRPV6,transient receptor potential cation channel subfamily V member 6,Disease-causing germline mutation(s) in,Assessed
417,Neonatal severe primary hyperparathyroidism,CASR,calcium sensing receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
2248,Hypoplastic left heart syndrome,GJA1,gap junction protein alpha 1,Major susceptibility factor in,Assessed
2248,Hypoplastic left heart syndrome,NKX2-5,NK2 homeobox 5,Major susceptibility factor in,Assessed
2140,Congenital diaphragmatic hernia,LONP1,"lon peptidase 1, mitochondrial",Major susceptibility factor in,Assessed
2140,Congenital diaphragmatic hernia,ZFPM2,"zinc finger protein, FOG family member 2",Major susceptibility factor in,Assessed
2140,Congenital diaphragmatic hernia,GATA6,GATA binding protein 6,Major susceptibility factor in,Assessed
2116,Hartnup disease,CLTRN,"collectrin, amino acid transport regulator",Disease-causing germline mutation(s) in,Assessed
2116,Hartnup disease,SLC6A19,solute carrier family 6 member 19,Disease-causing germline mutation(s) in,Assessed
2118,Hawkinsinuria,HPD,4-hydroxyphenylpyruvate dioxygenase,Candidate gene tested in,Not yet assessed
351,Galactosialidosis,CTSA,cathepsin A,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,MAP3K20,mitogen-activated protein kinase kinase kinase 20,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,SELENON,selenoprotein N,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,TPM2,tropomyosin 2,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,TPM3,tropomyosin 3,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,MYL2,myosin light chain 2,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,ITGA7,integrin subunit alpha 7,Disease-causing germline mutation(s) in,Assessed
2020,Congenital fiber-type disproportion myopathy,HACD1,3-hydroxyacyl-CoA dehydratase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2053,Freeman-Sheldon syndrome,NALCN,"sodium leak channel, non-selective",Disease-causing germline mutation(s) in,Assessed
2053,Freeman-Sheldon syndrome,MYH3,myosin heavy chain 3,Disease-causing germline mutation(s) in,Assessed
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",SUCLA2,succinate-CoA ligase ADP-forming subunit beta,Disease-causing germline mutation(s) in,Assessed
1880,Ebstein malformation of the tricuspid valve,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
1885,Isolated ectopia lentis,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
1885,Isolated ectopia lentis,ADAMTSL4,ADAMTS like 4,Disease-causing germline mutation(s) in,Assessed
635,Neuroblastoma,MYCN,"MYCN proto-oncogene, bHLH transcription factor",Biomarker tested in,Assessed
635,Neuroblastoma,LMO1,LIM domain only 1,Major susceptibility factor in,Assessed
635,Neuroblastoma,PHOX2B,paired like homeobox 2B,Major susceptibility factor in,Assessed
635,Neuroblastoma,ALK,ALK receptor tyrosine kinase,Major susceptibility factor in,Assessed
635,Neuroblastoma,HACE1,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,Major susceptibility factor in,Assessed
635,Neuroblastoma,LIN28B,lin-28 RNA binding posttranscriptional regulator B,Major susceptibility factor in,Assessed
2612,Linear nevus sebaceus syndrome,HRAS,"HRas proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
2612,Linear nevus sebaceus syndrome,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
2612,Linear nevus sebaceus syndrome,NRAS,"NRAS proto-oncogene, GTPase",Candidate gene tested in,Not yet assessed
2635,Metatropic dysplasia,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) in,Assessed
606,Proximal myotonic myopathy,CNBP,CCHC-type zinc finger nucleic acid binding protein,Disease-causing germline mutation(s) in,Assessed
705,Pendred syndrome,SLC26A4,solute carrier family 26 member 4,Disease-causing germline mutation(s) in,Assessed
705,Pendred syndrome,KCNJ10,potassium inwardly rectifying channel subfamily J member 10,Disease-causing germline mutation(s) in,Assessed
705,Pendred syndrome,FOXI1,forkhead box I1,Disease-causing germline mutation(s) in,Assessed
2801,Juvenile Paget disease,TNFRSF11B,TNF receptor superfamily member 11b,Disease-causing germline mutation(s) in,Assessed
2801,Juvenile Paget disease,TNFRSF11A,TNF receptor superfamily member 11a,Candidate gene tested in,Not yet assessed
2785,Osteopetrosis with renal tubular acidosis,CA2,carbonic anhydrase 2,Disease-causing germline mutation(s) in,Assessed
2744,Horizontal gaze palsy with progressive scoliosis,DCC,DCC netrin 1 receptor,Disease-causing germline mutation(s) in,Assessed
2744,Horizontal gaze palsy with progressive scoliosis,ROBO3,roundabout guidance receptor 3,Disease-causing germline mutation(s) in,Assessed
2746,Opsismodysplasia,INPPL1,inositol polyphosphate phosphatase like 1,Disease-causing germline mutation(s) in,Assessed
2971,Peroxisomal acyl-CoA oxidase deficiency,ACOX1,acyl-CoA oxidase 1,Disease-causing germline mutation(s) in,Assessed
2970,Prune belly syndrome,CHRM3,cholinergic receptor muscarinic 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
744,Proteus syndrome,AKT1,AKT serine/threonine kinase 1,Disease-causing somatic mutation(s) in,Assessed
2903,Familial spontaneous pneumothorax,FLCN,folliculin,Disease-causing germline mutation(s) in,Assessed
2901,Neuralgic amyotrophy,SEPTIN9,septin 9,Major susceptibility factor in,Assessed
718,Isolated Pierre Robin sequence,SOX9,SRY-box transcription factor 9,Disease-causing germline mutation(s) in,Assessed
3071,Costello syndrome,HRAS,"HRas proto-oncogene, GTPase",Disease-causing germline mutation(s) (gain of function) in,Assessed
763,Pycnodysostosis,CTSK,cathepsin K,Disease-causing germline mutation(s) (loss of function) in,Assessed
2301,Congenital short bowel syndrome,FLNA,filamin A,Disease-causing germline mutation(s) in,Assessed
2301,Congenital short bowel syndrome,CLMP,CXADR like cell adhesion molecule,Disease-causing germline mutation(s) (loss of function) in,Assessed
469,Hereditary fructose intolerance,ALDOB,"aldolase, fructose-bisphosphate B",Disease-causing germline mutation(s) in,Assessed
2308,Jacobsen syndrome,FLI1,"Fli-1 proto-oncogene, ETS transcription factor",Role in the phenotype of,Assessed
2318,Joubert syndrome with oculorenal defect,CEP290,centrosomal protein 290,Disease-causing germline mutation(s) in,Assessed
2318,Joubert syndrome with oculorenal defect,CC2D2A,coiled-coil and C2 domain containing 2A,Disease-causing germline mutation(s) in,Assessed
2318,Joubert syndrome with oculorenal defect,TMEM216,transmembrane protein 216,Disease-causing germline mutation(s) in,Assessed
2318,Joubert syndrome with oculorenal defect,TMEM237,transmembrane protein 237,Disease-causing germline mutation(s) in,Assessed
2318,Joubert syndrome with oculorenal defect,TMEM138,transmembrane protein 138,Disease-causing germline mutation(s) (loss of function) in,Assessed
2318,Joubert syndrome with oculorenal defect,ZNF423,zinc finger protein 423,Disease-causing germline mutation(s) in,Assessed
2318,Joubert syndrome with oculorenal defect,TMEM231,transmembrane protein 231,Disease-causing germline mutation(s) in,Assessed
2253,Foveal hypoplasia-presenile cataract syndrome,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
180188,Isolated congenital breast hypoplasia/aplasia,PTPRF,protein tyrosine phosphatase receptor type F,Disease-causing germline mutation(s) (loss of function) in,Assessed
502,Trichorhinophalangeal syndrome type 2,RAD21,RAD21 cohesin complex component,Role in the phenotype of,Assessed
502,Trichorhinophalangeal syndrome type 2,TRPS1,transcriptional repressor GATA binding 1,Role in the phenotype of,Assessed
502,Trichorhinophalangeal syndrome type 2,EXT1,exostosin glycosyltransferase 1,Role in the phenotype of,Assessed
477,KID syndrome,GJB2,gap junction protein beta 2,Disease-causing germline mutation(s) in,Assessed
477,KID syndrome,GJB6,gap junction protein beta 6,Disease-causing germline mutation(s) in,Assessed
506,Leigh syndrome,IARS2,"isoleucyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
2377,Laurence-Moon syndrome,PNPLA6,"patatin like domain 6, lysophospholipase",Disease-causing germline mutation(s) (loss of function) in,Assessed
2466,MASA syndrome,L1CAM,L1 cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
560,Marshall syndrome,COL11A1,collagen type XI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
570,Moebius syndrome,PLXND1,plexin D1,Disease-causing germline mutation(s) in,Assessed
570,Moebius syndrome,REV3L,"REV3 like, DNA directed polymerase zeta catalytic subunit",Disease-causing germline mutation(s) in,Assessed
179494,Obesity due to leptin receptor gene deficiency,LEPR,leptin receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
287,Classical Ehlers-Danlos syndrome,COL5A2,collagen type V alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
287,Classical Ehlers-Danlos syndrome,COL5A1,collagen type V alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
287,Classical Ehlers-Danlos syndrome,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
1020,Early-onset autosomal dominant Alzheimer disease,TREM2,triggering receptor expressed on myeloid cells 2,Candidate gene tested in,Not yet assessed
1020,Early-onset autosomal dominant Alzheimer disease,PSEN1,presenilin 1,Disease-causing germline mutation(s) in,Assessed
1020,Early-onset autosomal dominant Alzheimer disease,PSEN2,presenilin 2,Disease-causing germline mutation(s) in,Assessed
1020,Early-onset autosomal dominant Alzheimer disease,APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
1020,Early-onset autosomal dominant Alzheimer disease,SORL1,sortilin related receptor 1,Disease-causing germline mutation(s) in,Assessed
1020,Early-onset autosomal dominant Alzheimer disease,TOMM40,translocase of outer mitochondrial membrane 40,Biomarker tested in,Not yet assessed
54,X-linked recessive ocular albinism,AP3D1,adaptor related protein complex 3 subunit delta 1,Candidate gene tested in,Not yet assessed
54,X-linked recessive ocular albinism,GPR143,G protein-coupled receptor 143,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TAF1A,"TATA-box binding protein associated factor, RNA polymerase I subunit A",Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,GET3,"guided entry of tail-anchored proteins factor 3, ATPase",Disease-causing germline mutation(s) (loss of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,VEZF1,vascular endothelial zinc finger 1,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,RPL3L,ribosomal protein L3 like,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,MYBPC3,myosin binding protein C3,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,JPH2,junctophilin 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,PPCS,phosphopantothenoylcysteine synthetase,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,CAP2,cyclase associated actin cytoskeleton regulatory protein 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,LMOD2,leiomodin 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,ABCC9,ATP binding cassette subfamily C member 9,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,ACTC1,actin alpha cardiac muscle 1,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,PSEN1,presenilin 1,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,PSEN2,presenilin 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,SDHA,succinate dehydrogenase complex flavoprotein subunit A,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,SGCD,sarcoglycan delta,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TAFAZZIN,"tafazzin, phospholipid-lysophospholipid transacylase",Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TCAP,titin-cap,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TNNI3,"troponin I3, cardiac type",Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TNNT2,"troponin T2, cardiac type",Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TPM1,tropomyosin 1,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TTN,titin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,CRYAB,crystallin alpha B,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,CSRP3,cysteine and glycine rich protein 3,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,DES,desmin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,DMD,dystrophin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,DSG2,desmoglein 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,FKTN,fukutin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,LDB3,LIM domain binding 3,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,DOLK,dolichol kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,MYH6,myosin heavy chain 6,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,RAF1,"Raf-1 proto-oncogene, serine/threonine kinase",Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TMPO,thymopoietin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,TNNC1,"troponin C1, slow skeletal and cardiac type",Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,VCL,vinculin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,ACTN2,actinin alpha 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,FHL2,four and a half LIM domains 2,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,PLN,phospholamban,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,BAG3,BAG cochaperone 3,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,RBM20,RNA binding motif protein 20,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,NEXN,nexilin F-actin binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,TXNRD2,thioredoxin reductase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,GATAD1,GATA zinc finger domain containing 1,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,MYPN,myopalladin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,LAMA4,laminin subunit alpha 4,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,PRDM16,PR/SET domain 16,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,ANKRD1,ankyrin repeat domain 1,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
154,Familial isolated dilated cardiomyopathy,HAND2,heart and neural crest derivatives expressed 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,BAG5,BAG cochaperone 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
154,Familial isolated dilated cardiomyopathy,C10ORF71,chromosome 10 open reading frame 71,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,RAD51,RAD51 recombinase,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,MAD2L2,mitotic arrest deficient 2 like 2,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,BRCA1,BRCA1 DNA repair associated,Disease-causing germline mutation(s) (loss of function) in,Assessed
84,Fanconi anemia,XRCC2,X-ray repair cross complementing 2,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FAAP100,FA core complex associated protein 100,Disease-causing germline mutation(s) (loss of function) in,Assessed
84,Fanconi anemia,RFWD3,ring finger and WD repeat domain 3,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,BRCA2,BRCA2 DNA repair associated,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,BRIP1,BRCA1 interacting DNA helicase 1,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,ERCC4,"ERCC excision repair 4, endonuclease catalytic subunit",Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCA,FA complementation group A,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCB,FA complementation group B,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCC,FA complementation group C,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCD2,FA complementation group D2,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCE,FA complementation group E,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCF,FA complementation group F,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCG,FA complementation group G,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCL,FA complementation group L,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCM,FA complementation group M,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,FANCI,FA complementation group I,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,PALB2,partner and localizer of BRCA2,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,RAD51C,RAD51 paralog C,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,SLX4,SLX4 structure-specific endonuclease subunit,Disease-causing germline mutation(s) in,Assessed
84,Fanconi anemia,UBE2T,ubiquitin conjugating enzyme E2 T,Disease-causing germline mutation(s) in,Assessed
816,Sjögren-Larsson syndrome,ALDH3A2,aldehyde dehydrogenase 3 family member A2,Disease-causing germline mutation(s) in,Assessed
821,Sotos syndrome,NSD1,nuclear receptor binding SET domain protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
821,Sotos syndrome,APC2,APC regulator of Wnt signaling pathway 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
3204,Stormorken-Sjaastad-Langslet syndrome,ORAI1,ORAI calcium release-activated calcium modulator 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
3204,Stormorken-Sjaastad-Langslet syndrome,STIM1,stromal interaction molecule 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
3205,Sturge-Weber syndrome,GNAQ,G protein subunit alpha q,Disease-causing somatic mutation(s) in,Assessed
3320,Thrombocytopenia-absent radius syndrome,RBM8A,RNA binding motif protein 8A,Disease-causing germline mutation(s) in,Assessed
887,VACTERL/VATER association,HOXD13,homeobox D13,Candidate gene tested in,Not yet assessed
909,Cerebrotendinous xanthomatosis,CYP27A1,cytochrome P450 family 27 subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
3447,Weaver syndrome,NSD1,nuclear receptor binding SET domain protein 1,Candidate gene tested in,Not yet assessed
3447,Weaver syndrome,EZH2,enhancer of zeste 2 polycomb repressive complex 2 subunit,Disease-causing germline mutation(s) in,Assessed
3447,Weaver syndrome,SUZ12,SUZ12 polycomb repressive complex 2 subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
1422,Chondrodysplasia-difference of sex development syndrome,HHAT,hedgehog acyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,KCNQ2,potassium voltage-gated channel subfamily Q member 2,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,ERBB4,erb-b2 receptor tyrosine kinase 4,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,BRSK2,BR serine/threonine kinase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,SLC6A1,solute carrier family 6 member 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,SETD1B,"SET domain containing 1B, histone lysine methyltransferase",Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CLTC,clathrin heavy chain,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,ITSN1,intersectin 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,PRICKLE2,prickle planar cell polarity protein 2,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,HIVEP2,HIVEP zinc finger 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,KDM5B,lysine demethylase 5B,Candidate gene tested in,Not yet assessed
178469,Autosomal dominant non-syndromic intellectual disability,GABBR1,gamma-aminobutyric acid type B receptor subunit 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,DPYSL2,dihydropyrimidinase like 2,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,SET,SET nuclear proto-oncogene,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,ARF3,ARF GTPase 3,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CACNA1I,calcium voltage-gated channel subunit alpha1 I,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,RAB11A,"RAB11A, member RAS oncogene family",Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,PPP3CA,protein phosphatase 3 catalytic subunit alpha,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,GRIA1,glutamate ionotropic receptor AMPA type subunit 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,KCNQ5,potassium voltage-gated channel subfamily Q member 5,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,SCN8A,sodium voltage-gated channel alpha subunit 8,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,TAOK1,TAO kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,TRPM3,transient receptor potential cation channel subfamily M member 3,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,NBEA,neurobeachin,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CIC,capicua transcriptional repressor,Disease-causing germline mutation(s) (loss of function) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CSNK2B,casein kinase 2 beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,ASH1L,ASH1 like histone lysine methyltransferase,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,SEMA6B,semaphorin 6B,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CUX1,cut like homeobox 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,YWHAZ,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,TCF4,transcription factor 4,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CTNND2,catenin delta 2,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,KIRREL3,kirre like nephrin family adhesion molecule 3,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,DOCK8,dedicator of cytokinesis 8,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,MBD5,methyl-CpG binding domain protein 5,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CDH15,cadherin 15,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,GRIN1,glutamate ionotropic receptor NMDA type subunit 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,DYNC1H1,dynein cytoplasmic 1 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CACNG2,calcium voltage-gated channel auxiliary subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,EPB41L1,erythrocyte membrane protein band 4.1 like 1,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,EEF1A2,eukaryotic translation elongation factor 1 alpha 2,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CAMK2A,calcium/calmodulin dependent protein kinase II alpha,Disease-causing germline mutation(s) in,Assessed
178469,Autosomal dominant non-syndromic intellectual disability,CAMK2B,calcium/calmodulin dependent protein kinase II beta,Disease-causing germline mutation(s) in,Assessed
178461,X-linked myopathy with postural muscle atrophy,FHL1,four and a half LIM domains 1,Disease-causing germline mutation(s) in,Assessed
178464,Hereditary myopathy with early respiratory failure,TTN,titin,Disease-causing germline mutation(s) in,Assessed
178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,SERPINA1,serpin family A member 1,Disease-causing germline mutation(s) in,Assessed
178400,Distal myopathy with anterior tibial onset,DYSF,dysferlin,Disease-causing germline mutation(s) in,Assessed
178389,Osteopetrosis-hypogammaglobulinemia syndrome,TNFRSF11A,TNF receptor superfamily member 11a,Disease-causing germline mutation(s) in,Assessed
62,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,SGCA,sarcoglycan alpha,Disease-causing germline mutation(s) in,Assessed
178364,Syndromic microphthalmia type 5,OTX2,orthodenticle homeobox 2,Disease-causing germline mutation(s) in,Assessed
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,PHKA1,phosphorylase kinase regulatory subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,PHKG1,phosphorylase kinase catalytic subunit gamma 1,Candidate gene tested in,Not yet assessed
178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
348,"Fructose-1,6-bisphosphatase deficiency",FBP1,fructose-bisphosphatase 1,Disease-causing germline mutation(s) in,Assessed
178345,Aromatase excess syndrome,CYP19A1,cytochrome P450 family 19 subfamily A member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
178355,Smith-McCort dysplasia,DYM,dymeclin,Disease-causing germline mutation(s) (loss of function) in,Assessed
178355,Smith-McCort dysplasia,RAB33B,"RAB33B, member RAS oncogene family",Disease-causing germline mutation(s) in,Assessed
178338,UV-sensitive syndrome,ERCC6,"ERCC excision repair 6, chromatin remodeling factor",Disease-causing germline mutation(s) in,Assessed
178338,UV-sensitive syndrome,ERCC8,"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",Disease-causing germline mutation(s) in,Assessed
178338,UV-sensitive syndrome,UVSSA,UV stimulated scaffold protein A,Disease-causing germline mutation(s) in,Assessed
178342,Inflammatory myofibroblastic tumor,TPM3,tropomyosin 3,Part of a fusion gene in,Assessed
178342,Inflammatory myofibroblastic tumor,ALK,ALK receptor tyrosine kinase,Part of a fusion gene in,Assessed
178342,Inflammatory myofibroblastic tumor,RANBP2,RAN binding protein 2,Part of a fusion gene in,Assessed
178342,Inflammatory myofibroblastic tumor,CLTC,clathrin heavy chain,Part of a fusion gene in,Assessed
178342,Inflammatory myofibroblastic tumor,CARS1,cysteinyl-tRNA synthetase 1,Part of a fusion gene in,Assessed
178342,Inflammatory myofibroblastic tumor,TPM4,tropomyosin 4,Part of a fusion gene in,Assessed
117,Behçet disease,IL10,interleukin 10,Major susceptibility factor in,Assessed
117,Behçet disease,HLA-B,"major histocompatibility complex, class I, B",Major susceptibility factor in,Assessed
117,Behçet disease,FAS,Fas cell surface death receptor,Major susceptibility factor in,Assessed
117,Behçet disease,UBAC2,UBA domain containing 2,Major susceptibility factor in,Assessed
117,Behçet disease,IL23R,interleukin 23 receptor,Major susceptibility factor in,Assessed
117,Behçet disease,MEFV,"MEFV innate immunity regulator, pyrin",Major susceptibility factor in,Assessed
117,Behçet disease,STAT4,signal transducer and activator of transcription 4,Major susceptibility factor in,Assessed
117,Behçet disease,C4A,complement C4A (Chido/Rodgers blood group),Major susceptibility factor in,Assessed
117,Behçet disease,IL12A,interleukin 12A,Major susceptibility factor in,Assessed
117,Behçet disease,TLR4,toll like receptor 4,Major susceptibility factor in,Assessed
117,Behçet disease,CCR1,C-C motif chemokine receptor 1,Major susceptibility factor in,Assessed
117,Behçet disease,KLRC4,killer cell lectin like receptor C4,Major susceptibility factor in,Assessed
117,Behçet disease,IL12A-AS1,IL12A antisense RNA 1,Major susceptibility factor in,Assessed
117,Behçet disease,ERAP1,endoplasmic reticulum aminopeptidase 1,Major susceptibility factor in,Assessed
117,Behçet disease,IFNGR1,interferon gamma receptor 1,Major susceptibility factor in,Assessed
178509,Perry syndrome,DCTN1,dynactin subunit 1,Disease-causing germline mutation(s) in,Assessed
178506,Interstitial lung disease-brain calcification syndrome,FARSB,phenylalanyl-tRNA synthetase subunit beta,Disease-causing germline mutation(s) in,Assessed
178506,Interstitial lung disease-brain calcification syndrome,FARSA,phenylalanyl-tRNA synthetase subunit alpha,Disease-causing germline mutation(s) in,Assessed
177926,Bleeding disorder in hemophilia A carriers,F8,coagulation factor VIII,Disease-causing germline mutation(s) in,Assessed
177929,Bleeding disorder in hemophilia B carriers,F9,coagulation factor IX,Disease-causing germline mutation(s) in,Assessed
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,SNORD115@,"small nucleolar RNA, C/D box 115 cluster",Role in the phenotype of,Assessed
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,SNRPN,small nuclear ribonucleoprotein polypeptide N,Role in the phenotype of,Assessed
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,MAGEL2,MAGE family member L2,Role in the phenotype of,Assessed
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,NDN,"necdin, MAGE family member",Role in the phenotype of,Assessed
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,OCA2,OCA2 melanosomal transmembrane protein,Role in the phenotype of,Assessed
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,SNORD116@,"small nucleolar RNA, C/D box 116 cluster",Role in the phenotype of,Assessed
423,Malignant hyperthermia of anesthesia,CACNA1S,calcium voltage-gated channel subunit alpha1 S,Major susceptibility factor in,Assessed
423,Malignant hyperthermia of anesthesia,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,SNORD115@,"small nucleolar RNA, C/D box 115 cluster",Role in the phenotype of,Assessed
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,SNRPN,small nuclear ribonucleoprotein polypeptide N,Role in the phenotype of,Assessed
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,MAGEL2,MAGE family member L2,Role in the phenotype of,Assessed
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,NDN,"necdin, MAGE family member",Role in the phenotype of,Assessed
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,OCA2,OCA2 melanosomal transmembrane protein,Role in the phenotype of,Assessed
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,SNORD116@,"small nucleolar RNA, C/D box 116 cluster",Role in the phenotype of,Assessed
177907,Prader-Willi syndrome due to translocation,SNRPN,small nuclear ribonucleoprotein polypeptide N,Role in the phenotype of,Assessed
177910,Prader-Willi syndrome due to imprinting mutation,SNORD115@,"small nucleolar RNA, C/D box 115 cluster",Role in the phenotype of,Assessed
177910,Prader-Willi syndrome due to imprinting mutation,SNRPN,small nuclear ribonucleoprotein polypeptide N,Role in the phenotype of,Assessed
177910,Prader-Willi syndrome due to imprinting mutation,MAGEL2,MAGE family member L2,Role in the phenotype of,Assessed
177910,Prader-Willi syndrome due to imprinting mutation,NDN,"necdin, MAGE family member",Role in the phenotype of,Assessed
177910,Prader-Willi syndrome due to imprinting mutation,SNORD116@,"small nucleolar RNA, C/D box 116 cluster",Role in the phenotype of,Assessed
388,Hirschsprung disease,ATP7A,ATPase copper transporting alpha,Disease-causing germline mutation(s) in,Assessed
388,Hirschsprung disease,ABCD1,ATP binding cassette subfamily D member 1,Disease-causing germline mutation(s) in,Assessed
388,Hirschsprung disease,ERBB2,erb-b2 receptor tyrosine kinase 2,Disease-causing germline mutation(s) in,Assessed
388,Hirschsprung disease,ERBB3,erb-b2 receptor tyrosine kinase 3,Disease-causing germline mutation(s) in,Assessed
388,Hirschsprung disease,SMO,"smoothened, frizzled class receptor",Disease-causing germline mutation(s) in,Assessed
388,Hirschsprung disease,RET,ret proto-oncogene,Disease-causing germline mutation(s) in,Assessed
388,Hirschsprung disease,ECE1,endothelin converting enzyme 1,Major susceptibility factor in,Assessed
388,Hirschsprung disease,EDN3,endothelin 3,Major susceptibility factor in,Assessed
388,Hirschsprung disease,EDNRB,endothelin receptor type B,Major susceptibility factor in,Assessed
388,Hirschsprung disease,GDNF,glial cell derived neurotrophic factor,Major susceptibility factor in,Assessed
388,Hirschsprung disease,NRTN,neurturin,Major susceptibility factor in,Assessed
388,Hirschsprung disease,SEMA3C,semaphorin 3C,Major susceptibility factor in,Assessed
388,Hirschsprung disease,SEMA3D,semaphorin 3D,Major susceptibility factor in,Assessed
388,Hirschsprung disease,SREBF1,sterol regulatory element binding transcription factor 1,Disease-causing germline mutation(s) in,Assessed
178333,Åland Islands eye disease,CACNA1F,calcium voltage-gated channel subunit alpha1 F,Disease-causing germline mutation(s) in,Assessed
760,Purine nucleoside phosphorylase deficiency,PNP,purine nucleoside phosphorylase,Disease-causing germline mutation(s) (loss of function) in,Assessed
270,Oculopharyngeal muscular dystrophy,PABPN1,poly(A) binding protein nuclear 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,NME5,NME/NM23 family member 5,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAH1,dynein axonemal heavy chain 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,TTC12,tetratricopeptide repeat domain 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,NEK10,NIMA related kinase 10,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAAF6,PIH1 domain containing 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,CFAP221,cilia and flagella associated protein 221,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,SPEF2,sperm flagellar 2,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAJB13,DnaJ heat shock protein family (Hsp40) member B13,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,ODAD4,outer dynein arm docking complex subunit 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,MCIDAS,multiciliate differentiation and DNA synthesis associated cell cycle protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,GAS2L2,growth arrest specific 2 like 2,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,OFD1,OFD1 centriole and centriolar satellite protein,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAH11,dynein axonemal heavy chain 11,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAH5,dynein axonemal heavy chain 5,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAI1,dynein axonemal intermediate chain 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,NME8,NME/NM23 family member 8,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAI2,dynein axonemal intermediate chain 2,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAAF2,dynein axonemal assembly factor 2,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,RSPH9,radial spoke head component 9,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,RSPH4A,radial spoke head component 4A,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAAF1,dynein axonemal assembly factor 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,CCDC39,coiled-coil domain 39 molecular ruler complex subunit,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,CCDC40,coiled-coil domain 40 molecular ruler complex subunit,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAL1,dynein axonemal light chain 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAAF3,dynein axonemal assembly factor 3,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAAF19,dynein axonemal assembly factor 19,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAAF5,dynein axonemal assembly factor 5,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,HYDIN,HYDIN axonemal central pair apparatus protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,DNAAF11,dynein axonemal assembly factor 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,ODAD1,outer dynein arm docking complex subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,DRC1,dynein regulatory complex subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,ODAD2,outer dynein arm docking complex subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,DNAAF4,dynein axonemal assembly factor 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,RSPH1,radial spoke head component 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,ZMYND10,zinc finger MYND-type containing 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,CFAP298,cilia and flagella associated protein 298,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DRC2,dynein regulatory complex subunit 2,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,SPAG1,sperm associated antigen 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,CCNO,cyclin O,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,ODAD3,outer dynein arm docking complex subunit 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,RSPH3,radial spoke head 3,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DRC4,dynein regulatory complex subunit 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,RPGR,retinitis pigmentosa GTPase regulator,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,CFAP74,cilia and flagella associated protein 74,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DNAH7,dynein axonemal heavy chain 7,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,BRWD1,bromodomain and WD repeat domain containing 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,DAW1,dynein assembly factor with WD repeats 1,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,CLXN,calaxin,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,STK36,serine/threonine kinase 36,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,FOXJ1,forkhead box J1,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,DNAH9,dynein axonemal heavy chain 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
244,Primary ciliary dyskinesia,LRRC56,leucine rich repeat containing 56,Disease-causing germline mutation(s) in,Assessed
244,Primary ciliary dyskinesia,CFAP300,cilia and flagella associated protein 300,Disease-causing germline mutation(s) (loss of function) in,Assessed
178307,Reticulate acropigmentation of Kitamura,ADAM10,ADAM metallopeptidase domain 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
805,Tuberous sclerosis complex,IFNG,interferon gamma,Modifying germline mutation in,Assessed
805,Tuberous sclerosis complex,TSC1,TSC complex subunit 1,Disease-causing germline mutation(s) in,Assessed
805,Tuberous sclerosis complex,TSC2,TSC complex subunit 2,Disease-causing germline mutation(s) in,Assessed
178145,Moderate multiminicore disease with hand involvement,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,SCAPER,S-phase cyclin A associated protein in the ER,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IFT88,intraflagellar transport 88,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,REEP6,receptor accessory protein 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,ARHGEF18,Rho/Rac guanine nucleotide exchange factor 18,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,BBS1,Bardet-Biedl syndrome 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,KIAA1549,KIAA1549,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,TMEM216,transmembrane protein 216,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,IFT43,intraflagellar transport 43,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,AHI1,Abelson helper integration site 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,AGBL5,AGBL carboxypeptidase 5,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CC2D2A,coiled-coil and C2 domain containing 2A,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,ABCA4,ATP binding cassette subfamily A member 4,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRCD,photoreceptor disc component,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRPF3,pre-mRNA processing factor 3,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRPF31,pre-mRNA processing factor 31,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRPF8,pre-mRNA processing factor 8,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RDH12,retinol dehydrogenase 12,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RGR,retinal G protein coupled receptor,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RHO,rhodopsin,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RLBP1,retinaldehyde binding protein 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,ROM1,retinal outer segment membrane protein 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RP1,RP1 axonemal microtubule associated,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RP2,RP2 activator of ARL3 GTPase,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RP9,RP9 pre-mRNA splicing factor,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RPE65,retinoid isomerohydrolase RPE65,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RPGR,retinitis pigmentosa GTPase regulator,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,SAG,S-antigen visual arrestin,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,BBS2,Bardet-Biedl syndrome 2,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CA4,carbonic anhydrase 4,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CERKL,CERK like autophagy regulator,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,TTC8,tetratricopeptide repeat domain 8,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,TULP1,TUB like protein 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,USH2A,usherin,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CLRN1,clarin 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CNGA1,cyclic nucleotide gated channel subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CRB1,crumbs cell polarity complex component 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CRX,cone-rod homeobox,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,ARL6,ARF like GTPase 6,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,FSCN2,"fascin actin-bundling protein 2, retinal",Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,HGSNAT,heparan-alpha-glucosaminide N-acetyltransferase,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IMPDH1,inosine monophosphate dehydrogenase 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,MERTK,"MER proto-oncogene, tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,NR2E3,nuclear receptor subfamily 2 group E member 3,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,NRL,neural retina leucine zipper,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,OFD1,OFD1 centriole and centriolar satellite protein,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PDE6A,phosphodiesterase 6A,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PDE6B,phosphodiesterase 6B,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,SEMA4A,semaphorin 4A,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CNGB1,cyclic nucleotide gated channel subunit beta 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,TOPORS,"TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase",Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PROM1,prominin 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,LRAT,lecithin retinol acyltransferase,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,EYS,EGF-like photoreceptor maintenance factor,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IDH3B,isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,SPATA7,spermatogenesis associated 7,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,GUCA1B,guanylate cyclase activator 1B,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,KLHL7,kelch like family member 7,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,SNRNP200,small nuclear ribonucleoprotein U5 subunit 200,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PCARE,photoreceptor cilium actin regulator,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PDE6G,phosphodiesterase 6G,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IMPG2,interphotoreceptor matrix proteoglycan 2,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,FAM161A,FAM161 centrosomal protein A,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,ZNF513,zinc finger protein 513,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CDHR1,cadherin related family member 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,DHDDS,dehydrodolichyl diphosphate synthase subunit,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRPF6,pre-mRNA processing factor 6,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,MAK,male germ cell associated kinase,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,RBP3,retinol binding protein 3,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,CFAP418,cilia and flagella associated protein 418,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IFT140,intraflagellar transport 140,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,ZNF408,zinc finger protein 408,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,ARL2BP,ARF like GTPase 2 binding protein,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,NEK2,NIMA related kinase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,IFT172,intraflagellar transport 172,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,TUB,TUB bipartite transcription factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,KIZ,kizuna centrosomal protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,SLC7A14,solute carrier family 7 member 14,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,PRPF4,pre-mRNA splicing tri-snRNP complex factor PRPF4,Disease-causing germline mutation(s) (loss of function) in,Assessed
791,Retinitis pigmentosa,RP1L1,RP1 like 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,AHR,aryl hydrocarbon receptor,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,COQ8B,coenzyme Q8B,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IMPG1,interphotoreceptor matrix proteoglycan 1,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,IDH3A,isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha,Candidate gene tested in,Not yet assessed
791,Retinitis pigmentosa,DHX38,DEAH-box helicase 38,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,ARL3,ARF like GTPase 3,Disease-causing germline mutation(s) in,Assessed
791,Retinitis pigmentosa,POMGNT1,"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",Disease-causing germline mutation(s) in,Assessed
2131,Alternating hemiplegia of childhood,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Candidate gene tested in,Not yet assessed
2131,Alternating hemiplegia of childhood,ATP1A2,ATPase Na+/K+ transporting subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
2131,Alternating hemiplegia of childhood,ATP1A3,ATPase Na+/K+ transporting subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
2131,Alternating hemiplegia of childhood,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) in,Assessed
2131,Alternating hemiplegia of childhood,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) in,Assessed
2131,Alternating hemiplegia of childhood,MT-TL2,mitochondrially encoded tRNA-Leu (CUN) 2,Disease-causing germline mutation(s) in,Assessed
2131,Alternating hemiplegia of childhood,SLC1A3,solute carrier family 1 member 3,Candidate gene tested in,Not yet assessed
2131,Alternating hemiplegia of childhood,RHOBTB2,Rho related BTB domain containing 2,Disease-causing germline mutation(s) in,Assessed
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,PGK1,phosphoglycerate kinase 1,Disease-causing germline mutation(s) in,Assessed
57,Glycogen storage disease due to aldolase A deficiency,ALDOA,"aldolase, fructose-bisphosphate A",Disease-causing germline mutation(s) in,Assessed
2334,Autosomal dominant keratitis,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
46,Adenylosuccinate lyase deficiency,ADSL,adenylosuccinate lyase,Disease-causing germline mutation(s) in,Assessed
3166,Sialuria,GNE,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,Disease-causing germline mutation(s) in,Assessed
2882,Sitosterolemia,ABCG5,ATP binding cassette subfamily G member 5,Disease-causing germline mutation(s) in,Assessed
2882,Sitosterolemia,ABCG8,ATP binding cassette subfamily G member 8,Disease-causing germline mutation(s) in,Assessed
900,Granulomatosis with polyangiitis,HLA-DPA1,"major histocompatibility complex, class II, DP alpha 1",Major susceptibility factor in,Assessed
900,Granulomatosis with polyangiitis,HLA-DPB1,"major histocompatibility complex, class II, DP beta 1",Major susceptibility factor in,Assessed
900,Granulomatosis with polyangiitis,CTLA4,cytotoxic T-lymphocyte associated protein 4,Major susceptibility factor in,Assessed
900,Granulomatosis with polyangiitis,PTPN22,protein tyrosine phosphatase non-receptor type 22,Major susceptibility factor in,Assessed
900,Granulomatosis with polyangiitis,PRTN3,proteinase 3,Major susceptibility factor in,Assessed
171695,Parkinsonian-pyramidal syndrome,SNCA,synuclein alpha,Disease-causing germline mutation(s) in,Assessed
171695,Parkinsonian-pyramidal syndrome,FBXO7,F-box protein 7,Disease-causing germline mutation(s) in,Assessed
134,Beta-ketothiolase deficiency,ACAT1,acetyl-CoA acetyltransferase 1,Disease-causing germline mutation(s) in,Assessed
171700,Diffuse panbronchiolitis,MUCL3,mucin like 3,Major susceptibility factor in,Not yet assessed
171700,Diffuse panbronchiolitis,MUC5B,"mucin 5B, oligomeric mucus/gel-forming",Major susceptibility factor in,Not yet assessed
171703,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,EOMES,eomesodermin,Disease-causing germline mutation(s) in,Assessed
171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,SECISBP2,SECIS binding protein 2,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,CATSPERT,catsper channel auxiliary subunit tau,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,GGN,gametogenetin,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,PPP2R3C,protein phosphatase 2 regulatory subunit B''gamma,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,SEPTIN4,septin 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
171709,Male infertility due to globozoospermia,GOPC,golgi associated PDZ and coiled-coil motif containing,Candidate gene tested in,Not yet assessed
171709,Male infertility due to globozoospermia,ZPBP,zona pellucida binding protein,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,SPATA16,spermatogenesis associated 16,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,DPY19L2,dpy-19 like 2,Disease-causing germline mutation(s) in,Assessed
171709,Male infertility due to globozoospermia,PICK1,protein interacting with PRKCA 1,Disease-causing germline mutation(s) in,Assessed
171723,White sponge nevus,KRT4,keratin 4,Disease-causing germline mutation(s) in,Assessed
171723,White sponge nevus,KRT13,keratin 13,Disease-causing germline mutation(s) in,Assessed
171680,Lissencephaly due to TUBA1A mutation,TUBA1A,tubulin alpha 1a,Disease-causing germline mutation(s) in,Assessed
171690,Metabolic myopathy due to lactate transporter defect,SLC16A1,solute carrier family 16 member 1,Disease-causing germline mutation(s) in,Assessed
171863,Autosomal dominant spastic paraplegia type 42,SLC33A1,solute carrier family 33 member 1,Disease-causing germline mutation(s) in,Assessed
171871,Renal pseudohypoaldosteronism type 1,NR3C2,nuclear receptor subfamily 3 group C member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",ACAN,aggrecan,Disease-causing germline mutation(s) in,Assessed
171881,Cap myopathy,MYPN,myopalladin,Disease-causing germline mutation(s) in,Assessed
171881,Cap myopathy,TPM2,tropomyosin 2,Disease-causing germline mutation(s) in,Assessed
171881,Cap myopathy,TPM3,tropomyosin 3,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,WARS1,tryptophanyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,SARS1,seryl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CIT,citron rho-interacting serine/threonine kinase,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,NUP37,nucleoporin 37,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,NCAPD3,non-SMC condensin II complex subunit D3,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CENPE,centromere protein E,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,COPB2,coat protein complex I subunit beta 2,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,PDCD6IP,programmed cell death 6 interacting protein,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,TRAPPC10,trafficking protein particle complex subunit 10,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,MCM7,minichromosome maintenance complex component 7,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,METTL5,"methyltransferase 5, N6-adenosine",Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,TRAPPC14,trafficking protein particle complex subunit 14,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,KIF14,kinesin family member 14,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,TAF13,TATA-box binding protein associated factor 13,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,PYCR2,pyrroline-5-carboxylate reductase 2,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CDK5RAP2,CDK5 regulatory subunit associated protein 2,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CPAP,centrosome assembly and centriole elongation protein,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,ASPM,assembly factor for spindle microtubules,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,MCPH1,microcephalin 1,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,STIL,STIL centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,WDR62,WD repeat domain 62,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CEP152,centrosomal protein 152,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CEP135,centrosomal protein 135,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,KNL1,kinetochore scaffold 1,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,PHC1,polyhomeotic homolog 1,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,CDK6,cyclin dependent kinase 6,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,SASS6,SAS-6 centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
2512,Autosomal recessive primary microcephaly,MFSD2A,"MFSD2 lysolipid transporter A, lysophospholipid",Disease-causing germline mutation(s) (loss of function) in,Assessed
2512,Autosomal recessive primary microcephaly,ANKLE2,ankyrin repeat and LEM domain containing 2,Disease-causing germline mutation(s) in,Assessed
171876,Generalized pseudohypoaldosteronism type 1,SCNN1A,sodium channel epithelial 1 subunit alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
171876,Generalized pseudohypoaldosteronism type 1,SCNN1B,sodium channel epithelial 1 subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
171876,Generalized pseudohypoaldosteronism type 1,SCNN1G,sodium channel epithelial 1 subunit gamma,Disease-causing germline mutation(s) (loss of function) in,Assessed
797,Sarcoidosis,BTNL2,butyrophilin like 2,Major susceptibility factor in,Assessed
797,Sarcoidosis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
171829,6q16 microdeletion syndrome,SIM1,SIM bHLH transcription factor 1,Role in the phenotype of,Assessed
171851,MEDNIK syndrome,AP1B1,adaptor related protein complex 1 subunit beta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
171851,MEDNIK syndrome,AP1S1,adaptor related protein complex 1 subunit sigma 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,ABHD12,"abhydrolase domain containing 12, lysophospholipase",Disease-causing germline mutation(s) in,Assessed
3303,Tetralogy of Fallot,KDR,kinase insert domain receptor,Major susceptibility factor in,Assessed
3303,Tetralogy of Fallot,ZFPM2,"zinc finger protein, FOG family member 2",Major susceptibility factor in,Assessed
3303,Tetralogy of Fallot,GATA4,GATA binding protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
3303,Tetralogy of Fallot,JAG1,jagged canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
3303,Tetralogy of Fallot,NKX2-5,NK2 homeobox 5,Candidate gene tested in,Assessed
3303,Tetralogy of Fallot,GATA5,GATA binding protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
3303,Tetralogy of Fallot,GJA5,gap junction protein alpha 5,Major susceptibility factor in,Assessed
3303,Tetralogy of Fallot,NKX2-6,NK2 homeobox 6,Major susceptibility factor in,Assessed
3303,Tetralogy of Fallot,GDF1,growth differentiation factor 1,Major susceptibility factor in,Not yet assessed
3303,Tetralogy of Fallot,CITED2,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,Major susceptibility factor in,Not yet assessed
3303,Tetralogy of Fallot,GATA6,GATA binding protein 6,Major susceptibility factor in,Not yet assessed
3303,Tetralogy of Fallot,FLT4,fms related receptor tyrosine kinase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
3303,Tetralogy of Fallot,TBX1,T-box transcription factor 1,Candidate gene tested in,Not yet assessed
200418,Immunodeficiency with factor I anomaly,CFI,complement factor I,Disease-causing germline mutation(s) in,Assessed
730,Autosomal dominant polycystic kidney disease,GANAB,glucosidase II alpha subunit,Disease-causing germline mutation(s) in,Assessed
730,Autosomal dominant polycystic kidney disease,NEK8,NIMA related kinase 8,Disease-causing germline mutation(s) in,Assessed
730,Autosomal dominant polycystic kidney disease,ALG9,"ALG9 alpha-1,2-mannosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
730,Autosomal dominant polycystic kidney disease,DNAJB11,DnaJ heat shock protein family (Hsp40) member B11,Disease-causing germline mutation(s) (loss of function) in,Assessed
730,Autosomal dominant polycystic kidney disease,ALG5,ALG5 dolichyl-phosphate beta-glucosyltransferase,Disease-causing germline mutation(s) in,Assessed
730,Autosomal dominant polycystic kidney disease,PKD1,"polycystin 1, transient receptor potential channel interacting",Disease-causing germline mutation(s) in,Assessed
730,Autosomal dominant polycystic kidney disease,PKD2,"polycystin 2, transient receptor potential cation channel",Disease-causing germline mutation(s) in,Assessed
730,Autosomal dominant polycystic kidney disease,BICC1,BicC family RNA binding protein 1,Candidate gene tested in,Not yet assessed
730,Autosomal dominant polycystic kidney disease,IFT140,intraflagellar transport 140,Disease-causing germline mutation(s) (loss of function) in,Assessed
200421,Immunodeficiency with factor H anomaly,CFH,complement factor H,Disease-causing germline mutation(s) in,Assessed
486,Autosomal dominant severe congenital neutropenia,TCIRG1,"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",Disease-causing germline mutation(s) in,Assessed
486,Autosomal dominant severe congenital neutropenia,ELANE,"elastase, neutrophil expressed",Disease-causing germline mutation(s) in,Assessed
486,Autosomal dominant severe congenital neutropenia,GFI1,growth factor independent 1 transcriptional repressor,Disease-causing germline mutation(s) in,Assessed
486,Autosomal dominant severe congenital neutropenia,CLPB,ClpB family mitochondrial disaggregase,Disease-causing germline mutation(s) (loss of function) in,Assessed
486,Autosomal dominant severe congenital neutropenia,SRP19,signal recognition particle 19,Disease-causing germline mutation(s) in,Assessed
98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,SACS,sacsin molecular chaperone,Disease-causing germline mutation(s) in,Assessed
330,Congenital factor XII deficiency,F12,coagulation factor XII,Disease-causing germline mutation(s) in,Assessed
828,Stickler syndrome,BMP4,bone morphogenetic protein 4,Disease-causing germline mutation(s) in,Assessed
199340,BAG3-related myofibrillar myopathy,BAG3,BAG cochaperone 3,Disease-causing germline mutation(s) in,Assessed
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,COX4I2,cytochrome c oxidase subunit 4I2,Disease-causing germline mutation(s) in,Assessed
234,Dubin-Johnson syndrome,ABCC2,ATP binding cassette subfamily C member 2,Disease-causing germline mutation(s) in,Assessed
199348,Thiamine-responsive encephalopathy,SLC19A3,solute carrier family 19 member 3,Disease-causing germline mutation(s) in,Assessed
3287,Takayasu arteritis,HLA-B,"major histocompatibility complex, class I, B",Major susceptibility factor in,Assessed
3287,Takayasu arteritis,IL12B,interleukin 12B,Major susceptibility factor in,Assessed
3287,Takayasu arteritis,MLX,MAX dimerization protein MLX,Major susceptibility factor in,Assessed
199343,EAST syndrome,KCNJ10,potassium inwardly rectifying channel subfamily J member 10,Disease-causing germline mutation(s) in,Assessed
2800,Extramammary Paget disease,ERBB2,erb-b2 receptor tyrosine kinase 2,Disease-causing somatic mutation(s) in,Assessed
199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",KCNA1,potassium voltage-gated channel subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
199332,Endocrine-cerebro-osteodysplasia syndrome,CILK1,ciliogenesis associated kinase 1,Disease-causing germline mutation(s) in,Assessed
199329,"Congenital myopathy, Paradas type",DYSF,dysferlin,Disease-causing germline mutation(s) in,Assessed
2665,Congenital mesoblastic nephroma,ETV6,ETS variant transcription factor 6,Part of a fusion gene in,Assessed
2665,Congenital mesoblastic nephroma,NTRK3,neurotrophic receptor tyrosine kinase 3,Part of a fusion gene in,Assessed
3463,Wolfram syndrome,WFS1,wolframin ER transmembrane glycoprotein,Disease-causing germline mutation(s) (loss of function) in,Assessed
3463,Wolfram syndrome,CISD2,CDGSH iron sulfur domain 2,Disease-causing germline mutation(s) in,Assessed
199354,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,HTRA1,HtrA serine peptidase 1,Disease-causing germline mutation(s) in,Assessed
199351,Adult-onset dystonia-parkinsonism,PLA2G6,phospholipase A2 group VI,Disease-causing germline mutation(s) in,Assessed
356,Gerstmann-Straussler-Scheinker syndrome,PRNP,prion protein (Kanno blood group),Disease-causing germline mutation(s) in,Assessed
466,Fatal familial insomnia,PRNP,prion protein (Kanno blood group),Disease-causing germline mutation(s) in,Assessed
3452,Whipple disease,IRF4,interferon regulatory factor 4,Major susceptibility factor in,Assessed
199285,Hereditary hypercarotenemia and vitamin A deficiency,BCO1,beta-carotene oxygenase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2102,GTP cyclohydrolase I deficiency,GCH1,GTP cyclohydrolase 1,Disease-causing germline mutation(s) in,Assessed
3002,Immune thrombocytopenia,FCGR2C,Fc gamma receptor IIc (gene/pseudogene),Candidate gene tested in,Not yet assessed
199318,15q13.3 microdeletion syndrome,CHRNA7,cholinergic receptor nicotinic alpha 7 subunit,Role in the phenotype of,Assessed
274,Bernard-Soulier syndrome,GP1BA,glycoprotein Ib platelet subunit alpha,Disease-causing germline mutation(s) in,Assessed
274,Bernard-Soulier syndrome,GP1BB,glycoprotein Ib platelet subunit beta,Disease-causing germline mutation(s) in,Assessed
274,Bernard-Soulier syndrome,GP9,glycoprotein IX platelet,Disease-causing germline mutation(s) in,Assessed
1195,Congenital atransferrinemia,TF,transferrin,Disease-causing germline mutation(s) in,Assessed
199302,Isolated cleft lip,TP63,tumor protein p63,Major susceptibility factor in,Assessed
199302,Isolated cleft lip,IRF6,interferon regulatory factor 6,Major susceptibility factor in,Assessed
199302,Isolated cleft lip,NECTIN1,nectin cell adhesion molecule 1,Major susceptibility factor in,Assessed
199302,Isolated cleft lip,MSX1,msh homeobox 1,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,ARHGAP29,Rho GTPase activating protein 29,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,TP63,tumor protein p63,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,BMP4,bone morphogenetic protein 4,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,COBLL1,cordon-bleu WH2 repeat protein like 1,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,RIC1,RIC1 partner of RAB6A GEF complex,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,NECTIN1,nectin cell adhesion molecule 1,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,ARHGEF38,Rho guanine nucleotide exchange factor 38,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,CDH1,cadherin 1,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,IRF6,interferon regulatory factor 6,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,PDGFRA,platelet derived growth factor receptor alpha,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,MSX1,msh homeobox 1,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,DLG1,discs large MAGUK scaffold protein 1,Major susceptibility factor in,Assessed
199306,Cleft lip/palate,DLX4,distal-less homeobox 4,Disease-causing germline mutation(s) in,Assessed
926,Acatalasemia,CAT,catalase,Disease-causing germline mutation(s) in,Assessed
199296,Congenital isolated ACTH deficiency,TBX19,T-box transcription factor 19,Disease-causing germline mutation(s) in,Assessed
1675,Dihydropyrimidine dehydrogenase deficiency,DPYD,dihydropyrimidine dehydrogenase,Disease-causing germline mutation(s) in,Assessed
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,KDM1A,lysine demethylase 1A,Modifying germline mutation in,Assessed
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,GNAS,GNAS complex locus,Disease-causing somatic mutation(s) in,Assessed
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,ARMC5,armadillo repeat containing 5,Disease-causing germline mutation(s) in,Assessed
976,Adenine phosphoribosyltransferase deficiency,APRT,adenine phosphoribosyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
3129,Sarcosinemia,SARDH,sarcosine dehydrogenase,Disease-causing germline mutation(s) in,Assessed
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,SLC25A15,solute carrier family 25 member 15,Disease-causing germline mutation(s) (loss of function) in,Assessed
13,6-pyruvoyl-tetrahydropterin synthase deficiency,PTS,6-pyruvoyltetrahydropterin synthase,Disease-causing germline mutation(s) in,Assessed
171,Primary sclerosing cholangitis,SEMA4D,semaphorin 4D,Disease-causing germline mutation(s) in,Assessed
171,Primary sclerosing cholangitis,GPR35,G protein-coupled receptor 35,Major susceptibility factor in,Assessed
171,Primary sclerosing cholangitis,MST1,macrophage stimulating 1,Major susceptibility factor in,Assessed
171,Primary sclerosing cholangitis,TCF4,transcription factor 4,Major susceptibility factor in,Assessed
199247,Corticosteroid-binding globulin deficiency,SERPINA6,serpin family A member 6,Disease-causing germline mutation(s) in,Assessed
199241,Pulmonary capillary hemangiomatosis,EIF2AK4,eukaryotic translation initiation factor 2 alpha kinase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
189466,Familial isolated hypoparathyroidism due to impaired PTH secretion,PTH,parathyroid hormone,Disease-causing germline mutation(s) in,Assessed
189466,Familial isolated hypoparathyroidism due to impaired PTH secretion,AIRE,autoimmune regulator,Disease-causing germline mutation(s) in,Assessed
17,Fatal infantile lactic acidosis with methylmalonic aciduria,SUCLG1,succinate-CoA ligase GDP/ADP-forming subunit alpha,Disease-causing germline mutation(s) in,Assessed
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,ALDH7A1,aldehyde dehydrogenase 7 family member A1,Disease-causing germline mutation(s) in,Assessed
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,PLPBP,pyridoxal phosphate binding protein,Disease-causing germline mutation(s) in,Assessed
3111,Rotor syndrome,SLCO1B1,solute carrier organic anion transporter family member 1B1,Disease-causing germline mutation(s) in,Assessed
3111,Rotor syndrome,SLCO1B3,solute carrier organic anion transporter family member 1B3,Disease-causing germline mutation(s) in,Assessed
2382,Lennox-Gastaut syndrome,CUX2,cut like homeobox 2,Disease-causing germline mutation(s) in,Assessed
2382,Lennox-Gastaut syndrome,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
2382,Lennox-Gastaut syndrome,MAPK10,mitogen-activated protein kinase 10,Candidate gene tested in,Not yet assessed
2382,Lennox-Gastaut syndrome,CHD2,chromodomain helicase DNA binding protein 2,Disease-causing germline mutation(s) in,Assessed
2382,Lennox-Gastaut syndrome,DNM1,dynamin 1,Disease-causing germline mutation(s) in,Assessed
2382,Lennox-Gastaut syndrome,GABRB3,gamma-aminobutyric acid type A receptor subunit beta3,Disease-causing germline mutation(s) in,Assessed
2382,Lennox-Gastaut syndrome,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) (gain of function) in,Assessed
2382,Lennox-Gastaut syndrome,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) (loss of function) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,DMXL2,Dmx like 2,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,GRIN1,glutamate ionotropic receptor NMDA type subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,SLC32A1,solute carrier family 32 member 1,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,RHOBTB2,Rho related BTB domain containing 2,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,CACNA1E,calcium voltage-gated channel subunit alpha1 E,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,NEUROD2,neuronal differentiation 2,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,GRM7,glutamate metabotropic receptor 7,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,CASK,calcium/calmodulin dependent serine protein kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,CDKL5,cyclin dependent kinase like 5,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,ARX,aristaless related homeobox,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,PNKP,polynucleotide kinase 3'-phosphatase,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,GNAO1,G protein subunit alpha o1,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,PIGQ,phosphatidylinositol glycan anchor biosynthesis class Q,Disease-causing germline mutation(s) (loss of function) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,SIK1,salt inducible kinase 1,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,SCN1B,sodium voltage-gated channel beta subunit 1,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,SLC25A22,solute carrier family 25 member 22,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,KCNA1,potassium voltage-gated channel subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,TRIM8,tripartite motif containing 8,Disease-causing germline mutation(s) in,Assessed
1934,Early infantile developmental and epileptic encephalopathy,PIGP,phosphatidylinositol glycan anchor biosynthesis class P,Disease-causing germline mutation(s) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,SYNGAP1,synaptic Ras GTPase activating protein 1,Disease-causing germline mutation(s) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,NEXMIF,neurite extension and migration factor,Disease-causing germline mutation(s) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,CHD2,chromodomain helicase DNA binding protein 2,Disease-causing germline mutation(s) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,SLC6A1,solute carrier family 6 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1942,Epilepsy with myoclonic-atonic seizures,AP2M1,adaptor related protein complex 2 subunit mu 1,Disease-causing germline mutation(s) in,Assessed
267,Calpain-3-related limb-girdle muscular dystrophy R1,CAPN3,calpain 3,Disease-causing germline mutation(s) in,Assessed
186,Primary biliary cholangitis,IL12RB1,interleukin 12 receptor subunit beta 1,Major susceptibility factor in,Not yet assessed
186,Primary biliary cholangitis,SPIB,Spi-B transcription factor,Major susceptibility factor in,Not yet assessed
186,Primary biliary cholangitis,IL12A,interleukin 12A,Major susceptibility factor in,Not yet assessed
186,Primary biliary cholangitis,IRF5,interferon regulatory factor 5,Major susceptibility factor in,Not yet assessed
186,Primary biliary cholangitis,TNPO3,transportin 3,Major susceptibility factor in,Not yet assessed
186,Primary biliary cholangitis,MMEL1,membrane metalloendopeptidase like 1,Major susceptibility factor in,Not yet assessed
186,Primary biliary cholangitis,POU2AF1,POU class 2 homeobox associating factor 1,Major susceptibility factor in,Assessed
186,Primary biliary cholangitis,TNFSF15,TNF superfamily member 15,Major susceptibility factor in,Assessed
397,Giant cell arteritis,PTPN22,protein tyrosine phosphatase non-receptor type 22,Major susceptibility factor in,Assessed
397,Giant cell arteritis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
397,Giant cell arteritis,HLA-B,"major histocompatibility complex, class I, B",Major susceptibility factor in,Assessed
397,Giant cell arteritis,P4HA2,prolyl 4-hydroxylase subunit alpha 2,Major susceptibility factor in,Assessed
2398,Multiple symmetric lipomatosis,MFN2,mitofusin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
131,Budd-Chiari syndrome,F5,coagulation factor V,Candidate gene tested in,Not yet assessed
131,Budd-Chiari syndrome,JAK2,Janus kinase 2,Candidate gene tested in,Not yet assessed
131,Budd-Chiari syndrome,CALR,calreticulin,Candidate gene tested in,Not yet assessed
654,Nephroblastoma,BRCA2,BRCA2 DNA repair associated,Candidate gene tested in,Not yet assessed
654,Nephroblastoma,GPC3,glypican 3,Biomarker tested in,Assessed
654,Nephroblastoma,CTR9,CTR9 component of Paf1/RNA polymerase II complex,Disease-causing germline mutation(s) in,Assessed
654,Nephroblastoma,TRIM28,tripartite motif containing 28,Disease-causing germline mutation(s) in,Assessed
654,Nephroblastoma,TRIM28,tripartite motif containing 28,Disease-causing somatic mutation(s) in,Assessed
654,Nephroblastoma,REST,RE1 silencing transcription factor,Major susceptibility factor in,Assessed
654,Nephroblastoma,TRIP13,thyroid hormone receptor interactor 13,Disease-causing germline mutation(s) (loss of function) in,Assessed
654,Nephroblastoma,POU6F2,POU class 6 homeobox 2,Major susceptibility factor in,Assessed
654,Nephroblastoma,WT1,WT1 transcription factor,Disease-causing somatic mutation(s) in,Assessed
654,Nephroblastoma,WT1,WT1 transcription factor,Major susceptibility factor in,Assessed
654,Nephroblastoma,H19,H19 imprinted maternally expressed transcript,Role in the phenotype of,Assessed
654,Nephroblastoma,DIS3L2,DIS3 like 3'-5' exoribonuclease 2,Major susceptibility factor in,Assessed
2587,Myeloperoxidase deficiency,MPO,myeloperoxidase,Disease-causing germline mutation(s) in,Assessed
3389,Tuberculosis,SLC11A1,solute carrier family 11 member 1,Major susceptibility factor in,Not yet assessed
2897,Pityriasis rubra pilaris,CARD14,caspase recruitment domain family member 14,Disease-causing germline mutation(s) in,Assessed
2312,Transient familial neonatal hyperbilirubinemia,UGT1A1,UDP glucuronosyltransferase family 1 member A1,Candidate gene tested in,Not yet assessed
183707,Infantile LAD-like disease due to RAC2 deficiency,RAC2,Rac family small GTPase 2,Disease-causing germline mutation(s) in,Assessed
2314,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,STAT3,signal transducer and activator of transcription 3,Disease-causing germline mutation(s) in,Assessed
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,IGHG2,immunoglobulin heavy constant gamma 2 (G2m marker),Disease-causing germline mutation(s) in,Assessed
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,IGKC,immunoglobulin kappa constant,Disease-causing germline mutation(s) in,Assessed
2177,Hydranencephaly,NDE1,nudE neurodevelopment protein 1,Disease-causing germline mutation(s) in,Assessed
2380,Legg-Calvé-Perthes disease,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
897,Waardenburg-Shah syndrome,SOX10,SRY-box transcription factor 10,Disease-causing germline mutation(s) in,Assessed
897,Waardenburg-Shah syndrome,EDN3,endothelin 3,Disease-causing germline mutation(s) in,Assessed
897,Waardenburg-Shah syndrome,EDNRB,endothelin receptor type B,Disease-causing germline mutation(s) in,Assessed
897,Waardenburg-Shah syndrome,MITF,melanocyte inducing transcription factor,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,DNA2,DNA replication helicase/nuclease 2,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,NUP85,nucleoporin 85,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,CEP295,centrosomal protein 295,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,ATR,ATR checkpoint kinase,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,CPAP,centrosome assembly and centriole elongation protein,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,PCNT,pericentrin,Candidate gene tested in,Not yet assessed
808,Seckel syndrome,CEP152,centrosomal protein 152,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,RBBP8,"RB binding protein 8, endonuclease",Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,ATRIP,ATR interacting protein,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,TRAIP,TRAF interacting protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
808,Seckel syndrome,CEP63,centrosomal protein 63,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,NIN,ninein,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,NSMCE2,NSE2 SUMO ligase component of SMC5/6 complex,Disease-causing germline mutation(s) in,Assessed
808,Seckel syndrome,PLK4,polo like kinase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
808,Seckel syndrome,CENPE,centromere protein E,Disease-causing germline mutation(s) in,Assessed
3027,Caudal regression syndrome,VANGL1,VANGL planar cell polarity protein 1,Major susceptibility factor in,Assessed
3027,Caudal regression syndrome,FUZ,fuzzy planar cell polarity protein,Disease-causing germline mutation(s) in,Assessed
676,Autosomal dominant hereditary chronic pancreatitis,CASR,calcium sensing receptor,Candidate gene tested in,Not yet assessed
676,Autosomal dominant hereditary chronic pancreatitis,PRSS1,serine protease 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
676,Autosomal dominant hereditary chronic pancreatitis,PRSS2,serine protease 2,Candidate gene tested in,Not yet assessed
676,Autosomal dominant hereditary chronic pancreatitis,CTRC,chymotrypsin C,Candidate gene tested in,Not yet assessed
676,Autosomal dominant hereditary chronic pancreatitis,CPA1,carboxypeptidase A1,Major susceptibility factor in,Assessed
676,Autosomal dominant hereditary chronic pancreatitis,TRPV6,transient receptor potential cation channel subfamily V member 6,Major susceptibility factor in,Assessed
643,Giant axonal neuropathy,GAN,gigaxonin,Disease-causing germline mutation(s) in,Assessed
634,Netherton syndrome,SPINK5,serine peptidase inhibitor Kazal type 5,Disease-causing germline mutation(s) in,Assessed
140,Campomelic dysplasia,SOX9,SRY-box transcription factor 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
2828,Young-onset Parkinson disease,SYNJ1,synaptojanin 1,Disease-causing germline mutation(s) in,Assessed
2828,Young-onset Parkinson disease,SNCA,synuclein alpha,Candidate gene tested in,Not yet assessed
2828,Young-onset Parkinson disease,PINK1,PTEN induced kinase 1,Disease-causing germline mutation(s) in,Assessed
2828,Young-onset Parkinson disease,UCHL1,ubiquitin C-terminal hydrolase L1,Candidate gene tested in,Not yet assessed
2828,Young-onset Parkinson disease,HTRA2,HtrA serine peptidase 2,Candidate gene tested in,Not yet assessed
2828,Young-onset Parkinson disease,PODXL,podocalyxin like,Disease-causing germline mutation(s) (loss of function) in,Assessed
2828,Young-onset Parkinson disease,LRRK2,leucine rich repeat kinase 2,Candidate gene tested in,Not yet assessed
2828,Young-onset Parkinson disease,PRKN,parkin RBR E3 ubiquitin protein ligase,Disease-causing germline mutation(s) in,Assessed
2828,Young-onset Parkinson disease,PARK7,Parkinsonism associated deglycase,Disease-causing germline mutation(s) in,Assessed
2828,Young-onset Parkinson disease,VPS13C,vacuolar protein sorting 13 homolog C,Disease-causing germline mutation(s) (loss of function) in,Assessed
2828,Young-onset Parkinson disease,DNAJC6,DnaJ heat shock protein family (Hsp40) member C6,Disease-causing germline mutation(s) (loss of function) in,Assessed
642,Hereditary sensory and autonomic neuropathy type 4,NTRK1,neurotrophic receptor tyrosine kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
627,Nance-Horan syndrome,NHS,NHS actin remodeling regulator,Disease-causing germline mutation(s) in,Assessed
638,Neurofibromatosis-Noonan syndrome,MAP2K2,mitogen-activated protein kinase kinase 2,Disease-causing germline mutation(s) in,Assessed
638,Neurofibromatosis-Noonan syndrome,NF1,neurofibromin 1,Disease-causing germline mutation(s) in,Assessed
326,Congenital factor V deficiency,F5,coagulation factor V,Disease-causing germline mutation(s) in,Assessed
526,Liddle syndrome,SCNN1B,sodium channel epithelial 1 subunit beta,Disease-causing germline mutation(s) (gain of function) in,Assessed
526,Liddle syndrome,SCNN1G,sodium channel epithelial 1 subunit gamma,Disease-causing germline mutation(s) (gain of function) in,Assessed
526,Liddle syndrome,SCNN1A,sodium channel epithelial 1 subunit alpha,Disease-causing germline mutation(s) (gain of function) in,Assessed
215,Congenital stationary night blindness,RHO,rhodopsin,Disease-causing germline mutation(s) in,Assessed
342,Familial Mediterranean fever,MEFV,"MEFV innate immunity regulator, pyrin",Disease-causing germline mutation(s) in,Assessed
180,Choroideremia,CHM,CHM Rab escort protein,Disease-causing germline mutation(s) in,Assessed
327,Congenital factor VII deficiency,F7,coagulation factor VII,Disease-causing germline mutation(s) in,Assessed
373,Simpson-Golabi-Behmel syndrome,GPC3,glypican 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
373,Simpson-Golabi-Behmel syndrome,GPC4,glypican 4,Candidate gene tested in,Not yet assessed
403,Familial hyperaldosteronism type I,CYP11B1,cytochrome P450 family 11 subfamily B member 1,Part of a fusion gene in,Assessed
403,Familial hyperaldosteronism type I,CYP11B2,cytochrome P450 family 11 subfamily B member 2,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,EIF1AX,eukaryotic translation initiation factor 1A X-linked,Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,PPARG,peroxisome proliferator activated receptor gamma,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,RET,ret proto-oncogene,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,CCDC6,coiled-coil domain containing 6,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,TFG,trafficking from ER to golgi regulator,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,TPR,"translocated promoter region, nuclear basket protein",Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,TRIM24,tripartite motif containing 24,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,TRIM27,tripartite motif containing 27,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,TRIM33,tripartite motif containing 33,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,ERC1,ELKS/RAB6-interacting/CAST family member 1,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,FOXE1,forkhead box E1,Major susceptibility factor in,Assessed
146,Differentiated thyroid carcinoma,GOLGA5,golgin A5,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,HRAS,"HRas proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,NTRK1,neurotrophic receptor tyrosine kinase 1,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,PAX8,paired box 8,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,PCM1,pericentriolar material 1,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,ETV6,ETS variant transcription factor 6,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,NKX2-1,NK2 homeobox 1,Major susceptibility factor in,Assessed
146,Differentiated thyroid carcinoma,ALK,ALK receptor tyrosine kinase,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,NRAS,"NRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,NTRK3,neurotrophic receptor tyrosine kinase 3,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,NCOA4,nuclear receptor coactivator 4,Part of a fusion gene in,Assessed
146,Differentiated thyroid carcinoma,DIRC3,disrupted in renal carcinoma 3,Major susceptibility factor in,Assessed
146,Differentiated thyroid carcinoma,NDUFA13,NADH:ubiquinone oxidoreductase subunit A13,Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,TERT,telomerase reverse transcriptase,Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,GAS8-AS1,GAS8 antisense RNA 1,Disease-causing somatic mutation(s) in,Assessed
146,Differentiated thyroid carcinoma,LPAR4,lysophosphatidic acid receptor 4,Disease-causing somatic mutation(s) in,Assessed
1331,Familial prostate cancer,CDH1,cadherin 1,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,MSMB,microseminoprotein beta,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,RAD51D,RAD51 paralog D,Biomarker tested in,Assessed
1331,Familial prostate cancer,ATM,ATM serine/threonine kinase,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,SRD5A2,steroid 5 alpha-reductase 2,Candidate gene tested in,Not yet assessed
1331,Familial prostate cancer,RNASEL,ribonuclease L,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,BRCA1,BRCA1 DNA repair associated,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,BRCA2,BRCA2 DNA repair associated,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,CHEK2,checkpoint kinase 2,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,ELAC2,elaC ribonuclease Z 2,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,EPHB2,EPH receptor B2,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,NBN,nibrin,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,HNF1B,HNF1 homeobox B,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,HOXB13,homeobox B13,Major susceptibility factor in,Assessed
1331,Familial prostate cancer,MSR1,macrophage scavenger receptor 1,Major susceptibility factor in,Assessed
847,X-linked alpha-thalassemia-intellectual disability syndrome,ATRX,ATRX chromatin remodeler,Disease-causing germline mutation(s) in,Assessed
2268,ICF syndrome,DNMT3B,DNA methyltransferase 3 beta,Disease-causing germline mutation(s) in,Assessed
2268,ICF syndrome,ZBTB24,zinc finger and BTB domain containing 24,Disease-causing germline mutation(s) in,Assessed
2268,ICF syndrome,CDCA7,cell division cycle associated 7,Disease-causing germline mutation(s) in,Assessed
2268,ICF syndrome,HELLS,"helicase, lymphoid specific",Disease-causing germline mutation(s) in,Assessed
2268,ICF syndrome,UHRF1,ubiquitin like with PHD and ring finger domains 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,CEP120,centrosomal protein 120,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,PIBF1,progesterone immunomodulatory binding factor 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,OFD1,OFD1 centriole and centriolar satellite protein,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TCTN3,tectonic family member 3,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,PDE6D,phosphodiesterase 6D,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,KIAA0753,KIAA0753,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,IFT74,intraflagellar transport 74,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,B9D2,B9 domain containing 2,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TCTN2,tectonic family member 2,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,AHI1,Abelson helper integration site 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TMEM67,transmembrane protein 67,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,MKS1,MKS transition zone complex subunit 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,ARL13B,ARF like GTPase 13B,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,INPP5E,inositol polyphosphate-5-phosphatase E,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TCTN1,tectonic family member 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,B9D1,B9 domain containing 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TMEM237,transmembrane protein 237,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,CEP41,centrosomal protein 41,Disease-causing germline mutation(s) (loss of function) in,Assessed
475,Isolated Joubert syndrome,CPLANE1,ciliogenesis and planar polarity effector complex subunit 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,CSPP1,centrosome and spindle pole associated protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
475,Isolated Joubert syndrome,KIAA0586,KIAA0586,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,CEP104,centrosomal protein 104,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,KATNIP,katanin interacting protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
475,Isolated Joubert syndrome,SUFU,SUFU negative regulator of hedgehog signaling,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,ARMC9,armadillo repeat containing 9,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,CBY1,"chibby 1, beta catenin antagonist",Disease-causing germline mutation(s) (loss of function) in,Assessed
475,Isolated Joubert syndrome,HYLS1,HYLS1 centriolar and ciliogenesis associated,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TOGARAM1,TOG array regulator of axonemal microtubules 1,Disease-causing germline mutation(s) in,Assessed
475,Isolated Joubert syndrome,TMEM218,transmembrane protein 218,Disease-causing germline mutation(s) (loss of function) in,Assessed
475,Isolated Joubert syndrome,ARL3,ARF like GTPase 3,Disease-causing germline mutation(s) in,Assessed
392,Holt-Oram syndrome,TBX5,T-box transcription factor 5,Disease-causing germline mutation(s) in,Assessed
86,Familial abdominal aortic aneurysm,COL3A1,collagen type III alpha 1 chain,Major susceptibility factor in,Assessed
243,"46,XX gonadal dysgenesis",NR5A1,nuclear receptor subfamily 5 group A member 1,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",FIGLA,folliculogenesis specific bHLH transcription factor,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",MRPS22,mitochondrial ribosomal protein S22,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",FSHR,follicle stimulating hormone receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
243,"46,XX gonadal dysgenesis",BMP15,bone morphogenetic protein 15,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",PSMC3IP,PSMC3 interacting protein,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",NUP107,nucleoporin 107,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",BNC1,basonuclin zinc finger protein 1,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",ZSWIM7,zinc finger SWIM-type containing 7,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",POLR3H,RNA polymerase III subunit H,Disease-causing germline mutation(s) (loss of function) in,Assessed
243,"46,XX gonadal dysgenesis",MSH4,mutS homolog 4,Disease-causing germline mutation(s) in,Assessed
243,"46,XX gonadal dysgenesis",SPIDR,scaffold protein involved in DNA repair,Disease-causing germline mutation(s) (loss of function) in,Assessed
136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,NOTCH3,notch receptor 3,Disease-causing germline mutation(s) in,Assessed
48,Congenital bilateral absence of vas deferens,ADGRG2,adhesion G protein-coupled receptor G2,Disease-causing germline mutation(s) in,Assessed
48,Congenital bilateral absence of vas deferens,CFTR,CF transmembrane conductance regulator,Disease-causing germline mutation(s) in,Assessed
275,Severe combined immunodeficiency due to DCLRE1C deficiency,DCLRE1C,DNA cross-link repair 1C,Disease-causing germline mutation(s) in,Assessed
184,Cherubism,SH3BP2,SH3 domain binding protein 2,Disease-causing germline mutation(s) in,Assessed
71,Chylomicron retention disease,SAR1B,secretion associated Ras related GTPase 1B,Disease-causing germline mutation(s) in,Assessed
1949,Self-limited neonatal epilepsy,KCNQ2,potassium voltage-gated channel subfamily Q member 2,Disease-causing germline mutation(s) in,Assessed
1949,Self-limited neonatal epilepsy,KCNQ3,potassium voltage-gated channel subfamily Q member 3,Disease-causing germline mutation(s) in,Assessed
189,Hidrotic ectodermal dysplasia,GJB6,gap junction protein beta 6,Disease-causing germline mutation(s) in,Assessed
1473,Uveal coloboma-cleft lip and palate-intellectual disability,YAP1,Yes1 associated transcriptional regulator,Disease-causing germline mutation(s) (loss of function) in,Assessed
1344,Isolated atrial standstill,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) in,Assessed
1344,Isolated atrial standstill,NPPA,natriuretic peptide A,Disease-causing germline mutation(s) in,Assessed
182050,MYH9-related syndromic thrombocytopenia,MYH9,myosin heavy chain 9,Disease-causing germline mutation(s) in,Assessed
3103,Roberts syndrome,ESCO2,establishment of sister chromatid cohesion N-acetyltransferase 2,Disease-causing germline mutation(s) in,Assessed
181428,Familial Hyperalphalipoproteinemia,CETP,cholesteryl ester transfer protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
181428,Familial Hyperalphalipoproteinemia,APOC3,apolipoprotein C3,Disease-causing germline mutation(s) (loss of function) in,Assessed
181428,Familial Hyperalphalipoproteinemia,SCARB1,scavenger receptor class B member 1,Disease-causing germline mutation(s) in,Assessed
709,Peters plus syndrome,B3GLCT,beta 3-glucosyltransferase,Disease-causing germline mutation(s) in,Assessed
776,Lujan-Fryns syndrome,MED12,mediator complex subunit 12,Disease-causing germline mutation(s) in,Assessed
776,Lujan-Fryns syndrome,ZDHHC9,zDHHC palmitoyltransferase 9,Disease-causing germline mutation(s) in,Assessed
776,Lujan-Fryns syndrome,UPF3B,UPF3B regulator of nonsense mediated mRNA decay,Disease-causing germline mutation(s) in,Assessed
902,Werner syndrome,WRN,WRN RecQ like helicase,Disease-causing germline mutation(s) in,Assessed
888,Van der Woude syndrome,IRF6,interferon regulatory factor 6,Disease-causing germline mutation(s) in,Assessed
888,Van der Woude syndrome,GRHL3,grainyhead like transcription factor 3,Disease-causing germline mutation(s) in,Assessed
871,Hereditary progressive cardiac conduction defect,SCN1B,sodium voltage-gated channel beta subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
871,Hereditary progressive cardiac conduction defect,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
871,Hereditary progressive cardiac conduction defect,NKX2-5,NK2 homeobox 5,Modifying germline mutation in,Assessed
871,Hereditary progressive cardiac conduction defect,TRPM4,transient receptor potential cation channel subfamily M member 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
1587,Monosomy 13q14 syndrome,RB1,RB transcriptional corepressor 1,Role in the phenotype of,Assessed
1627,Deletion 5q35 syndrome,NKX2-5,NK2 homeobox 5,Role in the phenotype of,Assessed
1627,Deletion 5q35 syndrome,NSD1,nuclear receptor binding SET domain protein 1,Role in the phenotype of,Assessed
500,Noonan syndrome with multiple lentigines,PTPN11,protein tyrosine phosphatase non-receptor type 11,Disease-causing germline mutation(s) in,Assessed
500,Noonan syndrome with multiple lentigines,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing germline mutation(s) in,Assessed
500,Noonan syndrome with multiple lentigines,RAF1,"Raf-1 proto-oncogene, serine/threonine kinase",Disease-causing germline mutation(s) (gain of function) in,Assessed
233,Duane retraction syndrome,CHN1,chimerin 1,Disease-causing germline mutation(s) in,Assessed
233,Duane retraction syndrome,MAFB,MAF bZIP transcription factor B,Disease-causing germline mutation(s) (loss of function) in,Assessed
233,Duane retraction syndrome,SALL4,spalt like transcription factor 4,Disease-causing germline mutation(s) in,Assessed
2495,Meningioma,SMARCB1,SWI/SNF related BAF chromatin remodeling complex subunit B1,Disease-causing germline mutation(s) in,Assessed
2495,Meningioma,PDGFB,platelet derived growth factor subunit B,Disease-causing germline mutation(s) in,Assessed
2495,Meningioma,SUFU,SUFU negative regulator of hedgehog signaling,Disease-causing germline mutation(s) in,Assessed
2495,Meningioma,NF2,"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",Disease-causing somatic mutation(s) in,Assessed
2495,Meningioma,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
2495,Meningioma,AKT1,AKT serine/threonine kinase 1,Disease-causing germline mutation(s) in,Assessed
2495,Meningioma,TERT,telomerase reverse transcriptase,Disease-causing somatic mutation(s) in,Assessed
2495,Meningioma,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing germline mutation(s) in,Assessed
2495,Meningioma,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing somatic mutation(s) in,Assessed
2495,Meningioma,SMARCE1,SWI/SNF related BAF chromatin remodeling complex subunit E1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2495,Meningioma,TRAF7,TNF receptor associated factor 7,Disease-causing somatic mutation(s) in,Assessed
2495,Meningioma,SMO,"smoothened, frizzled class receptor",Disease-causing somatic mutation(s) in,Assessed
569,Familial or sporadic hemiplegic migraine,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
569,Familial or sporadic hemiplegic migraine,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) in,Assessed
569,Familial or sporadic hemiplegic migraine,ATP1A2,ATPase Na+/K+ transporting subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
569,Familial or sporadic hemiplegic migraine,PRRT2,proline rich transmembrane protein 2,Disease-causing germline mutation(s) in,Assessed
240,Léri-Weill dyschondrosteosis,SHOX,SHOX homeobox,Disease-causing germline mutation(s) (loss of function) in,Assessed
2311,Autosomal recessive spondylocostal dysostosis,TBX6,T-box transcription factor 6,Disease-causing germline mutation(s) in,Assessed
2311,Autosomal recessive spondylocostal dysostosis,DLL3,delta like canonical Notch ligand 3,Disease-causing germline mutation(s) in,Assessed
2311,Autosomal recessive spondylocostal dysostosis,MESP2,mesoderm posterior bHLH transcription factor 2,Disease-causing germline mutation(s) in,Assessed
2311,Autosomal recessive spondylocostal dysostosis,LFNG,LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,Disease-causing germline mutation(s) in,Assessed
2311,Autosomal recessive spondylocostal dysostosis,HES7,hes family bHLH transcription factor 7,Disease-causing germline mutation(s) in,Assessed
2311,Autosomal recessive spondylocostal dysostosis,RIPPLY2,ripply transcriptional repressor 2,Disease-causing germline mutation(s) in,Assessed
358,Gitelman syndrome,SLC12A3,solute carrier family 12 member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
358,Gitelman syndrome,CLCNKB,chloride voltage-gated channel Kb,Disease-causing germline mutation(s) (loss of function) in,Assessed
242,"46,XY complete gonadal dysgenesis",DHX37,DEAH-box helicase 37,Disease-causing germline mutation(s) in,Assessed
242,"46,XY complete gonadal dysgenesis",WT1,WT1 transcription factor,Candidate gene tested in,Not yet assessed
242,"46,XY complete gonadal dysgenesis",SOX9,SRY-box transcription factor 9,Disease-causing germline mutation(s) in,Assessed
242,"46,XY complete gonadal dysgenesis",SRY,sex determining region Y,Disease-causing germline mutation(s) (loss of function) in,Assessed
242,"46,XY complete gonadal dysgenesis",DHH,desert hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
242,"46,XY complete gonadal dysgenesis",NR5A1,nuclear receptor subfamily 5 group A member 1,Disease-causing germline mutation(s) in,Assessed
242,"46,XY complete gonadal dysgenesis",NR0B1,nuclear receptor subfamily 0 group B member 1,Disease-causing germline mutation(s) in,Assessed
242,"46,XY complete gonadal dysgenesis",CBX2,chromobox 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
242,"46,XY complete gonadal dysgenesis",MAP3K1,mitogen-activated protein kinase kinase kinase 1,Disease-causing germline mutation(s) in,Assessed
242,"46,XY complete gonadal dysgenesis",DMRT1,doublesex and mab-3 related transcription factor 1,Role in the phenotype of,Assessed
2052,Fraser syndrome,FRAS1,Fraser extracellular matrix complex subunit 1,Disease-causing germline mutation(s) in,Assessed
2052,Fraser syndrome,FREM2,FRAS1 related extracellular matrix 2,Disease-causing germline mutation(s) in,Assessed
2052,Fraser syndrome,GRIP1,glutamate receptor interacting protein 1,Disease-causing germline mutation(s) in,Assessed
1358,Carey-Fineman-Ziter syndrome,MYMX,"myomixer, myoblast fusion factor",Disease-causing germline mutation(s) (loss of function) in,Assessed
1358,Carey-Fineman-Ziter syndrome,MYMK,"myomaker, myoblast fusion factor",Disease-causing germline mutation(s) in,Assessed
111,Barth syndrome,TAFAZZIN,"tafazzin, phospholipid-lysophospholipid transacylase",Disease-causing germline mutation(s) (loss of function) in,Assessed
1308,C syndrome,CD96,CD96 molecule,Candidate gene tested in,Not yet assessed
150,Nasopharyngeal carcinoma,NFKBIA,NFKB inhibitor alpha,Disease-causing somatic mutation(s) in,Assessed
133,Chronic beryllium disease,HLA-DPB1,"major histocompatibility complex, class II, DP beta 1",Major susceptibility factor in,Assessed
1552,Currarino syndrome,MNX1,motor neuron and pancreas homeobox 1,Disease-causing germline mutation(s) in,Assessed
624,Familial multiple nevi flammei,GNAQ,G protein subunit alpha q,Disease-causing somatic mutation(s) in,Assessed
3000,Familial peripheral male-limited precocious puberty,LHCGR,luteinizing hormone/choriogonadotropin receptor,Disease-causing germline mutation(s) in,Assessed
920,Ablepharon macrostomia syndrome,TWIST2,twist family bHLH transcription factor 2,Disease-causing germline mutation(s) in,Assessed
7,3C syndrome,VPS35L,VPS35 endosomal protein sorting factor like,Disease-causing germline mutation(s) in,Assessed
7,3C syndrome,DPYSL5,dihydropyrimidinase like 5,Disease-causing germline mutation(s) in,Assessed
7,3C syndrome,WASHC5,WASH complex subunit 5,Disease-causing germline mutation(s) in,Assessed
7,3C syndrome,CCDC22,CCC complex scaffolding subunit CCDC22,Disease-causing germline mutation(s) (loss of function) in,Assessed
931,Isolated acheiropodia,LMBR1,limb development membrane protein 1,Disease-causing germline mutation(s) in,Assessed
869,Triple A syndrome,TRAPPC11,trafficking protein particle complex subunit 11,Disease-causing germline mutation(s) in,Assessed
869,Triple A syndrome,AAAS,aladin WD repeat nucleoporin,Disease-causing germline mutation(s) in,Assessed
869,Triple A syndrome,GMPPA,GDP-mannose pyrophosphorylase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
2297,Insulin-resistance syndrome type A,INSR,insulin receptor,Disease-causing germline mutation(s) in,Assessed
921,Abruzzo-Erickson syndrome,TBX22,T-box transcription factor 22,Disease-causing germline mutation(s) in,Assessed
31,Oxoglutaric aciduria,OGDH,oxoglutarate dehydrogenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
37,Acrodermatitis enteropathica,SLC39A4,solute carrier family 39 member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
950,Acrodysostosis,PDE4D,phosphodiesterase 4D,Disease-causing germline mutation(s) in,Assessed
950,Acrodysostosis,PRKAR1A,protein kinase cAMP-dependent type I regulatory subunit alpha,Disease-causing germline mutation(s) (gain of function) in,Assessed
955,Hajdu-Cheney syndrome,NOTCH2,notch receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
952,"Acrofacial dysostosis, Weyers type",EVC,EvC ciliary complex subunit 1,Disease-causing germline mutation(s) in,Assessed
952,"Acrofacial dysostosis, Weyers type",EVC2,EvC ciliary complex subunit 2,Disease-causing germline mutation(s) in,Assessed
952,"Acrofacial dysostosis, Weyers type",CTNNB1,catenin beta 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
1713,17p11.2 microduplication syndrome,RAI1,retinoic acid induced 1,Role in the phenotype of,Assessed
1762,Proximal Xq28 duplication syndrome,MECP2,methyl-CpG binding protein 2,Role in the phenotype of,Assessed
1878,TRIM32-related limb-girdle muscular dystrophy R8,TRIM32,tripartite motif containing 32,Disease-causing germline mutation(s) in,Assessed
1946,Amelocerebrohypohidrotic syndrome,SLC13A5,solute carrier family 13 member 5,Disease-causing germline mutation(s) in,Assessed
1946,Amelocerebrohypohidrotic syndrome,ROGDI,rogdi atypical leucine zipper,Disease-causing germline mutation(s) (loss of function) in,Assessed
2604,Familial visceral myopathy,ACTG2,"actin gamma 2, smooth muscle",Disease-causing germline mutation(s) in,Assessed
156,Carnitine palmitoyl transferase 1A deficiency,CPT1A,carnitine palmitoyltransferase 1A,Disease-causing germline mutation(s) (loss of function) in,Assessed
2598,Mitochondrial myopathy and sideroblastic anemia,PUS1,pseudouridine synthase 1,Disease-causing germline mutation(s) in,Assessed
2598,Mitochondrial myopathy and sideroblastic anemia,YARS2,tyrosyl-tRNA synthetase 2,Disease-causing germline mutation(s) in,Assessed
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,TP63,tumor protein p63,Disease-causing germline mutation(s) in,Assessed
1053,Vein of Galen malformation,EPHB4,EPH receptor B4,Disease-causing germline mutation(s) (loss of function) in,Assessed
1052,Mosaic variegated aneuploidy syndrome,TRIP13,thyroid hormone receptor interactor 13,Disease-causing germline mutation(s) in,Assessed
1052,Mosaic variegated aneuploidy syndrome,BUB1B,BUB1 mitotic checkpoint serine/threonine kinase B,Disease-causing germline mutation(s) in,Assessed
1052,Mosaic variegated aneuploidy syndrome,CEP57,centrosomal protein 57,Disease-causing germline mutation(s) in,Assessed
1052,Mosaic variegated aneuploidy syndrome,BUB1,BUB1 mitotic checkpoint serine/threonine kinase,Disease-causing germline mutation(s) in,Assessed
1052,Mosaic variegated aneuploidy syndrome,BUB3,BUB3 mitotic checkpoint protein,Disease-causing germline mutation(s) in,Assessed
1040,Metaphyseal anadysplasia,MMP13,matrix metallopeptidase 13,Disease-causing germline mutation(s) (loss of function) in,Assessed
1040,Metaphyseal anadysplasia,MMP13,matrix metallopeptidase 13,Disease-causing germline mutation(s) (gain of function) in,Assessed
1040,Metaphyseal anadysplasia,MMP9,matrix metallopeptidase 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
1106,Microphthalmia with limb anomalies,SMOC1,SPARC related modular calcium binding 1,Disease-causing germline mutation(s) in,Assessed
990,Agnathia-holoprosencephaly-situs inversus syndrome,OTX2,orthodenticle homeobox 2,Modifying germline mutation in,Assessed
990,Agnathia-holoprosencephaly-situs inversus syndrome,PRRX1,paired related homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,SLC18A3,solute carrier family 18 member A3,Disease-causing germline mutation(s) in,Assessed
994,Fetal akinesia deformation sequence,MYOD1,myogenic differentiation 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,RAPSN,receptor associated protein of the synapse,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,DOK7,docking protein 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,MUSK,muscle associated receptor tyrosine kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,NUP88,nucleoporin 88,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,GLDN,gliomedin,Disease-causing germline mutation(s) in,Assessed
994,Fetal akinesia deformation sequence,KIF21A,kinesin family member 21A,Disease-causing germline mutation(s) (loss of function) in,Assessed
994,Fetal akinesia deformation sequence,MAGEL2,MAGE family member L2,Disease-causing germline mutation(s) in,Assessed
994,Fetal akinesia deformation sequence,TUBA1A,tubulin alpha 1a,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,LSM11,"LSM11, U7 small nuclear RNA associated",Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,RNU7-1,"RNA, U7 small nuclear 1",Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,SAMHD1,SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,RNASEH2A,ribonuclease H2 subunit A,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,RNASEH2B,ribonuclease H2 subunit B,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,RNASEH2C,ribonuclease H2 subunit C,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,ADAR,adenosine deaminase RNA specific,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,TREX1,three prime repair exonuclease 1,Disease-causing germline mutation(s) in,Assessed
51,Aicardi-Goutières syndrome,IFIH1,interferon induced with helicase C domain 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
978,ADULT syndrome,TP63,tumor protein p63,Disease-causing germline mutation(s) in,Assessed
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,LMBR1,limb development membrane protein 1,Disease-causing germline mutation(s) in,Assessed
983,Testicular regression syndrome,DHX37,DEAH-box helicase 37,Disease-causing germline mutation(s) in,Assessed
970,Hereditary sensory and autonomic neuropathy type 2,SCN9A,sodium voltage-gated channel alpha subunit 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
970,Hereditary sensory and autonomic neuropathy type 2,WNK1,WNK lysine deficient protein kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
970,Hereditary sensory and autonomic neuropathy type 2,RETREG1,reticulophagy regulator 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
970,Hereditary sensory and autonomic neuropathy type 2,KIF1A,kinesin family member 1A,Disease-causing germline mutation(s) (loss of function) in,Assessed
40,"Acromesomelic dysplasia, Maroteaux type",NPR2,natriuretic peptide receptor 2,Disease-causing germline mutation(s) in,Assessed
969,Acromicric dysplasia,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
969,Acromicric dysplasia,LTBP3,latent transforming growth factor beta binding protein 3,Disease-causing germline mutation(s) in,Assessed
974,Adams-Oliver syndrome,NOTCH1,notch receptor 1,Disease-causing germline mutation(s) in,Assessed
974,Adams-Oliver syndrome,ARHGAP31,Rho GTPase activating protein 31,Disease-causing germline mutation(s) (gain of function) in,Assessed
974,Adams-Oliver syndrome,DOCK6,dedicator of cytokinesis 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
974,Adams-Oliver syndrome,RBPJ,recombination signal binding protein for immunoglobulin kappa J region,Disease-causing germline mutation(s) in,Assessed
974,Adams-Oliver syndrome,EOGT,EGF domain specific O-linked N-acetylglucosamine transferase,Disease-causing germline mutation(s) in,Assessed
974,Adams-Oliver syndrome,DLL4,delta like canonical Notch ligand 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
972,Hereditary continuous muscle fiber activity,KCNA1,potassium voltage-gated channel subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
959,Acro-renal-ocular syndrome,SALL4,spalt like transcription factor 4,Disease-causing germline mutation(s) in,Assessed
968,"Acromesomelic dysplasia, Hunter-Thompson type",GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
139411,Carney triad,SDHA,succinate dehydrogenase complex flavoprotein subunit A,Major susceptibility factor in,Assessed
139411,Carney triad,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Major susceptibility factor in,Assessed
139411,Carney triad,SDHC,succinate dehydrogenase complex subunit C,Major susceptibility factor in,Assessed
1031,Enamel-renal syndrome,FAM20A,FAM20A golgi associated secretory pathway pseudokinase,Disease-causing germline mutation(s) in,Assessed
64,Alström syndrome,ALMS1,ALMS1 centrosome and basal body associated protein,Disease-causing germline mutation(s) in,Assessed
139396,X-linked cerebral adrenoleukodystrophy,ABCD1,ATP binding cassette subfamily D member 1,Disease-causing germline mutation(s) in,Assessed
139399,Adrenomyeloneuropathy,ABCD1,ATP binding cassette subfamily D member 1,Disease-causing germline mutation(s) in,Assessed
139406,Encephalopathy due to prosaposin deficiency,PSAP,prosaposin,Disease-causing germline mutation(s) in,Assessed
701,Alopecia universalis,HR,HR lysine demethylase and nuclear receptor corepressor,Disease-causing germline mutation(s) in,Assessed
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,GJA1,gap junction protein alpha 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
1001,2q37 microdeletion syndrome,HDAC4,histone deacetylase 4,Role in the phenotype of,Assessed
59,Allan-Herndon-Dudley syndrome,SLC16A2,solute carrier family 16 member 2,Disease-causing germline mutation(s) in,Assessed
127,Borjeson-Forssman-Lehmann syndrome,PHF6,PHD finger protein 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
1263,Boomerang dysplasia,FLNB,filamin B,Disease-causing germline mutation(s) in,Assessed
1234,Bartsocas-Papas syndrome,RIPK4,receptor interacting serine/threonine kinase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
1231,Barber-Say syndrome,TWIST2,twist family bHLH transcription factor 2,Disease-causing germline mutation(s) in,Assessed
1229,Pseudo-TORCH syndrome type 1,OCLN,occludin,Disease-causing germline mutation(s) (loss of function) in,Assessed
109,Bannayan-Riley-Ruvalcaba syndrome,PTEN,phosphatase and tensin homolog,Disease-causing germline mutation(s) in,Assessed
1239,Behr syndrome,OPA1,OPA1 mitochondrial dynamin like GTPase,Disease-causing germline mutation(s) in,Assessed
115,Congenital contractural arachnodactyly,FBN2,fibrillin 2,Disease-causing germline mutation(s) in,Assessed
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,GYS1,glycogen synthase 1,Disease-causing germline mutation(s) in,Assessed
137608,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,PTEN,phosphatase and tensin homolog,Disease-causing germline mutation(s) in,Assessed
1299,Branchioskeletogenital syndrome,CDH11,cadherin 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
1300,Autosomal dominant popliteal pterygium syndrome,IRF6,interferon regulatory factor 6,Disease-causing germline mutation(s) in,Assessed
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,RNF135,ring finger protein 135,Disease-causing germline mutation(s) in,Assessed
1297,Branchio-oculo-facial syndrome,TFAP2A,transcription factor AP-2 alpha,Disease-causing germline mutation(s) in,Assessed
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,POLR3A,RNA polymerase III subunit A,Disease-causing germline mutation(s) in,Assessed
1276,Brachydactyly-arterial hypertension syndrome,PDE3A,phosphodiesterase 3A,Disease-causing germline mutation(s) (gain of function) in,Assessed
1275,Brachydactyly-elbow wrist dysplasia syndrome,MACROH2A1,macroH2A.1 histone,Disease-causing germline mutation(s) in,Assessed
1275,Brachydactyly-elbow wrist dysplasia syndrome,PITX1,paired like homeodomain 1,Disease-causing germline mutation(s) in,Assessed
1270,Bowen-Conradi syndrome,EMG1,EMG1 N1-specific pseudouridine methyltransferase,Disease-causing germline mutation(s) in,Assessed
137605,Legius syndrome,SPRED1,sprouty related EVH1 domain containing 1,Disease-causing germline mutation(s) in,Assessed
1168,Ataxia-oculomotor apraxia type 1,APTX,aprataxin,Disease-causing germline mutation(s) in,Assessed
137834,Frank-Ter Haar syndrome,SH3PXD2B,SH3 and PX domains 2B,Disease-causing germline mutation(s) (loss of function) in,Assessed
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,OPHN1,oligophrenin 1,Disease-causing germline mutation(s) in,Assessed
1170,Autosomal recessive cerebelloparenchymal disorder type 3,PMPCA,"peptidase, mitochondrial processing subunit alpha",Disease-causing germline mutation(s) in,Assessed
1175,X-linked progressive cerebellar ataxia,GJB1,gap junction protein beta 1,Disease-causing germline mutation(s) in,Assessed
1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,PNPLA6,"patatin like domain 6, lysophospholipase",Disease-causing germline mutation(s) in,Assessed
1173,Cerebellar ataxia-hypogonadism syndrome,PNPLA6,"patatin like domain 6, lysophospholipase",Disease-causing germline mutation(s) in,Assessed
1173,Cerebellar ataxia-hypogonadism syndrome,RNF216,ring finger protein 216,Disease-causing germline mutation(s) (loss of function) in,Assessed
137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,GFM1,G elongation factor mitochondrial 1,Disease-causing germline mutation(s) in,Assessed
137675,Histiocytoid cardiomyopathy,MT-CYB,mitochondrially encoded cytochrome b,Candidate gene tested in,Not yet assessed
137678,Spondyloepiphyseal dysplasia with metatarsal shortening,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
137754,Aminoacylase 1 deficiency,ACY1,aminoacylase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1145,Infantile-onset X-linked spinal muscular atrophy,UBA1,ubiquitin like modifier activating enzyme 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
137776,Lethal congenital contracture syndrome type 2,ERBB3,erb-b2 receptor tyrosine kinase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
1149,Kuskokwim syndrome,FKBP10,FKBP prolyl isomerase 10,Disease-causing germline mutation(s) in,Assessed
1159,Progressive pseudorheumatoid dysplasia,CCN6,cellular communication network factor 6,Disease-causing germline mutation(s) in,Assessed
137783,Lethal congenital contracture syndrome type 3,PIP5K1C,phosphatidylinositol-4-phosphate 5-kinase type 1 gamma,Disease-causing germline mutation(s) in,Assessed
137783,Lethal congenital contracture syndrome type 3,MYBPC1,myosin binding protein C1,Disease-causing germline mutation(s) in,Assessed
1215,Autosomal dominant optic atrophy plus syndrome,OPA1,OPA1 mitochondrial dynamin like GTPase,Disease-causing germline mutation(s) in,Assessed
1216,Autosomal dominant congenital benign spinal muscular atrophy,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) in,Assessed
1225,Baller-Gerold syndrome,RECQL4,RecQ like helicase 4,Disease-causing germline mutation(s) in,Assessed
1226,Bamforth-Lazarus syndrome,FOXE1,forkhead box E1,Disease-causing germline mutation(s) (loss of function) in,Assessed
137888,Auriculocondylar syndrome,GNAI3,G protein subunit alpha i3,Disease-causing germline mutation(s) in,Assessed
137888,Auriculocondylar syndrome,PLCB4,phospholipase C beta 4,Disease-causing germline mutation(s) in,Assessed
137888,Auriculocondylar syndrome,EDN1,endothelin 1,Disease-causing germline mutation(s) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,AURKC,aurora kinase C,Disease-causing germline mutation(s) (loss of function) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,DNHD1,dynein heavy chain domain 1,Disease-causing germline mutation(s) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,CFAP47,cilia and flagella associated protein 47,Disease-causing germline mutation(s) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,DNAH10,dynein axonemal heavy chain 10,Disease-causing germline mutation(s) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,AKAP3,A-kinase anchoring protein 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,CFAP61,cilia and flagella associated protein 61,Disease-causing germline mutation(s) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,ARMC12,armadillo repeat containing 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,IFT74,intraflagellar transport 74,Disease-causing germline mutation(s) in,Assessed
1186,Infantile-onset spinocerebellar ataxia,TWNK,twinkle mtDNA helicase,Disease-causing germline mutation(s) in,Assessed
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,DARS2,"aspartyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
1187,Lethal ataxia with deafness and optic atrophy,PRPS1,phosphoribosyl pyrophosphate synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1190,Atelosteogenesis type I,FLNB,filamin B,Disease-causing germline mutation(s) (gain of function) in,Assessed
137908,Hypotonia with lactic acidemia and hyperammonemia,MRPS22,mitochondrial ribosomal protein S22,Disease-causing germline mutation(s) in,Assessed
1200,Burn-McKeown syndrome,POLR1A,RNA polymerase I subunit A,Disease-causing germline mutation(s) in,Assessed
1200,Burn-McKeown syndrome,TXNL4A,thioredoxin like 4A,Disease-causing germline mutation(s) (loss of function) in,Assessed
141258,Tessier number 4 facial cleft,SPECC1L,sperm antigen with calponin homology and coiled-coil domains 1 like,Disease-causing germline mutation(s) in,Assessed
1458,CODAS syndrome,LONP1,"lon peptidase 1, mitochondrial",Disease-causing germline mutation(s) in,Assessed
1454,Joubert syndrome with hepatic defect,TMEM67,transmembrane protein 67,Disease-causing germline mutation(s) in,Assessed
1454,Joubert syndrome with hepatic defect,RPGRIP1L,RPGRIP1 like,Disease-causing germline mutation(s) in,Assessed
1454,Joubert syndrome with hepatic defect,CC2D2A,coiled-coil and C2 domain containing 2A,Disease-causing germline mutation(s) in,Assessed
1454,Joubert syndrome with hepatic defect,INPP5E,inositol polyphosphate-5-phosphatase E,Disease-causing germline mutation(s) in,Assessed
190,Coats disease,NDP,norrin cystine knot growth factor NDP,Candidate gene tested in,Not yet assessed
1429,Benign hereditary chorea,NKX2-1,NK2 homeobox 1,Disease-causing germline mutation(s) in,Assessed
1429,Benign hereditary chorea,ADCY5,adenylate cyclase 5,Disease-causing germline mutation(s) in,Assessed
1426,Greenberg dysplasia,LBR,lamin B receptor,Disease-causing germline mutation(s) in,Assessed
1427,Autosomal recessive otospondylomegaepiphyseal dysplasia,COL11A2,collagen type XI alpha 2 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
1435,Xq21 microdeletion syndrome,POU3F4,POU class 3 homeobox 4,Disease-causing germline mutation(s) in,Assessed
155878,Submucosal cleft palate,GRHL3,grainyhead like transcription factor 3,Major susceptibility factor in,Assessed
155878,Submucosal cleft palate,UBB,ubiquitin B,Candidate gene tested in,Not yet assessed
1490,Corneal dystrophy-perceptive deafness syndrome,SLC4A11,solute carrier family 4 member 11,Disease-causing germline mutation(s) in,Assessed
1486,Lethal congenital contracture syndrome type 1,GLE1,GLE1 RNA export mediator,Disease-causing germline mutation(s) in,Assessed
141276,Tessier number 7 facial cleft,PTCH2,patched 2,Disease-causing germline mutation(s) in,Assessed
141276,Tessier number 7 facial cleft,SPECC1L,sperm antigen with calponin homology and coiled-coil domains 1 like,Disease-causing germline mutation(s) in,Assessed
1466,COFS syndrome,ERCC2,"ERCC excision repair 2, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
1466,COFS syndrome,ERCC6,"ERCC excision repair 6, chromatin remodeling factor",Disease-causing germline mutation(s) in,Assessed
1466,COFS syndrome,ERCC5,"ERCC excision repair 5, endonuclease",Disease-causing germline mutation(s) in,Assessed
1466,COFS syndrome,ERCC1,"ERCC excision repair 1, endonuclease non-catalytic subunit",Disease-causing germline mutation(s) in,Assessed
141291,Cleft lip and alveolus,MSX1,msh homeobox 1,Major susceptibility factor in,Assessed
141291,Cleft lip and alveolus,TP63,tumor protein p63,Major susceptibility factor in,Assessed
141291,Cleft lip and alveolus,IRF6,interferon regulatory factor 6,Major susceptibility factor in,Assessed
141291,Cleft lip and alveolus,NECTIN1,nectin cell adhesion molecule 1,Major susceptibility factor in,Assessed
1410,Uncombable hair syndrome,PADI3,peptidyl arginine deiminase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
1410,Uncombable hair syndrome,TGM3,transglutaminase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
1412,Tarsal-carpal coalition syndrome,NOG,noggin,Disease-causing germline mutation(s) in,Assessed
1416,Familial calcium pyrophosphate deposition,TNFRSF11B,TNF receptor superfamily member 11b,Candidate gene tested in,Not yet assessed
1416,Familial calcium pyrophosphate deposition,ANKH,ANKH inorganic pyrophosphate transport regulator,Disease-causing germline mutation(s) in,Assessed
1394,Cerebrofaciothoracic dysplasia,TMCO1,transmembrane and coiled-coil domains 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1401,CHAND syndrome,RIPK4,receptor interacting serine/threonine kinase 4,Disease-causing germline mutation(s) in,Assessed
141074,External auditory canal aplasia/hypoplasia,TSHZ1,teashirt zinc finger homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
174,"Metaphyseal chondrodysplasia, Schmid type",COL10A1,collagen type X alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
1425,Desbuquois syndrome,CSGALNACT1,chondroitin sulfate N-acetylgalactosaminyltransferase 1,Disease-causing germline mutation(s) in,Assessed
1425,Desbuquois syndrome,CANT1,calcium activated nucleotidase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1425,Desbuquois syndrome,XYLT1,xylosyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",MATN3,matrilin 3,Disease-causing germline mutation(s) in,Assessed
163,Hereditary hyperferritinemia-cataract syndrome,FTL,ferritin light chain,Disease-causing germline mutation(s) (gain of function) in,Assessed
1366,Autosomal recessive palmoplantar keratoderma and congenital alopecia,LSS,lanosterol synthase,Disease-causing germline mutation(s) in,Assessed
1393,Cerebrocostomandibular syndrome,SNRPB,small nuclear ribonucleoprotein polypeptides B and B1,Disease-causing germline mutation(s) in,Assessed
157820,Cold-induced sweating syndrome,KLHL7,kelch like family member 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
157820,Cold-induced sweating syndrome,CRLF1,cytokine receptor like factor 1,Disease-causing germline mutation(s) in,Assessed
157820,Cold-induced sweating syndrome,CLCF1,cardiotrophin like cytokine factor 1,Disease-causing germline mutation(s) in,Assessed
157798,Serrated polyposis syndrome,RNF43,ring finger protein 43,Disease-causing germline mutation(s) in,Assessed
1388,Catel-Manzke syndrome,TGDS,"TDP-glucose 4,6-dehydratase",Disease-causing germline mutation(s) in,Assessed
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,BHLHA9,basic helix-loop-helix family member a9,Disease-causing germline mutation(s) in,Assessed
1387,Cataract-intellectual disability-hypogonadism syndrome,RAB3GAP1,RAB3 GTPase activating protein catalytic subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1387,Cataract-intellectual disability-hypogonadism syndrome,RAB3GAP2,RAB3 GTPase activating non-catalytic protein subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
157791,Epithelioid hemangioendothelioma,TFE3,transcription factor binding to IGHM enhancer 3,Part of a fusion gene in,Assessed
157791,Epithelioid hemangioendothelioma,CAMTA1,calmodulin binding transcription activator 1,Part of a fusion gene in,Assessed
157791,Epithelioid hemangioendothelioma,YAP1,Yes1 associated transcriptional regulator,Part of a fusion gene in,Assessed
157791,Epithelioid hemangioendothelioma,WWTR1,WW domain containing transcription regulator 1,Part of a fusion gene in,Assessed
157794,Hereditary mixed polyposis syndrome,BMPR1A,bone morphogenetic protein receptor type 1A,Disease-causing germline mutation(s) (loss of function) in,Assessed
157794,Hereditary mixed polyposis syndrome,GREM1,"gremlin 1, DAN family BMP antagonist",Disease-causing germline mutation(s) in,Assessed
157769,Situs ambiguus,PKD1L1,"polycystin 1 like 1, transient receptor potential channel interacting",Disease-causing germline mutation(s) in,Assessed
157769,Situs ambiguus,ZIC3,Zic family zinc finger 3,Major susceptibility factor in,Not yet assessed
157769,Situs ambiguus,ACVR2B,activin A receptor type 2B,Major susceptibility factor in,Not yet assessed
157769,Situs ambiguus,LEFTY2,left-right determination factor 2,Major susceptibility factor in,Not yet assessed
157769,Situs ambiguus,NODAL,nodal growth differentiation factor,Candidate gene tested in,Not yet assessed
157769,Situs ambiguus,CFAP53,cilia and flagella associated protein 53,Disease-causing germline mutation(s) in,Assessed
157769,Situs ambiguus,MMP21,matrix metallopeptidase 21,Disease-causing germline mutation(s) (loss of function) in,Assessed
157769,Situs ambiguus,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
157769,Situs ambiguus,CIROP,ciliated left-right organizer metallopeptidase,Disease-causing germline mutation(s) in,Assessed
157769,Situs ambiguus,DNAH9,dynein axonemal heavy chain 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
157769,Situs ambiguus,CFC1,"cryptic, EGF-CFC family member 1",Candidate gene tested in,Not yet assessed
157716,Late infantile CACH syndrome,EIF2B1,eukaryotic translation initiation factor 2B subunit alpha,Disease-causing germline mutation(s) in,Assessed
157716,Late infantile CACH syndrome,EIF2B2,eukaryotic translation initiation factor 2B subunit beta,Disease-causing germline mutation(s) in,Assessed
157716,Late infantile CACH syndrome,EIF2B3,eukaryotic translation initiation factor 2B subunit gamma,Disease-causing germline mutation(s) in,Assessed
157716,Late infantile CACH syndrome,EIF2B4,eukaryotic translation initiation factor 2B subunit delta,Disease-causing germline mutation(s) in,Assessed
157716,Late infantile CACH syndrome,EIF2B5,eukaryotic translation initiation factor 2B subunit epsilon,Disease-causing germline mutation(s) in,Assessed
157719,Juvenile or adult CACH syndrome,EIF2B1,eukaryotic translation initiation factor 2B subunit alpha,Disease-causing germline mutation(s) in,Assessed
157719,Juvenile or adult CACH syndrome,EIF2B2,eukaryotic translation initiation factor 2B subunit beta,Disease-causing germline mutation(s) in,Assessed
157719,Juvenile or adult CACH syndrome,EIF2B3,eukaryotic translation initiation factor 2B subunit gamma,Disease-causing germline mutation(s) in,Assessed
157719,Juvenile or adult CACH syndrome,EIF2B4,eukaryotic translation initiation factor 2B subunit delta,Disease-causing germline mutation(s) in,Assessed
157719,Juvenile or adult CACH syndrome,EIF2B5,eukaryotic translation initiation factor 2B subunit epsilon,Disease-causing germline mutation(s) in,Assessed
157713,Congenital or early infantile CACH syndrome,EIF2B1,eukaryotic translation initiation factor 2B subunit alpha,Disease-causing germline mutation(s) in,Assessed
157713,Congenital or early infantile CACH syndrome,EIF2B2,eukaryotic translation initiation factor 2B subunit beta,Disease-causing germline mutation(s) in,Assessed
157713,Congenital or early infantile CACH syndrome,EIF2B3,eukaryotic translation initiation factor 2B subunit gamma,Disease-causing germline mutation(s) in,Assessed
157713,Congenital or early infantile CACH syndrome,EIF2B4,eukaryotic translation initiation factor 2B subunit delta,Disease-causing germline mutation(s) in,Assessed
157713,Congenital or early infantile CACH syndrome,EIF2B5,eukaryotic translation initiation factor 2B subunit epsilon,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,CRYAA,crystallin alpha A,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,CRYBA4,crystallin beta A4,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,CRYGC,crystallin gamma C,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,CRYGD,crystallin gamma D,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,GJA8,gap junction protein alpha 8,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,CRYBB1,crystallin beta B1,Disease-causing germline mutation(s) in,Assessed
1377,Cataract-microcornea syndrome,MAF,MAF bZIP transcription factor,Disease-causing germline mutation(s) in,Assessed
157215,Hereditary hypophosphatemic rickets with hypercalciuria,SLC34A3,solute carrier family 34 member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
157215,Hereditary hypophosphatemic rickets with hypercalciuria,SLC34A1,solute carrier family 34 member 1,Disease-causing germline mutation(s) in,Assessed
1328,Camurati-Engelmann disease,TGFB1,transforming growth factor beta 1,Disease-causing germline mutation(s) in,Assessed
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,WDPCP,WD repeat containing planar cell polarity effector,Disease-causing germline mutation(s) in,Assessed
1340,Cardiofaciocutaneous syndrome,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing germline mutation(s) (gain of function) in,Assessed
1340,Cardiofaciocutaneous syndrome,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing germline mutation(s) (gain of function) in,Assessed
1340,Cardiofaciocutaneous syndrome,MAP2K1,mitogen-activated protein kinase kinase 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
1340,Cardiofaciocutaneous syndrome,MAP2K2,mitogen-activated protein kinase kinase 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
2856,Persistent Müllerian duct syndrome,AMH,anti-Mullerian hormone,Disease-causing germline mutation(s) in,Assessed
2856,Persistent Müllerian duct syndrome,AMHR2,anti-Mullerian hormone receptor type 2,Disease-causing germline mutation(s) in,Assessed
1766,Dysequilibrium syndrome,VLDLR,very low density lipoprotein receptor,Disease-causing germline mutation(s) in,Assessed
1766,Dysequilibrium syndrome,WDR81,WD repeat domain 81,Disease-causing germline mutation(s) in,Assessed
1766,Dysequilibrium syndrome,CA8,carbonic anhydrase 8,Disease-causing germline mutation(s) in,Assessed
1766,Dysequilibrium syndrome,ATP8A2,ATPase phospholipid transporting 8A2,Disease-causing germline mutation(s) in,Assessed
1766,Dysequilibrium syndrome,TUBB2B,tubulin beta 2B class IIb,Disease-causing germline mutation(s) in,Assessed
1777,Temtamy syndrome,C12ORF57,chromosome 12 open reading frame 57,Disease-causing germline mutation(s) in,Assessed
1772,"45,X/46,XY mixed gonadal dysgenesis",SRY,sex determining region Y,Candidate gene tested in,Not yet assessed
1782,Dysosteosclerosis,TNFRSF11A,TNF receptor superfamily member 11a,Disease-causing germline mutation(s) in,Assessed
1782,Dysosteosclerosis,TCIRG1,"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",Disease-causing germline mutation(s) in,Assessed
1782,Dysosteosclerosis,SLC29A3,solute carrier family 29 member 3,Disease-causing germline mutation(s) in,Not yet assessed
1788,"Acrofacial dysostosis, Rodríguez type",SF3B4,splicing factor 3b subunit 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
859,Transcobalamin deficiency,TCN2,transcobalamin 2,Disease-causing germline mutation(s) in,Assessed
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,TUBB4A,tubulin beta 4A class IVa,Disease-causing germline mutation(s) in,Assessed
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,UFM1,ubiquitin fold modifier 1,Disease-causing germline mutation(s) in,Assessed
139447,Progressive cavitating leukoencephalopathy,NDUFV2,NADH:ubiquinone oxidoreductase core subunit V2,Disease-causing germline mutation(s) in,Assessed
1573,Hypotrichosis with juvenile macular degeneration,CDH3,cadherin 3,Disease-causing germline mutation(s) in,Assessed
726,Alpers-Huttenlocher syndrome,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
139455,Autosomal recessive bestrophinopathy,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
139466,SERKAL syndrome,WNT4,Wnt family member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
1596,Distal deletion 15q syndrome,MCTP2,multiple C2 and transmembrane domain containing 2,Role in the phenotype of,Assessed
139471,Microphthalmia with brain and digit anomalies,BMP4,bone morphogenetic protein 4,Disease-causing germline mutation(s) in,Assessed
139474,17q11.2 microduplication syndrome,NF1,neurofibromin 1,Role in the phenotype of,Assessed
1617,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,NR4A2,nuclear receptor subfamily 4 group A member 2,Role in the phenotype of,Assessed
1617,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,TBR1,T-box brain transcription factor 1,Candidate gene tested in,Not yet assessed
1606,1p36 deletion syndrome,RERE,arginine-glutamic acid dipeptide repeats,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,PRKCZ,protein kinase C zeta,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,UBE4B,ubiquitination factor E4B,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,MMP23B,matrix metallopeptidase 23B,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,GABRD,gamma-aminobutyric acid type A receptor subunit delta,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,SKI,SKI proto-oncogene,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,KCNAB2,potassium voltage-gated channel subfamily A regulatory beta subunit 2,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,PRDM16,PR/SET domain 16,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,CASZ1,castor zinc finger 1,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,SPEN,spen family transcriptional repressor,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,PDPN,podoplanin,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,LUZP1,leucine zipper protein 1,Role in the phenotype of,Assessed
1606,1p36 deletion syndrome,HSPG2,heparan sulfate proteoglycan 2,Role in the phenotype of,Assessed
139480,Autosomal recessive spastic paraplegia type 39,PNPLA6,"patatin like domain 6, lysophospholipase",Disease-causing germline mutation(s) in,Assessed
139485,Autosomal recessive ataxia due to ubiquinone deficiency,COQ8A,coenzyme Q8A,Disease-causing germline mutation(s) in,Assessed
139515,Charcot-Marie-Tooth disease type 4J,FIG4,FIG4 phosphoinositide 5-phosphatase,Disease-causing germline mutation(s) in,Assessed
139512,Neuropathy with hearing impairment,GJB3,gap junction protein beta 3,Disease-causing germline mutation(s) in,Assessed
139525,Distal hereditary motor neuropathy type 2,HSPB1,heat shock protein family B (small) member 1,Disease-causing germline mutation(s) in,Assessed
139525,Distal hereditary motor neuropathy type 2,HSPB8,heat shock protein family B (small) member 8,Disease-causing germline mutation(s) in,Assessed
139525,Distal hereditary motor neuropathy type 2,HSPB3,heat shock protein family B (small) member 3,Disease-causing germline mutation(s) in,Assessed
139525,Distal hereditary motor neuropathy type 2,FBXO38,F-box protein 38,Disease-causing germline mutation(s) in,Assessed
1658,Absence of fingerprints-congenital milia syndrome,SMARCAD1,SNF2 related chromatin remodeling ATPase with DExD box 1,Disease-causing germline mutation(s) in,Assessed
139536,Distal hereditary motor neuropathy type 5,REEP1,receptor accessory protein 1,Disease-causing germline mutation(s) in,Assessed
139536,Distal hereditary motor neuropathy type 5,BSCL2,"BSCL2 lipid droplet biogenesis associated, seipin",Disease-causing germline mutation(s) in,Assessed
139536,Distal hereditary motor neuropathy type 5,GARS1,glycyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
139557,X-linked distal spinal muscular atrophy type 3,ATP7A,ATPase copper transporting alpha,Disease-causing germline mutation(s) in,Assessed
1662,Restrictive dermopathy,ZMPSTE24,zinc metallopeptidase STE24,Disease-causing germline mutation(s) in,Assessed
1662,Restrictive dermopathy,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
139552,"Distal hereditary motor neuropathy, Jerash type",SIGMAR1,sigma non-opioid intracellular receptor 1,Disease-causing germline mutation(s) in,Assessed
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,AIFM1,apoptosis inducing factor mitochondria associated 1,Disease-causing germline mutation(s) in,Assessed
1667,Wolcott-Rallison syndrome,EIF2AK3,eukaryotic translation initiation factor 2 alpha kinase 3,Disease-causing germline mutation(s) in,Assessed
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,CCT5,chaperonin containing TCP1 subunit 5,Disease-causing germline mutation(s) in,Assessed
139589,Distal hereditary motor neuropathy type 7,DCTN1,dynactin subunit 1,Disease-causing germline mutation(s) in,Assessed
139589,Distal hereditary motor neuropathy type 7,SLC5A7,solute carrier family 5 member 7,Disease-causing germline mutation(s) in,Assessed
140917,Stapes ankylosis with broad thumbs and toes,NOG,noggin,Disease-causing germline mutation(s) in,Assessed
140922,Titin-related limb-girdle muscular dystrophy R10,TTN,titin,Disease-causing germline mutation(s) in,Assessed
1545,Crisponi syndrome,CRLF1,cytokine receptor like factor 1,Disease-causing germline mutation(s) in,Assessed
1545,Crisponi syndrome,CLCF1,cardiotrophin like cytokine factor 1,Disease-causing germline mutation(s) in,Assessed
140905,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,LIPC,"lipase C, hepatic type",Disease-causing germline mutation(s) in,Assessed
1540,Jackson-Weiss syndrome,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) in,Assessed
140908,Brachydactyly type B2,NOG,noggin,Disease-causing germline mutation(s) in,Assessed
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,CCNQ,cyclin Q,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,TUBA8,tubulin alpha 8,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,GP1BA,glycoprotein Ib platelet subunit alpha,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,TRPM7,transient receptor potential cation channel subfamily M member 7,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,GFI1B,growth factor independent 1B transcriptional repressor,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,GP1BB,glycoprotein Ib platelet subunit beta,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,TPM4,tropomyosin 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,ITGA2B,integrin subunit alpha 2b,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,ITGB3,integrin subunit beta 3,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,TUBB1,tubulin beta 1 class VI,Disease-causing germline mutation(s) in,Assessed
140957,Autosomal dominant macrothrombocytopenia,ACTN1,actinin alpha 1,Disease-causing germline mutation(s) in,Assessed
140944,CLOVES syndrome,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) in,Assessed
140941,Short stature due to primary acid-labile subunit deficiency,IGFALS,insulin like growth factor binding protein acid labile subunit,Disease-causing germline mutation(s) in,Assessed
1553,Curry-Jones syndrome,SMO,"smoothened, frizzled class receptor",Disease-causing somatic mutation(s) in,Assessed
140927,Self-limited neonatal-infantile epilepsy,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) in,Assessed
140927,Self-limited neonatal-infantile epilepsy,KCNQ2,potassium voltage-gated channel subfamily Q member 2,Disease-causing germline mutation(s) in,Assessed
140976,RHYNS syndrome,TMEM67,transmembrane protein 67,Disease-causing germline mutation(s) in,Assessed
140969,Saldino-Mainzer syndrome,IFT140,intraflagellar transport 140,Disease-causing germline mutation(s) in,Assessed
140969,Saldino-Mainzer syndrome,IFT172,intraflagellar transport 172,Disease-causing germline mutation(s) in,Assessed
140966,"Palmoplantar keratoderma, Nagashima type",SERPINB7,serpin family B member 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
140963,Bilateral microtia-deafness-cleft palate syndrome,HOXA2,homeobox A2,Disease-causing germline mutation(s) in,Assessed
382,Guanidinoacetate methyltransferase deficiency,GAMT,guanidinoacetate N-methyltransferase,Disease-causing germline mutation(s) in,Assessed
742,Prolidase deficiency,PEPD,peptidase D,Disease-causing germline mutation(s) (loss of function) in,Assessed
1571,Knobloch syndrome,PAK2,p21 (RAC1) activated kinase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1571,Knobloch syndrome,COL18A1,collagen type XVIII alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
141007,Orofaciodigital syndrome type 9,TBC1D32,TBC1 domain family member 32,Disease-causing germline mutation(s) (loss of function) in,Assessed
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,AP1S2,adaptor related protein complex 1 subunit sigma 2,Disease-causing germline mutation(s) in,Assessed
1497,X-linked complicated corpus callosum dysgenesis,L1CAM,L1 cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
140436,Familial intraosseous vascular malformation,ELMO2,engulfment and cell motility 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1493,Vici syndrome,EPG5,ectopic P-granules 5 autophagy tethering factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
1509,Coxopodopatellar syndrome,TBX4,T-box transcription factor 4,Disease-causing germline mutation(s) in,Assessed
1507,Autosomal recessive Robinow syndrome,ROR2,receptor tyrosine kinase like orphan receptor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1507,Autosomal recessive Robinow syndrome,NXN,nucleoredoxin,Disease-causing germline mutation(s) (loss of function) in,Assessed
1517,Cantú syndrome,ABCC9,ATP binding cassette subfamily C member 9,Disease-causing germline mutation(s) in,Assessed
1517,Cantú syndrome,KCNJ8,potassium inwardly rectifying channel subfamily J member 8,Disease-causing germline mutation(s) in,Assessed
1519,SPECC1L-related hypertelorism syndrome,SPECC1L,sperm antigen with calponin homology and coiled-coil domains 1 like,Disease-causing germline mutation(s) in,Assessed
1520,Craniofrontonasal dysplasia,EFNB1,ephrin B1,Disease-causing germline mutation(s) in,Assessed
1513,Craniodiaphyseal dysplasia,SOST,sclerostin,Disease-causing germline mutation(s) in,Assessed
1513,Craniodiaphyseal dysplasia,SP7,Sp7 transcription factor,Disease-causing germline mutation(s) in,Assessed
140481,Autosomal dominant slowed nerve conduction velocity,ARHGEF10,Rho guanine nucleotide exchange factor 10,Disease-causing germline mutation(s) in,Assessed
1515,Cranioectodermal dysplasia,IFT122,intraflagellar transport 122,Disease-causing germline mutation(s) in,Assessed
1515,Cranioectodermal dysplasia,WDR35,WD repeat domain 35,Disease-causing germline mutation(s) in,Assessed
1515,Cranioectodermal dysplasia,IFT43,intraflagellar transport 43,Disease-causing germline mutation(s) in,Assessed
1515,Cranioectodermal dysplasia,WDR19,WD repeat domain 19,Disease-causing germline mutation(s) in,Assessed
1515,Cranioectodermal dysplasia,IFT52,intraflagellar transport 52,Disease-causing germline mutation(s) in,Assessed
1529,Craniofacial-deafness-hand syndrome,PAX3,paired box 3,Disease-causing germline mutation(s) in,Assessed
1522,Craniometaphyseal dysplasia,ANKH,ANKH inorganic pyrophosphate transport regulator,Disease-causing germline mutation(s) (gain of function) in,Assessed
1522,Craniometaphyseal dysplasia,GJA1,gap junction protein alpha 1,Disease-causing germline mutation(s) in,Assessed
1525,Cranio-osteoarthropathy,HPGD,15-hydroxyprostaglandin dehydrogenase,Disease-causing germline mutation(s) in,Assessed
1824,Lowry-Wood syndrome,RNU4ATAC,"RNA, U4atac small nuclear",Disease-causing germline mutation(s) in,Assessed
1955,Spinocerebellar ataxia type 34,ELOVL4,ELOVL fatty acid elongase 4,Disease-causing germline mutation(s) in,Assessed
2209,Maternal phenylketonuria syndrome,PAH,phenylalanine hydroxylase,Disease-causing germline mutation(s) in,Assessed
1896,EEC syndrome,TP63,tumor protein p63,Disease-causing germline mutation(s) in,Assessed
1897,EEM syndrome,CDH3,cadherin 3,Disease-causing germline mutation(s) in,Assessed
1807,Focal facial dermal dysplasia type III,TWIST2,twist family bHLH transcription factor 2,Disease-causing germline mutation(s) in,Assessed
1873,Jalili syndrome,CNNM4,cyclin and CBS domain divalent metal cation transport mediator 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
1879,Melorheostosis with osteopoikilosis,LEMD3,LEM domain containing 3,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,RPGR,retinitis pigmentosa GTPase regulator,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CFAP410,cilia and flagella associated protein 410,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,PITPNM3,PITPNM family member 3,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,OPN1MW,"opsin 1, medium wave sensitive",Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CRX,cone-rod homeobox,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,NMNAT1,nicotinamide nucleotide adenylyltransferase 1,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CFAP418,cilia and flagella associated protein 418,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CDHR1,cadherin related family member 1,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,MFSD8,major facilitator superfamily domain containing 8,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,ABCA4,ATP binding cassette subfamily A member 4,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,RIMS1,regulating synaptic membrane exocytosis 1,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,RPGRIP1,RPGR interacting protein 1,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CACNA1F,calcium voltage-gated channel subunit alpha1 F,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CNGA3,cyclic nucleotide gated channel subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,AIPL1,AIP like 1 HSP90 co-chaperone,Candidate gene tested in,Not yet assessed
1872,Cone rod dystrophy,GUCA1A,guanylate cyclase activator 1A,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,GUCY2D,"guanylate cyclase 2D, retinal",Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,OPN1LW,"opsin 1, long wave sensitive",Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,RAX2,retina and anterior neural fold homeobox 2,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,SEMA4A,semaphorin 4A,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,PROM1,prominin 1,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,CACNA2D4,calcium voltage-gated channel auxiliary subunit alpha2delta 4,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,ADAM9,ADAM metallopeptidase domain 9,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,UNC119,unc-119 lipid binding chaperone,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,RAB28,"RAB28, member RAS oncogene family",Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,POC1B,POC1 centriolar protein B,Disease-causing germline mutation(s) (loss of function) in,Assessed
1872,Cone rod dystrophy,DRAM2,DNA damage regulated autophagy modulator 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1872,Cone rod dystrophy,TTLL5,tubulin tyrosine ligase like 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
1872,Cone rod dystrophy,TLCD3B,TLC domain containing 3B,Disease-causing germline mutation(s) (loss of function) in,Assessed
1872,Cone rod dystrophy,UBAP1L,ubiquitin associated protein 1 like,Disease-causing germline mutation(s) in,Assessed
1872,Cone rod dystrophy,ATF6,activating transcription factor 6,Disease-causing germline mutation(s) in,Assessed
1871,Progressive cone dystrophy,PDE6C,phosphodiesterase 6C,Disease-causing germline mutation(s) in,Assessed
1871,Progressive cone dystrophy,GNAT2,G protein subunit alpha transducin 2,Disease-causing germline mutation(s) in,Assessed
1871,Progressive cone dystrophy,CNGB3,cyclic nucleotide gated channel subunit beta 3,Disease-causing germline mutation(s) in,Assessed
1871,Progressive cone dystrophy,GUCA1A,guanylate cyclase activator 1A,Disease-causing germline mutation(s) in,Assessed
1860,Thanatophoric dysplasia type 1,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
1865,"Dyssegmental dysplasia, Silverman-Handmaker type",HSPG2,heparan sulfate proteoglycan 2,Disease-causing germline mutation(s) in,Assessed
1830,Schimke immuno-osseous dysplasia,SMARCAL1,SNF2 related chromatin remodeling annealing helicase 1,Disease-causing germline mutation(s) in,Assessed
1802,Ghosal hematodiaphyseal dysplasia,TBXAS1,thromboxane A synthase 1,Disease-causing germline mutation(s) in,Assessed
2128,Isolated hemihyperplasia,IGF2,insulin like growth factor 2,Disease-causing germline mutation(s) in,Assessed
2128,Isolated hemihyperplasia,H19,H19 imprinted maternally expressed transcript,Disease-causing germline mutation(s) in,Assessed
2128,Isolated hemihyperplasia,KCNQ1OT1,KCNQ1 opposite strand/antisense transcript 1,Disease-causing germline mutation(s) in,Assessed
2136,Hennekam syndrome,CCBE1,collagen and calcium binding EGF domains 1,Disease-causing germline mutation(s) in,Assessed
2136,Hennekam syndrome,FAT4,FAT atypical cadherin 4,Disease-causing germline mutation(s) in,Assessed
2136,Hennekam syndrome,ADAMTS3,ADAM metallopeptidase with thrombospondin type 1 motif 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
2138,"46,XX ovotesticular difference of sex development",SOX9,SRY-box transcription factor 9,Disease-causing germline mutation(s) in,Assessed
2138,"46,XX ovotesticular difference of sex development",SRY,sex determining region Y,Disease-causing germline mutation(s) in,Assessed
2138,"46,XX ovotesticular difference of sex development",NR5A1,nuclear receptor subfamily 5 group A member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2143,Donnai-Barrow syndrome,LRP2,LDL receptor related protein 2,Disease-causing germline mutation(s) in,Assessed
2148,Lissencephaly type 1 due to doublecortin gene mutation,DCX,doublecortin,Disease-causing germline mutation(s) in,Assessed
2108,Hallermann-Streiff syndrome,CHD6,chromodomain helicase DNA binding protein 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
2114,"Hip dysplasia, Beukes type",UFSP2,UFM1 specific peptidase 2,Disease-causing germline mutation(s) in,Assessed
2117,Hartsfield syndrome,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
376,Gordon syndrome,PIEZO2,piezo type mechanosensitive ion channel component 2,Disease-causing germline mutation(s) in,Assessed
2092,Focal dermal hypoplasia,PORCN,porcupine O-acyltransferase,Disease-causing germline mutation(s) in,Assessed
2098,"Acromesomelic dysplasia, Grebe type",BMPR1B,bone morphogenetic protein receptor type 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
2098,"Acromesomelic dysplasia, Grebe type",GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
380,Greig cephalopolysyndactyly syndrome,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
2095,Gorlin-Chaudhry-Moss syndrome,SLC25A24,solute carrier family 25 member 24,Disease-causing germline mutation(s) in,Assessed
157846,Neuroferritinopathy,FTL,ferritin light chain,Disease-causing germline mutation(s) in,Assessed
2067,GAPO syndrome,ANTXR1,ANTXR cell adhesion molecule 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2065,Galloway-Mowat syndrome,OSGEP,O-sialoglycoprotein endopeptidase,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,TP53RK,TP53 regulating kinase,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,WDR73,WD repeat domain 73,Disease-causing germline mutation(s) (loss of function) in,Assessed
2065,Galloway-Mowat syndrome,NUP107,nucleoporin 107,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,TPRKB,TP53RK binding protein,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,LAGE3,L antigen family member 3,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,WDR4,WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,GON7,GON7 subunit of KEOPS complex,Disease-causing germline mutation(s) in,Assessed
2065,Galloway-Mowat syndrome,NUP133,nucleoporin 133,Disease-causing germline mutation(s) (loss of function) in,Assessed
2065,Galloway-Mowat syndrome,YRDC,yrdC N6-threonylcarbamoyltransferase domain containing,Disease-causing germline mutation(s) in,Assessed
157941,Huntington disease-like 1,PRNP,prion protein (Kanno blood group),Disease-causing germline mutation(s) in,Assessed
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,GBA1,glucosylceramidase beta 1,Disease-causing germline mutation(s) in,Assessed
157954,ANE syndrome,RBM28,RNA binding motif protein 28,Disease-causing germline mutation(s) (loss of function) in,Assessed
157962,"Oculoauricular syndrome, Schorderet type",HMX1,H6 family homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2078,Geroderma osteodysplastica,GORAB,"golgin, RAB6 interacting",Disease-causing germline mutation(s) in,Assessed
2078,Geroderma osteodysplastica,PYCR1,pyrroline-5-carboxylate reductase 1,Disease-causing germline mutation(s) in,Assessed
157949,Combined immunodeficiency with granulomatosis,INO80,INO80 complex ATPase subunit,Disease-causing germline mutation(s) in,Assessed
157949,Combined immunodeficiency with granulomatosis,RAG1,recombination activating 1,Disease-causing germline mutation(s) in,Assessed
157949,Combined immunodeficiency with granulomatosis,RAG2,recombination activating 2,Disease-causing germline mutation(s) in,Assessed
157973,Congenital muscular dystrophy due to LMNA mutation,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,FBN1,fibrillin 1,Candidate gene tested in,Not yet assessed
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,SLC39A13,solute carrier family 39 member 13,Disease-causing germline mutation(s) in,Assessed
1826,Frontometaphyseal dysplasia,MAP3K7,mitogen-activated protein kinase kinase kinase 7,Disease-causing germline mutation(s) in,Assessed
1826,Frontometaphyseal dysplasia,FLNA,filamin A,Disease-causing germline mutation(s) (gain of function) in,Assessed
2050,Cole-Carpenter syndrome,P4HB,prolyl 4-hydroxylase subunit beta,Disease-causing germline mutation(s) in,Assessed
2050,Cole-Carpenter syndrome,SEC24D,"SEC24 homolog D, COPII component",Disease-causing germline mutation(s) in,Assessed
2050,Cole-Carpenter syndrome,CRTAP,cartilage associated protein,Disease-causing germline mutation(s) in,Assessed
2059,Fryns syndrome,PIGN,phosphatidylinositol glycan anchor biosynthesis class N,Disease-causing germline mutation(s) in,Assessed
2026,Gingival fibromatosis-hypertrichosis syndrome,ABCA5,ATP binding cassette subfamily A member 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
2028,Juvenile hyaline fibromatosis,ANTXR2,ANTXR cell adhesion molecule 2,Disease-causing germline mutation(s) in,Assessed
2021,Fibrochondrogenesis,COL11A1,collagen type XI alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
2021,Fibrochondrogenesis,COL11A2,collagen type XI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
2024,Hereditary gingival fibromatosis,GINGF2,"gingival fibromatosis, hereditary, 2",Candidate gene tested in,Not yet assessed
2024,Hereditary gingival fibromatosis,SOS1,SOS Ras/Rac guanine nucleotide exchange factor 1,Disease-causing germline mutation(s) in,Assessed
2024,Hereditary gingival fibromatosis,REST,RE1 silencing transcription factor,Disease-causing germline mutation(s) in,Assessed
2044,Floating-Harbor syndrome,SRCAP,Snf2 related CREBBP activator protein,Disease-causing germline mutation(s) in,Assessed
2036,Scalp-ear-nipple syndrome,KCTD1,potassium channel tetramerization domain containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
158769,Plaque-form urticaria pigmentosa,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
158766,Typical urticaria pigmentosa,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
158687,Lethal acantholytic erosive disorder,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
158687,Lethal acantholytic erosive disorder,JUP,junction plakoglobin,Disease-causing germline mutation(s) in,Assessed
158684,Epidermolysis bullosa simplex with pyloric atresia,PLEC,plectin,Disease-causing germline mutation(s) in,Assessed
158684,Epidermolysis bullosa simplex with pyloric atresia,ITGB4,integrin subunit beta 4,Disease-causing germline mutation(s) in,Assessed
158681,Epidermolysis bullosa simplex with circinate migratory erythema,KRT5,keratin 5,Disease-causing germline mutation(s) in,Assessed
158676,"Localized dystrophic epidermolysis bullosa, nails only",COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
158673,"Localized dystrophic epidermolysis bullosa, acral form",COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
158668,Ectodermal dysplasia-skin fragility syndrome,PKP1,plakophilin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
158778,Isolated bone marrow mastocytosis,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
158775,Smoldering systemic mastocytosis,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
158772,Nodular urticaria pigmentosa,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
1986,Gollop-Wolfgang complex,BHLHA9,basic helix-loop-helix family member a9,Role in the phenotype of,Assessed
1980,Bilateral striopallidodentate calcinosis,NAA60,"N-alpha-acetyltransferase 60, NatF catalytic subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
1980,Bilateral striopallidodentate calcinosis,CMPK2,cytidine/uridine monophosphate kinase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1980,Bilateral striopallidodentate calcinosis,JAM2,junctional adhesion molecule 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1980,Bilateral striopallidodentate calcinosis,MYORG,myogenesis regulating glycosidase,Disease-causing germline mutation(s) in,Assessed
1980,Bilateral striopallidodentate calcinosis,PDGFRB,platelet derived growth factor receptor beta,Disease-causing germline mutation(s) in,Assessed
1980,Bilateral striopallidodentate calcinosis,PDGFB,platelet derived growth factor subunit B,Disease-causing germline mutation(s) (loss of function) in,Assessed
1980,Bilateral striopallidodentate calcinosis,SLC20A2,solute carrier family 20 member 2,Disease-causing germline mutation(s) in,Assessed
1980,Bilateral striopallidodentate calcinosis,XPR1,xenotropic and polytropic retrovirus receptor 1,Disease-causing germline mutation(s) in,Assessed
1997,Blepharo-cheilo-odontic syndrome,CTNND1,catenin delta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
1997,Blepharo-cheilo-odontic syndrome,CDH1,cadherin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2348,"Familial partial lipodystrophy, Dunnigan type",LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
247768,Müllerian aplasia and hyperandrogenism,WNT4,Wnt family member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
2353,Schilbach-Rott syndrome,PTCH1,patched 1,Role in the phenotype of,Assessed
247790,FTH1-related iron overload,FTH1,ferritin heavy chain 1,Disease-causing germline mutation(s) in,Assessed
247798,MUTYH-related polyposis,MUTYH,mutY DNA glycosylase,Disease-causing germline mutation(s) in,Assessed
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,SLC16A12,solute carrier family 16 member 12,Disease-causing germline mutation(s) in,Assessed
247815,Autosomal recessive ataxia due to PEX10 deficiency,PEX10,peroxisomal biogenesis factor 10,Disease-causing germline mutation(s) in,Assessed
2363,Lacrimoauriculodentodigital syndrome,FGF10,fibroblast growth factor 10,Disease-causing germline mutation(s) in,Assessed
2363,Lacrimoauriculodentodigital syndrome,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
2363,Lacrimoauriculodentodigital syndrome,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) in,Assessed
247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,TREX1,three prime repair exonuclease 1,Disease-causing germline mutation(s) in,Assessed
2340,Keratosis follicularis spinulosa decalvans,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) in,Assessed
2340,Keratosis follicularis spinulosa decalvans,SAT1,spermidine/spermine N1-acetyltransferase 1,Candidate gene tested in,Not yet assessed
2340,Keratosis follicularis spinulosa decalvans,LRP1,LDL receptor related protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
247685,Odontohypophosphatasia,ALPL,"alkaline phosphatase, biomineralization associated",Disease-causing germline mutation(s) (loss of function) in,Assessed
247709,Multiple endocrine neoplasia type 2B,RET,ret proto-oncogene,Disease-causing germline mutation(s) in,Assessed
2342,Haim-Munk syndrome,CTSC,cathepsin C,Disease-causing germline mutation(s) in,Assessed
247698,Multiple endocrine neoplasia type 2A,RET,ret proto-oncogene,Disease-causing germline mutation(s) in,Assessed
485,Kniest dysplasia,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
247585,Citrullinemia type II,SLC25A13,solute carrier family 25 member 13,Disease-causing germline mutation(s) in,Assessed
247598,Neonatal intrahepatic cholestasis due to citrin deficiency,SLC25A13,solute carrier family 25 member 13,Disease-causing germline mutation(s) in,Assessed
2332,KBG syndrome,ANKRD11,ankyrin repeat domain 11,Disease-causing germline mutation(s) in,Assessed
247604,Juvenile primary lateral sclerosis,ALS2,alsin Rho guanine nucleotide exchange factor ALS2,Disease-causing germline mutation(s) in,Assessed
247604,Juvenile primary lateral sclerosis,ERLIN2,ER lipid raft associated 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
247623,Perinatal lethal hypophosphatasia,ALPL,"alkaline phosphatase, biomineralization associated",Disease-causing germline mutation(s) (loss of function) in,Assessed
247638,Prenatal benign hypophosphatasia,ALPL,"alkaline phosphatase, biomineralization associated",Disease-causing germline mutation(s) (loss of function) in,Assessed
2337,"Diffuse palmoplantar keratoderma, Bothnian type",AQP5,aquaporin 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
247651,Infantile hypophosphatasia,ALPL,"alkaline phosphatase, biomineralization associated",Disease-causing germline mutation(s) (loss of function) in,Assessed
247667,Childhood-onset hypophosphatasia,ALPL,"alkaline phosphatase, biomineralization associated",Disease-causing germline mutation(s) (loss of function) in,Assessed
247676,Adult hypophosphatasia,ALPL,"alkaline phosphatase, biomineralization associated",Disease-causing germline mutation(s) (loss of function) in,Assessed
494,Keratoderma hereditarium mutilans,GJB2,gap junction protein beta 2,Disease-causing germline mutation(s) in,Assessed
2322,Kabuki syndrome,KMT2D,lysine methyltransferase 2D,Disease-causing germline mutation(s) in,Assessed
2322,Kabuki syndrome,KDM6A,lysine demethylase 6A,Disease-causing germline mutation(s) in,Assessed
247378,Autosomal recessive secondary polycythemia not associated with VHL gene,BPGM,bisphosphoglycerate mutase,Disease-causing germline mutation(s) (loss of function) in,Assessed
247511,Autosomal dominant secondary polycythemia,EPO,erythropoietin,Disease-causing germline mutation(s) (gain of function) in,Assessed
247511,Autosomal dominant secondary polycythemia,EGLN1,egl-9 family hypoxia inducible factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
247511,Autosomal dominant secondary polycythemia,EPAS1,endothelial PAS domain protein 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
247511,Autosomal dominant secondary polycythemia,HBA1,hemoglobin subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
247511,Autosomal dominant secondary polycythemia,HBA2,hemoglobin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
247511,Autosomal dominant secondary polycythemia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
2323,Sanjad-Sakati syndrome,TBCE,tubulin folding cofactor E,Disease-causing germline mutation(s) in,Assessed
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,RPGR,retinitis pigmentosa GTPase regulator,Disease-causing germline mutation(s) in,Assessed
247546,Acute neonatal citrullinemia type I,ASS1,argininosuccinate synthase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
247573,Late-onset citrullinemia type I,ASS1,argininosuccinate synthase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2407,Laryngo-onycho-cutaneous syndrome,LAMA3,laminin subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
2412,Dislocation of the hip-dysmorphism syndrome,TRIM33,tripartite motif containing 33,Disease-causing germline mutation(s) in,Assessed
248408,Familial hypodysfibrinogenemia,FGA,fibrinogen alpha chain,Disease-causing germline mutation(s) in,Assessed
248408,Familial hypodysfibrinogenemia,FGB,fibrinogen beta chain,Disease-causing germline mutation(s) in,Assessed
248408,Familial hypodysfibrinogenemia,FGG,fibrinogen gamma chain,Disease-causing germline mutation(s) in,Assessed
2396,Encephalocraniocutaneous lipomatosis,FGFR1,fibroblast growth factor receptor 1,Disease-causing somatic mutation(s) in,Assessed
2396,Encephalocraniocutaneous lipomatosis,KRAS,"KRAS proto-oncogene, GTPase",Candidate gene tested in,Not yet assessed
248340,Isolated delta-storage pool disease,FLI1,"Fli-1 proto-oncogene, ETS transcription factor",Disease-causing germline mutation(s) in,Assessed
2388,Choreoacanthocytosis,VPS13A,vacuolar protein sorting 13 homolog A,Disease-causing germline mutation(s) in,Assessed
248111,Juvenile Huntington disease,HTT,huntingtin,Disease-causing germline mutation(s) in,Assessed
2387,Leukonychia totalis,PLCD1,phospholipase C delta 1,Disease-causing germline mutation(s) in,Assessed
2379,Early-onset parkinsonism-intellectual disability syndrome,RAB39B,"RAB39B, member RAS oncogene family",Disease-causing germline mutation(s) (loss of function) in,Assessed
247834,Occult macular dystrophy,RP1L1,RP1 like 1,Disease-causing germline mutation(s) in,Assessed
247820,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,NECTIN4,nectin cell adhesion molecule 4,Disease-causing germline mutation(s) in,Assessed
2378,Laurin-Sandrow syndrome,LMBR1,limb development membrane protein 1,Disease-causing germline mutation(s) in,Assessed
247868,NLRP12-associated hereditary periodic fever syndrome,NLRP12,NLR family pyrin domain containing 12,Disease-causing germline mutation(s) in,Assessed
2451,Mucocutaneous venous malformations,TEK,TEK receptor tyrosine kinase,Disease-causing germline mutation(s) (gain of function) in,Assessed
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,SLC34A1,solute carrier family 34 member 1,Disease-causing germline mutation(s) in,Assessed
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,NHERF1,NHERF family PDZ scaffold protein 1,Disease-causing germline mutation(s) in,Assessed
244283,Biliary atresia with splenic malformation syndrome,CFC1,"cryptic, EGF-CFC family member 1",Candidate gene tested in,Not yet assessed
2440,Isolated split hand-split foot malformation,DLX6,distal-less homeobox 6,Disease-causing germline mutation(s) in,Assessed
2440,Isolated split hand-split foot malformation,EPS15L1,epidermal growth factor receptor pathway substrate 15 like 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2440,Isolated split hand-split foot malformation,TP63,tumor protein p63,Disease-causing germline mutation(s) in,Assessed
2440,Isolated split hand-split foot malformation,SEM1,SEM1 26S proteasome subunit,Candidate gene tested in,Not yet assessed
2440,Isolated split hand-split foot malformation,WNT10B,Wnt family member 10B,Disease-causing germline mutation(s) in,Assessed
2440,Isolated split hand-split foot malformation,DLX5,distal-less homeobox 5,Disease-causing germline mutation(s) in,Assessed
2440,Isolated split hand-split foot malformation,BTRC,beta-transducin repeat containing E3 ubiquitin protein ligase,Candidate gene tested in,Not yet assessed
2440,Isolated split hand-split foot malformation,FBXW4,F-box and WD repeat domain containing 4,Role in the phenotype of,Assessed
244310,RFT1-CDG,RFT1,RFT1 glycolipid translocator homolog,Disease-causing germline mutation(s) in,Assessed
244242,HELLP syndrome,CD46,CD46 molecule,Candidate gene tested in,Not yet assessed
244242,HELLP syndrome,CFH,complement factor H,Candidate gene tested in,Not yet assessed
244242,HELLP syndrome,CFI,complement factor I,Candidate gene tested in,Not yet assessed
244242,HELLP syndrome,HELLPAR,HELLP associated long non-coding RNA,Major susceptibility factor in,Assessed
296,Ollier disease,PTH1R,parathyroid hormone 1 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
296,Ollier disease,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Disease-causing somatic mutation(s) in,Assessed
296,Ollier disease,IDH1,isocitrate dehydrogenase (NADP(+)) 1,Disease-causing somatic mutation(s) in,Assessed
244275,De novo thrombotic microangiopathy after kidney transplantation,CFI,complement factor I,Biomarker tested in,Assessed
244275,De novo thrombotic microangiopathy after kidney transplantation,CFH,complement factor H,Biomarker tested in,Assessed
2438,Hand-foot-genital syndrome,HOXA13,homeobox A13,Disease-causing germline mutation(s) in,Assessed
243343,Dimethylglycine dehydrogenase deficiency,DMGDH,dimethylglycine dehydrogenase,Disease-causing germline mutation(s) in,Assessed
243367,Acute fatty liver of pregnancy,HADHA,hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,Disease-causing germline mutation(s) in,Assessed
247353,Generalized pustular psoriasis,IL36RN,interleukin 36 receptor antagonist,Disease-causing germline mutation(s) (loss of function) in,Assessed
247353,Generalized pustular psoriasis,AP1S3,adaptor related protein complex 1 subunit sigma 3,Disease-causing germline mutation(s) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PIGV,phosphatidylinositol glycan anchor biosynthesis class V,Disease-causing germline mutation(s) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PIGL,phosphatidylinositol glycan anchor biosynthesis class L,Disease-causing germline mutation(s) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PIGO,phosphatidylinositol glycan anchor biosynthesis class O,Disease-causing germline mutation(s) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PGAP2,post-GPI attachment to proteins 2,Disease-causing germline mutation(s) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PGAP3,post-GPI attachment to proteins phospholipase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PIGW,phosphatidylinositol glycan anchor biosynthesis class W,Disease-causing germline mutation(s) in,Assessed
247262,Hyperphosphatasia-intellectual disability syndrome,PIGY,phosphatidylinositol glycan anchor biosynthesis class Y,Disease-causing germline mutation(s) (loss of function) in,Assessed
2484,Melnick-Needles syndrome,FLNA,filamin A,Disease-causing germline mutation(s) (gain of function) in,Assessed
247198,Progressive cerebello-cerebral atrophy,SEPSECS,Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,Disease-causing germline mutation(s) in,Assessed
247198,Progressive cerebello-cerebral atrophy,VPS53,VPS53 subunit of GARP complex,Disease-causing germline mutation(s) in,Assessed
2477,Isolated megalencephaly,TBC1D7,TBC1 domain family member 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
2473,McKusick-Kaufman syndrome,MKKS,MKKS centrosomal shuttling protein,Disease-causing germline mutation(s) in,Assessed
2470,Matthew-Wood syndrome,STRA6,signaling receptor and transporter of retinol STRA6,Disease-causing germline mutation(s) in,Assessed
2470,Matthew-Wood syndrome,WNT7B,Wnt family member 7B,Disease-causing germline mutation(s) in,Assessed
561,Marshall-Smith syndrome,NFIX,nuclear factor I X,Disease-causing germline mutation(s) in,Assessed
559,Marinesco-Sjögren syndrome,SIL1,SIL1 nucleotide exchange factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
2462,Shprintzen-Goldberg syndrome,SKI,SKI proto-oncogene,Disease-causing germline mutation(s) in,Assessed
2462,Shprintzen-Goldberg syndrome,FBN1,fibrillin 1,Candidate gene tested in,Not yet assessed
2461,Marden-Walker syndrome,PIEZO2,piezo type mechanosensitive ion channel component 2,Disease-causing germline mutation(s) in,Assessed
251630,Anaplastic oligodendroglioma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251630,Anaplastic oligodendroglioma,POT1,protection of telomeres 1,Major susceptibility factor in,Assessed
251636,Ependymoma,ZFTA,zinc finger translocation associated,Part of a fusion gene in,Assessed
2176,Infantile systemic hyalinosis,ANTXR2,ANTXR cell adhesion molecule 2,Disease-causing germline mutation(s) in,Assessed
251656,Oligoastrocytoma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251663,Anaplastic oligoastrocytoma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251671,Angiocentric glioma,MYB,"MYB proto-oncogene, transcription factor",Part of a fusion gene in,Assessed
251671,Angiocentric glioma,QKI,"QKI, KH domain containing RNA binding",Part of a fusion gene in,Assessed
2189,Hydrolethalus,HYLS1,HYLS1 centriolar and ciliogenesis associated,Disease-causing germline mutation(s) in,Assessed
2189,Hydrolethalus,KIF7,kinesin family member 7,Disease-causing germline mutation(s) in,Assessed
312,Autosomal dominant epidermolytic ichthyosis,KRT1,keratin 1,Disease-causing germline mutation(s) in,Assessed
312,Autosomal dominant epidermolytic ichthyosis,KRT10,keratin 10,Disease-causing germline mutation(s) in,Assessed
2196,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,CLDN19,claudin 19,Disease-causing germline mutation(s) in,Assessed
251576,Gliosarcoma,NFKBIA,NFKB inhibitor alpha,Biomarker tested in,Assessed
251576,Gliosarcoma,MGMT,O-6-methylguanine-DNA methyltransferase,Biomarker tested in,Assessed
251576,Gliosarcoma,EGFR,epidermal growth factor receptor,Part of a fusion gene in,Assessed
251576,Gliosarcoma,FGFR1,fibroblast growth factor receptor 1,Part of a fusion gene in,Assessed
251576,Gliosarcoma,FGFR3,fibroblast growth factor receptor 3,Part of a fusion gene in,Assessed
251576,Gliosarcoma,TP53,tumor protein p53,Biomarker tested in,Assessed
251576,Gliosarcoma,TACC3,transforming acidic coiled-coil containing protein 3,Part of a fusion gene in,Assessed
251576,Gliosarcoma,TACC1,transforming acidic coiled-coil containing protein 1,Part of a fusion gene in,Assessed
251576,Gliosarcoma,PPARG,peroxisome proliferator activated receptor gamma,Biomarker tested in,Assessed
251576,Gliosarcoma,LZTR1,leucine zipper like post translational regulator 1,Disease-causing somatic mutation(s) in,Assessed
251576,Gliosarcoma,SEPTIN14,septin 14,Part of a fusion gene in,Assessed
251576,Gliosarcoma,IDH1,isocitrate dehydrogenase (NADP(+)) 1,Biomarker tested in,Assessed
251579,Giant cell glioblastoma,ROS1,"ROS proto-oncogene 1, receptor tyrosine kinase",Part of a fusion gene in,Assessed
251579,Giant cell glioblastoma,PPARG,peroxisome proliferator activated receptor gamma,Biomarker tested in,Assessed
251579,Giant cell glioblastoma,NFKBIA,NFKB inhibitor alpha,Biomarker tested in,Assessed
251579,Giant cell glioblastoma,MGMT,O-6-methylguanine-DNA methyltransferase,Biomarker tested in,Assessed
251579,Giant cell glioblastoma,EGFR,epidermal growth factor receptor,Part of a fusion gene in,Assessed
251579,Giant cell glioblastoma,FGFR1,fibroblast growth factor receptor 1,Part of a fusion gene in,Assessed
251579,Giant cell glioblastoma,FGFR3,fibroblast growth factor receptor 3,Part of a fusion gene in,Assessed
251579,Giant cell glioblastoma,TP53,tumor protein p53,Biomarker tested in,Assessed
251579,Giant cell glioblastoma,TACC3,transforming acidic coiled-coil containing protein 3,Part of a fusion gene in,Assessed
251579,Giant cell glioblastoma,TACC1,transforming acidic coiled-coil containing protein 1,Part of a fusion gene in,Assessed
251579,Giant cell glioblastoma,IDH1,isocitrate dehydrogenase (NADP(+)) 1,Biomarker tested in,Assessed
251579,Giant cell glioblastoma,LZTR1,leucine zipper like post translational regulator 1,Disease-causing somatic mutation(s) in,Assessed
251579,Giant cell glioblastoma,SEPTIN14,septin 14,Part of a fusion gene in,Assessed
251589,Anaplastic astrocytoma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251598,Protoplasmic astrocytoma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251604,Gemistocytic astrocytoma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251601,Fibrillary astrocytoma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251615,Pilomyxoid astrocytoma,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
251615,Pilomyxoid astrocytoma,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Part of a fusion gene in,Assessed
251615,Pilomyxoid astrocytoma,RAF1,"Raf-1 proto-oncogene, serine/threonine kinase",Part of a fusion gene in,Assessed
251615,Pilomyxoid astrocytoma,FGFR1,fibroblast growth factor receptor 1,Disease-causing somatic mutation(s) in,Assessed
251615,Pilomyxoid astrocytoma,SRGAP3,SLIT-ROBO Rho GTPase activating protein 3,Part of a fusion gene in,Assessed
251615,Pilomyxoid astrocytoma,NTRK2,neurotrophic receptor tyrosine kinase 2,Part of a fusion gene in,Assessed
251615,Pilomyxoid astrocytoma,KIAA1549,KIAA1549,Part of a fusion gene in,Assessed
251615,Pilomyxoid astrocytoma,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
251627,Oligodendroglioma,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Biomarker tested in,Assessed
251627,Oligodendroglioma,POT1,protection of telomeres 1,Major susceptibility factor in,Assessed
2169,Methylcobalamin deficiency type cblE,MTRR,5-methyltetrahydrofolate-homocysteine methyltransferase reductase,Disease-causing germline mutation(s) in,Assessed
2228,Hypodontia-dysplasia of nails syndrome,MSX1,msh homeobox 1,Disease-causing germline mutation(s) in,Assessed
2224,Hypertryptophanemia,TDO2,"tryptophan 2,3-dioxygenase",Disease-causing germline mutation(s) in,Assessed
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,GATA3,GATA binding protein 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
251992,Ganglioneuroma,ALK,ALK receptor tyrosine kinase,Major susceptibility factor in,Assessed
2199,Epidermolytic palmoplantar keratoderma,KRT1,keratin 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
2199,Epidermolytic palmoplantar keratoderma,KRT9,keratin 9,Disease-causing germline mutation(s) in,Assessed
2199,Epidermolytic palmoplantar keratoderma,KRT16,keratin 16,Candidate gene tested in,Assessed
251863,Desmoplastic/nodular medulloblastoma,SUFU,SUFU negative regulator of hedgehog signaling,Major susceptibility factor in,Assessed
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,RHBDF2,rhomboid 5 homolog 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
251858,Medulloblastoma with extensive nodularity,SUFU,SUFU negative regulator of hedgehog signaling,Major susceptibility factor in,Assessed
251877,Ganglioneuroblastoma,ALK,ALK receptor tyrosine kinase,Major susceptibility factor in,Assessed
2202,Palmoplantar keratoderma-deafness syndrome,GJB2,gap junction protein beta 2,Disease-causing germline mutation(s) in,Assessed
2202,Palmoplantar keratoderma-deafness syndrome,MT-TS1,mitochondrially encoded tRNA-Ser (UCN) 1,Disease-causing germline mutation(s) in,Assessed
251899,Choroid plexus carcinoma,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
251019,2q32q33 deletion syndrome,SATB2,SATB homeobox 2,Role in the phenotype of,Assessed
251028,SATB2-associated syndrome due to a chromosomal rearrangement,SATB2,SATB homeobox 2,Role in the phenotype of,Assessed
672,Pallister-Hall syndrome,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
455,Superficial epidermolytic ichthyosis,KRT2,keratin 2,Disease-causing germline mutation(s) in,Assessed
251061,7q31 microdeletion syndrome,FOXP2,forkhead box P2,Role in the phenotype of,Assessed
251066,8p11.2 deletion syndrome,ANK1,ankyrin 1,Role in the phenotype of,Assessed
251071,8p23.1 microdeletion syndrome,GATA4,GATA binding protein 4,Role in the phenotype of,Assessed
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) in,Assessed
139,CHILD syndrome,NSDHL,NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL,Disease-causing germline mutation(s) in,Assessed
457,Harlequin ichthyosis,ABCA12,ATP binding cassette subfamily A member 12,Disease-causing germline mutation(s) in,Assessed
251056,6q25.2q25.3 microdeletion syndrome,ARID1B,AT-rich interaction domain 1B,Role in the phenotype of,Not yet assessed
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,GCM2,glial cells missing transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,LMOD1,leiomodin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,MYH11,myosin heavy chain 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,ACTG2,"actin gamma 2, smooth muscle",Disease-causing germline mutation(s) in,Assessed
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,MYLK,myosin light chain kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
250984,Autosomal recessive Stickler syndrome,COL9A1,collagen type IX alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
250984,Autosomal recessive Stickler syndrome,COL9A2,collagen type IX alpha 2 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
250984,Autosomal recessive Stickler syndrome,COL9A3,collagen type IX alpha 3 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
250984,Autosomal recessive Stickler syndrome,LOXL3,lysyl oxidase like 3,Disease-causing germline mutation(s) in,Assessed
250977,AICA-ribosiduria,ATIC,5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase,Disease-causing germline mutation(s) in,Assessed
2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,SMCHD1,structural maintenance of chromosomes flexible hinge domain containing 1,Disease-causing germline mutation(s) in,Assessed
250923,Isolated aniridia,PAX6,paired box 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
250923,Isolated aniridia,TRIM44,tripartite motif containing 44,Disease-causing germline mutation(s) (gain of function) in,Assessed
250923,Isolated aniridia,FOXC1,forkhead box C1,Disease-causing germline mutation(s) in,Assessed
250972,Polymicrogyria with optic nerve hypoplasia,TUBA8,tubulin alpha 8,Disease-causing germline mutation(s) in,Assessed
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,GATA6,GATA binding protein 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,BCL11A,BCL11 transcription factor A,Candidate gene tested in,Not yet assessed
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,HBG1,hemoglobin subunit gamma 1,Disease-causing germline mutation(s) in,Assessed
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,HBG2,hemoglobin subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,KLF1,KLF transcription factor 1,Disease-causing germline mutation(s) in,Assessed
251383,CK syndrome,NSDHL,NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL,Disease-causing germline mutation(s) (loss of function) in,Assessed
251370,Sickle cell S-D Punjab disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
251375,Sickle cell S-E disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
251365,Sickle cell S-C disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
2319,Juberg-Hayward syndrome,ESCO2,establishment of sister chromatid cohesion N-acetyltransferase 2,Disease-causing germline mutation(s) in,Assessed
251523,Hyperzincemia and hypercalprotectinemia,PSTPIP1,proline-serine-threonine phosphatase interacting protein 1,Disease-causing germline mutation(s) in,Assessed
2315,Johanson-Blizzard syndrome,UBR1,ubiquitin protein ligase E3 component n-recognin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
251510,"46,XY partial gonadal dysgenesis",DHX37,DEAH-box helicase 37,Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",WT1,WT1 transcription factor,Candidate gene tested in,Not yet assessed
251510,"46,XY partial gonadal dysgenesis",SOX9,SRY-box transcription factor 9,Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",SRY,sex determining region Y,Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",WWOX,WW domain containing oxidoreductase,Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",ZFPM2,"zinc finger protein, FOG family member 2",Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",GATA4,GATA binding protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
251510,"46,XY partial gonadal dysgenesis",NR0B1,nuclear receptor subfamily 0 group B member 1,Role in the phenotype of,Assessed
251510,"46,XY partial gonadal dysgenesis",NR5A1,nuclear receptor subfamily 5 group A member 1,Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",MAP3K1,mitogen-activated protein kinase kinase kinase 1,Disease-causing germline mutation(s) in,Assessed
251510,"46,XY partial gonadal dysgenesis",VAMP7,vesicle associated membrane protein 7,Role in the phenotype of,Assessed
2309,Pachyonychia congenita,KRT16,keratin 16,Disease-causing germline mutation(s) in,Assessed
2309,Pachyonychia congenita,KRT17,keratin 17,Disease-causing germline mutation(s) in,Assessed
2309,Pachyonychia congenita,KRT6A,keratin 6A,Disease-causing germline mutation(s) in,Assessed
2309,Pachyonychia congenita,KRT6B,keratin 6B,Disease-causing germline mutation(s) in,Assessed
251393,Localized junctional epidermolysis bullosa,COL17A1,collagen type XVII alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
251393,Localized junctional epidermolysis bullosa,ITGB4,integrin subunit beta 4,Disease-causing germline mutation(s) in,Assessed
2307,IVIC syndrome,SALL4,spalt like transcription factor 4,Disease-causing germline mutation(s) in,Assessed
251295,Pigmented paravenous retinochoroidal atrophy,CRB1,crumbs cell polarity complex component 1,Disease-causing germline mutation(s) in,Assessed
251290,Parietal foramina with clavicular hypoplasia,MSX2,msh homeobox 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
251287,Benign concentric annular macular dystrophy,IMPG1,interphotoreceptor matrix proteoglycan 1,Disease-causing germline mutation(s) in,Assessed
251282,Autosomal dominant spastic ataxia type 1,VAMP1,vesicle associated membrane protein 1,Disease-causing germline mutation(s) in,Assessed
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,MFRP,membrane frizzled-related protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
251274,Familial hyperaldosteronism type III,KCNJ5,potassium inwardly rectifying channel subfamily J member 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
251262,Familial osteochondritis dissecans,ACAN,aggrecan,Disease-causing germline mutation(s) in,Assessed
251347,Ataxia-telangiectasia-like disorder,MRE11,MRE11 double strand break repair nuclease,Disease-causing germline mutation(s) in,Assessed
2289,Neuronal intranuclear inclusion disease,NOTCH2NLC,notch 2 N-terminal like C,Disease-causing germline mutation(s) in,Assessed
2290,Microvillus inclusion disease,MYO5B,myosin VB,Disease-causing germline mutation(s) (loss of function) in,Assessed
2290,Microvillus inclusion disease,STX3,syntaxin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
254857,Lethal infantile mitochondrial myopathy,MT-TT,mitochondrially encoded tRNA-Thr (ACN),Candidate gene tested in,Not yet assessed
2678,Familial isolated café-au-lait macules,LZTR1,leucine zipper like post translational regulator 1,Disease-causing germline mutation(s) in,Assessed
254864,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,TRMU,tRNA mitochondrial 2-thiouridylase,Disease-causing germline mutation(s) in,Assessed
254864,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,MT-TE,mitochondrially encoded tRNA-Glu (GAA/G),Disease-causing germline mutation(s) in,Assessed
2662,Keipert syndrome,GPC4,glypican 4,Disease-causing germline mutation(s) in,Assessed
1475,Renal coloboma syndrome,PAX2,paired box 2,Disease-causing germline mutation(s) in,Assessed
2670,Pierson syndrome,LAMB2,laminin subunit beta 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
254930,Combined oxidative phosphorylation defect type 7,MTRFR,mitochondrial translation release factor in rescue,Disease-causing germline mutation(s) in,Assessed
254925,Combined oxidative phosphorylation defect type 4,TUFM,"Tu translation elongation factor, mitochondrial",Disease-causing germline mutation(s) in,Assessed
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,VPS33B,VPS33B late endosome and lysosome associated,Disease-causing germline mutation(s) in,Assessed
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,VIPAS39,"VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog",Disease-causing germline mutation(s) in,Assessed
254920,Combined oxidative phosphorylation defect type 2,MRPS16,mitochondrial ribosomal protein S16,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,ATP5MK,ATP synthase membrane subunit k,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,MT-ATP8,mitochondrially encoded ATP synthase membrane subunit 8,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,ATPAF2,ATP synthase mitochondrial F1 complex assembly factor 2,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,ATP5F1E,ATP synthase F1 subunit epsilon,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,ATP5F1A,ATP synthase F1 subunit alpha,Disease-causing germline mutation(s) in,Assessed
254913,Isolated ATP synthase deficiency,ATP5F1D,ATP synthase F1 subunit delta,Disease-causing germline mutation(s) in,Assessed
255182,Pyruvate dehydrogenase E3-binding protein deficiency,PDHX,pyruvate dehydrogenase complex component X,Disease-causing germline mutation(s) in,Assessed
2701,Noonan syndrome-like disorder with loose anagen hair,PPP1CB,protein phosphatase 1 catalytic subunit beta,Disease-causing germline mutation(s) in,Assessed
2701,Noonan syndrome-like disorder with loose anagen hair,SHOC2,SHOC2 leucine rich repeat scaffold protein,Disease-causing germline mutation(s) in,Assessed
255138,Pyruvate dehydrogenase E1-beta deficiency,PDHB,pyruvate dehydrogenase E1 subunit beta,Disease-causing germline mutation(s) in,Assessed
255132,Adult-onset autosomal recessive sideroblastic anemia,GLRX5,glutaredoxin 5,Disease-causing germline mutation(s) in,Assessed
2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,GJB2,gap junction protein beta 2,Disease-causing germline mutation(s) in,Assessed
254886,Autosomal recessive progressive external ophthalmoplegia,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
254886,Autosomal recessive progressive external ophthalmoplegia,TK2,thymidine kinase 2,Disease-causing germline mutation(s) in,Assessed
254886,Autosomal recessive progressive external ophthalmoplegia,TOP3A,DNA topoisomerase III alpha,Disease-causing germline mutation(s) in,Assessed
254886,Autosomal recessive progressive external ophthalmoplegia,RRM1,ribonucleotide reductase catalytic subunit M1,Disease-causing germline mutation(s) in,Assessed
254881,Spinocerebellar ataxia with epilepsy,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
254875,"Mitochondrial DNA depletion syndrome, myopathic form",TK2,thymidine kinase 2,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX10,cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,MT-CO1,mitochondrially encoded cytochrome c oxidase I,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,MT-CO2,mitochondrially encoded cytochrome c oxidase II,Disease-causing germline mutation(s) (loss of function) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,MT-CO3,mitochondrially encoded cytochrome c oxidase III,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX6B1,cytochrome c oxidase subunit 6B1,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX14,cytochrome c oxidase assembly factor COX14,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX16,cytochrome c oxidase assembly factor COX16,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX4I1,cytochrome c oxidase subunit 4I1,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX20,cytochrome c oxidase assembly factor COX20,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COA3,cytochrome c oxidase assembly factor 3,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX8A,cytochrome c oxidase subunit 8A,Disease-causing germline mutation(s) (loss of function) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX6A2,cytochrome c oxidase subunit 6A2,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,PET117,PET117 cytochrome c oxidase chaperone,Disease-causing germline mutation(s) in,Assessed
254905,Isolated cytochrome C oxidase deficiency,COX5A,cytochrome c oxidase subunit 5A,Disease-causing germline mutation(s) (loss of function) in,Assessed
254902,Renal tubulopathy-encephalopathy-liver failure syndrome,BCS1L,BCS1 ubiquinol-cytochrome c reductase complex chaperone,Disease-causing germline mutation(s) in,Assessed
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,PDSS1,decaprenyl diphosphate synthase subunit 1,Disease-causing germline mutation(s) in,Assessed
254892,Autosomal dominant progressive external ophthalmoplegia,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
254892,Autosomal dominant progressive external ophthalmoplegia,POLG2,"DNA polymerase gamma 2, accessory subunit",Disease-causing germline mutation(s) in,Assessed
254892,Autosomal dominant progressive external ophthalmoplegia,SLC25A4,solute carrier family 25 member 4,Disease-causing germline mutation(s) in,Assessed
254892,Autosomal dominant progressive external ophthalmoplegia,TWNK,twinkle mtDNA helicase,Disease-causing germline mutation(s) in,Assessed
254892,Autosomal dominant progressive external ophthalmoplegia,RRM2B,ribonucleotide reductase regulatory TP53 inducible subunit M2B,Disease-causing germline mutation(s) in,Assessed
2712,Oculofaciocardiodental syndrome,BCOR,BCL6 corepressor,Disease-causing germline mutation(s) in,Assessed
2717,Oculotrichoanal syndrome,FREM1,FRAS1 related extracellular matrix 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2704,Urofacial syndrome,HPSE2,heparanase 2 (inactive),Disease-causing germline mutation(s) in,Assessed
2704,Urofacial syndrome,LRIG2,leucine rich repeats and immunoglobulin like domains 2,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ND1,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ND2,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ND3,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ND4,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ND5,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-ND6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-TL1,mitochondrially encoded tRNA-Leu (UUA/G) 1,Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-TK,mitochondrially encoded tRNA-Lys (AAA/G),Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-TW,mitochondrially encoded tRNA-Trp (UGA/G),Disease-causing germline mutation(s) in,Assessed
255210,Mitochondrial DNA-associated Leigh syndrome,MT-TV,mitochondrially encoded tRNA-Val (GUN),Disease-causing germline mutation(s) in,Assessed
255229,Navajo neurohepatopathy,MPV17,mitochondrial inner membrane protein MPV17,Disease-causing germline mutation(s) in,Assessed
2707,"Oculocerebrofacial syndrome, Kaufman type",UBE3B,ubiquitin protein ligase E3B,Disease-causing germline mutation(s) (loss of function) in,Assessed
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",RRM2B,ribonucleotide reductase regulatory TP53 inducible subunit M2B,Disease-causing germline mutation(s) in,Assessed
2710,Oculodentodigital dysplasia,GJA1,gap junction protein alpha 1,Disease-causing germline mutation(s) in,Assessed
2721,Odonto-onycho-dermal dysplasia,WNT10A,Wnt family member 10A,Disease-causing germline mutation(s) in,Assessed
260305,Autosomal recessive sideroblastic anemia,SLC25A38,solute carrier family 25 member 38,Disease-causing germline mutation(s) in,Assessed
260305,Autosomal recessive sideroblastic anemia,HSPA9,heat shock protein family A (Hsp70) member 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
2754,Orofaciodigital syndrome type 6,FAM149B1,family with sequence similarity 149 member B1,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,OFD1,OFD1 centriole and centriolar satellite protein,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,TMEM216,transmembrane protein 216,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,KIF7,kinesin family member 7,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,CPLANE1,ciliogenesis and planar polarity effector complex subunit 1,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,TCTN3,tectonic family member 3,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,PDE6D,phosphodiesterase 6D,Disease-causing germline mutation(s) (loss of function) in,Assessed
2754,Orofaciodigital syndrome type 6,TMEM231,transmembrane protein 231,Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,TOPORS,"TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase",Disease-causing germline mutation(s) in,Assessed
2754,Orofaciodigital syndrome type 6,KIAA0753,KIAA0753,Disease-causing germline mutation(s) in,Assessed
2753,Orofaciodigital syndrome type 4,TCTN3,tectonic family member 3,Disease-causing germline mutation(s) in,Assessed
2751,Orofaciodigital syndrome type 2,NEK1,NIMA related kinase 1,Disease-causing germline mutation(s) in,Assessed
252128,Malignant peripheral nerve sheath tumor with perineurial differentiation,SH3PXD2A,SH3 and PX domains 2A,Part of a fusion gene in,Assessed
252128,Malignant peripheral nerve sheath tumor with perineurial differentiation,HTRA1,HtrA serine peptidase 1,Part of a fusion gene in,Assessed
2750,Orofaciodigital syndrome type 1,OFD1,OFD1 centriole and centriolar satellite protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
661,Congenital central hypoventilation syndrome,LBX1,ladybird homeobox 1,Disease-causing germline mutation(s) in,Assessed
661,Congenital central hypoventilation syndrome,PHOX2B,paired like homeobox 2B,Disease-causing germline mutation(s) in,Assessed
661,Congenital central hypoventilation syndrome,EDN3,endothelin 3,Candidate gene tested in,Not yet assessed
661,Congenital central hypoventilation syndrome,GDNF,glial cell derived neurotrophic factor,Candidate gene tested in,Not yet assessed
661,Congenital central hypoventilation syndrome,MYO1H,myosin IH,Disease-causing germline mutation(s) in,Assessed
661,Congenital central hypoventilation syndrome,BDNF,brain derived neurotrophic factor,Candidate gene tested in,Not yet assessed
254361,Plectin-related limb-girdle muscular dystrophy R17,PLEC,plectin,Disease-causing germline mutation(s) in,Assessed
2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,MAFB,MAF bZIP transcription factor B,Disease-causing germline mutation(s) in,Assessed
2770,Nasu-Hakola disease,TREM2,triggering receptor expressed on myeloid cells 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
2770,Nasu-Hakola disease,TYROBP,transmembrane immune signaling adaptor TYROBP,Disease-causing germline mutation(s) (loss of function) in,Assessed
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,MTPAP,mitochondrial poly(A) polymerase,Disease-causing germline mutation(s) in,Assessed
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,KARS1,lysyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
2762,Progressive osseous heteroplasia,GNAS,GNAS complex locus,Disease-causing germline mutation(s) (loss of function) in,Assessed
252212,Malignant triton tumor,SH3PXD2A,SH3 and PX domains 2A,Part of a fusion gene in,Assessed
252212,Malignant triton tumor,HTRA1,HtrA serine peptidase 1,Part of a fusion gene in,Assessed
2763,Osteocraniostenosis,FAM111A,FAM111 trypsin like peptidase A,Disease-causing germline mutation(s) in,Assessed
252206,Melanoma and neural system tumor syndrome,CDKN2A,cyclin dependent kinase inhibitor 2A,Candidate gene tested in,Not yet assessed
252202,Constitutional mismatch repair deficiency syndrome,PMS2,"PMS1 homolog 2, mismatch repair system component",Disease-causing germline mutation(s) in,Assessed
252202,Constitutional mismatch repair deficiency syndrome,MLH1,mutL homolog 1,Disease-causing germline mutation(s) in,Assessed
252202,Constitutional mismatch repair deficiency syndrome,MSH2,mutS homolog 2,Disease-causing germline mutation(s) in,Assessed
252202,Constitutional mismatch repair deficiency syndrome,MSH6,mutS homolog 6,Disease-causing germline mutation(s) in,Assessed
2792,Otofaciocervical syndrome,EYA1,EYA transcriptional coactivator and phosphatase 1,Disease-causing germline mutation(s) in,Assessed
2792,Otofaciocervical syndrome,PAX1,paired box 1,Disease-causing germline mutation(s) in,Assessed
254525,Temple syndrome due to paternal 14q32.2 microdeletion,MEG3,maternally expressed 3,Role in the phenotype of,Assessed
254525,Temple syndrome due to paternal 14q32.2 microdeletion,DLK1,delta like non-canonical Notch ligand 1,Role in the phenotype of,Assessed
254525,Temple syndrome due to paternal 14q32.2 microdeletion,RTL1,retrotransposon Gag like 1,Role in the phenotype of,Assessed
2796,Pachydermoperiostosis,SLCO2A1,solute carrier organic anion transporter family member 2A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2796,Pachydermoperiostosis,HPGD,15-hydroxyprostaglandin dehydrogenase,Disease-causing germline mutation(s) in,Assessed
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,RTL1,retrotransposon Gag like 1,Role in the phenotype of,Assessed
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,MEG3,maternally expressed 3,Role in the phenotype of,Assessed
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,DLK1,delta like non-canonical Notch ligand 1,Role in the phenotype of,Assessed
2789,Lateral meningocele syndrome,NOTCH3,notch receptor 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
2788,Osteoporosis-pseudoglioma syndrome,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
2791,Otodental syndrome,FGF3,fibroblast growth factor 3,Role in the phenotype of,Assessed
2790,"Endosteal hyperostosis, Worth type",LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) in,Assessed
2783,Autosomal dominant osteopetrosis type 1,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
2780,Osteopathia striata-cranial sclerosis syndrome,AMER1,APC membrane recruitment protein 1,Disease-causing germline mutation(s) in,Assessed
2780,Osteopathia striata-cranial sclerosis syndrome,CTNNB1,catenin beta 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
667,Autosomal recessive malignant osteopetrosis,CLCN7,chloride voltage-gated channel 7,Disease-causing germline mutation(s) in,Assessed
667,Autosomal recessive malignant osteopetrosis,TCIRG1,"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",Disease-causing germline mutation(s) (loss of function) in,Assessed
667,Autosomal recessive malignant osteopetrosis,TNFSF11,TNF superfamily member 11,Disease-causing germline mutation(s) in,Assessed
667,Autosomal recessive malignant osteopetrosis,SNX10,sorting nexin 10,Disease-causing germline mutation(s) in,Assessed
2805,Partial pancreatic agenesis,PTF1A,pancreas associated transcription factor 1a,Disease-causing germline mutation(s) in,Assessed
2805,Partial pancreatic agenesis,PDX1,pancreatic and duodenal homeobox 1,Disease-causing germline mutation(s) in,Assessed
254693,Partial hydatidiform mole,NLRP7,NLR family pyrin domain containing 7,Disease-causing germline mutation(s) in,Assessed
254693,Partial hydatidiform mole,KHDC3L,"KH domain containing 3 like, subcortical maternal complex member",Disease-causing germline mutation(s) in,Assessed
2807,Papilloma of choroid plexus,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
678,Papillon-Lefèvre syndrome,CTSC,cathepsin C,Disease-causing germline mutation(s) (loss of function) in,Assessed
254704,Genetic hyperferritinemia without iron overload,FTL,ferritin light chain,Disease-causing germline mutation(s) in,Assessed
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,DLK1,delta like non-canonical Notch ligand 1,Role in the phenotype of,Assessed
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,MEG3,maternally expressed 3,Role in the phenotype of,Assessed
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,RTL1,retrotransposon Gag like 1,Role in the phenotype of,Assessed
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,ABCB7,ATP binding cassette subfamily B member 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,RTL1,retrotransposon Gag like 1,Role in the phenotype of,Assessed
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,MEG3,maternally expressed 3,Role in the phenotype of,Assessed
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,DLK1,delta like non-canonical Notch ligand 1,Role in the phenotype of,Assessed
254688,Complete hydatidiform mole,NLRP7,NLR family pyrin domain containing 7,Disease-causing germline mutation(s) in,Assessed
254688,Complete hydatidiform mole,KHDC3L,"KH domain containing 3 like, subcortical maternal complex member",Disease-causing germline mutation(s) in,Assessed
254688,Complete hydatidiform mole,MEI1,meiotic double-stranded break formation protein 1,Disease-causing germline mutation(s) in,Assessed
254688,Complete hydatidiform mole,TOP6BL,TOP6B like initiator of meiotic double strand breaks,Disease-causing germline mutation(s) in,Assessed
2498,Syndactyly type 8,FGF16,fibroblast growth factor 16,Disease-causing germline mutation(s) in,Assessed
2499,Metachondromatosis,PTPN11,protein tyrosine phosphatase non-receptor type 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
2500,Acrogeria,COL3A1,collagen type III alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
2501,"Metaphyseal chondrodysplasia, Spahr type",MMP13,matrix metallopeptidase 13,Disease-causing germline mutation(s) (loss of function) in,Assessed
2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,RUNX2,RUNX family transcription factor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
2505,Multiple benign circumferential skin creases on limbs,MAPRE2,microtubule associated protein RP/EB family member 2,Disease-causing germline mutation(s) in,Assessed
2505,Multiple benign circumferential skin creases on limbs,TUBB,tubulin beta class I,Disease-causing germline mutation(s) in,Assessed
2510,Micro syndrome,RAB3GAP1,RAB3 GTPase activating protein catalytic subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2510,Micro syndrome,RAB3GAP2,RAB3 GTPase activating non-catalytic protein subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
2510,Micro syndrome,RAB18,"RAB18, member RAS oncogene family",Disease-causing germline mutation(s) (loss of function) in,Assessed
2510,Micro syndrome,TBC1D20,TBC1 domain family member 20,Disease-causing germline mutation(s) (loss of function) in,Assessed
2508,Corpus callosum agenesis-abnormal genitalia syndrome,ARX,aristaless related homeobox,Disease-causing germline mutation(s) in,Assessed
2514,Autosomal dominant primary microcephaly,DPP6,dipeptidyl peptidase like 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
2514,Autosomal dominant primary microcephaly,LMNB1,lamin B1,Disease-causing germline mutation(s) in,Assessed
2518,Autosomal recessive chorioretinopathy-microcephaly syndrome,PLK4,polo like kinase 4,Disease-causing germline mutation(s) in,Assessed
2518,Autosomal recessive chorioretinopathy-microcephaly syndrome,TUBGCP6,tubulin gamma complex component 6,Disease-causing germline mutation(s) in,Assessed
2518,Autosomal recessive chorioretinopathy-microcephaly syndrome,TUBGCP4,tubulin gamma complex component 4,Disease-causing germline mutation(s) in,Assessed
2524,Pontocerebellar hypoplasia type 2,TSEN15,tRNA splicing endonuclease subunit 15,Disease-causing germline mutation(s) (loss of function) in,Assessed
2524,Pontocerebellar hypoplasia type 2,TSEN54,tRNA splicing endonuclease subunit 54,Disease-causing germline mutation(s) in,Assessed
2524,Pontocerebellar hypoplasia type 2,TSEN34,tRNA splicing endonuclease subunit 34,Disease-causing germline mutation(s) in,Assessed
2524,Pontocerebellar hypoplasia type 2,TSEN2,tRNA splicing endonuclease subunit 2,Disease-causing germline mutation(s) in,Assessed
2524,Pontocerebellar hypoplasia type 2,SEPSECS,Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase,Disease-causing germline mutation(s) in,Assessed
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,KIF11,kinesin family member 11,Disease-causing germline mutation(s) in,Assessed
2554,Ear-patella-short stature syndrome,ORC4,origin recognition complex subunit 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
2554,Ear-patella-short stature syndrome,ORC6,origin recognition complex subunit 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
2554,Ear-patella-short stature syndrome,CDT1,chromatin licensing and DNA replication factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2554,Ear-patella-short stature syndrome,CDC6,cell division cycle 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
2554,Ear-patella-short stature syndrome,ORC1,origin recognition complex subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
2554,Ear-patella-short stature syndrome,GMNN,geminin DNA replication inhibitor,Disease-causing germline mutation(s) (gain of function) in,Assessed
2554,Ear-patella-short stature syndrome,CDC45,cell division cycle 45,Disease-causing germline mutation(s) (loss of function) in,Assessed
2556,Microphthalmia with linear skin defects syndrome,HCCS,holocytochrome c synthase,Disease-causing germline mutation(s) in,Assessed
2556,Microphthalmia with linear skin defects syndrome,COX7B,cytochrome c oxidase subunit 7B,Disease-causing germline mutation(s) in,Assessed
2556,Microphthalmia with linear skin defects syndrome,NDUFB11,NADH:ubiquinone oxidoreductase subunit B11,Disease-causing germline mutation(s) (loss of function) in,Assessed
575,Muckle-Wells syndrome,NLRP3,NLR family pyrin domain containing 3,Disease-causing germline mutation(s) in,Assessed
2573,Moyamoya disease,DIAPH1,diaphanous related formin 1,Disease-causing germline mutation(s) in,Assessed
2573,Moyamoya disease,ACTA2,"actin alpha 2, smooth muscle",Major susceptibility factor in,Assessed
2573,Moyamoya disease,RNF213,ring finger protein 213,Major susceptibility factor in,Assessed
2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,GPKOW,G-patch domain and KOW motifs,Disease-causing germline mutation(s) in,Assessed
261183,15q11.2 microdeletion syndrome,NIPA1,NIPA magnesium transporter 1,Role in the phenotype of,Assessed
261183,15q11.2 microdeletion syndrome,NIPA2,NIPA magnesium transporter 2,Role in the phenotype of,Assessed
261183,15q11.2 microdeletion syndrome,TUBG1,tubulin gamma 1,Role in the phenotype of,Assessed
2585,Ataxia-pancytopenia syndrome,SAMD9L,sterile alpha motif domain containing 9 like,Disease-causing germline mutation(s) in,Assessed
261144,FOXG1 syndrome due to 14q12 microdeletion,FOXG1,forkhead box G1,Role in the phenotype of,Assessed
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) (loss of function) in,Assessed
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,WNT4,Wnt family member 4,Disease-causing germline mutation(s) in,Assessed
2576,Mulibrey nanism,TRIM37,tripartite motif containing 37,Disease-causing germline mutation(s) in,Assessed
261222,Distal 16p11.2 microdeletion syndrome,SH2B1,SH2B adaptor protein 1,Role in the phenotype of,Assessed
1359,Carney complex,PRKAR1A,protein kinase cAMP-dependent type I regulatory subunit alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
1359,Carney complex,PDE11A,phosphodiesterase 11A,Modifying germline mutation in,Assessed
2593,Tubular aggregate myopathy,ORAI1,ORAI calcium release-activated calcium modulator 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
2593,Tubular aggregate myopathy,STIM1,stromal interaction molecule 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
2593,Tubular aggregate myopathy,CASQ1,calsequestrin 1,Disease-causing germline mutation(s) in,Assessed
261229,14q11.2 microduplication syndrome,CHD8,chromodomain helicase DNA binding protein 8,Role in the phenotype of,Assessed
261229,14q11.2 microduplication syndrome,SUPT16H,"SPT16 homolog, facilitates chromatin remodeling subunit",Role in the phenotype of,Assessed
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,ASAH1,N-acylsphingosine amidohydrolase 1,Disease-causing germline mutation(s) in,Assessed
2588,Myhre syndrome,SMAD4,SMAD family member 4,Disease-causing germline mutation(s) in,Assessed
261190,Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion,MEIS2,Meis homeobox 2,Role in the phenotype of,Assessed
261197,Proximal 16p11.2 microdeletion syndrome,SH2B1,SH2B adaptor protein 1,Role in the phenotype of,Assessed
261295,20p12.3 microdeletion syndrome,BMP2,bone morphogenetic protein 2,Role in the phenotype of,Assessed
261279,17q23.1q23.2 microdeletion syndrome,TBX4,T-box transcription factor 4,Role in the phenotype of,Assessed
261265,17q12 microdeletion syndrome,HNF1B,HNF1 homeobox B,Role in the phenotype of,Not yet assessed
261265,17q12 microdeletion syndrome,LHX1,LIM homeobox 1,Role in the phenotype of,Assessed
2616,3M syndrome,CUL7,cullin 7,Disease-causing germline mutation(s) in,Assessed
2616,3M syndrome,OBSL1,obscurin like cytoskeletal adaptor 1,Disease-causing germline mutation(s) in,Assessed
2616,3M syndrome,CCDC8,coiled-coil domain containing 8 subunit of 3M complex,Disease-causing germline mutation(s) in,Assessed
261250,16q24.3 microdeletion syndrome,ANKRD11,ankyrin repeat domain 11,Role in the phenotype of,Not yet assessed
2613,Nail-patella-like renal disease,LMX1B,LIM homeobox transcription factor 1 beta,Disease-causing germline mutation(s) in,Assessed
261257,Distal 17p13.3 microdeletion syndrome,YWHAE,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,Role in the phenotype of,Assessed
2623,Geleophysic dysplasia,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
2623,Geleophysic dysplasia,ADAMTSL2,ADAMTS like 2,Disease-causing germline mutation(s) in,Assessed
2623,Geleophysic dysplasia,LTBP3,latent transforming growth factor beta binding protein 3,Disease-causing germline mutation(s) in,Assessed
261330,Distal 22q11.2 microdeletion syndrome,BCR,BCR activator of RhoGEF and GTPase,Role in the phenotype of,Assessed
261330,Distal 22q11.2 microdeletion syndrome,MAPK1,mitogen-activated protein kinase 1,Role in the phenotype of,Assessed
261330,Distal 22q11.2 microdeletion syndrome,CRKL,"CRK like proto-oncogene, adaptor protein",Role in the phenotype of,Assessed
261323,21q22.11q22.12 microdeletion syndrome,KIF15,kinesin family member 15,Disease-causing germline mutation(s) (loss of function) in,Assessed
2639,Fibular aplasia-complex brachydactyly syndrome,BMPR1B,bone morphogenetic protein receptor type 1B,Disease-causing germline mutation(s) in,Assessed
2639,Fibular aplasia-complex brachydactyly syndrome,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
261483,Xq27.3q28 duplication syndrome,FMR1,fragile X messenger ribonucleoprotein 1,Role in the phenotype of,Assessed
2632,Langer mesomelic dysplasia,SHOX,SHOX homeobox,Disease-causing germline mutation(s) (loss of function) in,Assessed
2645,Osteoglosphonic dysplasia,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
261584,5q22 microdeletion syndrome,APC,APC regulator of Wnt signaling pathway,Role in the phenotype of,Assessed
261600,Alagille syndrome due to 20p12 microdeletion,JAG1,jagged canonical Notch ligand 1,Role in the phenotype of,Assessed
261619,Alagille syndrome due to a JAG1 point mutation,JAG1,jagged canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
261537,Mowat-Wilson syndrome due to monosomy 2q22,ZEB2,zinc finger E-box binding homeobox 2,Role in the phenotype of,Assessed
261552,Mowat-Wilson syndrome due to a ZEB2 point mutation,ZEB2,zinc finger E-box binding homeobox 2,Disease-causing germline mutation(s) in,Assessed
2636,Microcephalic osteodysplastic primordial dwarfism types I and III,RNU4ATAC,"RNA, U4atac small nuclear",Disease-causing germline mutation(s) in,Assessed
2658,Lenz-Majewski hyperostotic dysplasia,PTDSS1,phosphatidylserine synthase 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
261629,Alagille syndrome due to a NOTCH2 point mutation,NOTCH2,notch receptor 2,Disease-causing germline mutation(s) in,Assessed
261638,Okihiro syndrome due to 20q13 microdeletion,SALL4,spalt like transcription factor 4,Role in the phenotype of,Assessed
261647,Okihiro syndrome due to a point mutation,SALL4,spalt like transcription factor 4,Disease-causing germline mutation(s) in,Assessed
261652,Kleefstra syndrome due to a point mutation,KMT2C,lysine methyltransferase 2C,Disease-causing germline mutation(s) (loss of function) in,Assessed
261652,Kleefstra syndrome due to a point mutation,EHMT1,euchromatic histone lysine methyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
3057,Monoamine oxidase A deficiency,MAOA,monoamine oxidase A,Disease-causing germline mutation(s) in,Assessed
3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",KAT6B,lysine acetyltransferase 6B,Disease-causing germline mutation(s) in,Assessed
3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,ZBTB20,zinc finger and BTB domain containing 20,Disease-causing germline mutation(s) in,Assessed
263662,Familial multiple meningioma,SMARCB1,SWI/SNF related BAF chromatin remodeling complex subunit B1,Disease-causing germline mutation(s) in,Assessed
263662,Familial multiple meningioma,SUFU,SUFU negative regulator of hedgehog signaling,Major susceptibility factor in,Assessed
263662,Familial multiple meningioma,SMARCE1,SWI/SNF related BAF chromatin remodeling complex subunit E1,Disease-causing germline mutation(s) (loss of function) in,Assessed
263662,Familial multiple meningioma,MN1,"MN1 proto-oncogene, transcriptional regulator",Candidate gene tested in,Not yet assessed
263662,Familial multiple meningioma,PDGFB,platelet derived growth factor subunit B,Candidate gene tested in,Not yet assessed
263548,Peeling skin syndrome type A,FLG2,filaggrin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
263548,Peeling skin syndrome type A,CHST8,carbohydrate sulfotransferase 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
263548,Peeling skin syndrome type A,SERPINB8,serpin family B member 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
263553,Peeling skin syndrome type B,CDSN,corneodesmosin,Disease-causing germline mutation(s) in,Assessed
3032,NPHP3-related Meckel-like syndrome,NPHP3,nephrocystin 3,Disease-causing germline mutation(s) in,Assessed
263534,Acral peeling skin syndrome,CSTA,cystatin A,Disease-causing germline mutation(s) in,Assessed
263534,Acral peeling skin syndrome,TGM5,transglutaminase 5,Disease-causing germline mutation(s) in,Assessed
263516,Progressive myoclonic epilepsy type 3,KCTD7,potassium channel tetramerization domain containing 7,Disease-causing germline mutation(s) in,Assessed
263524,Acute necrotizing encephalopathy of childhood,CPT2,carnitine palmitoyltransferase 2,Candidate gene tested in,Not yet assessed
263524,Acute necrotizing encephalopathy of childhood,RANBP2,RAN binding protein 2,Major susceptibility factor in,Not yet assessed
263501,COG4-CDG,COG4,component of oligomeric golgi complex 4,Disease-causing germline mutation(s) in,Assessed
263508,COG1-CDG,COG1,component of oligomeric golgi complex 1,Disease-causing germline mutation(s) in,Assessed
263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) in,Assessed
3021,RAPADILINO syndrome,RECQL4,RecQ like helicase 4,Disease-causing germline mutation(s) in,Assessed
263494,DPM3-CDG,DPM3,"dolichyl-phosphate mannosyltransferase subunit 3, regulatory",Disease-causing germline mutation(s) in,Assessed
263487,COG5-CDG,COG5,component of oligomeric golgi complex 5,Disease-causing germline mutation(s) in,Assessed
263458,Hyperinsulinism due to INSR deficiency,INSR,insulin receptor,Disease-causing germline mutation(s) in,Assessed
263455,Congenital hyperinsulinism due to HNF4A deficiency,HNF4A,hepatocyte nuclear factor 4 alpha,Disease-causing germline mutation(s) in,Assessed
1832,Osteosclerotic bone dysplasia,FAM20C,FAM20C golgi associated secretory pathway kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
3019,Ramon syndrome,ELMO2,engulfment and cell motility 2,Disease-causing germline mutation(s) in,Assessed
263463,CHST3-related skeletal dysplasia,CHST3,carbohydrate sulfotransferase 3,Disease-causing germline mutation(s) in,Assessed
263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,SLC19A3,solute carrier family 19 member 3,Disease-causing germline mutation(s) in,Assessed
769,Rabson-Mendenhall syndrome,INSR,insulin receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
3005,Pyle disease,SFRP4,secreted frizzled related protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
263347,MRCS syndrome,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
2990,Autosomal recessive multiple pterygium syndrome,CHRNG,cholinergic receptor nicotinic gamma subunit,Disease-causing germline mutation(s) in,Assessed
2990,Autosomal recessive multiple pterygium syndrome,MYH3,myosin heavy chain 3,Disease-causing germline mutation(s) in,Assessed
263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,GYG1,glycogenin 1,Disease-causing germline mutation(s) in,Assessed
3138,Ulnar-mammary syndrome,TBX3,T-box transcription factor 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
3144,Schneckenbecken dysplasia,SLC35D1,solute carrier family 35 member D1,Disease-causing germline mutation(s) (loss of function) in,Assessed
3144,Schneckenbecken dysplasia,INPPL1,inositol polyphosphate phosphatase like 1,Disease-causing germline mutation(s) in,Assessed
798,Schinzel-Giedion syndrome,SETBP1,SET binding protein 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
3115,Roussy-Lévy syndrome,PMP22,peripheral myelin protein 22,Disease-causing germline mutation(s) in,Assessed
3115,Roussy-Lévy syndrome,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
3102,Richieri Costa-Pereira syndrome,EIF4A3,eukaryotic translation initiation factor 4A3,Disease-causing germline mutation(s) (loss of function) in,Assessed
3107,Autosomal dominant Robinow syndrome,DVL3,dishevelled segment polarity protein 3,Disease-causing germline mutation(s) in,Assessed
3107,Autosomal dominant Robinow syndrome,WNT5A,Wnt family member 5A,Disease-causing germline mutation(s) in,Assessed
3107,Autosomal dominant Robinow syndrome,DVL1,dishevelled segment polarity protein 1,Disease-causing germline mutation(s) in,Assessed
3107,Autosomal dominant Robinow syndrome,FZD2,frizzled class receptor 2,Disease-causing germline mutation(s) in,Assessed
3086,Autosomal dominant vitreoretinochoroidopathy,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
3088,Revesz syndrome,TINF2,TERF1 interacting nuclear factor 2,Disease-causing germline mutation(s) in,Assessed
3097,Meacham syndrome,WT1,WT1 transcription factor,Disease-causing germline mutation(s) in,Assessed
3078,"Severe X-linked intellectual disability, Gustavson type",RBMX,RNA binding motif protein X-linked,Disease-causing germline mutation(s) in,Assessed
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,MECP2,methyl-CpG binding protein 2,Disease-causing germline mutation(s) in,Assessed
3063,"X-linked intellectual disability, Snyder type",SMS,spermine synthase,Disease-causing germline mutation(s) (loss of function) in,Assessed
2886,TARP syndrome,RBM10,RNA binding motif protein 10,Disease-causing germline mutation(s) in,Assessed
2884,Piebaldism,SNAI2,snail family transcriptional repressor 2,Disease-causing germline mutation(s) in,Assessed
2884,Piebaldism,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) (loss of function) in,Assessed
2879,"Phocomelia, Schinzel type",WNT7A,Wnt family member 7A,Disease-causing germline mutation(s) (loss of function) in,Assessed
268882,Arnold-Chiari malformation type I,DKK1,dickkopf Wnt signaling pathway inhibitor 1,Disease-causing germline mutation(s) in,Assessed
268823,Occipital encephalocele,DACT1,dishevelled binding antagonist of beta catenin 1,Disease-causing germline mutation(s) in,Assessed
2874,Phakomatosis pigmentokeratotica,HRAS,"HRas proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,PRG4,proteoglycan 4,Disease-causing germline mutation(s) in,Assessed
2854,Fuhrmann syndrome,WNT7A,Wnt family member 7A,Disease-causing germline mutation(s) (loss of function) in,Assessed
708,Peters anomaly,FOXC1,forkhead box C1,Disease-causing germline mutation(s) in,Assessed
708,Peters anomaly,CYP1B1,cytochrome P450 family 1 subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
708,Peters anomaly,PITX2,paired like homeodomain 2,Candidate gene tested in,Not yet assessed
708,Peters anomaly,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
708,Peters anomaly,FOXE3,forkhead box E3,Disease-causing germline mutation(s) in,Assessed
2850,Alopecia-intellectual disability syndrome,ITGB6,integrin subunit beta 6,Disease-causing germline mutation(s) in,Assessed
2850,Alopecia-intellectual disability syndrome,LSS,lanosterol synthase,Disease-causing germline mutation(s) in,Assessed
2850,Alopecia-intellectual disability syndrome,AHSG,alpha 2-HS glycoprotein,Disease-causing germline mutation(s) in,Assessed
268114,RAS-associated autoimmune leukoproliferative disease,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
268114,RAS-associated autoimmune leukoproliferative disease,NRAS,"NRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
268129,Spheroid body myopathy,MYOT,myotilin,Disease-causing germline mutation(s) in,Assessed
2822,Autosomal recessive spastic paraplegia type 11,SPG11,"SPG11 vesicle trafficking associated, spatacsin",Disease-causing germline mutation(s) in,Assessed
268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,DYRK1A,dual specificity tyrosine phosphorylation regulated kinase 1A,Role in the phenotype of,Assessed
2836,PEHO syndrome,ZNHIT3,zinc finger HIT-type containing 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
268162,Intermediate maple syrup urine disease,BCKDHA,branched chain keto acid dehydrogenase E1 subunit alpha,Disease-causing germline mutation(s) in,Assessed
268162,Intermediate maple syrup urine disease,BCKDHB,branched chain keto acid dehydrogenase E1 subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
268162,Intermediate maple syrup urine disease,DBT,dihydrolipoamide branched chain transacylase E2,Disease-causing germline mutation(s) (loss of function) in,Assessed
268162,Intermediate maple syrup urine disease,PPM1K,"protein phosphatase, Mg2+/Mn2+ dependent 1K",Disease-causing germline mutation(s) in,Assessed
268145,Classic maple syrup urine disease,BCKDHA,branched chain keto acid dehydrogenase E1 subunit alpha,Disease-causing germline mutation(s) in,Assessed
268145,Classic maple syrup urine disease,BCKDHB,branched chain keto acid dehydrogenase E1 subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
268145,Classic maple syrup urine disease,DBT,dihydrolipoamide branched chain transacylase E2,Disease-causing germline mutation(s) (loss of function) in,Assessed
268184,Thiamine-responsive maple syrup urine disease,DBT,dihydrolipoamide branched chain transacylase E2,Disease-causing germline mutation(s) (loss of function) in,Assessed
2833,Stiff skin syndrome,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
2834,Wrinkly skin syndrome,ATP6V0A2,ATPase H+ transporting V0 subunit a2,Disease-causing germline mutation(s) (loss of function) in,Assessed
268173,Intermittent maple syrup urine disease,BCKDHA,branched chain keto acid dehydrogenase E1 subunit alpha,Disease-causing germline mutation(s) in,Assessed
268173,Intermittent maple syrup urine disease,BCKDHB,branched chain keto acid dehydrogenase E1 subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
268173,Intermittent maple syrup urine disease,DBT,dihydrolipoamide branched chain transacylase E2,Disease-causing germline mutation(s) (loss of function) in,Assessed
2969,Proteus-like syndrome,PTEN,phosphatase and tensin homolog,Disease-causing germline mutation(s) in,Assessed
750,Pseudoachondroplasia,COMP,cartilage oligomeric matrix protein,Disease-causing germline mutation(s) in,Assessed
1848,"Renal agenesis, bilateral",WNT9B,Wnt family member 9B,Disease-causing germline mutation(s) (loss of function) in,Assessed
1848,"Renal agenesis, bilateral",GREB1L,GREB1 like retinoic acid receptor coactivator,Disease-causing germline mutation(s) (loss of function) in,Assessed
1848,"Renal agenesis, bilateral",RET,ret proto-oncogene,Disease-causing germline mutation(s) (loss of function) in,Assessed
1848,"Renal agenesis, bilateral",ITGA8,integrin subunit alpha 8,Disease-causing germline mutation(s) in,Assessed
1848,"Renal agenesis, bilateral",FGF20,fibroblast growth factor 20,Disease-causing germline mutation(s) (loss of function) in,Assessed
1848,"Renal agenesis, bilateral",GFRA1,GDNF family receptor alpha 1,Disease-causing germline mutation(s) in,Assessed
740,Hutchinson-Gilford progeria syndrome,ZMPSTE24,zinc metallopeptidase STE24,Disease-causing germline mutation(s) in,Assessed
740,Hutchinson-Gilford progeria syndrome,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
2957,Guttmacher syndrome,HOXA13,homeobox A13,Disease-causing germline mutation(s) in,Assessed
2924,Isolated polycystic liver disease,PRKCSH,PRKCSH beta subunit of glucosidase II,Disease-causing germline mutation(s) in,Assessed
2924,Isolated polycystic liver disease,SEC63,SEC63 protein translocation regulator,Disease-causing germline mutation(s) in,Assessed
2924,Isolated polycystic liver disease,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) in,Assessed
2924,Isolated polycystic liver disease,ALG8,"ALG8 alpha-1,3-glucosyltransferase",Disease-causing germline mutation(s) in,Assessed
2896,Pitt-Hopkins syndrome,TCF4,transcription factor 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
2896,Pitt-Hopkins syndrome,TCF4,transcription factor 4,Role in the phenotype of,Assessed
2899,Brachyolmia-amelogenesis imperfecta syndrome,LTBP3,latent transforming growth factor beta binding protein 3,Disease-causing germline mutation(s) in,Assessed
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,PHKA2,phosphorylase kinase regulatory subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,PHKG2,phosphorylase kinase catalytic subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
2919,Orofaciodigital syndrome type 5,DDX59,DEAD-box helicase 59,Disease-causing germline mutation(s) in,Assessed
264675,Hereditary pulmonary alveolar proteinosis,CSF2RB,colony stimulating factor 2 receptor subunit beta,Disease-causing germline mutation(s) in,Assessed
264675,Hereditary pulmonary alveolar proteinosis,CSF2RA,colony stimulating factor 2 receptor subunit alpha,Disease-causing germline mutation(s) in,Assessed
3377,Trismus-pseudocamptodactyly syndrome,MYH8,myosin heavy chain 8,Disease-causing germline mutation(s) in,Assessed
275777,Heritable pulmonary arterial hypertension,ATP13A3,ATPase 13A3,Disease-causing germline mutation(s) in,Assessed
275777,Heritable pulmonary arterial hypertension,ACVRL1,activin A receptor like type 1,Candidate gene tested in,Not yet assessed
275777,Heritable pulmonary arterial hypertension,BMPR2,bone morphogenetic protein receptor type 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
275777,Heritable pulmonary arterial hypertension,TBX4,T-box transcription factor 4,Disease-causing germline mutation(s) in,Assessed
275777,Heritable pulmonary arterial hypertension,ENG,endoglin,Candidate gene tested in,Not yet assessed
275777,Heritable pulmonary arterial hypertension,CAV1,caveolin 1,Disease-causing germline mutation(s) in,Assessed
275777,Heritable pulmonary arterial hypertension,SMAD9,SMAD family member 9,Disease-causing germline mutation(s) in,Assessed
275777,Heritable pulmonary arterial hypertension,KCNK3,potassium two pore domain channel subfamily K member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
275777,Heritable pulmonary arterial hypertension,EIF2AK4,eukaryotic translation initiation factor 2 alpha kinase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
275777,Heritable pulmonary arterial hypertension,GDF2,growth differentiation factor 2,Disease-causing germline mutation(s) in,Assessed
275777,Heritable pulmonary arterial hypertension,SOX17,SRY-box transcription factor 17,Major susceptibility factor in,Assessed
275786,Drug- or toxin-induced pulmonary arterial hypertension,BMPR2,bone morphogenetic protein receptor type 2,Major susceptibility factor in,Assessed
275798,Pulmonary arterial hypertension associated with connective tissue disease,HLA-B,"major histocompatibility complex, class I, B",Major susceptibility factor in,Not yet assessed
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,PNPLA6,"patatin like domain 6, lysophospholipase",Disease-causing germline mutation(s) (loss of function) in,Assessed
3366,Non-syndromic metopic craniosynostosis,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) in,Assessed
3366,Non-syndromic metopic craniosynostosis,FREM1,FRAS1 related extracellular matrix 1,Disease-causing germline mutation(s) in,Assessed
276148,Benign epithelial tumor of salivary glands,PLAG1,PLAG1 zinc finger,Part of a fusion gene in,Assessed
276148,Benign epithelial tumor of salivary glands,HMGA2,high mobility group AT-hook 2,Part of a fusion gene in,Assessed
276145,Malignant epithelial tumor of salivary glands,PRKD1,protein kinase D1,Disease-causing somatic mutation(s) in,Assessed
3412,VACTERL with hydrocephalus,FANCB,FA complementation group B,Disease-causing germline mutation(s) (loss of function) in,Assessed
276152,Multiple endocrine neoplasia type 4,CDKN1B,cyclin dependent kinase inhibitor 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
275872,Frontotemporal dementia with motor neuron disease,VCP,valosin containing protein,Disease-causing germline mutation(s) in,Assessed
275872,Frontotemporal dementia with motor neuron disease,TARDBP,TAR DNA binding protein,Disease-causing germline mutation(s) in,Assessed
275872,Frontotemporal dementia with motor neuron disease,FUS,FUS RNA binding protein,Major susceptibility factor in,Not yet assessed
275872,Frontotemporal dementia with motor neuron disease,SQSTM1,sequestosome 1,Disease-causing germline mutation(s) in,Assessed
275872,Frontotemporal dementia with motor neuron disease,C9ORF72,C9orf72-SMCR8 complex subunit,Disease-causing germline mutation(s) in,Assessed
275872,Frontotemporal dementia with motor neuron disease,TBK1,TANK binding kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
275872,Frontotemporal dementia with motor neuron disease,CHCHD10,coiled-coil-helix-coiled-coil-helix domain containing 10,Disease-causing germline mutation(s) in,Assessed
3384,Common arterial trunk,NKX2-6,NK2 homeobox 6,Major susceptibility factor in,Assessed
3384,Common arterial trunk,PLXND1,plexin D1,Disease-causing germline mutation(s) in,Assessed
275864,Behavioral variant of frontotemporal dementia,TMEM106B,transmembrane protein 106B,Major susceptibility factor in,Assessed
275864,Behavioral variant of frontotemporal dementia,PSEN1,presenilin 1,Disease-causing germline mutation(s) in,Assessed
275864,Behavioral variant of frontotemporal dementia,CHMP2B,charged multivesicular body protein 2B,Major susceptibility factor in,Assessed
275864,Behavioral variant of frontotemporal dementia,TREM2,triggering receptor expressed on myeloid cells 2,Major susceptibility factor in,Assessed
275864,Behavioral variant of frontotemporal dementia,VCP,valosin containing protein,Major susceptibility factor in,Not yet assessed
275864,Behavioral variant of frontotemporal dementia,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
275864,Behavioral variant of frontotemporal dementia,GRN,granulin precursor,Major susceptibility factor in,Assessed
275864,Behavioral variant of frontotemporal dementia,SQSTM1,sequestosome 1,Disease-causing germline mutation(s) in,Assessed
275864,Behavioral variant of frontotemporal dementia,C9ORF72,C9orf72-SMCR8 complex subunit,Major susceptibility factor in,Assessed
3329,Tibial aplasia-ectrodactyly syndrome,BHLHA9,basic helix-loop-helix family member a9,Major susceptibility factor in,Not yet assessed
3322,Hoyeraal-Hreidarsson syndrome,DKC1,dyskerin pseudouridine synthase 1,Disease-causing germline mutation(s) in,Assessed
3322,Hoyeraal-Hreidarsson syndrome,TERT,telomerase reverse transcriptase,Disease-causing germline mutation(s) in,Assessed
3322,Hoyeraal-Hreidarsson syndrome,TINF2,TERF1 interacting nuclear factor 2,Disease-causing germline mutation(s) in,Assessed
3322,Hoyeraal-Hreidarsson syndrome,RTEL1,regulator of telomere elongation helicase 1,Disease-causing germline mutation(s) in,Assessed
3322,Hoyeraal-Hreidarsson syndrome,ACD,ACD shelterin complex subunit and telomerase recruitment factor,Disease-causing germline mutation(s) in,Assessed
3322,Hoyeraal-Hreidarsson syndrome,PARN,poly(A)-specific ribonuclease,Disease-causing germline mutation(s) in,Assessed
275555,Preeclampsia,FLT1,fms related receptor tyrosine kinase 1,Major susceptibility factor in,Assessed
275555,Preeclampsia,STOX1,storkhead box 1,Major susceptibility factor in,Assessed
275555,Preeclampsia,CORIN,"corin, serine peptidase",Major susceptibility factor in,Assessed
275517,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,CASP8,caspase 8,Disease-causing germline mutation(s) in,Assessed
3352,Tricho-dento-osseous syndrome,DLX3,distal-less homeobox 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
3342,Arterial tortuosity syndrome,SLC2A10,solute carrier family 2 member 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
3339,Oculoectodermal syndrome,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
3338,Toriello-Carey syndrome,DDX3X,DEAD-box helicase 3 X-linked,Disease-causing germline mutation(s) (loss of function) in,Assessed
3472,Yunis-Varon syndrome,FIG4,FIG4 phosphoinositide 5-phosphatase,Disease-causing germline mutation(s) (loss of function) in,Assessed
3472,Yunis-Varon syndrome,VAC14,VAC14 component of PIKFYVE complex,Disease-causing germline mutation(s) in,Assessed
3319,Congenital amegakaryocytic thrombocytopenia,THPO,thrombopoietin,Disease-causing germline mutation(s) in,Assessed
3319,Congenital amegakaryocytic thrombocytopenia,MPL,"MPL proto-oncogene, thrombopoietin receptor",Disease-causing germline mutation(s) (loss of function) in,Assessed
3473,Zimmermann-Laband syndrome,KCNN3,potassium calcium-activated channel subfamily N member 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
3473,Zimmermann-Laband syndrome,ATP6V1B2,ATPase H+ transporting V1 subunit B2,Disease-causing germline mutation(s) in,Assessed
3473,Zimmermann-Laband syndrome,KCNH1,potassium voltage-gated channel subfamily H member 1,Disease-causing germline mutation(s) in,Assessed
3459,Wilson-Turner syndrome,HDAC8,histone deacetylase 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
3459,Wilson-Turner syndrome,LAS1L,LAS1 like ribosome biogenesis factor,Disease-causing germline mutation(s) in,Assessed
2995,Baraitser-Winter cerebrofrontofacial syndrome,ACTB,actin beta,Disease-causing germline mutation(s) (gain of function) in,Assessed
2995,Baraitser-Winter cerebrofrontofacial syndrome,ACTG1,actin gamma 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
3243,Sweet syndrome,PTPN6,protein tyrosine phosphatase non-receptor type 6,Major susceptibility factor in,Assessed
3243,Sweet syndrome,MEFV,"MEFV innate immunity regulator, pyrin",Disease-causing germline mutation(s) in,Assessed
1827,Acromelic frontonasal dysplasia,ZSWIM6,zinc finger SWIM-type containing 6,Disease-causing germline mutation(s) in,Assessed
268973,Isolated focal cortical dysplasia type Ia,SLC35A2,solute carrier family 35 member A2,Disease-causing somatic mutation(s) in,Assessed
269008,Isolated focal cortical dysplasia type IIb,TSC2,TSC complex subunit 2,Disease-causing somatic mutation(s) in,Assessed
269008,Isolated focal cortical dysplasia type IIb,MTOR,mechanistic target of rapamycin kinase,Disease-causing somatic mutation(s) in,Assessed
269008,Isolated focal cortical dysplasia type IIb,TSC1,TSC complex subunit 1,Disease-causing somatic mutation(s) in,Assessed
269001,Isolated focal cortical dysplasia type IIa,TSC2,TSC complex subunit 2,Disease-causing somatic mutation(s) in,Assessed
269001,Isolated focal cortical dysplasia type IIa,MTOR,mechanistic target of rapamycin kinase,Disease-causing somatic mutation(s) in,Assessed
2460,Van den Ende-Gupta syndrome,SCARF2,scavenger receptor class F member 2,Disease-causing germline mutation(s) in,Assessed
3416,Hyperostosis corticalis generalisata,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) in,Assessed
3416,Hyperostosis corticalis generalisata,SOST,sclerostin,Disease-causing germline mutation(s) in,Assessed
3453,Autoimmune polyendocrinopathy type 1,AIRE,autoimmune regulator,Disease-causing germline mutation(s) (loss of function) in,Assessed
3449,Weill-Marchesani syndrome,ADAMTS17,ADAM metallopeptidase with thrombospondin type 1 motif 17,Disease-causing germline mutation(s) (loss of function) in,Assessed
3449,Weill-Marchesani syndrome,ADAMTS10,ADAM metallopeptidase with thrombospondin type 1 motif 10,Disease-causing germline mutation(s) in,Assessed
3449,Weill-Marchesani syndrome,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
3449,Weill-Marchesani syndrome,LTBP2,latent transforming growth factor beta binding protein 2,Disease-causing germline mutation(s) in,Assessed
269510,Congenital non-communicating hydrocephalus,WDR81,WD repeat domain 81,Disease-causing germline mutation(s) in,Assessed
269510,Congenital non-communicating hydrocephalus,CCDC88C,coiled-coil and HOOK domain protein 88C,Disease-causing germline mutation(s) in,Assessed
3454,Wieacker-Wolff syndrome,ZC4H2,zinc finger C4H2-type containing,Disease-causing germline mutation(s) in,Assessed
3455,Wiedemann-Rautenstrauch syndrome,POLR3A,RNA polymerase III subunit A,Disease-causing germline mutation(s) in,Assessed
269505,Congenital communicating hydrocephalus,WDR81,WD repeat domain 81,Disease-causing germline mutation(s) in,Assessed
269505,Congenital communicating hydrocephalus,TRIM71,tripartite motif containing 71,Disease-causing germline mutation(s) in,Assessed
269505,Congenital communicating hydrocephalus,MPDZ,multiple PDZ domain crumbs cell polarity complex component,Disease-causing germline mutation(s) in,Assessed
269215,Isolated Dandy-Walker malformation without hydrocephalus,ZIC4,Zic family zinc finger 4,Role in the phenotype of,Assessed
269215,Isolated Dandy-Walker malformation without hydrocephalus,NID1,nidogen 1,Disease-causing germline mutation(s) in,Assessed
269215,Isolated Dandy-Walker malformation without hydrocephalus,ZIC1,Zic family zinc finger 1,Role in the phenotype of,Assessed
269212,Isolated Dandy-Walker malformation with hydrocephalus,ZIC1,Zic family zinc finger 1,Role in the phenotype of,Assessed
269212,Isolated Dandy-Walker malformation with hydrocephalus,ZIC4,Zic family zinc finger 4,Role in the phenotype of,Assessed
1856,Spondyloperipheral dysplasia-short ulna syndrome,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
280333,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,DAG1,dystroglycan 1,Disease-causing germline mutation(s) in,Assessed
280325,Distal deletion 12p syndrome,ERC1,ELKS/RAB6-interacting/CAST family member 1,Role in the phenotype of,Assessed
280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,AIMP1,aminoacyl tRNA synthetase complex interacting multifunctional protein 1,Disease-causing germline mutation(s) in,Assessed
280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,HSPD1,heat shock protein family D (Hsp60) member 1,Disease-causing germline mutation(s) in,Assessed
280365,Autosomal semi-dominant severe lipodystrophic laminopathy,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
3197,Hereditary hyperekplexia,ATAD1,ATPase family AAA domain containing 1,Disease-causing germline mutation(s) in,Assessed
3197,Hereditary hyperekplexia,GLRA1,glycine receptor alpha 1,Disease-causing germline mutation(s) in,Assessed
3197,Hereditary hyperekplexia,GLRB,glycine receptor beta,Disease-causing germline mutation(s) in,Assessed
3197,Hereditary hyperekplexia,GPHN,gephyrin,Disease-causing germline mutation(s) in,Assessed
3197,Hereditary hyperekplexia,SLC6A5,solute carrier family 6 member 5,Disease-causing germline mutation(s) in,Assessed
3193,Supravalvular aortic stenosis,ELN,elastin,Disease-causing germline mutation(s) (loss of function) in,Assessed
280356,PLIN1-related familial partial lipodystrophy,PLIN1,perilipin 1,Disease-causing germline mutation(s) in,Assessed
280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,COQ6,"coenzyme Q6, monooxygenase",Disease-causing germline mutation(s) in,Assessed
280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,ERLIN2,ER lipid raft associated 2,Disease-causing germline mutation(s) in,Assessed
280397,Familial Alzheimer-like prion disease,PRNP,prion protein (Kanno blood group),Disease-causing germline mutation(s) in,Assessed
280576,Nestor-Guillermo progeria syndrome,BANF1,barrier to autointegration nuclear assembly factor 1,Disease-causing germline mutation(s) in,Assessed
3220,Deafness-enamel hypoplasia-nail defects syndrome,PEX1,peroxisomal biogenesis factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
3220,Deafness-enamel hypoplasia-nail defects syndrome,PEX6,peroxisomal biogenesis factor 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
280586,"Chondrodysplasia with joint dislocations, gPAPP type",BPNT2,"3'(2'), 5'-bisphosphate nucleotidase 2",Disease-causing germline mutation(s) in,Assessed
280553,Fatal infantile hypertonic myofibrillar myopathy,CRYAB,crystallin alpha B,Disease-causing germline mutation(s) in,Assessed
280558,Warsaw breakage syndrome,DDX11,DEAD/H-box helicase 11,Disease-causing germline mutation(s) in,Assessed
647,Nijmegen breakage syndrome,NBN,nibrin,Disease-causing germline mutation(s) in,Assessed
279943,Hereditary neutrophilia,CSF3R,colony stimulating factor 3 receptor,Disease-causing germline mutation(s) in,Assessed
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",DGUOK,deoxyguanosine kinase,Disease-causing germline mutation(s) in,Assessed
3152,Sclerosteosis,SOST,sclerostin,Disease-causing germline mutation(s) (loss of function) in,Assessed
3152,Sclerosteosis,LRP4,LDL receptor related protein 4,Disease-causing germline mutation(s) in,Assessed
280142,Combined immunodeficiency due to LCK deficiency,LCK,"LCK proto-oncogene, Src family tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
280133,Complement component 3 deficiency,C3,complement C3,Disease-causing germline mutation(s) (loss of function) in,Assessed
3163,SHORT syndrome,PIK3R1,phosphoinositide-3-kinase regulatory subunit 1,Disease-causing germline mutation(s) in,Assessed
1479,Atrial septal defect-atrioventricular conduction defects syndrome,NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,CEP290,centrosomal protein 290,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,INVS,inversin,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,IQCB1,IQ motif containing B1,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,NPHP1,nephrocystin 1,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,NPHP3,nephrocystin 3,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,NPHP4,nephrocystin 4,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,SDCCAG8,SHH signaling and ciliogenesis regulator SDCCAG8,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,WDR19,WD repeat domain 19,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,CEP164,centrosomal protein 164,Disease-causing germline mutation(s) in,Assessed
3156,Senior-Loken syndrome,TRAF3IP1,TRAF3 interacting protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
280071,ALG11-CDG,ALG11,"ALG11 alpha-1,2-mannosyltransferase",Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,PROKR2,prokineticin receptor 2,Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,SOX2,SRY-box transcription factor 2,Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,HESX1,HESX homeobox 1,Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,OTX2,orthodenticle homeobox 2,Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,SOX3,SRY-box transcription factor 3,Disease-causing germline mutation(s) in,Assessed
3157,Septo-optic dysplasia spectrum,ARNT2,aryl hydrocarbon receptor nuclear translocator 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
280210,"Pelizaeus-Merzbacher disease, connatal form",PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
280219,"Pelizaeus-Merzbacher disease, classic form",PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,FGFR1,fibroblast growth factor receptor 1,Candidate gene tested in,Not yet assessed
280200,Microform holoprosencephaly,SUFU,SUFU negative regulator of hedgehog signaling,Candidate gene tested in,Not yet assessed
280200,Microform holoprosencephaly,PTCH1,patched 1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,SIX3,SIX homeobox 3,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,TGIF1,TGFB induced factor homeobox 1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,ZIC2,Zic family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,CRIPTO,"cripto, EGF-CFC family member",Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,FOXH1,forkhead box H1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,DISP1,dispatched RND transporter family member 1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,GAS1,growth arrest specific 1,Disease-causing germline mutation(s) in,Assessed
280200,Microform holoprosencephaly,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
3175,X-linked spasticity-intellectual disability-epilepsy syndrome,ARX,aristaless related homeobox,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,STIL,STIL centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,PTCH1,patched 1,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,SIX3,SIX homeobox 3,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,TGIF1,TGFB induced factor homeobox 1,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,ZIC2,Zic family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,CRIPTO,"cripto, EGF-CFC family member",Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,FOXH1,forkhead box H1,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,DISP1,dispatched RND transporter family member 1,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
280195,Septopreoptic holoprosencephaly,GAS1,growth arrest specific 1,Disease-causing germline mutation(s) in,Assessed
280183,Methylmalonic aciduria due to transcobalamin receptor defect,CD320,CD320 molecule,Disease-causing germline mutation(s) in,Assessed
280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,GJC2,gap junction protein gamma 2,Disease-causing germline mutation(s) in,Assessed
280270,Pelizaeus-Merzbacher-like disease,MAL,"mal, T cell differentiation protein (MAL blood group)",Disease-causing germline mutation(s) in,Assessed
280234,Null syndrome,PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
1855,Spondyloenchondrodysplasia,ACP5,"acid phosphatase 5, tartrate resistant",Disease-causing germline mutation(s) in,Assessed
280224,"Pelizaeus-Merzbacher disease, transitional form",PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
1797,Autosomal dominant spondylocostal dysostosis,TBX6,T-box transcription factor 6,Disease-causing germline mutation(s) in,Assessed
280229,Pelizaeus-Merzbacher disease in female carriers,PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) in,Assessed
3258,Cenani-Lenz syndrome,APC,APC regulator of Wnt signaling pathway,Disease-causing germline mutation(s) in,Assessed
3258,Cenani-Lenz syndrome,LRP4,LDL receptor related protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
276598,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
276603,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) in,Assessed
276621,Sporadic pheochromocytoma/secreting paraganglioma,SDHD,succinate dehydrogenase complex subunit D,Major susceptibility factor in,Assessed
276621,Sporadic pheochromocytoma/secreting paraganglioma,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Major susceptibility factor in,Assessed
276621,Sporadic pheochromocytoma/secreting paraganglioma,DNMT3A,DNA methyltransferase 3 alpha,Disease-causing germline mutation(s) (gain of function) in,Assessed
276621,Sporadic pheochromocytoma/secreting paraganglioma,EPAS1,endothelial PAS domain protein 1,Disease-causing somatic mutation(s) in,Assessed
276621,Sporadic pheochromocytoma/secreting paraganglioma,VHL,von Hippel-Lindau tumor suppressor,Major susceptibility factor in,Assessed
276621,Sporadic pheochromocytoma/secreting paraganglioma,RET,ret proto-oncogene,Major susceptibility factor in,Assessed
276630,Symptomatic form of Coffin-Lowry syndrome in female carriers,RPS6KA3,ribosomal protein S6 kinase A3,Disease-causing germline mutation(s) in,Assessed
3275,Spondylocarpotarsal synostosis,MYH3,myosin heavy chain 3,Disease-causing germline mutation(s) in,Assessed
3275,Spondylocarpotarsal synostosis,FLNB,filamin B,Disease-causing germline mutation(s) (loss of function) in,Assessed
425,Apolipoprotein A-I deficiency,APOA1,apolipoprotein A1,Disease-causing germline mutation(s) in,Assessed
425,Apolipoprotein A-I deficiency,ABCA1,ATP binding cassette subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
3301,Tetraamelia-multiple malformations syndrome,RSPO2,R-spondin 2,Disease-causing germline mutation(s) in,Assessed
3301,Tetraamelia-multiple malformations syndrome,TBX4,T-box transcription factor 4,Disease-causing germline mutation(s) in,Assessed
3301,Tetraamelia-multiple malformations syndrome,WNT3,Wnt family member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
276198,Spinocerebellar ataxia type 36,NOP56,NOP56 ribonucleoprotein,Disease-causing germline mutation(s) in,Assessed
276193,Spinocerebellar ataxia type 35,TGM6,transglutaminase 6,Disease-causing germline mutation(s) in,Assessed
276183,Spinocerebellar ataxia type 32,SCA32,spinocerebellar ataxia 32,Disease-causing germline mutation(s) in,Assessed
276238,Machado-Joseph disease type 1,ATXN3,ataxin 3,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CFAP251,cilia and flagella associated protein 251,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CFAP43,cilia and flagella associated protein 43,Disease-causing germline mutation(s) (loss of function) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CFAP44,cilia and flagella associated protein 44,Disease-causing germline mutation(s) (loss of function) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,ARMC2,armadillo repeat containing 2,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,TTC21A,tetratricopeptide repeat domain 21A,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,AK7,adenylate kinase 7,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CFAP65,cilia and flagella associated protein 65,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CFAP69,cilia and flagella associated protein 69,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,AKAP4,A-kinase anchoring protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,SPAG17,sperm associated antigen 17,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,ACTL9,actin like 9,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,TEKT3,tektin 3,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,DNALI1,dynein axonemal light intermediate chain 1,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,USP26,ubiquitin specific peptidase 26,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,FSIP2,fibrous sheath interacting protein 2,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CFAP70,cilia and flagella associated protein 70,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,TTC29,tetratricopeptide repeat domain 29,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,CATSPER1,cation channel sperm associated 1,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,SLC26A8,solute carrier family 26 member 8,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,SEPTIN12,septin 12,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,DNAH1,dynein axonemal heavy chain 1,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,SSX1,SSX family member 1,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,DRC1,dynein regulatory complex subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,DNAH17,dynein axonemal heavy chain 17,Disease-causing germline mutation(s) in,Assessed
276234,Non-syndromic male infertility due to sperm motility disorder,SPEF2,sperm flagellar 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
276223,"Mucopolysaccharidosis type 6, slowly progressing",ARSB,arylsulfatase B,Disease-causing germline mutation(s) in,Assessed
276212,"Mucopolysaccharidosis type 6, rapidly progressing",ARSB,arylsulfatase B,Disease-causing germline mutation(s) in,Assessed
276244,Machado-Joseph disease type 3,ATXN3,ataxin 3,Disease-causing germline mutation(s) in,Assessed
276241,Machado-Joseph disease type 2,ATXN3,ataxin 3,Disease-causing germline mutation(s) in,Assessed
276280,Hemihyperplasia-multiple lipomatosis syndrome,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
276399,Familial multinodular goiter,KEAP1,kelch like ECH associated protein 1,Disease-causing germline mutation(s) in,Assessed
276399,Familial multinodular goiter,DICER1,"dicer 1, ribonuclease III",Major susceptibility factor in,Assessed
3238,Cardiospondylocarpofacial syndrome,MAP3K7,mitogen-activated protein kinase kinase kinase 7,Disease-causing germline mutation(s) in,Assessed
3237,Multiple synostoses syndrome,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
3237,Multiple synostoses syndrome,NOG,noggin,Disease-causing germline mutation(s) in,Assessed
3237,Multiple synostoses syndrome,FGF9,fibroblast growth factor 9,Disease-causing germline mutation(s) in,Assessed
3237,Multiple synostoses syndrome,GDF6,growth differentiation factor 6,Disease-causing germline mutation(s) in,Assessed
276405,Hyperbiliverdinemia,BLVRA,biliverdin reductase A,Disease-causing germline mutation(s) in,Assessed
3250,Proximal symphalangism,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
3250,Proximal symphalangism,NOG,noggin,Disease-causing germline mutation(s) in,Assessed
3255,Filippi syndrome,CKAP2L,cytoskeleton associated protein 2 like,Disease-causing germline mutation(s) (loss of function) in,Assessed
276556,Hyperinsulinism due to UCP2 deficiency,UCP2,uncoupling protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
276432,Ogden syndrome,NAA10,"N-alpha-acetyltransferase 10, NatA catalytic subunit",Disease-causing germline mutation(s) in,Assessed
3253,Cleft lip/palate-ectodermal dysplasia syndrome,NECTIN1,nectin cell adhesion molecule 1,Disease-causing germline mutation(s) in,Assessed
276435,Lower motor neuron syndrome with late-adult onset,CHCHD10,coiled-coil-helix-coiled-coil-helix domain containing 10,Disease-causing germline mutation(s) in,Assessed
911,Combined immunodeficiency due to ZAP70 deficiency,ZAP70,zeta chain of T-cell receptor associated protein kinase 70,Disease-causing germline mutation(s) in,Assessed
746,Mitochondrial trifunctional protein deficiency,HADHA,hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,Disease-causing germline mutation(s) in,Assessed
746,Mitochondrial trifunctional protein deficiency,HADHB,hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta,Disease-causing germline mutation(s) in,Assessed
943,Malonic aciduria,MLYCD,malonyl-CoA decarboxylase,Disease-causing germline mutation(s) in,Assessed
621,Autosomal recessive methemoglobinemia,CYB5R3,cytochrome b5 reductase 3,Disease-causing germline mutation(s) in,Assessed
621,Autosomal recessive methemoglobinemia,CYB5A,cytochrome b5 type A,Candidate gene tested in,Not yet assessed
2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,GYS2,glycogen synthase 2,Disease-causing germline mutation(s) in,Assessed
412,Dysbetalipoproteinemia,APOE,apolipoprotein E,Major susceptibility factor in,Assessed
743,Severe hereditary thrombophilia due to congenital protein S deficiency,PROS1,protein S,Disease-causing germline mutation(s) in,Assessed
424,Familial hyperthyroidism due to mutations in TSH receptor,TSHR,thyroid stimulating hormone receptor,Disease-causing germline mutation(s) in,Assessed
325,Congenital factor II deficiency,F2,"coagulation factor II, thrombin",Disease-causing germline mutation(s) in,Assessed
343,Hyperimmunoglobulinemia D with periodic fever,MVK,mevalonate kinase,Disease-causing germline mutation(s) in,Assessed
572,Immunodeficiency by defective expression of MHC class II,RFX5,regulatory factor X5,Disease-causing germline mutation(s) in,Assessed
572,Immunodeficiency by defective expression of MHC class II,RFXANK,regulatory factor X associated ankyrin containing protein,Disease-causing germline mutation(s) in,Assessed
572,Immunodeficiency by defective expression of MHC class II,RFXAP,regulatory factor X associated protein,Disease-causing germline mutation(s) in,Assessed
572,Immunodeficiency by defective expression of MHC class II,CIITA,class II major histocompatibility complex transactivator,Disease-causing germline mutation(s) in,Assessed
1930,Herpes simplex virus encephalitis,UNC93B1,unc-93B1 regulator of TLR signaling,Major susceptibility factor in,Assessed
1930,Herpes simplex virus encephalitis,TLR3,toll like receptor 3,Major susceptibility factor in,Assessed
1930,Herpes simplex virus encephalitis,TICAM1,TIR domain containing adaptor molecule 1,Major susceptibility factor in,Assessed
1930,Herpes simplex virus encephalitis,TRAF3,TNF receptor associated factor 3,Major susceptibility factor in,Assessed
1930,Herpes simplex virus encephalitis,TBK1,TANK binding kinase 1,Major susceptibility factor in,Assessed
158,Systemic primary carnitine deficiency,SLC22A5,solute carrier family 22 member 5,Disease-causing germline mutation(s) in,Assessed
2056,Essential fructosuria,KHK,ketohexokinase,Disease-causing germline mutation(s) in,Assessed
206436,Infantile Krabbe disease,PSAP,prosaposin,Disease-causing germline mutation(s) in,Assessed
206436,Infantile Krabbe disease,GALC,galactosylceramidase,Disease-causing germline mutation(s) in,Assessed
820,Sneddon syndrome,ADA2,adenosine deaminase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
1945,Self-limited epilepsy with centrotemporal spikes,GABRG2,gamma-aminobutyric acid type A receptor subunit gamma2,Disease-causing germline mutation(s) in,Assessed
1945,Self-limited epilepsy with centrotemporal spikes,GRIN2A,glutamate ionotropic receptor NMDA type subunit 2A,Disease-causing germline mutation(s) in,Assessed
1945,Self-limited epilepsy with centrotemporal spikes,SRPX2,sushi repeat containing protein X-linked 2,Candidate gene tested in,Not yet assessed
832,Succinyl-CoA:3-oxoacid CoA transferase deficiency,OXCT1,3-oxoacid CoA-transferase 1,Disease-causing germline mutation(s) in,Assessed
6,3-methylcrotonyl-CoA carboxylase deficiency,MCCC1,methylcrotonyl-CoA carboxylase subunit 1,Disease-causing germline mutation(s) in,Assessed
6,3-methylcrotonyl-CoA carboxylase deficiency,MCCC2,methylcrotonyl-CoA carboxylase subunit 2,Disease-causing germline mutation(s) in,Assessed
20,3-hydroxy-3-methylglutaric aciduria,HMGCL,3-hydroxy-3-methylglutaryl-CoA lyase,Disease-causing germline mutation(s) in,Assessed
714,Hemolytic anemia due to diphosphoglycerate mutase deficiency,BPGM,bisphosphoglycerate mutase,Disease-causing germline mutation(s) in,Assessed
712,Hemolytic anemia due to glucophosphate isomerase deficiency,GPI,glucose-6-phosphate isomerase,Disease-causing germline mutation(s) in,Assessed
206546,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,DMD,dystrophin,Disease-causing germline mutation(s) in,Assessed
206554,Fukutin-related limb-girdle muscular dystrophy R13,FKTN,fukutin,Disease-causing germline mutation(s) in,Assessed
206549,Anoctamin-5-related limb-girdle muscular dystrophy R12,ANO5,anoctamin 5,Disease-causing germline mutation(s) in,Assessed
206564,POMGNT1-related limb-girdle muscular dystrophy R15,POMGNT1,"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",Disease-causing germline mutation(s) in,Assessed
206559,POMT2-related limb-girdle muscular dystrophy R14,POMT2,protein O-mannosyltransferase 2,Disease-causing germline mutation(s) in,Assessed
206580,Autosomal recessive lower motor neuron disease with childhood onset,PLEKHG5,pleckstrin homology and RhoGEF domain containing G5,Disease-causing germline mutation(s) in,Assessed
206443,Late-infantile/juvenile Krabbe disease,GALC,galactosylceramidase,Disease-causing germline mutation(s) in,Assessed
206448,Adult Krabbe disease,GALC,galactosylceramidase,Disease-causing germline mutation(s) in,Assessed
2680,Hypomyelination neuropathy-arthrogryposis syndrome,CNTNAP1,contactin associated protein 1,Disease-causing germline mutation(s) in,Assessed
2680,Hypomyelination neuropathy-arthrogryposis syndrome,ADCY6,adenylate cyclase 6,Disease-causing germline mutation(s) in,Assessed
2680,Hypomyelination neuropathy-arthrogryposis syndrome,LGI4,leucine rich repeat LGI family member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
633,Laron syndrome,GHR,growth hormone receptor,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,CCDC141,coiled-coil domain containing 141,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,PROK2,prokineticin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,PROKR2,prokineticin receptor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,CHD7,chromodomain helicase DNA binding protein 7,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,SOX10,SRY-box transcription factor 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,HESX1,HESX homeobox 1,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,ANOS1,anosmin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,WDR11,WD repeat domain 11,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,HS6ST1,heparan sulfate 6-O-sulfotransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,SEMA3A,semaphorin 3A,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,IL17RD,interleukin 17 receptor D,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,FGF17,fibroblast growth factor 17,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,DUSP6,dual specificity phosphatase 6,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,SPRY4,sprouty RTK signaling antagonist 4,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,FLRT3,fibronectin leucine rich transmembrane protein 3,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,FEZF1,FEZ family zinc finger 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,DCC,DCC netrin 1 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
478,Kallmann syndrome,NDNF,neuron derived neurotrophic factor,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,TACR3,tachykinin receptor 3,Disease-causing germline mutation(s) in,Assessed
478,Kallmann syndrome,CCDC141,coiled-coil domain containing 141,Major susceptibility factor in,Assessed
822,Hereditary spherocytosis,SLC4A1,solute carrier family 4 member 1 (Diego blood group),Disease-causing germline mutation(s) in,Assessed
822,Hereditary spherocytosis,SPTA1,"spectrin alpha, erythrocytic 1",Disease-causing germline mutation(s) in,Assessed
822,Hereditary spherocytosis,SPTB,"spectrin beta, erythrocytic",Disease-causing germline mutation(s) in,Assessed
822,Hereditary spherocytosis,ANK1,ankyrin 1,Disease-causing germline mutation(s) in,Assessed
822,Hereditary spherocytosis,EPB42,erythrocyte membrane protein band 4.2,Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,XPA,"XPA, DNA damage recognition and repair factor",Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,ERCC3,"ERCC excision repair 3, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,XPC,"XPC complex subunit, DNA damage recognition and repair factor",Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,DDB2,damage specific DNA binding protein 2,Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,ERCC4,"ERCC excision repair 4, endonuclease catalytic subunit",Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,ERCC5,"ERCC excision repair 5, endonuclease",Disease-causing germline mutation(s) in,Assessed
910,Xeroderma pigmentosum,ERCC2,"ERCC excision repair 2, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
229,Familial aortic dissection,MYH11,myosin heavy chain 11,Candidate gene tested in,Not yet assessed
777,X-linked non-syndromic intellectual disability,STEEP1,STING1 ER exit protein 1,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,CASK,calcium/calmodulin dependent serine protein kinase,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,RPS6KA3,ribosomal protein S6 kinase A3,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,ARX,aristaless related homeobox,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,DMD,dystrophin,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,FTSJ1,FtsJ RNA 2'-O-methyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
777,X-linked non-syndromic intellectual disability,GDI1,GDP dissociation inhibitor 1,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,MED12,mediator complex subunit 12,Candidate gene tested in,Not yet assessed
777,X-linked non-syndromic intellectual disability,UPF3B,UPF3B regulator of nonsense mediated mRNA decay,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,AGTR2,angiotensin II receptor type 2,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,DLG3,discs large MAGUK scaffold protein 3,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,IL1RAPL1,interleukin 1 receptor accessory protein like 1,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,TSPAN7,tetraspanin 7,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,ARHGEF6,Rac/Cdc42 guanine nucleotide exchange factor 6,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,ZNF81,zinc finger protein 81,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,SYP,synaptophysin,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,ZNF711,zinc finger protein 711,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,RAB39B,"RAB39B, member RAS oncogene family",Disease-causing germline mutation(s) (loss of function) in,Assessed
777,X-linked non-syndromic intellectual disability,HCFC1,host cell factor C1,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,ALG13,ALG13 UDP-N-acetylglucosaminyltransferase subunit,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,MID2,midline 2,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,PTCHD1,patched domain containing 1,Candidate gene tested in,Not yet assessed
777,X-linked non-syndromic intellectual disability,USP9X,ubiquitin specific peptidase 9 X-linked,Disease-causing germline mutation(s) (loss of function) in,Assessed
777,X-linked non-syndromic intellectual disability,ACSL4,acyl-CoA synthetase long chain family member 4,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,MECP2,methyl-CpG binding protein 2,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,SLC9A7,solute carrier family 9 member A7,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,CNKSR2,connector enhancer of kinase suppressor of Ras 2,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,FRMPD4,FERM and PDZ domain containing 4,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,USP27X,ubiquitin specific peptidase 27 X-linked,Disease-causing germline mutation(s) in,Assessed
777,X-linked non-syndromic intellectual disability,CLCN4,chloride voltage-gated channel 4,Disease-causing germline mutation(s) in,Assessed
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,PKLR,pyruvate kinase L/R,Disease-causing germline mutation(s) in,Assessed
206599,Isolated asymptomatic elevation of creatine phosphokinase,ANO5,anoctamin 5,Disease-causing germline mutation(s) in,Assessed
206599,Isolated asymptomatic elevation of creatine phosphokinase,DAG1,dystroglycan 1,Disease-causing germline mutation(s) in,Assessed
206599,Isolated asymptomatic elevation of creatine phosphokinase,CAV3,caveolin 3,Disease-causing germline mutation(s) in,Assessed
3206,Stüve-Wiedemann syndrome,LIFR,LIF receptor subunit alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
206583,Adult polyglucosan body disease,GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,USP45,ubiquitin specific peptidase 45,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,TUBB4B,tubulin beta 4B class IVb,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,SPATA7,spermatogenesis associated 7,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,GDF6,growth differentiation factor 6,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,IFT140,intraflagellar transport 140,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,NMNAT1,nicotinamide nucleotide adenylyltransferase 1,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,RD3,RD3 regulator of GUCY2D,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,RDH12,retinol dehydrogenase 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
65,Leber congenital amaurosis,RPE65,retinoid isomerohydrolase RPE65,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,RPGRIP1,RPGR interacting protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
65,Leber congenital amaurosis,CEP290,centrosomal protein 290,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,AIPL1,AIP like 1 HSP90 co-chaperone,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,TULP1,TUB like protein 1,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,CRB1,crumbs cell polarity complex component 1,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,CRX,cone-rod homeobox,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,GUCY2D,"guanylate cyclase 2D, retinal",Disease-causing germline mutation(s) (loss of function) in,Assessed
65,Leber congenital amaurosis,IMPDH1,inosine monophosphate dehydrogenase 1,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,IQCB1,IQ motif containing B1,Disease-causing germline mutation(s) (loss of function) in,Assessed
65,Leber congenital amaurosis,LCA5,lebercilin LCA5,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,KCNJ13,potassium inwardly rectifying channel subfamily J member 13,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,LRAT,lecithin retinol acyltransferase,Disease-causing germline mutation(s) in,Assessed
65,Leber congenital amaurosis,PCYT1A,"phosphate cytidylyltransferase 1A, choline",Disease-causing germline mutation(s) (loss of function) in,Assessed
321,Multiple osteochondromas,EXT1,exostosin glycosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
321,Multiple osteochondromas,EXT2,exostosin glycosyltransferase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
144,Lynch syndrome,MSH6,mutS homolog 6,Disease-causing germline mutation(s) in,Assessed
144,Lynch syndrome,KRAS,"KRAS proto-oncogene, GTPase",Biomarker tested in,Assessed
144,Lynch syndrome,PMS1,"PMS1 homolog 1, mismatch repair system component",Candidate gene tested in,Not yet assessed
144,Lynch syndrome,TGFBR2,transforming growth factor beta receptor 2,Candidate gene tested in,Not yet assessed
144,Lynch syndrome,MSH2,mutS homolog 2,Disease-causing germline mutation(s) in,Assessed
144,Lynch syndrome,EPCAM,epithelial cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
144,Lynch syndrome,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Biomarker tested in,Assessed
144,Lynch syndrome,PMS2,"PMS1 homolog 2, mismatch repair system component",Disease-causing germline mutation(s) in,Assessed
144,Lynch syndrome,MLH1,mutL homolog 1,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS1,Bardet-Biedl syndrome 1,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS10,Bardet-Biedl syndrome 10,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS2,Bardet-Biedl syndrome 2,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS4,Bardet-Biedl syndrome 4,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS5,Bardet-Biedl syndrome 5,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS7,Bardet-Biedl syndrome 7,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBS9,Bardet-Biedl syndrome 9,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,CEP290,centrosomal protein 290,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,TRIM32,tripartite motif containing 32,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,TTC8,tetratricopeptide repeat domain 8,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,ARL6,ARF like GTPase 6,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,MKKS,MKKS centrosomal shuttling protein,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,MKS1,MKS transition zone complex subunit 1,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,NPHP1,nephrocystin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,BBS12,Bardet-Biedl syndrome 12,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,SDCCAG8,SHH signaling and ciliogenesis regulator SDCCAG8,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,WDPCP,WD repeat containing planar cell polarity effector,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,LZTFL1,leucine zipper transcription factor like 1,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,IFT172,intraflagellar transport 172,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,BBIP1,BBSome interacting protein 1,Disease-causing germline mutation(s) in,Assessed
110,Bardet-Biedl syndrome,IFT27,intraflagellar transport 27,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,IFT74,intraflagellar transport 74,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,CEP19,centrosomal protein 19,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,SCAPER,S-phase cyclin A associated protein in the ER,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,CFAP418,cilia and flagella associated protein 418,Disease-causing germline mutation(s) (loss of function) in,Assessed
110,Bardet-Biedl syndrome,SCLT1,sodium channel and clathrin linker 1,Disease-causing germline mutation(s) in,Assessed
3095,Atypical Rett syndrome,MECP2,methyl-CpG binding protein 2,Disease-causing germline mutation(s) in,Assessed
3095,Atypical Rett syndrome,NTNG1,netrin G1,Disease-causing germline mutation(s) in,Assessed
3095,Atypical Rett syndrome,CDKL5,cyclin dependent kinase like 5,Disease-causing germline mutation(s) in,Assessed
3095,Atypical Rett syndrome,SMC1A,structural maintenance of chromosomes 1A,Disease-causing germline mutation(s) in,Assessed
3095,Atypical Rett syndrome,GABBR2,gamma-aminobutyric acid type B receptor subunit 2,Disease-causing germline mutation(s) in,Assessed
1114,Aplasia cutis congenita,PLEC,plectin,Disease-causing germline mutation(s) in,Assessed
1114,Aplasia cutis congenita,ITGB4,integrin subunit beta 4,Disease-causing germline mutation(s) in,Assessed
1114,Aplasia cutis congenita,BMS1,BMS1 ribosome biogenesis factor,Disease-causing germline mutation(s) in,Assessed
1114,Aplasia cutis congenita,DLL4,delta like canonical Notch ligand 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
1114,Aplasia cutis congenita,UBA2,ubiquitin like modifier activating enzyme 2,Disease-causing germline mutation(s) in,Assessed
1272,Aymé-Gripp syndrome,MAF,MAF bZIP transcription factor,Disease-causing germline mutation(s) in,Assessed
208513,Spinocerebellar ataxia type 29,ITPR1,"inositol 1,4,5-trisphosphate receptor type 1",Disease-causing germline mutation(s) in,Assessed
208447,Bilateral generalized polymicrogyria,GRIN1,glutamate ionotropic receptor NMDA type subunit 1,Disease-causing germline mutation(s) in,Assessed
3051,Nicolaides-Baraitser syndrome,SMARCA2,SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2,Disease-causing germline mutation(s) in,Assessed
208441,Bilateral parasagittal parieto-occipital polymicrogyria,FIG4,FIG4 phosphoinositide 5-phosphatase,Disease-causing germline mutation(s) (loss of function) in,Assessed
2963,"Progeroid syndrome, Petty type",SLC25A24,solute carrier family 25 member 24,Disease-causing germline mutation(s) in,Assessed
1541,"Craniosynostosis, Boston type",MSX2,msh homeobox 2,Disease-causing germline mutation(s) in,Assessed
1415,Hardikar syndrome,MED12,mediator complex subunit 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
2151,Hirschsprung disease-ganglioneuroblastoma syndrome,PHOX2B,paired like homeobox 2B,Major susceptibility factor in,Assessed
209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,VAPB,VAMP associated protein B and C,Disease-causing germline mutation(s) in,Assessed
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,DYNC1H1,dynein cytoplasmic 1 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
210110,Intermediate osteopetrosis,TCIRG1,"T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",Disease-causing germline mutation(s) in,Assessed
210110,Intermediate osteopetrosis,CLCN7,chloride voltage-gated channel 7,Disease-causing germline mutation(s) in,Assessed
210110,Intermediate osteopetrosis,PLEKHM1,pleckstrin homology and RUN domain containing M1,Disease-causing germline mutation(s) in,Assessed
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,IL1RN,interleukin 1 receptor antagonist,Disease-causing germline mutation(s) in,Assessed
209981,IRIDA syndrome,TMPRSS6,transmembrane serine protease 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
210122,Congenital alveolar capillary dysplasia,FOXF1,forkhead box F1,Disease-causing germline mutation(s) in,Assessed
210128,Urocanic aciduria,UROC1,urocanate hydratase 1,Disease-causing germline mutation(s) in,Assessed
2254,Pontocerebellar hypoplasia type 1,AGTPBP1,ATP/GTP binding carboxypeptidase 1,Disease-causing germline mutation(s) in,Assessed
2254,Pontocerebellar hypoplasia type 1,VRK1,VRK serine/threonine kinase 1,Disease-causing germline mutation(s) in,Assessed
2254,Pontocerebellar hypoplasia type 1,EXOSC3,exosome component 3,Disease-causing germline mutation(s) in,Assessed
2254,Pontocerebellar hypoplasia type 1,EXOSC8,exosome component 8,Disease-causing germline mutation(s) in,Assessed
2254,Pontocerebellar hypoplasia type 1,SLC25A46,solute carrier family 25 member 46,Disease-causing germline mutation(s) (loss of function) in,Assessed
2254,Pontocerebellar hypoplasia type 1,EXOSC9,exosome component 9,Disease-causing germline mutation(s) in,Assessed
209951,Autosomal spastic paraplegia type 18,ERLIN2,ER lipid raft associated 2,Disease-causing germline mutation(s) in,Assessed
209967,Episodic ataxia type 6,SLC1A3,solute carrier family 1 member 3,Disease-causing germline mutation(s) in,Assessed
209908,Isolated childhood apraxia of speech,FOXP2,forkhead box P2,Disease-causing germline mutation(s) in,Assessed
209905,Brain-lung-thyroid syndrome,NKX2-1,NK2 homeobox 1,Disease-causing germline mutation(s) in,Assessed
209902,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,CYP7A1,cytochrome P450 family 7 subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
209932,Cone dystrophy with supernormal rod response,KCNV2,potassium voltage-gated channel modifier subfamily V member 2,Disease-causing germline mutation(s) in,Assessed
209916,Extraskeletal myxoid chondrosarcoma,TFG,trafficking from ER to golgi regulator,Part of a fusion gene in,Assessed
209916,Extraskeletal myxoid chondrosarcoma,EWSR1,EWS RNA binding protein 1,Part of a fusion gene in,Assessed
209916,Extraskeletal myxoid chondrosarcoma,TCF12,transcription factor 12,Part of a fusion gene in,Assessed
209916,Extraskeletal myxoid chondrosarcoma,NR4A3,nuclear receptor subfamily 4 group A member 3,Part of a fusion gene in,Assessed
209916,Extraskeletal myxoid chondrosarcoma,TAF15,TATA-box binding protein associated factor 15,Part of a fusion gene in,Assessed
209370,MECP2-related severe neonatal encephalopathy,MECP2,methyl-CpG binding protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
209867,Autosomal dominant rhegmatogenous retinal detachment,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
210571,Dystonia 16,PRKRA,protein activator of interferon induced protein kinase EIF2AK2,Disease-causing germline mutation(s) in,Assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,CASQ2,calsequestrin 2,Disease-causing germline mutation(s) in,Assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,TRDN,triadin,Disease-causing germline mutation(s) in,Assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,RYR2,ryanodine receptor 2,Disease-causing germline mutation(s) in,Assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,CALM1,calmodulin 1,Disease-causing germline mutation(s) in,Assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,CALM2,calmodulin 2,Candidate gene tested in,Not yet assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,CALM3,calmodulin 3,Candidate gene tested in,Not yet assessed
3286,Catecholaminergic polymorphic ventricular tachycardia,TECRL,"trans-2,3-enoyl-CoA reductase like",Disease-causing germline mutation(s) in,Assessed
210548,Macrocephaly-intellectual disability-autism syndrome,PTEN,phosphatase and tensin homolog,Disease-causing germline mutation(s) in,Assessed
210548,Macrocephaly-intellectual disability-autism syndrome,HEPACAM,hepatic and glial cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
210159,Adult hepatocellular carcinoma,AXIN1,axin 1,Disease-causing somatic mutation(s) in,Assessed
210159,Adult hepatocellular carcinoma,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
210159,Adult hepatocellular carcinoma,CASP8,caspase 8,Disease-causing somatic mutation(s) in,Assessed
210159,Adult hepatocellular carcinoma,TP53,tumor protein p53,Candidate gene tested in,Not yet assessed
210159,Adult hepatocellular carcinoma,PDGFRL,platelet derived growth factor receptor like,Candidate gene tested in,Not yet assessed
210159,Adult hepatocellular carcinoma,CTNNB1,catenin beta 1,Candidate gene tested in,Not yet assessed
210159,Adult hepatocellular carcinoma,TSC2,TSC complex subunit 2,Candidate gene tested in,Assessed
210159,Adult hepatocellular carcinoma,TSC1,TSC complex subunit 1,Candidate gene tested in,Assessed
210159,Adult hepatocellular carcinoma,EGF,epidermal growth factor,Major susceptibility factor in,Assessed
210163,"Congenital lethal myopathy, Compton-North type",CNTN1,contactin 1,Disease-causing germline mutation(s) in,Assessed
3240,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,KARS1,lysyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
210141,Inherited congenital spastic tetraplegia,KANK1,KN motif and ankyrin repeat domains 1,Disease-causing germline mutation(s) in,Assessed
210141,Inherited congenital spastic tetraplegia,GAD1,glutamate decarboxylase 1,Disease-causing germline mutation(s) in,Assessed
210141,Inherited congenital spastic tetraplegia,ADD3,adducin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
210144,"Lethal polymalformative syndrome, Boissel type",FTO,FTO alpha-ketoglutarate dependent dioxygenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
1063,Tufted angioma,GNA14,G protein subunit alpha 14,Disease-causing somatic mutation(s) in,Assessed
211067,Episodic ataxia type 5,CACNB4,calcium voltage-gated channel auxiliary subunit beta 4,Disease-causing germline mutation(s) in,Assessed
211017,Spinocerebellar ataxia type 30,SCA30,spinocerebellar ataxia 30,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,MAGI2,"membrane associated guanylate kinase, WW and PDZ domain containing 2",Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,AVIL,advillin,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,DAAM2,dishevelled associated activator of morphogenesis 2,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,KANK2,KN motif and ankyrin repeat domains 2,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,LAMA5,laminin subunit alpha 5,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,ACTN4,actinin alpha 4,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,TRPC6,transient receptor potential cation channel subfamily C member 6,Disease-causing germline mutation(s) (gain of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,WT1,WT1 transcription factor,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,COL4A3,collagen type IV alpha 3 chain,Modifying germline mutation in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NPHS1,"NPHS1 adhesion molecule, nephrin",Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NPHS2,"NPHS2 stomatin family member, podocin",Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,PAX2,paired box 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,PLCE1,phospholipase C epsilon 1,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,INF2,"inverted formin, FH2 and WH2 domain containing",Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,CD2AP,CD2 associated protein,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,MYO1E,myosin IE,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,PTPRO,protein tyrosine phosphatase receptor type O,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,ARHGAP24,Rho GTPase activating protein 24,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,COQ8B,coenzyme Q8B,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,ANLN,"anillin, actin binding protein",Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,CRB2,crumbs cell polarity complex component 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP107,nucleoporin 107,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP93,nucleoporin 93,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP205,nucleoporin 205,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,GAPVD1,GTPase activating protein and VPS9 domains 1,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP85,nucleoporin 85,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP37,nucleoporin 37,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP160,nucleoporin 160,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,NUP133,nucleoporin 133,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,TBC1D8B,TBC1 domain family member 8B,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,ANKFY1,ankyrin repeat and FYVE domain containing 1,Disease-causing germline mutation(s) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,EMP2,epithelial membrane protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,ARHGDIA,Rho GDP dissociation inhibitor alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
656,Hereditary steroid-resistant nephrotic syndrome,APOL1,apolipoprotein L1,Major susceptibility factor in,Not yet assessed
2122,Kaposiform hemangioendothelioma,GNA14,G protein subunit alpha 14,Disease-causing somatic mutation(s) in,Assessed
2591,Infantile myofibromatosis,NOTCH3,notch receptor 3,Disease-causing germline mutation(s) in,Assessed
2591,Infantile myofibromatosis,PDGFRB,platelet derived growth factor receptor beta,Disease-causing germline mutation(s) in,Assessed
35,Propionic acidemia,PCCA,propionyl-CoA carboxylase subunit alpha,Disease-causing germline mutation(s) in,Assessed
35,Propionic acidemia,PCCB,propionyl-CoA carboxylase subunit beta,Disease-causing germline mutation(s) in,Assessed
663,Mitochondrial DNA-related progressive external ophthalmoplegia,MT-TS1,mitochondrially encoded tRNA-Ser (UCN) 1,Disease-causing germline mutation(s) in,Assessed
663,Mitochondrial DNA-related progressive external ophthalmoplegia,MT-TL2,mitochondrially encoded tRNA-Leu (CUN) 2,Disease-causing germline mutation(s) in,Assessed
663,Mitochondrial DNA-related progressive external ophthalmoplegia,MT-TN,mitochondrially encoded tRNA-Asn (AAU/C),Disease-causing germline mutation(s) in,Assessed
663,Mitochondrial DNA-related progressive external ophthalmoplegia,MT-TL1,mitochondrially encoded tRNA-Leu (UUA/G) 1,Candidate gene tested in,Not yet assessed
220,Denys-Drash syndrome,WT1,WT1 transcription factor,Disease-causing germline mutation(s) in,Assessed
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,HADHA,hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha,Disease-causing germline mutation(s) in,Assessed
25,Glutaryl-CoA dehydrogenase deficiency,GCDH,glutaryl-CoA dehydrogenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
618,Familial melanoma,CDK4,cyclin dependent kinase 4,Major susceptibility factor in,Assessed
618,Familial melanoma,CDKN2A,cyclin dependent kinase inhibitor 2A,Major susceptibility factor in,Assessed
618,Familial melanoma,MITF,melanocyte inducing transcription factor,Major susceptibility factor in,Assessed
618,Familial melanoma,TERT,telomerase reverse transcriptase,Major susceptibility factor in,Assessed
618,Familial melanoma,MC1R,melanocortin 1 receptor,Major susceptibility factor in,Assessed
618,Familial melanoma,BAP1,BRCA1 associated deubiquitinase 1,Major susceptibility factor in,Assessed
618,Familial melanoma,CDKN2B,cyclin dependent kinase inhibitor 2B,Candidate gene tested in,Not yet assessed
618,Familial melanoma,MGMT,O-6-methylguanine-DNA methyltransferase,Major susceptibility factor in,Assessed
618,Familial melanoma,POT1,protection of telomeres 1,Major susceptibility factor in,Assessed
618,Familial melanoma,ACD,ACD shelterin complex subunit and telomerase recruitment factor,Major susceptibility factor in,Assessed
618,Familial melanoma,TERF2IP,TERF2 interacting protein,Major susceptibility factor in,Assessed
818,Smith-Lemli-Opitz syndrome,DHCR7,7-dehydrocholesterol reductase,Disease-causing germline mutation(s) (loss of function) in,Assessed
213504,Adenocarcinoma of ovary,INHBA,inhibin subunit beta A,Disease-causing germline mutation(s) in,Assessed
175,Cartilage-hair hypoplasia,RMRP,RNA component of mitochondrial RNA processing endoribonuclease,Disease-causing germline mutation(s) in,Assessed
42,Medium chain acyl-CoA dehydrogenase deficiency,ACADM,acyl-CoA dehydrogenase medium chain,Disease-causing germline mutation(s) in,Assessed
2066,Gamma-aminobutyric acid transaminase deficiency,ABAT,4-aminobutyrate aminotransferase,Disease-causing germline mutation(s) in,Assessed
300,Bifunctional enzyme deficiency,HSD17B4,hydroxysteroid 17-beta dehydrogenase 4,Disease-causing germline mutation(s) in,Assessed
300,Bifunctional enzyme deficiency,EHHADH,enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,Disease-causing germline mutation(s) in,Assessed
213726,Serous carcinoma of the corpus uteri,ERBB2,erb-b2 receptor tyrosine kinase 2,Biomarker tested in,Assessed
213711,Endometrial stromal sarcoma,YWHAE,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,Part of a fusion gene in,Assessed
213711,Endometrial stromal sarcoma,JAZF1,JAZF zinc finger 1,Part of a fusion gene in,Assessed
213711,Endometrial stromal sarcoma,SUZ12,SUZ12 polycomb repressive complex 2 subunit,Part of a fusion gene in,Assessed
213711,Endometrial stromal sarcoma,NUTM2A,NUT family member 2A,Part of a fusion gene in,Assessed
213711,Endometrial stromal sarcoma,NUTM2B,NUT family member 2B,Part of a fusion gene in,Assessed
3261,Autoimmune lymphoproliferative syndrome,CASP10,caspase 10,Disease-causing germline mutation(s) in,Assessed
3261,Autoimmune lymphoproliferative syndrome,FAS,Fas cell surface death receptor,Disease-causing germline mutation(s) in,Assessed
3261,Autoimmune lymphoproliferative syndrome,FAS,Fas cell surface death receptor,Disease-causing somatic mutation(s) in,Assessed
3261,Autoimmune lymphoproliferative syndrome,FASLG,Fas ligand,Disease-causing germline mutation(s) in,Assessed
2849,Perlman syndrome,DIS3L2,DIS3 like 3'-5' exoribonuclease 2,Disease-causing germline mutation(s) in,Assessed
747,Autoimmune pulmonary alveolar proteinosis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
2953,Musculocontractural Ehlers-Danlos syndrome,CHST14,carbohydrate sulfotransferase 14,Disease-causing germline mutation(s) (loss of function) in,Assessed
2953,Musculocontractural Ehlers-Danlos syndrome,DSE,dermatan sulfate epimerase,Disease-causing germline mutation(s) (loss of function) in,Assessed
782,Axenfeld-Rieger syndrome,PITX2,paired like homeodomain 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
782,Axenfeld-Rieger syndrome,PITX2,paired like homeodomain 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
782,Axenfeld-Rieger syndrome,FOXC1,forkhead box C1,Disease-causing germline mutation(s) in,Assessed
216718,Isolated congenitally uncorrected transposition of the great arteries,ZIC3,Zic family zinc finger 3,Major susceptibility factor in,Assessed
216718,Isolated congenitally uncorrected transposition of the great arteries,GDF1,growth differentiation factor 1,Major susceptibility factor in,Not yet assessed
216718,Isolated congenitally uncorrected transposition of the great arteries,MED13L,mediator complex subunit 13L,Major susceptibility factor in,Not yet assessed
216718,Isolated congenitally uncorrected transposition of the great arteries,CFC1,"cryptic, EGF-CFC family member 1",Candidate gene tested in,Not yet assessed
216729,Congenitally uncorrected transposition of the great arteries with cardiac malformation,CFC1,"cryptic, EGF-CFC family member 1",Candidate gene tested in,Not yet assessed
882,Tyrosinemia type 1,FAH,fumarylacetoacetate hydrolase,Disease-causing germline mutation(s) in,Assessed
216796,Osteogenesis imperfecta type 1,P4HB,prolyl 4-hydroxylase subunit beta,Disease-causing germline mutation(s) in,Assessed
216796,Osteogenesis imperfecta type 1,SEC24D,"SEC24 homolog D, COPII component",Disease-causing germline mutation(s) in,Assessed
216796,Osteogenesis imperfecta type 1,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
216796,Osteogenesis imperfecta type 1,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
216796,Osteogenesis imperfecta type 1,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
216804,Osteogenesis imperfecta type 2,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
216804,Osteogenesis imperfecta type 2,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
216804,Osteogenesis imperfecta type 2,P3H1,prolyl 3-hydroxylase 1,Disease-causing germline mutation(s) in,Assessed
216804,Osteogenesis imperfecta type 2,CRTAP,cartilage associated protein,Disease-causing germline mutation(s) in,Assessed
216804,Osteogenesis imperfecta type 2,PPIB,peptidylprolyl isomerase B,Disease-causing germline mutation(s) in,Assessed
216804,Osteogenesis imperfecta type 2,MESD,mesoderm development LRP chaperone,Disease-causing germline mutation(s) (loss of function) in,Assessed
216812,Osteogenesis imperfecta type 3,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,P3H1,prolyl 3-hydroxylase 1,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,CRTAP,cartilage associated protein,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,CREB3L1,cAMP responsive element binding protein 3 like 1,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,PPIB,peptidylprolyl isomerase B,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,SERPINH1,serpin family H member 1,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,FKBP10,FKBP prolyl isomerase 10,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,SERPINF1,serpin family F member 1,Disease-causing germline mutation(s) in,Assessed
216812,Osteogenesis imperfecta type 3,WNT1,Wnt family member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
216812,Osteogenesis imperfecta type 3,TENT5A,terminal nucleotidyltransferase 5A,Disease-causing germline mutation(s) (loss of function) in,Assessed
216812,Osteogenesis imperfecta type 3,BMP1,bone morphogenetic protein 1,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,TMEM38B,transmembrane protein 38B,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,CRTAP,cartilage associated protein,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,PPIB,peptidylprolyl isomerase B,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,FKBP10,FKBP prolyl isomerase 10,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,SP7,Sp7 transcription factor,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,SERPINF1,serpin family F member 1,Disease-causing germline mutation(s) in,Assessed
216820,Osteogenesis imperfecta type 4,WNT1,Wnt family member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
216820,Osteogenesis imperfecta type 4,SPARC,secreted protein acidic and cysteine rich,Disease-causing germline mutation(s) in,Assessed
216828,Osteogenesis imperfecta type 5,IFITM5,interferon induced transmembrane protein 5,Disease-causing germline mutation(s) in,Assessed
3474,CHIME syndrome,PIGL,phosphatidylinositol glycan anchor biosynthesis class L,Disease-causing germline mutation(s) in,Assessed
216866,Classic pantothenate kinase-associated neurodegeneration,PANK2,pantothenate kinase 2,Disease-causing germline mutation(s) in,Assessed
216873,Atypical pantothenate kinase-associated neurodegeneration,PANK2,pantothenate kinase 2,Disease-causing germline mutation(s) in,Assessed
216972,"Niemann-Pick disease type C, severe perinatal form",NPC1,NPC intracellular cholesterol transporter 1,Disease-causing germline mutation(s) in,Assessed
216972,"Niemann-Pick disease type C, severe perinatal form",NPC2,NPC intracellular cholesterol transporter 2,Disease-causing germline mutation(s) in,Assessed
216978,"Niemann-Pick disease type C, late infantile neurologic onset",NPC1,NPC intracellular cholesterol transporter 1,Disease-causing germline mutation(s) in,Assessed
216978,"Niemann-Pick disease type C, late infantile neurologic onset",NPC2,NPC intracellular cholesterol transporter 2,Disease-causing germline mutation(s) in,Assessed
361,Familial glucocorticoid deficiency,STAR,steroidogenic acute regulatory protein,Candidate gene tested in,Not yet assessed
361,Familial glucocorticoid deficiency,MC2R,melanocortin 2 receptor,Disease-causing germline mutation(s) in,Assessed
361,Familial glucocorticoid deficiency,MRAP,melanocortin 2 receptor accessory protein,Disease-causing germline mutation(s) in,Assessed
361,Familial glucocorticoid deficiency,TXNRD2,thioredoxin reductase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
361,Familial glucocorticoid deficiency,NNT,nicotinamide nucleotide transhydrogenase,Disease-causing germline mutation(s) in,Assessed
216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",NPC1,NPC intracellular cholesterol transporter 1,Disease-causing germline mutation(s) in,Assessed
216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",NPC2,NPC intracellular cholesterol transporter 2,Disease-causing germline mutation(s) in,Assessed
216986,"Niemann-Pick disease type C, adult neurologic onset",NPC1,NPC intracellular cholesterol transporter 1,Disease-causing germline mutation(s) in,Assessed
216986,"Niemann-Pick disease type C, adult neurologic onset",NPC2,NPC intracellular cholesterol transporter 2,Disease-causing germline mutation(s) in,Assessed
216981,"Niemann-Pick disease type C, juvenile neurologic onset",NPC1,NPC intracellular cholesterol transporter 1,Disease-causing germline mutation(s) in,Assessed
216981,"Niemann-Pick disease type C, juvenile neurologic onset",NPC2,NPC intracellular cholesterol transporter 2,Disease-causing germline mutation(s) in,Assessed
217012,Spinocerebellar ataxia type 31,BEAN1,brain expressed associated with NEDD4 1,Disease-causing germline mutation(s) in,Assessed
2088,Fanconi-Bickel syndrome,SLC2A2,solute carrier family 2 member 2,Disease-causing germline mutation(s) in,Assessed
217266,BNAR syndrome,FREM1,FRAS1 related extracellular matrix 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
179,Birdshot chorioretinopathy,HLA-A,"major histocompatibility complex, class I, A",Major susceptibility factor in,Assessed
2584,Classic mycosis fungoides,CTLA4,cytotoxic T-lymphocyte associated protein 4,Part of a fusion gene in,Assessed
2584,Classic mycosis fungoides,TNFRSF1B,TNF receptor superfamily member 1B,Disease-causing somatic mutation(s) in,Assessed
2584,Classic mycosis fungoides,CD28,CD28 molecule,Part of a fusion gene in,Assessed
217093,"Mucopolysaccharidosis type 2, attenuated form",IDS,iduronate 2-sulfatase,Disease-causing germline mutation(s) in,Assessed
3162,Sézary syndrome,CTLA4,cytotoxic T-lymphocyte associated protein 4,Part of a fusion gene in,Assessed
3162,Sézary syndrome,TNFRSF1B,TNF receptor superfamily member 1B,Disease-causing somatic mutation(s) in,Assessed
3162,Sézary syndrome,CD28,CD28 molecule,Part of a fusion gene in,Assessed
217085,"Mucopolysaccharidosis type 2, severe form",IDS,iduronate 2-sulfatase,Disease-causing germline mutation(s) in,Assessed
1451,CINCA syndrome,NLRP3,NLR family pyrin domain containing 3,Disease-causing germline mutation(s) in,Assessed
217059,Isolated nail clubbing,HPGD,15-hydroxyprostaglandin dehydrogenase,Disease-causing germline mutation(s) in,Assessed
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,GDAP1,ganglioside induced differentiation associated protein 1,Disease-causing germline mutation(s) in,Assessed
217335,RIN2 syndrome,RIN2,Ras and Rab interactor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
2745,Opitz GBBB syndrome,MID1,midline 1,Disease-causing germline mutation(s) in,Assessed
217330,REN-related autosomal dominant tubulointerstitial kidney disease,REN,renin,Disease-causing germline mutation(s) in,Assessed
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,ATP1A3,ATPase Na+/K+ transporting subunit alpha 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
217566,Chronic respiratory distress with surfactant metabolism deficiency,SFTPC,surfactant protein C,Disease-causing germline mutation(s) in,Assessed
217563,Neonatal acute respiratory distress syndrome,SFTPB,surfactant protein B,Disease-causing germline mutation(s) (loss of function) in,Assessed
217563,Neonatal acute respiratory distress syndrome,ABCA3,ATP binding cassette subfamily A member 3,Disease-causing germline mutation(s) in,Assessed
217407,Hereditary hypotrichosis with recurrent skin vesicles,DSC3,desmocollin 3,Disease-causing germline mutation(s) in,Assessed
217467,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,HRG,histidine rich glycoprotein,Disease-causing germline mutation(s) in,Assessed
217390,Combined immunodeficiency due to DOCK8 deficiency,DOCK8,dedicator of cytokinesis 8,Disease-causing germline mutation(s) in,Assessed
217385,17p13.3 microduplication syndrome,PAFAH1B1,platelet activating factor acetylhydrolase 1b regulatory subunit 1,Role in the phenotype of,Assessed
217385,17p13.3 microduplication syndrome,YWHAE,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,Role in the phenotype of,Assessed
217396,Progressive polyneuropathy with bilateral striatal necrosis,SLC25A19,solute carrier family 25 member 19,Disease-causing germline mutation(s) in,Assessed
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,TRMU,tRNA mitochondrial 2-thiouridylase,Disease-causing germline mutation(s) in,Assessed
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,FOLR1,folate receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
217377,Microduplication Xp11.22p11.23 syndrome,IQSEC2,IQ motif and Sec7 domain ArfGEF 2,Role in the phenotype of,Assessed
217622,Sensorineural deafness with dilated cardiomyopathy,EYA4,EYA transcriptional coactivator and phosphatase 4,Disease-causing germline mutation(s) in,Assessed
331,Congenital factor XIII deficiency,F13A1,coagulation factor XIII A chain,Disease-causing germline mutation(s) in,Assessed
331,Congenital factor XIII deficiency,F13B,coagulation factor XIII B chain,Disease-causing germline mutation(s) in,Assessed
159,Carnitine-acylcarnitine translocase deficiency,SLC25A20,solute carrier family 25 member 20,Disease-causing germline mutation(s) in,Assessed
79,Congenital alpha2-antiplasmin deficiency,SERPINF2,serpin family F member 2,Disease-causing germline mutation(s) in,Assessed
2157,Histidinemia,HAL,histidine ammonia-lyase,Disease-causing germline mutation(s) in,Assessed
220402,Limited cutaneous systemic sclerosis,CAV1,caveolin 1,Major susceptibility factor in,Assessed
220402,Limited cutaneous systemic sclerosis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Not yet assessed
220402,Limited cutaneous systemic sclerosis,CCN2,cellular communication network factor 2,Major susceptibility factor in,Not yet assessed
220402,Limited cutaneous systemic sclerosis,IRF5,interferon regulatory factor 5,Major susceptibility factor in,Assessed
220402,Limited cutaneous systemic sclerosis,KIAA0319L,KIAA0319 like,Major susceptibility factor in,Not yet assessed
220402,Limited cutaneous systemic sclerosis,CCR6,C-C motif chemokine receptor 6,Major susceptibility factor in,Assessed
3124,Saccharopinuria,AASS,aminoadipate-semialdehyde synthase,Disease-causing germline mutation(s) in,Assessed
220407,Limited systemic sclerosis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Not yet assessed
220386,Semilobar holoprosencephaly,STAG2,STAG2 cohesin complex component,Disease-causing germline mutation(s) (loss of function) in,Assessed
220386,Semilobar holoprosencephaly,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,SMC1A,structural maintenance of chromosomes 1A,Disease-causing germline mutation(s) (loss of function) in,Assessed
220386,Semilobar holoprosencephaly,STIL,STIL centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,PTCH1,patched 1,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,SIX3,SIX homeobox 3,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,TGIF1,TGFB induced factor homeobox 1,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,ZIC2,Zic family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,CRIPTO,"cripto, EGF-CFC family member",Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,FOXH1,forkhead box H1,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,DISP1,dispatched RND transporter family member 1,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
220386,Semilobar holoprosencephaly,GAS1,growth arrest specific 1,Disease-causing germline mutation(s) in,Assessed
2203,Hyperlysinemia,AASS,aminoadipate-semialdehyde synthase,Disease-causing germline mutation(s) in,Assessed
220393,Diffuse cutaneous systemic sclerosis,CAV1,caveolin 1,Major susceptibility factor in,Assessed
220393,Diffuse cutaneous systemic sclerosis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Not yet assessed
220393,Diffuse cutaneous systemic sclerosis,CCN2,cellular communication network factor 2,Major susceptibility factor in,Not yet assessed
220393,Diffuse cutaneous systemic sclerosis,IRF5,interferon regulatory factor 5,Major susceptibility factor in,Assessed
220393,Diffuse cutaneous systemic sclerosis,CCR6,C-C motif chemokine receptor 6,Major susceptibility factor in,Assessed
332,Congenital intrinsic factor deficiency,CBLIF,cobalamin binding intrinsic factor,Disease-causing germline mutation(s) in,Assessed
220436,Quebec platelet disorder,PLAU,"plasminogen activator, urokinase",Disease-causing germline mutation(s) in,Assessed
2195,Dicarboxylic aminoaciduria,SLC1A1,solute carrier family 1 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
220443,Bleeding diathesis due to thromboxane synthesis deficiency,TBXA2R,thromboxane A2 receptor,Major susceptibility factor in,Not yet assessed
2170,Methylcobalamin deficiency type cblG,MTR,5-methyltetrahydrofolate-homocysteine methyltransferase,Disease-causing germline mutation(s) in,Assessed
220295,Xeroderma pigmentosum-Cockayne syndrome complex,ERCC5,"ERCC excision repair 5, endonuclease",Disease-causing germline mutation(s) in,Assessed
220295,Xeroderma pigmentosum-Cockayne syndrome complex,ERCC4,"ERCC excision repair 4, endonuclease catalytic subunit",Disease-causing germline mutation(s) in,Assessed
220295,Xeroderma pigmentosum-Cockayne syndrome complex,ERCC2,"ERCC excision repair 2, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
220295,Xeroderma pigmentosum-Cockayne syndrome complex,ERCC3,"ERCC excision repair 3, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
414,Gyrate atrophy of choroid and retina,OAT,ornithine aminotransferase,Disease-causing germline mutation(s) in,Assessed
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,NAGS,N-acetylglutamate synthase,Disease-causing germline mutation(s) in,Assessed
2880,Phosphoenolpyruvate carboxykinase deficiency,PCK1,phosphoenolpyruvate carboxykinase 1,Disease-causing germline mutation(s) in,Assessed
2880,Phosphoenolpyruvate carboxykinase deficiency,PCK2,"phosphoenolpyruvate carboxykinase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
941,D-glyceric aciduria,GLYCTK,glycerate kinase,Disease-causing germline mutation(s) in,Assessed
220465,Laron syndrome with immunodeficiency,STAT5B,signal transducer and activator of transcription 5B,Disease-causing germline mutation(s) in,Assessed
220460,Attenuated familial adenomatous polyposis,APC,APC regulator of Wnt signaling pathway,Disease-causing germline mutation(s) in,Assessed
2843,Pentosuria,DCXR,dicarbonyl and L-xylulose reductase,Disease-causing germline mutation(s) in,Assessed
220497,Joubert syndrome with renal defect,NPHP1,nephrocystin 1,Disease-causing germline mutation(s) in,Assessed
220497,Joubert syndrome with renal defect,RPGRIP1L,RPGRIP1 like,Disease-causing germline mutation(s) in,Assessed
220497,Joubert syndrome with renal defect,TMEM237,transmembrane protein 237,Disease-causing germline mutation(s) in,Assessed
212,Cystathioninuria,CTH,cystathionine gamma-lyase,Disease-causing germline mutation(s) (loss of function) in,Assessed
220493,Joubert syndrome with ocular defect,AHI1,Abelson helper integration site 1,Disease-causing germline mutation(s) in,Assessed
220493,Joubert syndrome with ocular defect,MKS1,MKS transition zone complex subunit 1,Disease-causing germline mutation(s) in,Assessed
220493,Joubert syndrome with ocular defect,INPP5E,inositol polyphosphate-5-phosphatase E,Disease-causing germline mutation(s) in,Assessed
220493,Joubert syndrome with ocular defect,CEP41,centrosomal protein 41,Disease-causing germline mutation(s) (loss of function) in,Assessed
220493,Joubert syndrome with ocular defect,CEP120,centrosomal protein 120,Disease-causing germline mutation(s) in,Assessed
470,Lysinuric protein intolerance,SLC7A7,solute carrier family 7 member 7,Disease-causing germline mutation(s) in,Assessed
145,Hereditary breast and/or ovarian cancer syndrome,PTEN,phosphatase and tensin homolog,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,RAD51,RAD51 recombinase,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,BRCA2,BRCA2 DNA repair associated,Disease-causing germline mutation(s) (loss of function) in,Assessed
145,Hereditary breast and/or ovarian cancer syndrome,BRIP1,BRCA1 interacting DNA helicase 1,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,CHEK2,checkpoint kinase 2,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,TP53,tumor protein p53,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,MRE11,MRE11 double strand break repair nuclease,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,NBN,nibrin,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,PALB2,partner and localizer of BRCA2,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,BARD1,BRCA1 associated RING domain 1,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,RAD51C,RAD51 paralog C,Disease-causing germline mutation(s) in,Assessed
145,Hereditary breast and/or ovarian cancer syndrome,RAD50,RAD50 double strand break repair protein,Candidate gene tested in,Not yet assessed
145,Hereditary breast and/or ovarian cancer syndrome,RAD51D,RAD51 paralog D,Disease-causing germline mutation(s) in,Assessed
145,Hereditary breast and/or ovarian cancer syndrome,ATM,ATM serine/threonine kinase,Major susceptibility factor in,Assessed
145,Hereditary breast and/or ovarian cancer syndrome,BRCA1,BRCA1 DNA repair associated,Disease-causing germline mutation(s) (loss of function) in,Assessed
2965,Prolactinoma,CDH23,cadherin related 23,Major susceptibility factor in,Assessed
2965,Prolactinoma,MEN1,menin 1,Major susceptibility factor in,Assessed
2965,Prolactinoma,AIP,AHR interacting HSP90 co-chaperone,Major susceptibility factor in,Assessed
538,Lymphangioleiomyomatosis,TSC1,TSC complex subunit 1,Disease-causing somatic mutation(s) in,Assessed
538,Lymphangioleiomyomatosis,TSC2,TSC complex subunit 2,Disease-causing somatic mutation(s) in,Assessed
1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,PCBD1,pterin-4 alpha-carbinolamine dehydratase 1,Disease-causing germline mutation(s) in,Assessed
3208,Isolated succinate-CoQ reductase deficiency,SDHA,succinate dehydrogenase complex flavoprotein subunit A,Disease-causing germline mutation(s) in,Assessed
3208,Isolated succinate-CoQ reductase deficiency,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Disease-causing germline mutation(s) in,Assessed
3208,Isolated succinate-CoQ reductase deficiency,SDHD,succinate dehydrogenase complex subunit D,Disease-causing germline mutation(s) (loss of function) in,Assessed
3208,Isolated succinate-CoQ reductase deficiency,SDHAF1,succinate dehydrogenase complex assembly factor 1,Disease-causing germline mutation(s) in,Assessed
221008,Rothmund-Thomson syndrome type 1,ANAPC1,anaphase promoting complex subunit 1,Disease-causing germline mutation(s) in,Assessed
24,Fumaric aciduria,FH,fumarate hydratase,Disease-causing germline mutation(s) (loss of function) in,Assessed
221016,Rothmund-Thomson syndrome type 2,RECQL4,RecQ like helicase 4,Disease-causing germline mutation(s) in,Assessed
1561,Fatal infantile cytochrome C oxidase deficiency,SCO1,synthesis of cytochrome C oxidase 1,Disease-causing germline mutation(s) in,Assessed
1561,Fatal infantile cytochrome C oxidase deficiency,SCO2,synthesis of cytochrome C oxidase 2,Disease-causing germline mutation(s) in,Assessed
1561,Fatal infantile cytochrome C oxidase deficiency,COX15,cytochrome c oxidase assembly factor COX15,Disease-causing germline mutation(s) in,Assessed
1561,Fatal infantile cytochrome C oxidase deficiency,COA5,cytochrome c oxidase assembly factor 5,Disease-causing germline mutation(s) in,Assessed
1561,Fatal infantile cytochrome C oxidase deficiency,COA6,cytochrome c oxidase assembly factor 6,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,BCS1L,BCS1 ubiquinol-cytochrome c reductase complex chaperone,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,MT-CYB,mitochondrially encoded cytochrome b,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,UQCRQ,ubiquinol-cytochrome c reductase complex III subunit VII,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,UQCRB,ubiquinol-cytochrome c reductase binding protein,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,TTC19,tetratricopeptide repeat domain 19,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,UQCRC2,ubiquinol-cytochrome c reductase core protein 2,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,CYC1,cytochrome c1,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,LYRM7,LYR motif containing 7,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,UQCC2,ubiquinol-cytochrome c reductase complex assembly factor 2,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,UQCC3,ubiquinol-cytochrome c reductase complex assembly factor 3,Disease-causing germline mutation(s) in,Assessed
1460,Isolated complex III deficiency,UQCRFS1,"ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1",Disease-causing germline mutation(s) in,Assessed
851,Paris-Trousseau thrombocytopenia,FLI1,"Fli-1 proto-oncogene, ETS transcription factor",Role in the phenotype of,Assessed
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,FAM111B,FAM111 trypsin like peptidase B,Disease-causing germline mutation(s) in,Assessed
221046,Poikiloderma with neutropenia,USB1,U6 snRNA biogenesis phosphodiesterase 1,Disease-causing germline mutation(s) in,Assessed
745,Severe hereditary thrombophilia due to congenital protein C deficiency,PROC,"protein C, inactivator of coagulation factors Va and VIIIa",Disease-causing germline mutation(s) in,Assessed
221061,Familial cerebral cavernous malformation,CCM2,CCM2 scaffold protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
221061,Familial cerebral cavernous malformation,KRIT1,KRIT1 ankyrin repeat containing,Disease-causing germline mutation(s) (loss of function) in,Assessed
221061,Familial cerebral cavernous malformation,PDCD10,programmed cell death 10,Disease-causing germline mutation(s) in,Assessed
221061,Familial cerebral cavernous malformation,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
849,Glanzmann thrombasthenia,ITGA2B,integrin subunit alpha 2b,Disease-causing germline mutation(s) in,Assessed
849,Glanzmann thrombasthenia,ITGB3,integrin subunit beta 3,Disease-causing germline mutation(s) in,Assessed
225154,Familial infantile bilateral striatal necrosis,NUP54,nucleoporin 54,Disease-causing germline mutation(s) in,Assessed
225154,Familial infantile bilateral striatal necrosis,ADAR,adenosine deaminase RNA specific,Disease-causing germline mutation(s) (loss of function) in,Assessed
225154,Familial infantile bilateral striatal necrosis,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
225154,Familial infantile bilateral striatal necrosis,NUP62,nucleoporin 62,Disease-causing germline mutation(s) in,Assessed
225123,TFR2-related hemochromatosis,TFR2,transferrin receptor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
221126,Fowler vasculopathy,FLVCR2,FLVCR choline and putative heme transporter 2,Disease-causing germline mutation(s) in,Assessed
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,KNSTRN,kinetochore localized astrin (SPAG5) binding protein,Disease-causing germline mutation(s) in,Assessed
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,PIK3CD,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",Disease-causing germline mutation(s) in,Assessed
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",LTBP4,latent transforming growth factor beta binding protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",LTBP4,latent transforming growth factor beta binding protein 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
228003,Severe combined immunodeficiency due to CORO1A deficiency,CORO1A,coronin 1A,Disease-causing germline mutation(s) in,Assessed
228000,Idiopathic CD4 lymphocytopenia,UNC119,unc-119 lipid binding chaperone,Disease-causing germline mutation(s) in,Assessed
842,Testicular seminomatous germ cell tumor,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
227976,"Autosomal recessive optic atrophy, OPA7 type",TMEM126A,transmembrane protein 126A,Disease-causing germline mutation(s) in,Assessed
227796,Fundus albipunctatus,PRPH2,peripherin 2,Candidate gene tested in,Not yet assessed
227796,Fundus albipunctatus,RDH5,retinol dehydrogenase 5,Disease-causing germline mutation(s) in,Assessed
227796,Fundus albipunctatus,RLBP1,retinaldehyde binding protein 1,Disease-causing germline mutation(s) in,Assessed
389,Langerhans cell histiocytosis,MAP2K1,mitogen-activated protein kinase kinase 1,Disease-causing germline mutation(s) in,Assessed
389,Langerhans cell histiocytosis,NRAS,"NRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
389,Langerhans cell histiocytosis,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,MYO6,myosin VI,Disease-causing germline mutation(s) in,Assessed
543,Burkitt lymphoma,MYC,"MYC proto-oncogene, bHLH transcription factor",Part of a fusion gene in,Assessed
319,Skeletal Ewing sarcoma,ERG,ETS transcription factor ERG,Part of a fusion gene in,Assessed
319,Skeletal Ewing sarcoma,ETV1,ETS variant transcription factor 1,Part of a fusion gene in,Assessed
319,Skeletal Ewing sarcoma,EWSR1,EWS RNA binding protein 1,Part of a fusion gene in,Assessed
319,Skeletal Ewing sarcoma,FLI1,"Fli-1 proto-oncogene, ETS transcription factor",Part of a fusion gene in,Assessed
319,Skeletal Ewing sarcoma,ETV4,ETS variant transcription factor 4,Part of a fusion gene in,Assessed
227535,Hereditary breast cancer,NQO2,N-ribosyldihydronicotinamide:quinone dehydrogenase 2,Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,ATM,ATM serine/threonine kinase,Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,CDH1,cadherin 1,Candidate gene tested in,Not yet assessed
227535,Hereditary breast cancer,BRCA1,BRCA1 DNA repair associated,Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,BRCA2,BRCA2 DNA repair associated,Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,PALB2,partner and localizer of BRCA2,Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,XRCC2,X-ray repair cross complementing 2,Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,KLLN,"killin, p53 regulated DNA replication inhibitor",Major susceptibility factor in,Assessed
227535,Hereditary breast cancer,RAD54L,RAD54 like,Candidate gene tested in,Not yet assessed
227535,Hereditary breast cancer,SLC67A1,solute carrier family 67 member 1,Candidate gene tested in,Not yet assessed
668,Osteosarcoma,CHEK2,checkpoint kinase 2,Candidate gene tested in,Not yet assessed
668,Osteosarcoma,RB1,RB transcriptional corepressor 1,Candidate gene tested in,Assessed
668,Osteosarcoma,TP53,tumor protein p53,Disease-causing somatic mutation(s) in,Assessed
668,Osteosarcoma,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
227510,"Multiple system atrophy, cerebellar type",COQ2,"coenzyme Q2, polyprenyltransferase",Major susceptibility factor in,Assessed
2030,Fibrosarcoma,ETV6,ETS variant transcription factor 6,Part of a fusion gene in,Assessed
2030,Fibrosarcoma,NTRK3,neurotrophic receptor tyrosine kinase 3,Part of a fusion gene in,Assessed
2126,Solitary fibrous tumor,STAT6,signal transducer and activator of transcription 6,Part of a fusion gene in,Assessed
2126,Solitary fibrous tumor,NAB2,NGFI-A binding protein 2,Part of a fusion gene in,Assessed
758,Pseudoxanthoma elasticum,ABCC6,ATP binding cassette subfamily C member 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
758,Pseudoxanthoma elasticum,ENPP1,ectonucleotide pyrophosphatase/phosphodiesterase 1,Disease-causing germline mutation(s) in,Assessed
419,Hyperprolinemia type 1,PRODH,proline dehydrogenase 1,Disease-causing germline mutation(s) in,Assessed
1501,Adrenocortical carcinoma,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
1501,Adrenocortical carcinoma,TP53,tumor protein p53,Disease-causing somatic mutation(s) in,Assessed
1501,Adrenocortical carcinoma,ZNRF3,zinc and ring finger 3,Disease-causing somatic mutation(s) in,Assessed
1501,Adrenocortical carcinoma,CTNNB1,catenin beta 1,Disease-causing somatic mutation(s) in,Assessed
1501,Adrenocortical carcinoma,CDKN2A,cyclin dependent kinase inhibitor 2A,Disease-causing somatic mutation(s) in,Assessed
1501,Adrenocortical carcinoma,TERT,telomerase reverse transcriptase,Disease-causing somatic mutation(s) in,Assessed
1501,Adrenocortical carcinoma,PRKAR1A,protein kinase cAMP-dependent type I regulatory subunit alpha,Disease-causing somatic mutation(s) in,Assessed
226316,Genetic transient congenital hypothyroidism,DUOX2,dual oxidase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,POU1F1,POU class 1 homeobox 1,Disease-causing germline mutation(s) in,Assessed
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,PROP1,PROP paired-like homeobox 1,Disease-causing germline mutation(s) in,Assessed
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,HESX1,HESX homeobox 1,Disease-causing germline mutation(s) in,Assessed
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,LHX3,LIM homeobox 3,Disease-causing germline mutation(s) in,Assessed
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,LHX4,LIM homeobox 4,Disease-causing germline mutation(s) in,Assessed
3273,Synovial sarcoma,SS18,SS18 subunit of BAF chromatin remodeling complex,Part of a fusion gene in,Assessed
3273,Synovial sarcoma,SSX1,SSX family member 1,Part of a fusion gene in,Assessed
3273,Synovial sarcoma,SSX2,SSX family member 2,Part of a fusion gene in,Assessed
503,Larsen syndrome,FLNB,filamin B,Disease-causing germline mutation(s) in,Assessed
2478,Megalencephalic leukoencephalopathy with subcortical cysts,MLC1,modulator of VRAC current 1,Disease-causing germline mutation(s) in,Assessed
2478,Megalencephalic leukoencephalopathy with subcortical cysts,HEPACAM,hepatic and glial cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
3337,Primary Fanconi renotubular syndrome,EHHADH,enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase,Disease-causing germline mutation(s) in,Assessed
3337,Primary Fanconi renotubular syndrome,GATM,glycine amidinotransferase,Disease-causing germline mutation(s) in,Assessed
3337,Primary Fanconi renotubular syndrome,SLC34A1,solute carrier family 34 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
3337,Primary Fanconi renotubular syndrome,NDUFAF6,NADH:ubiquinone oxidoreductase complex assembly factor 6,Disease-causing germline mutation(s) in,Assessed
223,Arginine vasopressin resistance,AVPR2,arginine vasopressin receptor 2,Disease-causing germline mutation(s) in,Assessed
223,Arginine vasopressin resistance,AQP2,aquaporin 2,Disease-causing germline mutation(s) in,Assessed
228423,GATA2 deficiency spectrum,GATA2,GATA binding protein 2,Disease-causing germline mutation(s) in,Assessed
521,Chronic myeloid leukemia,BCR,BCR activator of RhoGEF and GTPase,Part of a fusion gene in,Assessed
521,Chronic myeloid leukemia,ABL1,"ABL proto-oncogene 1, non-receptor tyrosine kinase",Part of a fusion gene in,Assessed
521,Chronic myeloid leukemia,RUNX1,RUNX family transcription factor 1,Biomarker tested in,Assessed
228415,5q35 microduplication syndrome,NSD1,nuclear receptor binding SET domain protein 1,Role in the phenotype of,Assessed
132,Hereditary butyrylcholinesterase deficiency,BCHE,butyrylcholinesterase,Disease-causing germline mutation(s) in,Assessed
228426,Syndromic multisystem autoimmune disease due to Itch deficiency,ITCH,itchy E3 ubiquitin protein ligase,Disease-causing germline mutation(s) in,Assessed
2345,Isolated Klippel-Feil syndrome,GDF3,growth differentiation factor 3,Disease-causing germline mutation(s) in,Assessed
2345,Isolated Klippel-Feil syndrome,MEOX1,mesenchyme homeobox 1,Disease-causing germline mutation(s) in,Assessed
2345,Isolated Klippel-Feil syndrome,GDF6,growth differentiation factor 6,Disease-causing germline mutation(s) in,Assessed
1333,Familial pancreatic carcinoma,BRCA1,BRCA1 DNA repair associated,Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,BRCA2,BRCA2 DNA repair associated,Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,CDKN2A,cyclin dependent kinase inhibitor 2A,Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,SMAD4,SMAD family member 4,Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,TP53,tumor protein p53,Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,KRAS,"KRAS proto-oncogene, GTPase",Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,PALB2,partner and localizer of BRCA2,Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,PALLD,"palladin, cytoskeletal associated protein",Major susceptibility factor in,Assessed
1333,Familial pancreatic carcinoma,RABL3,"RAB, member of RAS oncogene family like 3",Disease-causing germline mutation(s) in,Assessed
228429,Congenital generalized  lipodystrophy type 4,CAVIN1,caveolae associated protein 1,Disease-causing germline mutation(s) in,Assessed
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,NKX3-2,NK3 homeobox 2,Disease-causing germline mutation(s) in,Assessed
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,ALX4,ALX homeobox 4,Disease-causing germline mutation(s) in,Assessed
228402,2q23.1 microdeletion syndrome,MBD5,methyl-CpG binding domain protein 5,Role in the phenotype of,Assessed
228366,CLN7 disease,MFSD8,major facilitator superfamily domain containing 8,Disease-causing germline mutation(s) in,Assessed
228384,5q14.3 microdeletion syndrome,MEF2C,myocyte enhancer factor 2C,Role in the phenotype of,Assessed
228374,Charcot-Marie-Tooth disease type 2B5,NEFL,neurofilament light chain,Disease-causing germline mutation(s) in,Assessed
228343,CLN4 disease,DNAJC5,DnaJ heat shock protein family (Hsp40) member C5,Disease-causing germline mutation(s) in,Assessed
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",CPT2,carnitine palmitoyltransferase 2,Disease-causing germline mutation(s) in,Assessed
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",CPT2,carnitine palmitoyltransferase 2,Disease-causing germline mutation(s) in,Assessed
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",CPT2,carnitine palmitoyltransferase 2,Disease-causing germline mutation(s) in,Assessed
3203,Overhydrated hereditary stomatocytosis,RHAG,Rh associated glycoprotein,Disease-causing germline mutation(s) in,Assessed
3202,Dehydrated hereditary stomatocytosis,SLC4A1,solute carrier family 4 member 1 (Diego blood group),Disease-causing germline mutation(s) in,Assessed
3202,Dehydrated hereditary stomatocytosis,PIEZO1,piezo type mechanosensitive ion channel component 1 (Er blood group),Disease-causing germline mutation(s) (gain of function) in,Assessed
3202,Dehydrated hereditary stomatocytosis,KCNN4,potassium calcium-activated channel subfamily N member 4,Disease-causing germline mutation(s) in,Assessed
228140,Idiopathic ventricular fibrillation,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) in,Assessed
228140,Idiopathic ventricular fibrillation,DPP6,dipeptidyl peptidase like 6,Disease-causing germline mutation(s) in,Assessed
1018,X-linked Alport syndrome-diffuse leiomyomatosis,COL4A6,collagen type IV alpha 6 chain,Role in the phenotype of,Assessed
1018,X-linked Alport syndrome-diffuse leiomyomatosis,COL4A5,collagen type IV alpha 5 chain,Role in the phenotype of,Assessed
306,Self-limited infantile epilepsy,SCN8A,sodium voltage-gated channel alpha subunit 8,Disease-causing germline mutation(s) (gain of function) in,Assessed
306,Self-limited infantile epilepsy,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) in,Assessed
306,Self-limited infantile epilepsy,KCNQ2,potassium voltage-gated channel subfamily Q member 2,Disease-causing germline mutation(s) in,Assessed
306,Self-limited infantile epilepsy,KCNQ3,potassium voltage-gated channel subfamily Q member 3,Disease-causing germline mutation(s) in,Assessed
306,Self-limited infantile epilepsy,PRRT2,proline rich transmembrane protein 2,Disease-causing germline mutation(s) in,Assessed
328,Congenital factor X deficiency,F10,coagulation factor X,Disease-causing germline mutation(s) in,Assessed
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,AARS1,alanyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
228169,Autosomal dominant striatal neurodegeneration,PDE8B,phosphodiesterase 8B,Disease-causing germline mutation(s) in,Assessed
2132,Hemoglobin C disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
2133,Hemoglobin E disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,DNM2,dynamin 2,Disease-causing germline mutation(s) in,Assessed
288,Hereditary elliptocytosis,SPTA1,"spectrin alpha, erythrocytic 1",Disease-causing germline mutation(s) in,Assessed
288,Hereditary elliptocytosis,SPTB,"spectrin beta, erythrocytic",Disease-causing germline mutation(s) in,Assessed
288,Hereditary elliptocytosis,EPB41,erythrocyte membrane protein band 4.1,Disease-causing germline mutation(s) in,Assessed
288,Hereditary elliptocytosis,GYPC,glycophorin C (Gerbich blood group),Disease-causing germline mutation(s) in,Assessed
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,DTNBP1,dystrobrevin binding protein 1,Disease-causing germline mutation(s) in,Assessed
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,BLOC1S5,biogenesis of lysosomal organelles complex 1 subunit 5,Disease-causing germline mutation(s) in,Assessed
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,BLOC1S3,biogenesis of lysosomal organelles complex 1 subunit 3,Disease-causing germline mutation(s) in,Assessed
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,BLOC1S6,biogenesis of lysosomal organelles complex 1 subunit 6,Disease-causing germline mutation(s) in,Assessed
231512,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,HPS3,HPS3 biogenesis of lysosomal organelles complex 2 subunit 1,Disease-causing germline mutation(s) in,Assessed
231512,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,HPS5,HPS5 biogenesis of lysosomal organelles complex 2 subunit 2,Disease-causing germline mutation(s) in,Assessed
231512,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,HPS6,HPS6 biogenesis of lysosomal organelles complex 2 subunit 3,Disease-causing germline mutation(s) in,Assessed
256,Early-onset generalized limb-onset dystonia,TOR1A,torsin family 1 member A,Disease-causing germline mutation(s) in,Assessed
256,Early-onset generalized limb-onset dystonia,EIF2AK2,eukaryotic translation initiation factor 2 alpha kinase 2,Disease-causing germline mutation(s) in,Assessed
256,Early-onset generalized limb-onset dystonia,SHQ1,"SHQ1, H/ACA ribonucleoprotein assembly factor",Disease-causing germline mutation(s) in,Assessed
231500,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,HPS1,HPS1 biogenesis of lysosomal organelles complex 3 subunit 1,Disease-causing germline mutation(s) in,Assessed
231500,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,HPS4,HPS4 biogenesis of lysosomal organelles complex 3 subunit 2,Disease-causing germline mutation(s) in,Assessed
2073,Narcolepsy type 1,HCRT,hypocretin neuropeptide precursor,Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,HLA-DQB1,"major histocompatibility complex, class II, DQ beta 1",Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,MOG,myelin oligodendrocyte glycoprotein,Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,TNFSF4,TNF superfamily member 4,Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,P2RY11,purinergic receptor P2Y11,Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,ZNF365,zinc finger protein 365,Major susceptibility factor in,Assessed
2073,Narcolepsy type 1,CTSH,cathepsin H,Major susceptibility factor in,Assessed
231401,Alpha-thalassemia-myelodysplastic syndrome,ATRX,ATRX chromatin remodeler,Disease-causing somatic mutation(s) in,Assessed
231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,GATA1,GATA binding protein 1,Disease-causing germline mutation(s) in,Assessed
1309,Medullary sponge kidney,HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) in,Assessed
231249,Hemoglobin E-beta-thalassemia syndrome,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
231242,Hemoglobin C-beta-thalassemia syndrome,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
2197,Idiopathic hypercalciuria,ADCY10,adenylate cyclase 10,Major susceptibility factor in,Assessed
231237,Delta-beta-thalassemia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
231237,Delta-beta-thalassemia,HBG1,hemoglobin subunit gamma 1,Disease-causing germline mutation(s) in,Assessed
231237,Delta-beta-thalassemia,HBD,hemoglobin subunit delta,Disease-causing germline mutation(s) in,Assessed
231226,Unstable beta globin chain variant disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
231222,Beta-thalassemia intermedia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
231214,Beta-thalassemia major,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
2841,Hailey-Hailey disease,ATP2C1,ATPase secretory pathway Ca2+ transporting 1,Disease-causing germline mutation(s) in,Assessed
231183,Usher syndrome type 3,CEP78,centrosomal protein 78,Disease-causing germline mutation(s) in,Assessed
231183,Usher syndrome type 3,ARSG,arylsulfatase G,Disease-causing germline mutation(s) in,Assessed
231183,Usher syndrome type 3,CLRN1,clarin 1,Disease-causing germline mutation(s) in,Assessed
231183,Usher syndrome type 3,MT-TS2,mitochondrially encoded tRNA-Ser (AGU/C) 2,Disease-causing germline mutation(s) in,Not yet assessed
231183,Usher syndrome type 3,HARS1,histidyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
347,Frasier syndrome,WT1,WT1 transcription factor,Disease-causing germline mutation(s) in,Assessed
231178,Usher syndrome type 2,USH2A,usherin,Disease-causing germline mutation(s) in,Assessed
231178,Usher syndrome type 2,ADGRV1,adhesion G protein-coupled receptor V1,Disease-causing germline mutation(s) in,Assessed
231178,Usher syndrome type 2,MYO7A,myosin VIIA,Disease-causing germline mutation(s) in,Assessed
231178,Usher syndrome type 2,WHRN,whirlin,Disease-causing germline mutation(s) in,Assessed
231178,Usher syndrome type 2,PDZD7,PDZ domain containing 7,Modifying germline mutation in,Assessed
2596,Myopathy and diabetes mellitus,MT-TE,mitochondrially encoded tRNA-Glu (GAA/G),Disease-causing germline mutation(s) in,Assessed
231154,Combined immunodeficiency due to partial RAG1 deficiency,RAG1,recombination activating 1,Disease-causing germline mutation(s) in,Assessed
2966,Properdin deficiency,CFP,complement factor properdin,Disease-causing germline mutation(s) in,Assessed
231160,Familial cerebral saccular aneurysm,ANGPTL6,angiopoietin like 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
231160,Familial cerebral saccular aneurysm,COL3A1,collagen type III alpha 1 chain,Candidate gene tested in,Not yet assessed
231160,Familial cerebral saccular aneurysm,ENG,endoglin,Major susceptibility factor in,Assessed
231160,Familial cerebral saccular aneurysm,TGFBR3,transforming growth factor beta receptor 3,Candidate gene tested in,Not yet assessed
231160,Familial cerebral saccular aneurysm,THSD1,thrombospondin type 1 domain containing 1,Disease-causing germline mutation(s) in,Assessed
231169,Usher syndrome type 1,USH1K,Usher syndrome 1K (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
231169,Usher syndrome type 1,CDH23,cadherin related 23,Disease-causing germline mutation(s) (loss of function) in,Assessed
231169,Usher syndrome type 1,USH1C,USH1 protein network component harmonin,Disease-causing germline mutation(s) (loss of function) in,Assessed
231169,Usher syndrome type 1,USH1G,USH1 protein network component sans,Disease-causing germline mutation(s) (loss of function) in,Assessed
231169,Usher syndrome type 1,MYO7A,myosin VIIA,Disease-causing germline mutation(s) (loss of function) in,Assessed
231169,Usher syndrome type 1,PCDH15,protocadherin related 15,Disease-causing germline mutation(s) (loss of function) in,Assessed
231169,Usher syndrome type 1,USH1E,"Usher syndrome 1E (autosomal recessive, severe)",Disease-causing germline mutation(s) in,Assessed
231169,Usher syndrome type 1,USH1H,Usher syndrome 1H (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
231169,Usher syndrome type 1,CIB2,calcium and integrin binding family member 2,Disease-causing germline mutation(s) in,Assessed
231169,Usher syndrome type 1,ESPN,espin,Disease-causing germline mutation(s) in,Assessed
231140,Silver-Russell syndrome due to an imprinting defect of 11p15,IGF2,insulin like growth factor 2,Role in the phenotype of,Assessed
231140,Silver-Russell syndrome due to an imprinting defect of 11p15,H19,H19 imprinted maternally expressed transcript,Role in the phenotype of,Assessed
231144,Silver-Russell syndrome due to 11p15 microduplication,H19,H19 imprinted maternally expressed transcript,Role in the phenotype of,Assessed
231144,Silver-Russell syndrome due to 11p15 microduplication,IGF2,insulin like growth factor 2,Role in the phenotype of,Assessed
231120,Beckwith-Wiedemann syndrome due to CDKN1C mutation,CDKN1C,cyclin dependent kinase inhibitor 1C,Disease-causing germline mutation(s) (loss of function) in,Assessed
231127,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,H19,H19 imprinted maternally expressed transcript,Role in the phenotype of,Assessed
231108,Rhabdoid tumor predisposition syndrome,SMARCB1,SWI/SNF related BAF chromatin remodeling complex subunit B1,Disease-causing germline mutation(s) (loss of function) in,Assessed
231108,Rhabdoid tumor predisposition syndrome,SMARCA4,SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4,Disease-causing germline mutation(s) in,Assessed
231117,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,H19,H19 imprinted maternally expressed transcript,Role in the phenotype of,Assessed
231117,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,KCNQ1OT1,KCNQ1 opposite strand/antisense transcript 1,Role in the phenotype of,Assessed
231117,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,IGF2,insulin like growth factor 2,Role in the phenotype of,Assessed
231040,Familial generalized lentiginosis,SASH1,SAM and SH3 domain containing 1,Disease-causing germline mutation(s) in,Assessed
3318,Essential thrombocythemia,TET2,tet methylcytosine dioxygenase 2,Biomarker tested in,Assessed
3318,Essential thrombocythemia,JAK2,Janus kinase 2,Disease-causing somatic mutation(s) in,Assessed
3318,Essential thrombocythemia,MPL,"MPL proto-oncogene, thrombopoietin receptor",Disease-causing somatic mutation(s) in,Assessed
3318,Essential thrombocythemia,CALR,calreticulin,Disease-causing somatic mutation(s) in,Assessed
3318,Essential thrombocythemia,SH2B3,SH2B adaptor protein 3,Disease-causing somatic mutation(s) in,Assessed
3318,Essential thrombocythemia,TP53,tumor protein p53,Biomarker tested in,Assessed
230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
230851,Cardiac-valvular Ehlers-Danlos syndrome,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
82,Hereditary thrombophilia due to congenital antithrombin deficiency,SERPINC1,serpin family C member 1,Disease-causing germline mutation(s) in,Assessed
230839,Classical-like Ehlers-Danlos syndrome type 1,TNXB,tenascin XB,Disease-causing germline mutation(s) in,Assessed
238269,AApoAII amyloidosis,APOA2,apolipoprotein A2,Disease-causing germline mutation(s) in,Assessed
238446,15q11q13 microduplication syndrome,UBE3A,ubiquitin protein ligase E3A,Role in the phenotype of,Assessed
238329,Severe X-linked mitochondrial encephalomyopathy,AIFM1,apoptosis inducing factor mitochondria associated 1,Disease-causing germline mutation(s) in,Assessed
231568,Autosomal dominant generalized dystrophic epidermolysis bullosa,COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,PLOD1,"procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",Disease-causing germline mutation(s) in,Assessed
231671,Isolated growth hormone deficiency type IB,GH1,growth hormone 1,Disease-causing germline mutation(s) in,Assessed
286,Vascular Ehlers-Danlos syndrome,COL3A1,collagen type III alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
231679,Isolated growth hormone deficiency type II,GH1,growth hormone 1,Disease-causing germline mutation(s) in,Assessed
231679,Isolated growth hormone deficiency type II,POU1F1,POU class 1 homeobox 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
231662,Isolated growth hormone deficiency type IA,GH1,growth hormone 1,Disease-causing germline mutation(s) in,Assessed
231662,Isolated growth hormone deficiency type IA,RNPC3,"RNA binding region (RNP1, RRM) containing 3",Disease-causing germline mutation(s) in,Assessed
257,Epidermolysis bullosa simplex with muscular dystrophy,PLEC,plectin,Disease-causing germline mutation(s) in,Assessed
1901,Dermatosparaxis Ehlers-Danlos syndrome,ADAMTS2,ADAM metallopeptidase with thrombospondin type 1 motif 2,Disease-causing germline mutation(s) in,Assessed
1901,Dermatosparaxis Ehlers-Danlos syndrome,ADAMTSL2,ADAMTS like 2,Disease-causing germline mutation(s) in,Assessed
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,LHX3,LIM homeobox 3,Disease-causing germline mutation(s) in,Assessed
1899,Arthrochalasia Ehlers-Danlos syndrome,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
1899,Arthrochalasia Ehlers-Danlos syndrome,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
839,"Congenital nephrotic syndrome, Finnish type",NPHS1,"NPHS1 adhesion molecule, nephrin",Disease-causing germline mutation(s) in,Assessed
531,Miller-Dieker syndrome,HIC1,HIC ZBTB transcriptional repressor 1,Candidate gene tested in,Not yet assessed
531,Miller-Dieker syndrome,YWHAE,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,Role in the phenotype of,Assessed
531,Miller-Dieker syndrome,PAFAH1B1,platelet activating factor acetylhydrolase 1b regulatory subunit 1,Role in the phenotype of,Assessed
452,X-linked lissencephaly with abnormal genitalia,ARX,aristaless related homeobox,Disease-causing germline mutation(s) (loss of function) in,Assessed
238763,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,LTBP2,latent transforming growth factor beta binding protein 2,Disease-causing germline mutation(s) in,Assessed
238722,Familial congenital mirror movements,DNAL4,dynein axonemal light chain 4,Disease-causing germline mutation(s) in,Assessed
238722,Familial congenital mirror movements,RAD51,RAD51 recombinase,Disease-causing germline mutation(s) in,Assessed
238722,Familial congenital mirror movements,DCC,DCC netrin 1 receptor,Disease-causing germline mutation(s) in,Assessed
238722,Familial congenital mirror movements,NTN1,netrin 1,Disease-causing germline mutation(s) in,Assessed
238769,1q44 microdeletion syndrome,HNRNPU,heterogeneous nuclear ribonucleoprotein U,Role in the phenotype of,Assessed
238505,Combined immunodeficiency due to CD27 deficiency,CD27,CD27 molecule,Disease-causing germline mutation(s) in,Assessed
238475,Familial hypercholanemia,EPHX1,epoxide hydrolase 1,Disease-causing germline mutation(s) in,Assessed
238475,Familial hypercholanemia,TJP2,tight junction protein 2,Disease-causing germline mutation(s) in,Assessed
238475,Familial hypercholanemia,BAAT,bile acid-CoA:amino acid N-acyltransferase,Disease-causing germline mutation(s) in,Assessed
238475,Familial hypercholanemia,SLC10A1,solute carrier family 10 member 1,Disease-causing germline mutation(s) in,Assessed
238455,Infantile dystonia-parkinsonism,SLC6A3,solute carrier family 6 member 3,Disease-causing germline mutation(s) in,Assessed
238455,Infantile dystonia-parkinsonism,WARS2,"tryptophanyl tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
238459,SLC35A1-CDG,SLC35A1,solute carrier family 35 member A1,Disease-causing germline mutation(s) in,Assessed
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,TBX4,T-box transcription factor 4,Role in the phenotype of,Assessed
238557,Chuvash erythrocytosis,VHL,von Hippel-Lindau tumor suppressor,Disease-causing germline mutation(s) (loss of function) in,Assessed
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,IL10,interleukin 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,IL10RA,interleukin 10 receptor subunit alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,IL10RB,interleukin 10 receptor subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
238523,Atypical hypotonia-cystinuria syndrome,SLC3A1,solute carrier family 3 member 1,Role in the phenotype of,Assessed
238523,Atypical hypotonia-cystinuria syndrome,PREPL,prolyl endopeptidase like,Role in the phenotype of,Assessed
238523,Atypical hypotonia-cystinuria syndrome,CAMKMT,calmodulin-lysine N-methyltransferase,Role in the phenotype of,Assessed
238670,Isolated thyrotropin-releasing hormone deficiency,TRH,thyrotropin releasing hormone,Candidate gene tested in,Not yet assessed
240071,Classic progressive supranuclear palsy syndrome,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
240103,Progressive supranuclear palsy-corticobasal syndrome,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
240094,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
240085,Progressive supranuclear palsy-predominant parkinsonism syndrome,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
240760,Nijmegen breakage syndrome-like disorder,MRE11,MRE11 double strand break repair nuclease,Disease-causing germline mutation(s) (loss of function) in,Assessed
240760,Nijmegen breakage syndrome-like disorder,RAD50,RAD50 double strand break repair protein,Disease-causing germline mutation(s) in,Assessed
331226,Susceptibility to infection due to TYK2 deficiency,TYK2,tyrosine kinase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
331176,Severe congenital neutropenia due to G6PC3 deficiency,G6PC3,glucose-6-phosphatase catalytic subunit 3,Disease-causing germline mutation(s) in,Assessed
331187,Immunodeficiency due to MASP-2 deficiency,MASP2,MBL associated serine protease 2,Disease-causing germline mutation(s) in,Assessed
331190,Immunodeficiency due to ficolin3 deficiency,FCN3,ficolin 3,Disease-causing germline mutation(s) in,Assessed
331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,RAG1,recombination activating 1,Disease-causing germline mutation(s) in,Assessed
331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,RAG2,recombination activating 2,Disease-causing germline mutation(s) in,Assessed
330032,Hemoglobin Lepore-beta-thalassemia syndrome,HBD,hemoglobin subunit delta,Part of a fusion gene in,Assessed
330041,Hemoglobin M disease,HBA2,hemoglobin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
330041,Hemoglobin M disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
330041,Hemoglobin M disease,HBA1,hemoglobin subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,DNM1L,dynamin 1 like,Disease-causing germline mutation(s) (gain of function) in,Assessed
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,GFER,"growth factor, augmenter of liver regeneration",Disease-causing germline mutation(s) in,Assessed
329802,5p13 microduplication syndrome,NIPBL,NIPBL cohesin loading factor,Role in the phenotype of,Assessed
329475,Spastic paraplegia-Paget disease of bone syndrome,VCP,valosin containing protein,Disease-causing germline mutation(s) in,Assessed
329481,Lipoprotein glomerulopathy,APOE,apolipoprotein E,Disease-causing germline mutation(s) in,Assessed
329478,Adult-onset distal myopathy due to VCP mutation,VCP,valosin containing protein,Disease-causing germline mutation(s) in,Assessed
329931,C3 glomerulonephritis,CFHR1,complement factor H related 1,Disease-causing germline mutation(s) in,Assessed
329931,C3 glomerulonephritis,CFHR5,complement factor H related 5,Disease-causing germline mutation(s) in,Assessed
329931,C3 glomerulonephritis,CFHR3,complement factor H related 3,Part of a fusion gene in,Assessed
329931,C3 glomerulonephritis,CFHR2,complement factor H related 2,Part of a fusion gene in,Assessed
329971,Generalized juvenile polyposis/juvenile polyposis coli,BMPR1A,bone morphogenetic protein receptor type 1A,Disease-causing germline mutation(s) in,Assessed
329971,Generalized juvenile polyposis/juvenile polyposis coli,ENG,endoglin,Candidate gene tested in,Not yet assessed
329971,Generalized juvenile polyposis/juvenile polyposis coli,SMAD4,SMAD family member 4,Disease-causing germline mutation(s) in,Assessed
329967,Intermittent hydrarthrosis,MEFV,"MEFV innate immunity regulator, pyrin",Candidate gene tested in,Not yet assessed
329967,Intermittent hydrarthrosis,TNFRSF1A,TNF receptor superfamily member 1A,Candidate gene tested in,Not yet assessed
329903,Immunoglobulin-mediated membranoproliferative glomerulonephritis,CFH,complement factor H,Disease-causing germline mutation(s) in,Assessed
329903,Immunoglobulin-mediated membranoproliferative glomerulonephritis,DGKE,diacylglycerol kinase epsilon,Disease-causing germline mutation(s) in,Assessed
329308,Fatty acid hydroxylase-associated neurodegeneration,FA2H,fatty acid 2-hydroxylase,Disease-causing germline mutation(s) in,Assessed
329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,DGUOK,deoxyguanosine kinase,Disease-causing germline mutation(s) in,Assessed
329319,Thrombocythemia with distal limb defects,THPO,thrombopoietin,Disease-causing germline mutation(s) in,Assessed
329284,Beta-propeller protein-associated neurodegeneration,WDR45,WD repeat domain 45,Disease-causing germline mutation(s) in,Assessed
329457,Distal arthrogryposis type 5D,ECEL1,endothelin converting enzyme like 1,Disease-causing germline mutation(s) in,Assessed
329466,"Autosomal dominant focal dystonia, DYT25 type",GNAL,G protein subunit alpha L,Disease-causing germline mutation(s) in,Assessed
329469,Acute megakaryoblastic leukemia in children without Down syndrome,GLIS2,GLIS family zinc finger 2,Part of a fusion gene in,Assessed
329469,Acute megakaryoblastic leukemia in children without Down syndrome,CBFA2T3,CBFA2/RUNX1 partner transcriptional co-repressor 3,Part of a fusion gene in,Assessed
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,RRM2B,ribonucleotide reductase regulatory TP53 inducible subunit M2B,Disease-causing germline mutation(s) in,Assessed
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,RNASEH1,ribonuclease H1,Disease-causing germline mutation(s) (loss of function) in,Assessed
329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,ZNF335,zinc finger protein 335,Disease-causing germline mutation(s) in,Assessed
329224,Schuurs-Hoeijmakers syndrome,PACS1,phosphofurin acidic cluster sorting protein 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
329217,Cerebral sinovenous thrombosis,F2,"coagulation factor II, thrombin",Major susceptibility factor in,Assessed
329217,Cerebral sinovenous thrombosis,F5,coagulation factor V,Major susceptibility factor in,Assessed
329217,Cerebral sinovenous thrombosis,PROZ,"protein Z, vitamin K dependent plasma glycoprotein",Candidate gene tested in,Not yet assessed
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,CAPN5,calpain 5,Disease-causing germline mutation(s) in,Assessed
329195,Developmental delay with autism spectrum disorder and gait instability,HERC2,HECT and RLD domain containing E3 ubiquitin protein ligase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
329191,Tall stature-long halluces-multiple extra-epiphyses syndrome,NPR2,natriuretic peptide receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,DPM2,"dolichyl-phosphate mannosyltransferase subunit 2, regulatory",Disease-causing germline mutation(s) in,Assessed
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,DHTKD1,dehydrogenase E1 and transketolase domain containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
329249,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,SH2B1,SH2B adaptor protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
329242,Congenital chronic diarrhea with protein-losing enteropathy,PLVAP,plasmalemma vesicle associated protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
329242,Congenital chronic diarrhea with protein-losing enteropathy,DGAT1,diacylglycerol O-acyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,IGSF1,immunoglobulin superfamily member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,RBCK1,RANBP2-type and C3HC4-type zinc finger containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,RNF31,ring finger protein 31,Disease-causing germline mutation(s) in,Assessed
329,Congenital factor XI deficiency,F11,coagulation factor XI,Disease-causing germline mutation(s) in,Assessed
1243,Best vitelliform macular dystrophy,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
325524,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,STAR,steroidogenic acute regulatory protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
325448,Leydig cell hypoplasia due to LHB deficiency,LHB,luteinizing hormone subunit beta,Disease-causing germline mutation(s) in,Assessed
325529,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,STAR,steroidogenic acute regulatory protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
324977,Proteasome-associated autoinflammatory syndrome,PSMB8,proteasome 20S subunit beta 8,Disease-causing germline mutation(s) in,Assessed
324718,ABetaA21G amyloidosis,APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
324713,"ABeta amyloidosis, Italian type",APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
324737,SRD5A3-CDG,SRD5A3,steroid 5 alpha-reductase 3,Disease-causing germline mutation(s) in,Assessed
324723,"ABeta amyloidosis, Arctic type",APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
324708,"ABeta amyloidosis, Iowa type",APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
324703,ABetaL34V amyloidosis,APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
324611,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,KIF5A,kinesin family member 5A,Disease-causing germline mutation(s) in,Assessed
324604,Classic multiminicore myopathy,SELENON,selenoprotein N,Disease-causing germline mutation(s) in,Assessed
324604,Classic multiminicore myopathy,TTN,titin,Disease-causing germline mutation(s) (loss of function) in,Assessed
324604,Classic multiminicore myopathy,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
324588,Familial dyskinesia and facial myokymia,ADCY5,adenylate cyclase 5,Disease-causing germline mutation(s) in,Assessed
324601,X-linked cleft palate and ankyloglossia,TBX22,T-box transcription factor 22,Disease-causing germline mutation(s) in,Assessed
324581,Benign Samaritan congenital myopathy,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
324569,Pontocerebellar hypoplasia type 8,CHMP1A,charged multivesicular body protein 1A,Disease-causing germline mutation(s) (loss of function) in,Assessed
324575,Hyperinsulinism due to HNF1A deficiency,HNF1A,HNF1 homeobox A,Disease-causing germline mutation(s) in,Assessed
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,ENPP1,ectonucleotide pyrophosphatase/phosphodiesterase 1,Disease-causing germline mutation(s) in,Assessed
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,PLCG2,phospholipase C gamma 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
324535,Combined oxidative phosphorylation defect type 11,RMND1,required for meiotic nuclear division 1 homolog,Disease-causing germline mutation(s) (loss of function) in,Assessed
324525,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,MT-TL1,mitochondrially encoded tRNA-Leu (UUA/G) 1,Disease-causing germline mutation(s) in,Assessed
324442,Autosomal recessive axonal neuropathy with neuromyotonia,HINT1,histidine triad nucleotide binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
324422,ALG13-CDG,ALG13,ALG13 UDP-N-acetylglucosaminyltransferase subunit,Disease-causing germline mutation(s) in,Assessed
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,CLIC2,chloride intracellular channel 2,Disease-causing germline mutation(s) in,Assessed
324321,Sinoatrial node dysfunction and deafness,CACNA1D,calcium voltage-gated channel subunit alpha1 D,Disease-causing germline mutation(s) (loss of function) in,Assessed
324299,Multiple paragangliomas associated with polycythemia,EPAS1,endothelial PAS domain protein 1,Disease-causing somatic mutation(s) in,Assessed
324294,T-cell immunodeficiency with epidermodysplasia verruciformis,RHOH,ras homolog family member H,Disease-causing germline mutation(s) (loss of function) in,Assessed
324290,PRDM8-related progressive myoclonus epilepsy,PRDM8,PR/SET domain 8,Disease-causing germline mutation(s) in,Assessed
324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,GRM1,glutamate metabotropic receptor 1,Disease-causing germline mutation(s) in,Assessed
320360,MT-ATP6-related mitochondrial spastic paraplegia,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
320355,Autosomal dominant spastic paraplegia type 41,SPG41,spastic paraplegia 41 (autosomal dominant),Disease-causing germline mutation(s) in,Assessed
320370,Autosomal recessive spastic paraplegia type 43,C19ORF12,chromosome 19 open reading frame 12,Disease-causing germline mutation(s) in,Assessed
320365,Autosomal dominant spastic paraplegia type 36,SPG36,spastic paraplegia 36 (autosomal dominant),Disease-causing germline mutation(s) in,Assessed
320380,Autosomal recessive spastic paraplegia type 54,DDHD2,DDHD domain containing 2,Disease-causing germline mutation(s) in,Assessed
320375,Autosomal recessive spastic paraplegia type 55,MTRFR,mitochondrial translation release factor in rescue,Disease-causing germline mutation(s) in,Assessed
320391,Autosomal recessive spastic paraplegia type 46,GBA2,glucosylceramidase beta 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,TECPR2,tectonin beta-propeller repeat containing 2,Disease-causing germline mutation(s) in,Assessed
320401,Autosomal recessive spastic paraplegia type 44,GJC2,gap junction protein gamma 2,Disease-causing germline mutation(s) in,Assessed
320396,Autosomal recessive spastic paraplegia type 45,NT5C2,"5'-nucleotidase, cytosolic II",Disease-causing germline mutation(s) in,Assessed
320411,Autosomal recessive spastic paraplegia type 56,CYP2U1,cytochrome P450 family 2 subfamily U member 1,Disease-causing germline mutation(s) in,Assessed
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,FLRT1,fibronectin leucine rich transmembrane protein 1,Disease-causing germline mutation(s) in,Assessed
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,KLC2,kinesin light chain 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,IFNGR2,interferon gamma receptor 2,Disease-causing germline mutation(s) in,Assessed
319519,Combined oxidative phosphorylation defect type 14,FARS2,"phenylalanyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
319524,Combined oxidative phosphorylation defect type 15,MTFMT,mitochondrial methionyl-tRNA formyltransferase,Disease-causing germline mutation(s) in,Assessed
319509,Combined oxidative phosphorylation defect type 9,MRPL3,mitochondrial ribosomal protein L3,Disease-causing germline mutation(s) in,Assessed
319514,Combined oxidative phosphorylation defect type 13,PNPT1,polyribonucleotide nucleotidyltransferase 1,Disease-causing germline mutation(s) in,Assessed
319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,IFNGR2,interferon gamma receptor 2,Disease-causing germline mutation(s) in,Assessed
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,STAT1,signal transducer and activator of transcription 1,Disease-causing germline mutation(s) in,Assessed
319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,IFNGR2,interferon gamma receptor 2,Disease-causing germline mutation(s) in,Assessed
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,IFNGR1,interferon gamma receptor 1,Disease-causing germline mutation(s) in,Assessed
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,ISG15,ISG15 ubiquitin like modifier,Disease-causing germline mutation(s) in,Assessed
319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,IFNGR1,interferon gamma receptor 1,Disease-causing germline mutation(s) in,Assessed
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,IL12RB1,interleukin 12 receptor subunit beta 1,Disease-causing germline mutation(s) in,Assessed
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,IL12B,interleukin 12B,Disease-causing germline mutation(s) in,Assessed
319651,Constitutional megaloblastic anemia with severe neurologic disease,DHFR,dihydrofolate reductase,Disease-causing germline mutation(s) in,Assessed
319646,PGM1-CDG,PGM1,phosphoglucomutase 1,Disease-causing germline mutation(s) in,Assessed
319640,Retinal macular dystrophy type 2,PROM1,prominin 1,Disease-causing germline mutation(s) in,Assessed
319635,Amyloidosis cutis dyschromia,GPNMB,glycoprotein nmb,Disease-causing germline mutation(s) (loss of function) in,Assessed
319605,X-linked mendelian susceptibility to mycobacterial diseases,CYBB,cytochrome b-245 beta chain,Disease-causing germline mutation(s) in,Assessed
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,IRF8,interferon regulatory factor 8,Disease-causing germline mutation(s) in,Assessed
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,COQ9,coenzyme Q9,Disease-causing germline mutation(s) in,Assessed
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,COQ7,"coenzyme Q7, hydroxylase",Disease-causing germline mutation(s) (loss of function) in,Assessed
319675,"Microcephalic primordial dwarfism, Dauber type",NIN,ninein,Disease-causing germline mutation(s) in,Assessed
319671,Alazami syndrome,LARP7,"La ribonucleoprotein 7, transcriptional regulator",Disease-causing germline mutation(s) (loss of function) in,Assessed
319298,Papillary renal cell carcinoma,MET,"MET proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
319298,Papillary renal cell carcinoma,MITF,melanocyte inducing transcription factor,Major susceptibility factor in,Assessed
319303,Chromophobe renal cell carcinoma,HNF1A,HNF1 homeobox A,Biomarker tested in,Not yet assessed
319308,MiT family translocation renal cell carcinoma,PRCC,proline rich mitotic checkpoint control factor,Part of a fusion gene in,Assessed
319308,MiT family translocation renal cell carcinoma,TFE3,transcription factor binding to IGHM enhancer 3,Part of a fusion gene in,Assessed
319308,MiT family translocation renal cell carcinoma,ASPSCR1,"ASPSCR1 tether for SLC2A4, UBX domain containing",Part of a fusion gene in,Assessed
319308,MiT family translocation renal cell carcinoma,TFEB,transcription factor EB,Part of a fusion gene in,Assessed
319308,MiT family translocation renal cell carcinoma,CLTC,clathrin heavy chain,Part of a fusion gene in,Assessed
319308,MiT family translocation renal cell carcinoma,SFPQ,splicing factor proline and glutamine rich,Part of a fusion gene in,Assessed
319308,MiT family translocation renal cell carcinoma,NONO,non-POU domain containing octamer binding,Part of a fusion gene in,Assessed
319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,SYNE1,spectrin repeat containing nuclear envelope protein 1,Disease-causing germline mutation(s) in,Assessed
319340,Carney complex-trismus-pseudocamptodactyly syndrome,MYH8,myosin heavy chain 8,Disease-causing germline mutation(s) in,Assessed
319487,Familial papillary or follicular thyroid carcinoma,MINPP1,multiple inositol-polyphosphate phosphatase 1,Candidate gene tested in,Not yet assessed
319487,Familial papillary or follicular thyroid carcinoma,FOXE1,forkhead box E1,Disease-causing germline mutation(s) in,Assessed
319487,Familial papillary or follicular thyroid carcinoma,HABP2,hyaluronan binding protein 2,Disease-causing germline mutation(s) in,Assessed
319480,Acute myeloid leukemia with CEBPA somatic mutations,CEBPA,CCAAT enhancer binding protein alpha,Disease-causing somatic mutation(s) in,Assessed
319504,Combined oxidative phosphorylation defect type 8,AARS2,"alanyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
319465,Inherited acute myeloid leukemia,CEBPA,CCAAT enhancer binding protein alpha,Disease-causing germline mutation(s) in,Assessed
319465,Inherited acute myeloid leukemia,TGM6,transglutaminase 6,Disease-causing germline mutation(s) in,Assessed
319465,Inherited acute myeloid leukemia,ERCC6L2,ERCC excision repair 6 like 2,Disease-causing germline mutation(s) in,Assessed
319462,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,BRCA2,BRCA2 DNA repair associated,Disease-causing germline mutation(s) in,Assessed
319199,Autosomal recessive spastic paraplegia type 53,VPS37A,VPS37A subunit of ESCRT-I,Disease-causing germline mutation(s) in,Assessed
319160,Congenital myopathy with internal nuclei and atypical cores,CCDC78,coiled-coil domain containing 78,Disease-causing germline mutation(s) in,Assessed
319189,Familial cortical myoclonus,NOL3,nucleolar protein 3,Disease-causing germline mutation(s) in,Assessed
319192,Diencephalic-mesencephalic junction dysplasia,GSX2,GS homeobox 2,Disease-causing germline mutation(s) in,Assessed
319192,Diencephalic-mesencephalic junction dysplasia,PCDH12,protocadherin 12,Disease-causing germline mutation(s) in,Assessed
319182,Wiedemann-Steiner syndrome,KMT2A,lysine methyltransferase 2A,Disease-causing germline mutation(s) in,Assessed
317428,Combined immunodeficiency due to ORAI1 deficiency,ORAI1,ORAI calcium release-activated calcium modulator 1,Disease-causing germline mutation(s) in,Assessed
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,PRKDC,"protein kinase, DNA-activated, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
317430,Combined immunodeficiency due to STIM1 deficiency,STIM1,stromal interaction molecule 1,Disease-causing germline mutation(s) in,Assessed
317473,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,IKZF1,IKAROS family zinc finger 1,Disease-causing germline mutation(s) in,Assessed
317476,XMEN,MAGT1,magnesium transporter 1,Disease-causing germline mutation(s) in,Assessed
315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",CYP21A2,cytochrome P450 family 21 subfamily A member 2,Disease-causing germline mutation(s) in,Assessed
315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",CYP21A2,cytochrome P450 family 21 subfamily A member 2,Disease-causing germline mutation(s) in,Assessed
314978,X-linked non progressive cerebellar ataxia,ATP2B3,ATPase plasma membrane Ca2+ transporting 3,Disease-causing germline mutation(s) in,Assessed
314950,Primary hypereosinophilic syndrome,FGFR1,fibroblast growth factor receptor 1,Part of a fusion gene in,Assessed
314950,Primary hypereosinophilic syndrome,FIP1L1,factor interacting with PAPOLA and CPSF1,Part of a fusion gene in,Assessed
314950,Primary hypereosinophilic syndrome,PDGFRA,platelet derived growth factor receptor alpha,Part of a fusion gene in,Assessed
314950,Primary hypereosinophilic syndrome,PDGFRB,platelet derived growth factor receptor beta,Part of a fusion gene in,Assessed
314950,Primary hypereosinophilic syndrome,ETV6,ETS variant transcription factor 6,Part of a fusion gene in,Assessed
314918,Mild Canavan disease,ASPA,aspartoacylase,Disease-causing germline mutation(s) (loss of function) in,Assessed
314911,Severe Canavan disease,ASPA,aspartoacylase,Disease-causing germline mutation(s) (loss of function) in,Assessed
314679,Cerebrofacioarticular syndrome,DCHS1,dachsous cadherin-related 1,Disease-causing germline mutation(s) in,Assessed
314679,Cerebrofacioarticular syndrome,FAT4,FAT atypical cadherin 4,Disease-causing germline mutation(s) in,Assessed
314667,TMEM165-CDG,TMEM165,transmembrane protein 165,Disease-causing germline mutation(s) in,Assessed
314689,Combined immunodeficiency due to STK4 deficiency,STK4,serine/threonine kinase 4,Disease-causing germline mutation(s) in,Assessed
314652,Variant ABeta2M amyloidosis,B2M,beta-2-microglobulin,Disease-causing germline mutation(s) in,Assessed
314647,Non-progressive cerebellar ataxia with intellectual disability,CAMTA1,calmodulin binding transcription activator 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
314647,Non-progressive cerebellar ataxia with intellectual disability,POU4F1,POU class 4 homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,PURA,purine rich element binding protein A,Role in the phenotype of,Assessed
314629,CLN11 disease,GRN,granulin precursor,Disease-causing germline mutation(s) in,Assessed
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,MTO1,mitochondrial tRNA translation optimization 1,Disease-causing germline mutation(s) in,Assessed
314632,CLN12 disease,ATP13A2,ATPase cation transporting 13A2,Disease-causing germline mutation(s) in,Assessed
314802,Short stature due to partial GHR deficiency,GHR,growth hormone receptor,Disease-causing germline mutation(s) in,Assessed
314811,Short stature due to GHSR deficiency,GHSR,growth hormone secretagogue receptor,Disease-causing germline mutation(s) in,Assessed
314777,Familial isolated pituitary adenoma,CDH23,cadherin related 23,Major susceptibility factor in,Assessed
314777,Familial isolated pituitary adenoma,AIP,AHR interacting HSP90 co-chaperone,Disease-causing germline mutation(s) in,Assessed
314786,Silent pituitary adenoma,MEN1,menin 1,Major susceptibility factor in,Assessed
314786,Silent pituitary adenoma,AIP,AHR interacting HSP90 co-chaperone,Major susceptibility factor in,Assessed
314790,Null pituitary adenoma,MEN1,menin 1,Major susceptibility factor in,Assessed
314790,Null pituitary adenoma,AIP,AHR interacting HSP90 co-chaperone,Major susceptibility factor in,Assessed
314795,SHOX-related short stature,SHOX,SHOX homeobox,Disease-causing germline mutation(s) in,Assessed
314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,EFEMP2,EGF-like fibulin extracellular matrix protein 2,Disease-causing germline mutation(s) in,Assessed
314721,Atypical dentin dysplasia due to SMOC2 deficiency,SMOC2,SPARC related modular calcium binding 2,Disease-causing germline mutation(s) in,Assessed
370109,Ataxia-telangiectasia variant,ATM,ATM serine/threonine kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
370103,"Primary dystonia, DYT17 type",DYT17,dystonia 17,Disease-causing germline mutation(s) in,Assessed
370097,Oculocutaneous albinism type 6,SLC24A5,solute carrier family 24 member 5,Disease-causing germline mutation(s) in,Assessed
370396,Small cell carcinoma of the ovary,SMARCA4,SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4,Disease-causing germline mutation(s) in,Assessed
370348,Peripheral primitive neuroectodermal tumor,FLI1,"Fli-1 proto-oncogene, ETS transcription factor",Part of a fusion gene in,Assessed
370334,Extraskeletal Ewing sarcoma,ERG,ETS transcription factor ERG,Part of a fusion gene in,Assessed
370334,Extraskeletal Ewing sarcoma,EWSR1,EWS RNA binding protein 1,Part of a fusion gene in,Assessed
370334,Extraskeletal Ewing sarcoma,FLI1,"Fli-1 proto-oncogene, ETS transcription factor",Part of a fusion gene in,Assessed
370334,Extraskeletal Ewing sarcoma,SMARCA5,SNF2 related chromatin remodeling ATPase 5,Part of a fusion gene in,Assessed
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,LAMA1,laminin subunit alpha 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,CREBBP,CREB binding lysine acetyltransferase,Part of a fusion gene in,Assessed
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,KAT6A,lysine acetyltransferase 6A,Part of a fusion gene in,Assessed
370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",RPL13,ribosomal protein L13,Disease-causing germline mutation(s) (loss of function) in,Assessed
370088,Acute infantile liver failure-multisystemic involvement syndrome,LARS1,leucyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,DAG1,dystroglycan 1,Disease-causing germline mutation(s) in,Assessed
370921,STT3A-CDG,STT3A,STT3 oligosaccharyltransferase complex catalytic subunit A,Disease-causing germline mutation(s) in,Assessed
370924,STT3B-CDG,STT3B,STT3 oligosaccharyltransferase complex catalytic subunit B,Disease-causing germline mutation(s) in,Assessed
370927,SSR4-CDG,SSR4,signal sequence receptor subunit 4,Disease-causing germline mutation(s) in,Assessed
370930,XYLT1-CDG,XYLT1,xylosyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
370959,Congenital muscular dystrophy with cerebellar involvement,POMGNT1,"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",Disease-causing germline mutation(s) in,Assessed
370959,Congenital muscular dystrophy with cerebellar involvement,POMT1,protein O-mannosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
370959,Congenital muscular dystrophy with cerebellar involvement,POMT2,protein O-mannosyltransferase 2,Disease-causing germline mutation(s) in,Assessed
370959,Congenital muscular dystrophy with cerebellar involvement,FKRP,fukutin related protein,Disease-causing germline mutation(s) in,Assessed
370959,Congenital muscular dystrophy with cerebellar involvement,POMK,protein O-mannose kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
370959,Congenital muscular dystrophy with cerebellar involvement,GMPPB,GDP-mannose pyrophosphorylase B,Disease-causing germline mutation(s) in,Assessed
370968,Congenital muscular dystrophy with intellectual disability,POMT1,protein O-mannosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
370968,Congenital muscular dystrophy with intellectual disability,POMT2,protein O-mannosyltransferase 2,Disease-causing germline mutation(s) in,Assessed
370968,Congenital muscular dystrophy with intellectual disability,FKRP,fukutin related protein,Disease-causing germline mutation(s) in,Assessed
370968,Congenital muscular dystrophy with intellectual disability,LARGE1,LARGE xylosyl- and glucuronyltransferase 1,Disease-causing germline mutation(s) in,Assessed
370968,Congenital muscular dystrophy with intellectual disability,GMPPB,GDP-mannose pyrophosphorylase B,Disease-causing germline mutation(s) in,Assessed
370980,Congenital muscular dystrophy without intellectual disability,POMT1,protein O-mannosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
370980,Congenital muscular dystrophy without intellectual disability,FKTN,fukutin,Disease-causing germline mutation(s) in,Assessed
370980,Congenital muscular dystrophy without intellectual disability,FKRP,fukutin related protein,Disease-causing germline mutation(s) in,Assessed
370980,Congenital muscular dystrophy without intellectual disability,CRPPA,CDP-L-ribitol pyrophosphorylase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
370933,GM3 synthase deficiency,ST3GAL5,"ST3 beta-galactoside alpha-2,3-sialyltransferase 5",Disease-causing germline mutation(s) (loss of function) in,Assessed
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,SLC35A3,solute carrier family 35 member A3,Disease-causing germline mutation(s) in,Assessed
369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,CACNA1D,calcium voltage-gated channel subunit alpha1 D,Disease-causing germline mutation(s) (gain of function) in,Assessed
369920,Pontocerebellar hypoplasia type 9,AMPD2,adenosine monophosphate deaminase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
369942,CADDS,ABCD1,ATP binding cassette subfamily D member 1,Role in the phenotype of,Assessed
369942,CADDS,BCAP31,B cell receptor associated protein 31,Role in the phenotype of,Assessed
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,BCAP31,B cell receptor associated protein 31,Disease-causing germline mutation(s) (loss of function) in,Assessed
369955,"Methylmalonic acidemia with homocystinuria, type cblJ",ABCD4,ATP binding cassette subfamily D member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,ADAMTS18,ADAM metallopeptidase with thrombospondin type 1 motif 18,Disease-causing germline mutation(s) in,Assessed
369962,"Methylmalonic acidemia with homocystinuria, type cblX",HCFC1,host cell factor C1,Disease-causing germline mutation(s) in,Assessed
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,DSG1,desmoglein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
370002,Focal palmoplantar keratoderma with joint keratoses,DSG1,desmoglein 1,Disease-causing germline mutation(s) in,Assessed
369999,Diffuse palmoplantar keratoderma with painful fissures,DSG1,desmoglein 1,Disease-causing germline mutation(s) in,Assessed
369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,PIGT,phosphatidylinositol glycan anchor biosynthesis class T,Disease-causing germline mutation(s) in,Assessed
369840,TRAPPC11-related limb-girdle muscular dystrophy R18,TRAPPC11,trafficking protein particle complex subunit 11,Disease-causing germline mutation(s) in,Assessed
369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,TRAPPC11,trafficking protein particle complex subunit 11,Disease-causing germline mutation(s) in,Assessed
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,VPS45,vacuolar protein sorting 45 homolog,Disease-causing germline mutation(s) in,Assessed
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,TRNT1,tRNA nucleotidyl transferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,PLEKHG5,pleckstrin homology and RhoGEF domain containing G5,Disease-causing germline mutation(s) in,Assessed
369873,Obesity due to SIM1 deficiency,SIM1,SIM bHLH transcription factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
369881,2p21 microdeletion syndrome without cystinuria,PREPL,prolyl endopeptidase like,Role in the phenotype of,Assessed
369881,2p21 microdeletion syndrome without cystinuria,CAMKMT,calmodulin-lysine N-methyltransferase,Role in the phenotype of,Assessed
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,MED13L,mediator complex subunit 13L,Disease-causing germline mutation(s) (loss of function) in,Assessed
369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",FBXL4,F-box and leucine rich repeat protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
369913,Combined oxidative phosphorylation defect type 17,ELAC2,elaC ribonuclease Z 2,Disease-causing germline mutation(s) in,Assessed
364063,Infantile epileptic-dyskinetic encephalopathy,ARX,aristaless related homeobox,Disease-causing germline mutation(s) (loss of function) in,Assessed
364055,Severe early-childhood-onset retinal dystrophy,RPE65,retinoid isomerohydrolase RPE65,Disease-causing germline mutation(s) in,Assessed
364055,Severe early-childhood-onset retinal dystrophy,LCA5,lebercilin LCA5,Disease-causing germline mutation(s) in,Assessed
364055,Severe early-childhood-onset retinal dystrophy,LRAT,lecithin retinol acyltransferase,Disease-causing germline mutation(s) in,Assessed
364055,Severe early-childhood-onset retinal dystrophy,SPATA7,spermatogenesis associated 7,Disease-causing germline mutation(s) in,Assessed
364043,ALK-positive large B-cell lymphoma,ALK,ALK receptor tyrosine kinase,Part of a fusion gene in,Not yet assessed
364028,X-linked intellectual disability due to GRIA3 mutations,GRIA3,glutamate ionotropic receptor AMPA type subunit 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
772,Infantile Refsum disease,PEX2,peroxisomal biogenesis factor 2,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX1,peroxisomal biogenesis factor 1,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX10,peroxisomal biogenesis factor 10,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX12,peroxisomal biogenesis factor 12,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX13,peroxisomal biogenesis factor 13,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX14,peroxisomal biogenesis factor 14,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX16,peroxisomal biogenesis factor 16,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX19,peroxisomal biogenesis factor 19,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX26,peroxisomal biogenesis factor 26,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX3,peroxisomal biogenesis factor 3,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX5,peroxisomal biogenesis factor 5,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX6,peroxisomal biogenesis factor 6,Disease-causing germline mutation(s) in,Assessed
772,Infantile Refsum disease,PEX11B,peroxisomal biogenesis factor 11 beta,Disease-causing germline mutation(s) in,Assessed
1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,TMEM70,transmembrane protein 70,Disease-causing germline mutation(s) in,Assessed
363999,Non-immune hydrops fetalis,ANGPT2,angiopoietin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
363999,Non-immune hydrops fetalis,THSD1,thrombospondin type 1 domain containing 1,Disease-causing germline mutation(s) in,Assessed
363999,Non-immune hydrops fetalis,CALCRL,calcitonin receptor like receptor,Disease-causing germline mutation(s) in,Assessed
363989,Familial benign flecked retina,PLA2G5,phospholipase A2 group V,Disease-causing germline mutation(s) in,Assessed
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,ADAMTS17,ADAM metallopeptidase with thrombospondin type 1 motif 17,Role in the phenotype of,Assessed
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,CERS3,ceramide synthase 3,Role in the phenotype of,Assessed
363981,Charcot-Marie-Tooth disease type 4B3,SBF1,SET binding factor 1,Disease-causing germline mutation(s) in,Assessed
363969,Autosomal recessive cerebral atrophy,TMPRSS4,transmembrane serine protease 4,Disease-causing germline mutation(s) in,Assessed
363972,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,CBL,Cbl proto-oncogene,Disease-causing germline mutation(s) in,Assessed
363965,Koolen-De Vries syndrome due to a point mutation,KANSL1,KAT8 regulatory NSL complex subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
363958,17q21.31 microdeletion syndrome,KANSL1,KAT8 regulatory NSL complex subunit 1,Role in the phenotype of,Assessed
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,GATA1,GATA binding protein 1,Disease-causing germline mutation(s) in,Assessed
363722,Alexander disease type II,GFAP,glial fibrillary acidic protein,Disease-causing germline mutation(s) (gain of function) in,Assessed
363717,Alexander disease type I,GFAP,glial fibrillary acidic protein,Disease-causing germline mutation(s) (gain of function) in,Assessed
363710,Spinocerebellar ataxia type 37,DAB1,DAB adaptor protein 1,Disease-causing germline mutation(s) in,Assessed
363710,Spinocerebellar ataxia type 37,SCA37,spinocerebellar ataxia 37,Disease-causing germline mutation(s) in,Assessed
363700,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,NF1,neurofibromin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,SARS2,"seryl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,GATAD2B,GATA zinc finger domain containing 2B,Disease-causing germline mutation(s) (loss of function) in,Assessed
363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,MYH2,myosin heavy chain 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
363417,Temtamy preaxial brachydactyly syndrome,CHSY1,chondroitin sulfate synthase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,DNM2,dynamin 2,Disease-causing germline mutation(s) in,Assessed
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,DARS1,aspartyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,GRID2,glutamate ionotropic receptor delta type subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
363424,Multiple mitochondrial dysfunctions syndrome type 3,IBA57,iron-sulfur cluster assembly factor IBA57,Disease-causing germline mutation(s) in,Assessed
363396,High myopia-sensorineural deafness syndrome,SLITRK6,SLIT and NTRK like family member 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
363400,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,BSCL2,"BSCL2 lipid droplet biogenesis associated, seipin",Disease-causing germline mutation(s) in,Assessed
363618,LMNA-related cardiocutaneous progeria syndrome,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
363623,GMPPB-related limb-girdle muscular dystrophy R19,GMPPB,GDP-mannose pyrophosphorylase B,Disease-causing germline mutation(s) in,Assessed
363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,POLD1,"DNA polymerase delta 1, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
363654,X-linked parkinsonism-spasticity syndrome,ATP6AP2,ATPase H+ transporting accessory protein 2,Disease-causing germline mutation(s) in,Assessed
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,PDGFRB,platelet derived growth factor receptor beta,Disease-causing germline mutation(s) (gain of function) in,Assessed
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,CLCN2,chloride voltage-gated channel 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
363549,Acute encephalopathy with biphasic seizures and late reduced diffusion,ADORA2A,adenosine A2a receptor,Major susceptibility factor in,Assessed
363611,CTCF-related neurodevelopmental disorder,CTCF,CCCTC-binding factor,Disease-causing germline mutation(s) in,Assessed
363494,Non-seminomatous germ cell tumor of testis,KITLG,KIT ligand,Major susceptibility factor in,Assessed
363494,Non-seminomatous germ cell tumor of testis,SPRY4,sprouty RTK signaling antagonist 4,Major susceptibility factor in,Assessed
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,COG6,component of oligomeric golgi complex 6,Disease-causing germline mutation(s) in,Assessed
363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",TWNK,twinkle mtDNA helicase,Disease-causing germline mutation(s) in,Assessed
363528,Intellectual disability-strabismus syndrome,ADAT3,adenosine deaminase tRNA specific 3,Disease-causing germline mutation(s) in,Assessed
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,THOC6,THO complex subunit 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,BICD2,BICD cargo adaptor 2,Disease-causing germline mutation(s) in,Assessed
357329,Combined immunodeficiency due to IL21R deficiency,IL21R,interleukin 21 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
357237,Combined immunodeficiency due to CARD11 deficiency,CARD11,caspase recruitment domain family member 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
356978,"D,L-2-hydroxyglutaric aciduria",SLC25A1,solute carrier family 25 member 1,Disease-causing germline mutation(s) in,Assessed
356961,SLC35A2-CDG,SLC35A2,solute carrier family 35 member A2,Disease-causing germline mutation(s) in,Assessed
357008,Hemolytic uremic syndrome with DGKE deficiency,DGKE,diacylglycerol kinase epsilon,Disease-causing germline mutation(s) (loss of function) in,Assessed
356996,ANK3-related intellectual disability-sleep disturbance syndrome,ANK3,ankyrin 3,Disease-causing germline mutation(s) in,Assessed
357043,Amyotrophic lateral sclerosis type 4,SETX,senataxin,Disease-causing germline mutation(s) in,Assessed
357034,Non-hereditary retinoblastoma,RB1,RB transcriptional corepressor 1,Disease-causing somatic mutation(s) in,Assessed
357034,Non-hereditary retinoblastoma,MYCN,"MYCN proto-oncogene, bHLH transcription factor",Candidate gene tested in,Not yet assessed
357027,Hereditary retinoblastoma,RB1,RB transcriptional corepressor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
357027,Hereditary retinoblastoma,MYCN,"MYCN proto-oncogene, bHLH transcription factor",Candidate gene tested in,Not yet assessed
357074,"Autosomal recessive cutis laxa type 2, classic type",ATP6V1E1,ATPase H+ transporting V1 subunit E1,Disease-causing germline mutation(s) in,Assessed
357074,"Autosomal recessive cutis laxa type 2, classic type",ATP6V1A,ATPase H+ transporting V1 subunit A,Disease-causing germline mutation(s) in,Assessed
357074,"Autosomal recessive cutis laxa type 2, classic type",ATP6V0A2,ATPase H+ transporting V0 subunit a2,Disease-causing germline mutation(s) (loss of function) in,Assessed
357064,Autosomal recessive cutis laxa type 2B,PYCR1,pyrroline-5-carboxylate reductase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,UCHL1,ubiquitin C-terminal hydrolase L1,Disease-causing germline mutation(s) (loss of function) in,Assessed
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,NLRP1,NLR family pyrin domain containing 1,Disease-causing germline mutation(s) in,Assessed
352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,GBA2,glucosylceramidase beta 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
352649,Brain dopamine-serotonin vesicular transport disease,SLC18A2,solute carrier family 18 member A2,Disease-causing germline mutation(s) (loss of function) in,Assessed
352596,Progressive myoclonic epilepsy with dystonia,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) (loss of function) in,Assessed
352577,Bainbridge-Ropers syndrome,ASXL3,ASXL transcriptional regulator 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) in,Assessed
352582,Familial infantile myoclonic epilepsy,CPLX1,complexin 1,Disease-causing germline mutation(s) in,Assessed
352582,Familial infantile myoclonic epilepsy,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) (loss of function) in,Assessed
352582,Familial infantile myoclonic epilepsy,SCN8A,sodium voltage-gated channel alpha subunit 8,Disease-causing germline mutation(s) in,Assessed
352734,Minimal pigment oculocutaneous albinism type 1,TYR,tyrosinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
352737,Temperature-sensitive oculocutaneous albinism type 1,TYR,tyrosinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
352709,CLN13 disease,CTSF,cathepsin F,Disease-causing germline mutation(s) in,Assessed
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,POLE,"DNA polymerase epsilon, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
352718,Progressive retinal dystrophy due to retinol transport defect,RBP4,retinol binding protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
352723,Attenuated Chédiak-Higashi syndrome,LYST,lysosomal trafficking regulator,Disease-causing germline mutation(s) in,Assessed
352665,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,HNRNPK,heterogeneous nuclear ribonucleoprotein K,Role in the phenotype of,Assessed
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,GNB4,G protein subunit beta 4,Disease-causing germline mutation(s) in,Assessed
352675,X-linked Charcot-Marie-Tooth disease type 6,PDK3,pyruvate dehydrogenase kinase 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
352682,Cobblestone lissencephaly without muscular or ocular involvement,LAMB1,laminin subunit beta 1,Disease-causing germline mutation(s) in,Assessed
352682,Cobblestone lissencephaly without muscular or ocular involvement,TMTC3,transmembrane O-mannosyltransferase targeting cadherins 3,Disease-causing germline mutation(s) in,Assessed
353277,Rubinstein-Taybi syndrome due to CREBBP mutations,CREBBP,CREB binding lysine acetyltransferase,Disease-causing germline mutation(s) in,Assessed
353220,Familial primary localized cutaneous amyloidosis,OSMR,oncostatin M receptor,Disease-causing germline mutation(s) in,Assessed
353220,Familial primary localized cutaneous amyloidosis,IL31RA,interleukin 31 receptor A,Disease-causing germline mutation(s) in,Assessed
353217,Epileptic encephalopathy with global cerebral demyelination,SLC25A12,solute carrier family 25 member 12,Disease-causing germline mutation(s) in,Assessed
352745,Oculocutaneous albinism type 7,LRMDA,leucine rich melanocyte differentiation associated,Disease-causing germline mutation(s) in,Assessed
353320,"Pyruvate carboxylase deficiency, benign type",PC,pyruvate carboxylase,Disease-causing germline mutation(s) in,Assessed
353327,Congenital myasthenic syndrome with glycosylation defect,ALG2,"ALG2 alpha-1,3/1,6-mannosyltransferase",Disease-causing germline mutation(s) in,Assessed
353327,Congenital myasthenic syndrome with glycosylation defect,DPAGT1,dolichyl-phosphate N-acetylglucosaminephosphotransferase 1,Disease-causing germline mutation(s) in,Assessed
353327,Congenital myasthenic syndrome with glycosylation defect,GFPT1,glutamine--fructose-6-phosphate transaminase 1,Disease-causing germline mutation(s) in,Assessed
353327,Congenital myasthenic syndrome with glycosylation defect,ALG14,ALG14 UDP-N-acetylglucosaminyltransferase subunit,Disease-causing germline mutation(s) in,Assessed
353327,Congenital myasthenic syndrome with glycosylation defect,GMPPB,GDP-mannose pyrophosphorylase B,Disease-causing germline mutation(s) in,Assessed
353308,"Pyruvate carboxylase deficiency, infantile type",PC,pyruvate carboxylase,Disease-causing germline mutation(s) in,Assessed
353314,"Pyruvate carboxylase deficiency, severe neonatal type",PC,pyruvate carboxylase,Disease-causing germline mutation(s) in,Assessed
353298,Roifman syndrome,RNU4ATAC,"RNA, U4atac small nuclear",Disease-causing germline mutation(s) in,Assessed
353281,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,CREBBP,CREB binding lysine acetyltransferase,Role in the phenotype of,Assessed
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,EP300,EP300 lysine acetyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
352403,Spectrin-associated autosomal recessive cerebellar ataxia,SPTBN2,"spectrin beta, non-erythrocytic 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,ELOVL4,ELOVL fatty acid elongase 4,Disease-causing germline mutation(s) in,Assessed
352328,MEGDEL syndrome,SERAC1,serine active site containing 1,Disease-causing germline mutation(s) in,Assessed
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,MGME1,mitochondrial genome maintenance exonuclease 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
352530,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,TRAPPC9,trafficking protein particle complex subunit 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,MRPL44,mitochondrial ribosomal protein L44,Disease-causing germline mutation(s) in,Assessed
352479,ISPD-related limb-girdle muscular dystrophy R20,CRPPA,CDP-L-ribitol pyrophosphorylase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
352470,DNA2-related mitochondrial DNA deletion syndrome,DNA2,DNA replication helicase/nuclease 2,Disease-causing germline mutation(s) in,Assessed
352490,Autism spectrum disorder due to AUTS2 deficiency,AUTS2,activator of transcription and developmental regulator AUTS2,Disease-causing germline mutation(s) in,Assessed
294415,Renal-hepatic-pancreatic dysplasia,NPHP3,nephrocystin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
294415,Renal-hepatic-pancreatic dysplasia,NEK8,NIMA related kinase 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
294016,Microcephaly-capillary malformation syndrome,STAMBP,STAM binding protein,Disease-causing germline mutation(s) in,Assessed
294023,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,ADAM17,ADAM metallopeptidase domain 17,Disease-causing germline mutation(s) (loss of function) in,Assessed
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,AKT2,AKT serine/threonine kinase 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,NFKB2,nuclear factor kappa B subunit 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,TPK1,thiamin pyrophosphokinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
293948,1p21.3 microdeletion syndrome,DPYD,dihydropyrimidine dehydrogenase,Role in the phenotype of,Assessed
293936,EDICT syndrome,MIR184,microRNA 184,Disease-causing germline mutation(s) in,Assessed
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,CYP26B1,cytochrome P450 family 26 subfamily B member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",TTN,titin,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",PKP2,plakophilin 2,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",RYR2,ryanodine receptor 2,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",TGFB3,transforming growth factor beta 3,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",DSC2,desmocollin 2,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",DSG2,desmoglein 2,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",JUP,junction plakoglobin,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",LDB3,LIM domain binding 3,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",LMNA,lamin A/C,Disease-causing germline mutation(s) in,Not yet assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",TMEM43,transmembrane protein 43,Disease-causing germline mutation(s) (loss of function) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",CTNNA3,catenin alpha 3,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",PLN,phospholamban,Disease-causing germline mutation(s) in,Assessed
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",CDH2,cadherin 2,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",TTN,titin,Disease-causing germline mutation(s) (loss of function) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",TMEM43,transmembrane protein 43,Disease-causing germline mutation(s) (loss of function) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",CTNNA3,catenin alpha 3,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",DSG2,desmoglein 2,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",PKP2,plakophilin 2,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",RYR2,ryanodine receptor 2,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",TGFB3,transforming growth factor beta 3,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",DSC2,desmocollin 2,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",JUP,junction plakoglobin,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",LDB3,LIM domain binding 3,Disease-causing germline mutation(s) in,Assessed
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",LMNA,lamin A/C,Disease-causing germline mutation(s) in,Not yet assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",PKP2,plakophilin 2,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",DSC2,desmocollin 2,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",TTN,titin,Disease-causing germline mutation(s) (loss of function) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",TMEM43,transmembrane protein 43,Disease-causing germline mutation(s) (loss of function) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",RYR2,ryanodine receptor 2,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",TGFB3,transforming growth factor beta 3,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",DSG2,desmoglein 2,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",JUP,junction plakoglobin,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",LDB3,LIM domain binding 3,Disease-causing germline mutation(s) in,Assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",LMNA,lamin A/C,Disease-causing germline mutation(s) in,Not yet assessed
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",CTNNA3,catenin alpha 3,Disease-causing germline mutation(s) in,Assessed
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,RFX6,regulatory factor X6,Disease-causing germline mutation(s) in,Assessed
293843,3MC syndrome,COLEC10,collectin subfamily member 10,Disease-causing germline mutation(s) in,Assessed
293843,3MC syndrome,MASP1,MBL associated serine protease 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
293843,3MC syndrome,COLEC11,collectin subfamily member 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,MITF,melanocyte inducing transcription factor,Major susceptibility factor in,Assessed
293825,Congenital dyserythropoietic anemia type IV,KLF1,KLF transcription factor 1,Disease-causing germline mutation(s) in,Assessed
293707,"Blepharophimosis-intellectual disability syndrome, MKB type",MED12,mediator complex subunit 12,Disease-causing germline mutation(s) in,Assessed
293633,PYCR1-related De Barsy syndrome,PYCR1,pyrroline-5-carboxylate reductase 1,Disease-causing germline mutation(s) in,Assessed
289891,Hypermethioninemia due to glycine N-methyltransferase deficiency,GNMT,glycine N-methyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289863,Atypical glycine encephalopathy,SLC6A9,solute carrier family 6 member 9,Disease-causing germline mutation(s) in,Assessed
289863,Atypical glycine encephalopathy,AMT,aminomethyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289863,Atypical glycine encephalopathy,GCSH,glycine cleavage system protein H,Disease-causing germline mutation(s) in,Assessed
289863,Atypical glycine encephalopathy,GLDC,glycine decarboxylase,Disease-causing germline mutation(s) in,Assessed
289916,Vitamin B12-unresponsive methylmalonic acidemia type mut0,MMUT,methylmalonyl-CoA mutase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289857,Neonatal glycine encephalopathy,AMT,aminomethyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289857,Neonatal glycine encephalopathy,GCSH,glycine cleavage system protein H,Disease-causing germline mutation(s) in,Assessed
289857,Neonatal glycine encephalopathy,GLDC,glycine decarboxylase,Disease-causing germline mutation(s) in,Assessed
289860,Infantile glycine encephalopathy,SLC6A9,solute carrier family 6 member 9,Disease-causing germline mutation(s) in,Assessed
289860,Infantile glycine encephalopathy,AMT,aminomethyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289860,Infantile glycine encephalopathy,GCSH,glycine cleavage system protein H,Disease-causing germline mutation(s) in,Assessed
289860,Infantile glycine encephalopathy,GLDC,glycine decarboxylase,Disease-causing germline mutation(s) in,Assessed
289846,Glutathione synthetase deficiency with 5-oxoprolinuria,GSS,glutathione synthetase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289849,Glutathione synthetase deficiency without 5-oxoprolinuria,GSS,glutathione synthetase,Disease-causing germline mutation(s) in,Assessed
289560,Mitochondrial membrane protein-associated neurodegeneration,C19ORF12,chromosome 19 open reading frame 12,Disease-causing germline mutation(s) in,Assessed
289548,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,CYP11A1,cytochrome P450 family 11 subfamily A member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
289539,BAP1-related tumor predisposition syndrome,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing germline mutation(s) in,Assessed
289601,Hereditary arterial and articular multiple calcification syndrome,NT5E,5'-nucleotidase ecto,Disease-causing germline mutation(s) (loss of function) in,Assessed
289586,Exfoliative ichthyosis,SERPINB8,serpin family B member 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
289586,Exfoliative ichthyosis,CSTA,cystatin A,Disease-causing germline mutation(s) (loss of function) in,Assessed
293381,Epithelial recurrent erosion dystrophy,COL17A1,collagen type XVII alpha 1 chain,Disease-causing germline mutation(s) (gain of function) in,Assessed
293603,Congenital hereditary endothelial dystrophy type II,SLC4A11,solute carrier family 4 member 11,Disease-causing germline mutation(s) in,Assessed
811,Shwachman-Diamond syndrome,SBDS,SBDS ribosome maturation factor,Disease-causing germline mutation(s) in,Assessed
811,Shwachman-Diamond syndrome,EFL1,elongation factor like GTPase 1,Disease-causing germline mutation(s) in,Assessed
811,Shwachman-Diamond syndrome,DNAJC21,DnaJ heat shock protein family (Hsp40) member C21,Disease-causing germline mutation(s) in,Assessed
293150,Familial clubfoot due to PITX1 point mutation,PITX1,paired like homeodomain 1,Disease-causing germline mutation(s) in,Assessed
741,Familial mitral valve prolapse,DCHS1,dachsous cadherin-related 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
293144,Familial clubfoot due to 5q31 microdeletion,PITX1,paired like homeodomain 1,Role in the phenotype of,Assessed
293168,Infantile-onset ascending hereditary spastic paralysis,ALS2,alsin Rho guanine nucleotide exchange factor ALS2,Disease-causing germline mutation(s) in,Assessed
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
428,Autosomal dominant hypocalcemia,CASR,calcium sensing receptor,Disease-causing germline mutation(s) (gain of function) in,Assessed
428,Autosomal dominant hypocalcemia,GNA11,G protein subunit alpha 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,KCNQ2,potassium voltage-gated channel subfamily Q member 2,Disease-causing germline mutation(s) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,PIGA,phosphatidylinositol glycan anchor biosynthesis class A,Disease-causing germline mutation(s) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,SLC25A22,solute carrier family 25 member 22,Disease-causing germline mutation(s) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) (loss of function) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,PLCB1,phospholipase C beta 1,Disease-causing germline mutation(s) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,KCNT1,potassium sodium-activated channel subfamily T member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
293181,Epilepsy of infancy with migrating focal seizures,SLC12A5,solute carrier family 12 member 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
293199,Pleomorphic rhabdomyosarcoma,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
293199,Pleomorphic rhabdomyosarcoma,NF1,neurofibromin 1,Disease-causing somatic mutation(s) in,Assessed
393,"46,XX testicular difference of sex development",SOX9,SRY-box transcription factor 9,Disease-causing germline mutation(s) in,Assessed
393,"46,XX testicular difference of sex development",SRY,sex determining region Y,Disease-causing germline mutation(s) in,Assessed
393,"46,XX testicular difference of sex development",SOX3,SRY-box transcription factor 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
393,"46,XX testicular difference of sex development",NR0B1,nuclear receptor subfamily 0 group B member 1,Role in the phenotype of,Assessed
393,"46,XX testicular difference of sex development",NR5A1,nuclear receptor subfamily 5 group A member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
293284,Tetrahydrobiopterin-responsive phenylketonuria,PAH,phenylalanine hydroxylase,Disease-causing germline mutation(s) in,Assessed
2394,Pyruvate dehydrogenase E3 deficiency,DLD,dihydrolipoamide dehydrogenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
2686,Cyclic neutropenia,ELANE,"elastase, neutrophil expressed",Disease-causing germline mutation(s) in,Assessed
284414,"Glycerol kinase deficiency, adult form",GK,glycerol kinase,Disease-causing germline mutation(s) in,Assessed
284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",PSAT1,phosphoserine aminotransferase 1,Disease-causing germline mutation(s) in,Assessed
284426,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,LDHA,lactate dehydrogenase A,Disease-causing germline mutation(s) in,Assessed
284435,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,LDHB,lactate dehydrogenase B,Disease-causing germline mutation(s) in,Assessed
284973,Marfan syndrome type 2,TGFBR1,transforming growth factor beta receptor 1,Disease-causing germline mutation(s) in,Assessed
284973,Marfan syndrome type 2,TGFBR2,transforming growth factor beta receptor 2,Disease-causing germline mutation(s) in,Assessed
284963,Marfan syndrome type 1,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
284984,Aneurysm-osteoarthritis syndrome,SMAD3,SMAD family member 3,Disease-causing germline mutation(s) in,Assessed
284979,Neonatal Marfan syndrome,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
289365,Familial vesicoureteral reflux,TNXB,tenascin XB,Disease-causing germline mutation(s) in,Assessed
289365,Familial vesicoureteral reflux,ROBO2,roundabout guidance receptor 2,Disease-causing germline mutation(s) in,Assessed
289365,Familial vesicoureteral reflux,SOX17,SRY-box transcription factor 17,Disease-causing germline mutation(s) in,Assessed
289377,Early-onset myopathy with fatal cardiomyopathy,TTN,titin,Disease-causing germline mutation(s) in,Assessed
289380,Myosclerosis,COL6A2,collagen type VI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,ADK,adenosine kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
289266,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,GRIN2A,glutamate ionotropic receptor NMDA type subunit 2A,Disease-causing germline mutation(s) in,Assessed
289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,ALDH6A1,aldehyde dehydrogenase 6 family member A1,Disease-causing germline mutation(s) in,Assessed
289504,Combined malonic and methylmalonic acidemia,ACSF3,acyl-CoA synthetase family member 3,Disease-causing germline mutation(s) in,Assessed
289499,Congenital cataract microcornea with corneal opacity,PXDN,peroxidasin,Disease-causing germline mutation(s) (loss of function) in,Assessed
289499,Congenital cataract microcornea with corneal opacity,ATOH7,atonal bHLH transcription factor 7,Disease-causing germline mutation(s) in,Assessed
289513,12q15q21 microdeletion syndrome,CNOT2,CCR4-NOT transcription complex subunit 2,Role in the phenotype of,Assessed
289465,Isolated congenital adermatoglyphia,SMARCAD1,SNF2 related chromatin remodeling ATPase with DExD box 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
289478,PASH syndrome,NCSTN,nicastrin,Disease-causing germline mutation(s) in,Assessed
289176,Autosomal recessive hypophosphatemic rickets,DMP1,dentin matrix acidic phosphoprotein 1,Disease-causing germline mutation(s) in,Assessed
289176,Autosomal recessive hypophosphatemic rickets,ENPP1,ectonucleotide pyrophosphatase/phosphodiesterase 1,Disease-causing germline mutation(s) in,Assessed
289157,Hypocalcemic vitamin D-dependent rickets,CYP27B1,cytochrome P450 family 27 subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
289157,Hypocalcemic vitamin D-dependent rickets,CYP2R1,cytochrome P450 family 2 subfamily R member 1,Disease-causing germline mutation(s) in,Assessed
281090,Syndromic recessive X-linked ichthyosis,STS,steroid sulfatase,Role in the phenotype of,Assessed
281190,Congenital reticular ichthyosiform erythroderma,KRT1,keratin 1,Disease-causing germline mutation(s) in,Assessed
281190,Congenital reticular ichthyosiform erythroderma,KRT10,keratin 10,Disease-causing germline mutation(s) in,Assessed
281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,POMP,proteasome maturation protein,Disease-causing germline mutation(s) in,Assessed
281139,Annular epidermolytic ichthyosis,KRT10,keratin 10,Disease-causing germline mutation(s) in,Assessed
281139,Annular epidermolytic ichthyosis,KRT1,keratin 1,Disease-causing germline mutation(s) in,Assessed
281122,Self-improving collodion baby,ALOX12B,"arachidonate 12-lipoxygenase, 12R type",Disease-causing germline mutation(s) in,Assessed
281122,Self-improving collodion baby,ALOXE3,arachidonate epidermal lipoxygenase 3,Disease-causing germline mutation(s) in,Assessed
281122,Self-improving collodion baby,TGM1,transglutaminase 1,Disease-causing germline mutation(s) in,Assessed
281127,Acral self-healing collodion baby,TGM1,transglutaminase 1,Disease-causing germline mutation(s) in,Assessed
280628,Familial progressive hyper- and hypopigmentation,KITLG,KIT ligand,Disease-causing germline mutation(s) in,Assessed
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,PIGN,phosphatidylinositol glycan anchor biosynthesis class N,Disease-causing germline mutation(s) in,Assessed
280615,Low oxygen affinity gamma chain hemoglobin disease,HBG2,hemoglobin subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
280598,Hereditary sensorimotor neuropathy with hyperelastic skin,FBLN5,fibulin 5,Disease-causing germline mutation(s) in,Assessed
280620,Progressive myoclonic epilepsy type 6,GOSR2,golgi SNAP receptor complex member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
280671,Megaconial congenital muscular dystrophy,CHKB,choline kinase beta,Disease-causing germline mutation(s) in,Assessed
280640,Occipital pachygyria and polymicrogyria,LAMC3,laminin subunit gamma 3,Disease-causing germline mutation(s) in,Assessed
280654,Autosomal recessive nail dysplasia,FZD6,frizzled class receptor 6,Disease-causing germline mutation(s) in,Assessed
280785,Bullous diffuse cutaneous mastocytosis,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,BRCC3,BRCA1/BRCA2-containing complex subunit 3,Role in the phenotype of,Assessed
280763,Severe intellectual disability and progressive spastic paraplegia,AP4M1,adaptor related protein complex 4 subunit mu 1,Disease-causing germline mutation(s) in,Assessed
280763,Severe intellectual disability and progressive spastic paraplegia,AP4E1,adaptor related protein complex 4 subunit epsilon 1,Disease-causing germline mutation(s) in,Assessed
280763,Severe intellectual disability and progressive spastic paraplegia,AP4B1,adaptor related protein complex 4 subunit beta 1,Disease-causing germline mutation(s) in,Assessed
280763,Severe intellectual disability and progressive spastic paraplegia,AP4S1,adaptor related protein complex 4 subunit sigma 1,Disease-causing germline mutation(s) in,Assessed
284149,Craniosynostosis-dental anomalies,IL11RA,interleukin 11 receptor subunit alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
284139,"Larsen-like syndrome, B3GAT3 type",B3GAT3,"beta-1,3-glucuronyltransferase 3",Disease-causing germline mutation(s) in,Assessed
284169,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,WAC,WW domain containing adaptor with coiled-coil,Role in the phenotype of,Assessed
284247,Familial retinal arterial macroaneurysm,IGFBP7,insulin like growth factor binding protein 7,Disease-causing germline mutation(s) in,Assessed
284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,DYNC1H1,dynein cytoplasmic 1 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,SYT14,synaptotagmin 14,Disease-causing germline mutation(s) in,Assessed
284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,TPP1,tripeptidyl peptidase 1,Disease-causing germline mutation(s) in,Assessed
284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,WWOX,WW domain containing oxidoreductase,Disease-causing germline mutation(s) (loss of function) in,Assessed
284289,Adult-onset autosomal recessive cerebellar ataxia,ANO10,anoctamin 10,Disease-causing germline mutation(s) in,Assessed
284343,DICER1 tumor-predisposition syndrome,DICER1,"dicer 1, ribonuclease III",Disease-causing germline mutation(s) (loss of function) in,Assessed
284339,Pontocerebellar hypoplasia type 7,TOE1,"target of EGR1, exonuclease",Disease-causing germline mutation(s) (loss of function) in,Assessed
284339,Pontocerebellar hypoplasia type 7,MINPP1,multiple inositol-polyphosphate phosphatase 1,Disease-causing germline mutation(s) in,Assessed
284411,"Glycerol kinase deficiency, juvenile form",GK,glycerol kinase,Disease-causing germline mutation(s) in,Assessed
282166,Inherited Creutzfeldt-Jakob disease,PRNP,prion protein (Kanno blood group),Disease-causing germline mutation(s) in,Assessed
309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,SLC30A10,solute carrier family 30 member 10,Disease-causing germline mutation(s) in,Assessed
309803,Rhizomelic chondrodysplasia punctata type 3,AGPS,alkylglycerone phosphate synthase,Disease-causing germline mutation(s) in,Assessed
309789,Rhizomelic chondrodysplasia punctata type 1,PEX7,peroxisomal biogenesis factor 7,Disease-causing germline mutation(s) in,Assessed
309796,Rhizomelic chondrodysplasia punctata type 2,GNPAT,glyceronephosphate O-acyltransferase,Disease-causing germline mutation(s) in,Assessed
314029,High bone mass osteogenesis imperfecta,COL1A1,collagen type I alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
314029,High bone mass osteogenesis imperfecta,COL1A2,collagen type I alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
314029,High bone mass osteogenesis imperfecta,BMP1,bone morphogenetic protein 1,Disease-causing germline mutation(s) in,Assessed
314022,Gastric adenocarcinoma and proximal polyposis of the stomach,APC,APC regulator of Wnt signaling pathway,Disease-causing germline mutation(s) in,Assessed
313892,Developmental and speech delay due to SOX5 deficiency,SOX5,SRY-box transcription factor 5,Disease-causing germline mutation(s) in,Assessed
313884,12p12.1 microdeletion syndrome,SOX5,SRY-box transcription factor 5,Role in the phenotype of,Assessed
313855,FGFR2-related bent bone dysplasia,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) in,Assessed
313850,Infantile cerebellar-retinal degeneration,ACO2,aconitase 2,Disease-causing germline mutation(s) in,Assessed
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,ATR,ATR checkpoint kinase,Disease-causing germline mutation(s) in,Assessed
313838,Coats plus syndrome,CTC1,CST telomere replication complex component 1,Disease-causing germline mutation(s) in,Assessed
313838,Coats plus syndrome,STN1,STN1 subunit of CST complex,Disease-causing germline mutation(s) (loss of function) in,Assessed
313800,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,ALPK1,alpha kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,AARS2,"alanyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,CSF1R,colony stimulating factor 1 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
313795,Jawad syndrome,RBBP8,"RB binding protein 8, endonuclease",Disease-causing germline mutation(s) in,Assessed
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,AFG3L2,AFG3 like matrix AAA peptidase subunit 2,Disease-causing germline mutation(s) in,Assessed
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,MARS2,"methionyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
314597,Chudley-McCullough syndrome,GPSM2,G protein signaling modulator 2,Disease-causing germline mutation(s) in,Assessed
314485,Young adult-onset distal hereditary motor neuropathy,DNAJB2,DnaJ heat shock protein family (Hsp40) member B2,Disease-causing germline mutation(s) (loss of function) in,Assessed
314485,Young adult-onset distal hereditary motor neuropathy,VWA1,von Willebrand factor A domain containing 1,Disease-causing germline mutation(s) in,Assessed
314555,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,IRX5,iroquois homeobox 5,Disease-causing germline mutation(s) in,Assessed
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,POC1A,POC1 centriolar protein A,Disease-causing germline mutation(s) in,Assessed
314399,Autosomal dominant aplasia and myelodysplasia,SRP72,signal recognition particle 72,Disease-causing germline mutation(s) in,Assessed
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,DNMT1,DNA methyltransferase 1,Disease-causing germline mutation(s) in,Assessed
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,GUCY2C,guanylate cyclase 2C,Disease-causing germline mutation(s) in,Assessed
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,GUCY2C,guanylate cyclase 2C,Disease-causing germline mutation(s) in,Assessed
314381,Hereditary sensory and autonomic neuropathy type 6,DST,dystonin,Disease-causing germline mutation(s) in,Assessed
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,EARS2,"glutamyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
306674,Kufor-Rakeb syndrome,ATP13A2,ATPase cation transporting 13A2,Disease-causing germline mutation(s) (loss of function) in,Assessed
306734,"Primary dystonia, DYT21 type",DYT21,"dystonia 21, torsion (autosomal dominant)",Disease-causing germline mutation(s) in,Assessed
308380,Methylcobalamin deficiency type cblDv1,MMADHC,metabolism of cobalamin associated D,Disease-causing germline mutation(s) in,Assessed
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,MOCS1,molybdenum cofactor synthesis 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
308393,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,MOCS2,molybdenum cofactor synthesis 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
308400,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,GPHN,gephyrin,Disease-causing germline mutation(s) in,Assessed
308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,BCKDK,branched chain keto acid dehydrogenase kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,MCEE,methylmalonyl-CoA epimerase,Disease-causing germline mutation(s) in,Assessed
308698,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
308712,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
308670,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
308684,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
309015,Familial lipoprotein lipase deficiency,LPL,lipoprotein lipase,Disease-causing germline mutation(s) (loss of function) in,Assessed
309020,Familial apolipoprotein C-II deficiency,APOC2,apolipoprotein C2,Disease-causing germline mutation(s) (loss of function) in,Assessed
308487,Generalized galactose epimerase deficiency,GALE,UDP-galactose-4-epimerase,Disease-causing germline mutation(s) in,Assessed
178,Chordoma,PALB2,partner and localizer of BRCA2,Major susceptibility factor in,Assessed
178,Chordoma,BRCA2,BRCA2 DNA repair associated,Major susceptibility factor in,Assessed
178,Chordoma,TBXT,T-box transcription factor T,Major susceptibility factor in,Assessed
308473,Erythrocyte galactose epimerase deficiency,GALE,UDP-galactose-4-epimerase,Disease-causing germline mutation(s) in,Assessed
2637,Microcephalic osteodysplastic primordial dwarfism type II,PCNT,pericentrin,Disease-causing germline mutation(s) (loss of function) in,Assessed
308442,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",MMADHC,metabolism of cobalamin associated D,Disease-causing germline mutation(s) in,Assessed
308655,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
308638,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
308621,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",GBE1,"1,4-alpha-glucan branching enzyme 1",Disease-causing germline mutation(s) in,Assessed
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",GAA,alpha glucosidase,Disease-causing germline mutation(s) in,Assessed
309271,"Metachromatic leukodystrophy, adult form",PSAP,prosaposin,Disease-causing germline mutation(s) in,Assessed
309271,"Metachromatic leukodystrophy, adult form",ARSA,arylsulfatase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
309282,"Alpha-mannosidosis, infantile form",MAN2B1,mannosidase alpha class 2B member 1,Disease-causing germline mutation(s) in,Assessed
309288,"Alpha-mannosidosis, adult form",MAN2B1,mannosidase alpha class 2B member 1,Disease-causing germline mutation(s) in,Assessed
309246,"GM2 gangliosidosis, AB variant",GM2A,ganglioside GM2 activator,Disease-causing germline mutation(s) in,Assessed
309252,Atypical Gaucher disease due to saposin C deficiency,PSAP,prosaposin,Disease-causing germline mutation(s) in,Assessed
309256,"Metachromatic leukodystrophy, late infantile form",PSAP,prosaposin,Disease-causing germline mutation(s) in,Assessed
309256,"Metachromatic leukodystrophy, late infantile form",ARSA,arylsulfatase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
309263,"Metachromatic leukodystrophy, juvenile form",PSAP,prosaposin,Disease-causing germline mutation(s) in,Assessed
309263,"Metachromatic leukodystrophy, juvenile form",ARSA,arylsulfatase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
309324,"Free sialic acid storage disease, infantile form",SLC17A5,solute carrier family 17 member 5,Disease-causing germline mutation(s) in,Assessed
309331,Intermediate severe Salla disease,SLC17A5,solute carrier family 17 member 5,Disease-causing germline mutation(s) in,Assessed
309334,Salla disease,SLC17A5,solute carrier family 17 member 5,Disease-causing germline mutation(s) in,Assessed
309297,Mucopolysaccharidosis type 4A,GALNS,galactosamine (N-acetyl)-6-sulfatase,Disease-causing germline mutation(s) in,Assessed
309310,Mucopolysaccharidosis type 4B,GLB1,galactosidase beta 1,Disease-causing germline mutation(s) in,Assessed
309185,"Tay-Sachs disease, juvenile form",HEXA,hexosaminidase subunit alpha,Disease-causing germline mutation(s) in,Assessed
309178,"Tay-Sachs disease, infantile form",HEXA,hexosaminidase subunit alpha,Disease-causing germline mutation(s) in,Assessed
309192,"Tay-Sachs disease, adult form",HEXA,hexosaminidase subunit alpha,Disease-causing germline mutation(s) in,Assessed
309155,"Sandhoff disease, infantile form",HEXB,hexosaminidase subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
309169,"Sandhoff disease, adult form",HEXB,hexosaminidase subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
309162,"Sandhoff disease, juvenile form",HEXB,hexosaminidase subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
300547,Autosomal recessive infantile hypercalcemia,CYP24A1,cytochrome P450 family 24 subfamily A member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
300547,Autosomal recessive infantile hypercalcemia,SLC34A1,solute carrier family 34 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,TUBB3,tubulin beta 3 class III,Disease-causing germline mutation(s) in,Assessed
300573,Polymicrogyria due to TUBB2B mutation,TUBB2B,tubulin beta 2B class IIb,Disease-causing germline mutation(s) in,Assessed
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,PIGA,phosphatidylinositol glycan anchor biosynthesis class A,Disease-causing germline mutation(s) in,Assessed
300525,Pseudohypoaldosteronism type 2D,KLHL3,kelch like family member 3,Disease-causing germline mutation(s) in,Assessed
300530,Pseudohypoaldosteronism type 2E,CUL3,cullin 3,Disease-causing germline mutation(s) in,Assessed
300536,DDOST-CDG,DDOST,dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit,Disease-causing germline mutation(s) in,Assessed
300865,Primary cutaneous anaplastic large cell lymphoma,TYK2,tyrosine kinase 2,Part of a fusion gene in,Assessed
300865,Primary cutaneous anaplastic large cell lymphoma,NPM1,nucleophosmin 1,Part of a fusion gene in,Assessed
300878,Hairy cell leukemia variant,IGHV4-34,immunoglobulin heavy variable 4-34,Major susceptibility factor in,Assessed
300895,ALK-positive anaplastic large cell lymphoma,ALK,ALK receptor tyrosine kinase,Disease-causing somatic mutation(s) in,Assessed
300605,Juvenile amyotrophic lateral sclerosis,ALS2,alsin Rho guanine nucleotide exchange factor ALS2,Disease-causing germline mutation(s) in,Assessed
300605,Juvenile amyotrophic lateral sclerosis,SPG11,"SPG11 vesicle trafficking associated, spatacsin",Disease-causing germline mutation(s) in,Assessed
300605,Juvenile amyotrophic lateral sclerosis,SIGMAR1,sigma non-opioid intracellular receptor 1,Disease-causing germline mutation(s) in,Assessed
300605,Juvenile amyotrophic lateral sclerosis,FUS,FUS RNA binding protein,Disease-causing germline mutation(s) in,Assessed
300605,Juvenile amyotrophic lateral sclerosis,SPTLC1,serine palmitoyltransferase long chain base subunit 1,Disease-causing germline mutation(s) in,Assessed
300751,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
306550,FADD-related immunodeficiency,FADD,Fas associated via death domain,Disease-causing germline mutation(s) in,Assessed
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,ALX1,ALX homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,JAM3,junctional adhesion molecule 3,Disease-causing germline mutation(s) in,Assessed
306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,HOXB1,homeobox B1,Disease-causing germline mutation(s) in,Assessed
306511,Autosomal recessive spastic paraplegia type 48,AP5Z1,adaptor related protein complex 5 subunit zeta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
306504,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,ITGA3,integrin subunit alpha 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
306661,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,FGF23,fibroblast growth factor 23,Disease-causing germline mutation(s) (loss of function) in,Assessed
306661,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,GALNT3,polypeptide N-acetylgalactosaminyltransferase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
306661,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,KL,klotho,Disease-causing germline mutation(s) (loss of function) in,Assessed
306658,Familial normophosphatemic tumoral calcinosis,SAMD9,sterile alpha motif domain containing 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
306617,X-linked complicated spastic paraplegia type 1,L1CAM,L1 cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
306577,Hereditary sodium channelopathy-related small fibers neuropathy,SCN9A,sodium voltage-gated channel alpha subunit 9,Disease-causing germline mutation(s) (gain of function) in,Assessed
306577,Hereditary sodium channelopathy-related small fibers neuropathy,SCN10A,sodium voltage-gated channel alpha subunit 10,Disease-causing germline mutation(s) (gain of function) in,Assessed
306577,Hereditary sodium channelopathy-related small fibers neuropathy,SCN11A,sodium voltage-gated channel alpha subunit 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,IER3IP1,immediate early response 3 interacting protein 1,Disease-causing germline mutation(s) in,Assessed
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,YIPF5,Yip1 domain family member 5,Disease-causing germline mutation(s) in,Assessed
295195,Synpolydactyly type 1,HOXD13,homeobox D13,Disease-causing germline mutation(s) in,Assessed
295191,Zygodactyly type 3,HOXD13,homeobox D13,Disease-causing germline mutation(s) in,Assessed
295201,"Congenital vertical talus, unilateral",HOXD10,homeobox D10,Disease-causing germline mutation(s) in,Assessed
295203,"Congenital vertical talus, bilateral",HOXD10,homeobox D10,Disease-causing germline mutation(s) in,Assessed
295197,Synpolydactyly type 2,FBLN1,fibulin 1,Disease-causing germline mutation(s) in,Assessed
295239,"Macrodactyly of fingers, unilateral",PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
295243,"Macrodactyly of toes, unilateral",PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,FKBP14,FKBP prolyl isomerase 14,Disease-causing germline mutation(s) in,Assessed
300319,Charcot-Marie-Tooth disease type 2P,LRSAM1,leucine rich repeat and sterile alpha motif containing 1,Disease-causing germline mutation(s) in,Assessed
300324,Persistent polyclonal B-cell lymphocytosis,CARD11,caspase recruitment domain family member 11,Major susceptibility factor in,Assessed
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,SLC33A1,solute carrier family 33 member 1,Disease-causing germline mutation(s) in,Assessed
300298,Severe congenital hypochromic anemia with ringed sideroblasts,STEAP3,STEAP3 metalloreductase,Disease-causing germline mutation(s) in,Assessed
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,PLOD3,"procollagen-lysine,2-oxoglutarate 5-dioxygenase 3",Disease-causing germline mutation(s) in,Assessed
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,GPD1,glycerol-3-phosphate dehydrogenase 1,Disease-causing germline mutation(s) in,Assessed
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,CREB3L3,cAMP responsive element binding protein 3 like 3,Disease-causing germline mutation(s) in,Assessed
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
300345,Autosomal systemic lupus erythematosus,C1QA,complement C1q A chain,Major susceptibility factor in,Assessed
300345,Autosomal systemic lupus erythematosus,C4A,complement C4A (Chido/Rodgers blood group),Major susceptibility factor in,Assessed
300345,Autosomal systemic lupus erythematosus,DNASE1L3,deoxyribonuclease 1L3,Disease-causing germline mutation(s) (loss of function) in,Assessed
300345,Autosomal systemic lupus erythematosus,C1R,complement C1r,Disease-causing germline mutation(s) (loss of function) in,Assessed
300345,Autosomal systemic lupus erythematosus,DNASE1,deoxyribonuclease 1,Disease-causing germline mutation(s) in,Assessed
300359,PLCG2-associated antibody deficiency and immune dysregulation,PLCG2,phospholipase C gamma 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
300333,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,CD151,CD151 molecule (Raph blood group),Disease-causing germline mutation(s) in,Assessed
464724,Fever-associated acute infantile liver failure syndrome,NBAS,NBAS subunit of NRZ tethering complex,Disease-causing germline mutation(s) (loss of function) in,Assessed
464724,Fever-associated acute infantile liver failure syndrome,RINT1,RAD50 interactor 1,Disease-causing germline mutation(s) in,Assessed
464738,Basel-Vanagaite-Smirin-Yosef syndrome,MED25,mediator complex subunit 25,Disease-causing germline mutation(s) in,Assessed
464760,Familial cavitary optic disc anomaly,MMP19,matrix metallopeptidase 19,Disease-causing germline mutation(s) in,Assessed
464756,Familial gastric type 1 neuroendocrine tumor,ATP4A,ATPase H+/K+ transporting subunit alpha,Disease-causing germline mutation(s) in,Assessed
465508,Symptomatic form of HFE-related hemochromatosis,HFE,homeostatic iron regulator,Disease-causing germline mutation(s) in,Assessed
465508,Symptomatic form of HFE-related hemochromatosis,BMP6,bone morphogenetic protein 6,Disease-causing germline mutation(s) in,Assessed
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,HACE1,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,PRMT7,protein arginine methyltransferase 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
464311,Intellectual disability syndrome due to a DYRK1A point mutation,DYRK1A,dual specificity tyrosine phosphorylation regulated kinase 1A,Disease-causing germline mutation(s) (loss of function) in,Assessed
464366,NEK9-related lethal skeletal dysplasia,NEK9,NIMA related kinase 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
464336,BENTA disease,CARD11,caspase recruitment domain family member 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
464443,COG6-CGD,COG6,component of oligomeric golgi complex 6,Disease-causing germline mutation(s) in,Assessed
464440,"Primary dystonia, DYT27 type",COL6A3,collagen type VI alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
464370,Neonatal alloimmune neutropenia,FCGR3B,Fc fragment of IgG receptor IIIb,Biomarker tested in,Assessed
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,MAMLD1,mastermind like domain containing 1,Role in the phenotype of,Assessed
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,MTM1,myotubularin 1,Role in the phenotype of,Assessed
456333,Hereditary neuroendocrine tumor of small intestine,IPMK,inositol polyphosphate multikinase,Disease-causing germline mutation(s) in,Assessed
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,PTRH2,peptidyl-tRNA hydrolase 2,Disease-causing germline mutation(s) in,Assessed
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,DNMT1,DNA methyltransferase 1,Disease-causing germline mutation(s) in,Assessed
454840,NTHL1-related polyposis,NTHL1,nth like DNA glycosylase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
454745,Kuru,PRNP,prion protein (Kanno blood group),Major susceptibility factor in,Assessed
453533,Polyendocrine-polyneuropathy syndrome,DMXL2,Dmx like 2,Disease-causing germline mutation(s) in,Assessed
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,CWF19L1,CWF19 like cell cycle control factor 1,Disease-causing germline mutation(s) in,Assessed
451612,Familial congenital nasolacrimal duct obstruction,IGSF3,immunoglobulin superfamily member 3,Disease-causing germline mutation(s) in,Assessed
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,HNRNPK,heterogeneous nuclear ribonucleoprotein K,Disease-causing germline mutation(s) (loss of function) in,Assessed
453510,Congenital insensitivity to pain with severe intellectual disability,CLTCL1,clathrin heavy chain like 1,Disease-causing germline mutation(s) in,Assessed
448264,Isolated focal non-epidermolytic palmoplantar keratoderma,TRPV3,transient receptor potential cation channel subfamily V member 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
448264,Isolated focal non-epidermolytic palmoplantar keratoderma,KRT16,keratin 16,Disease-causing germline mutation(s) in,Assessed
448251,Progressive autosomal recessive ataxia-deafness syndrome,SLC9A1,solute carrier family 9 member A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
448267,Regressive spondylometaphyseal dysplasia,LBR,lamin B receptor,Disease-causing germline mutation(s) in,Assessed
448010,CAD-CDG,CAD,"carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase",Disease-causing germline mutation(s) in,Assessed
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,SLC1A4,solute carrier family 1 member 4,Disease-causing germline mutation(s) in,Assessed
448242,Autosomal recessive brachyolmia,PAPSS2,3'-phosphoadenosine 5'-phosphosulfate synthase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
447977,Progressive scapulohumeroperoneal distal myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,MYO18B,myosin XVIIIB,Disease-causing germline mutation(s) (loss of function) in,Assessed
447980,19p13.3 microduplication syndrome,NFIX,nuclear factor I X,Role in the phenotype of,Assessed
447954,Combined oxidative phosphorylation defect type 25,MARS2,"methionyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,NAGLU,N-acetyl-alpha-glucosaminidase,Disease-causing germline mutation(s) in,Assessed
447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,SASH1,SAM and SH3 domain containing 1,Disease-causing germline mutation(s) in,Assessed
459033,Ataxia-oculomotor apraxia type 4,PNKP,polynucleotide kinase 3'-phosphatase,Disease-causing germline mutation(s) in,Assessed
459051,"Spondyloepiphyseal dysplasia, Stanescu type",COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,DPH1,diphthamide biosynthesis 1,Disease-causing germline mutation(s) in,Assessed
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,DPH2,diphthamide biosynthesis 2,Disease-causing germline mutation(s) in,Assessed
459056,Autosomal recessive spastic paraplegia type 75,MAG,myelin associated glycoprotein,Disease-causing germline mutation(s) (loss of function) in,Assessed
459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,RPL10,ribosomal protein L10,Disease-causing germline mutation(s) in,Assessed
458798,Spinocerebellar ataxia type 41,TRPC3,transient receptor potential cation channel subfamily C member 3,Disease-causing germline mutation(s) in,Assessed
458803,Spinocerebellar ataxia type 42,CACNA1G,calcium voltage-gated channel subunit alpha1 G,Disease-causing germline mutation(s) in,Assessed
457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,MTOR,mechanistic target of rapamycin kinase,Disease-causing germline mutation(s) (gain of function) in,Assessed
457265,Progressive myoclonic epilepsy type 9,LMNB2,lamin B2,Disease-causing germline mutation(s) in,Assessed
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,PPP2R5D,protein phosphatase 2 regulatory subunit B'delta,Disease-causing germline mutation(s) in,Assessed
457260,X-linked intellectual disability-hypotonia-movement disorder syndrome,DDX3X,DEAD-box helicase 3 X-linked,Disease-causing germline mutation(s) (loss of function) in,Assessed
457240,X-linked intellectual disability-short stature-overweight syndrome,THOC2,THO complex subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
457246,Clear cell sarcoma of kidney,BCOR,BCL6 corepressor,Disease-causing somatic mutation(s) in,Assessed
457246,Clear cell sarcoma of kidney,YWHAE,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon,Part of a fusion gene in,Assessed
457246,Clear cell sarcoma of kidney,NUTM2B,NUT family member 2B,Part of a fusion gene in,Assessed
457246,Clear cell sarcoma of kidney,NUTM2E,NUT family member 2E,Part of a fusion gene in,Assessed
457246,Clear cell sarcoma of kidney,TERT,telomerase reverse transcriptase,Part of a fusion gene in,Assessed
457246,Clear cell sarcoma of kidney,IRX2,iroquois homeobox 2,Part of a fusion gene in,Assessed
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,RSPRY1,ring finger and SPRY domain containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
457406,Multiple mitochondrial dysfunctions syndrome type 4,ISCA2,iron-sulfur cluster assembly 2,Disease-causing germline mutation(s) in,Assessed
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,ITPA,inosine triphosphatase,Disease-causing germline mutation(s) in,Assessed
457378,Complex lethal osteochondrodysplasia,TAPT1,transmembrane anterior posterior transformation 1,Disease-causing germline mutation(s) in,Assessed
457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,HERC1,HECT and RLD domain containing E3 ubiquitin protein ligase family member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,PPP2R1A,protein phosphatase 2 scaffold subunit Aalpha,Disease-causing germline mutation(s) in,Assessed
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,AFG2A,AAA ATPase AFG2A,Disease-causing germline mutation(s) in,Assessed
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,COQ4,coenzyme Q4,Disease-causing germline mutation(s) (loss of function) in,Assessed
457088,Predisposition to invasive fungal disease due to CARD9 deficiency,CARD9,caspase recruitment domain family member 9,Disease-causing germline mutation(s) in,Assessed
457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,MRPS7,mitochondrial ribosomal protein S7,Disease-causing germline mutation(s) in,Assessed
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,SLC6A17,solute carrier family 6 member 17,Disease-causing germline mutation(s) in,Assessed
457193,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,KAT6A,lysine acetyltransferase 6A,Disease-causing germline mutation(s) in,Assessed
456369,Polyglucosan body myopathy type 2,GYG1,glycogenin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,CHCHD10,coiled-coil-helix-coiled-coil-helix domain containing 10,Disease-causing germline mutation(s) in,Assessed
317,Erythrokeratodermia variabilis,GJA1,gap junction protein alpha 1,Disease-causing germline mutation(s) in,Assessed
317,Erythrokeratodermia variabilis,GJB4,gap junction protein beta 4,Disease-causing germline mutation(s) in,Assessed
317,Erythrokeratodermia variabilis,GJB3,gap junction protein beta 3,Disease-causing germline mutation(s) in,Assessed
317,Erythrokeratodermia variabilis,KDSR,3-ketodihydrosphingosine reductase,Disease-causing germline mutation(s) (loss of function) in,Assessed
629,Short stature due to growth hormone qualitative anomaly,GH1,growth hormone 1,Disease-causing germline mutation(s) in,Assessed
632,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,BTK,Bruton tyrosine kinase,Disease-causing germline mutation(s) in,Assessed
632,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,ELF4,E74 like ETS transcription factor 4,Disease-causing germline mutation(s) in,Assessed
248,Autosomal recessive hypohidrotic ectodermal dysplasia,EDAR,ectodysplasin A receptor,Disease-causing germline mutation(s) in,Assessed
248,Autosomal recessive hypohidrotic ectodermal dysplasia,EDARADD,EDAR associated via death domain,Disease-causing germline mutation(s) in,Assessed
248,Autosomal recessive hypohidrotic ectodermal dysplasia,WNT10A,Wnt family member 10A,Disease-causing germline mutation(s) in,Assessed
248,Autosomal recessive hypohidrotic ectodermal dysplasia,CSTB,cystatin B,Disease-causing germline mutation(s) in,Assessed
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,EDAR,ectodysplasin A receptor,Disease-causing germline mutation(s) in,Assessed
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,EDARADD,EDAR associated via death domain,Disease-causing germline mutation(s) in,Assessed
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,TRAF6,TNF receptor associated factor 6,Disease-causing germline mutation(s) in,Assessed
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,LRP6,LDL receptor related protein 6,Disease-causing germline mutation(s) in,Assessed
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,KDF1,keratinocyte differentiation factor 1,Disease-causing germline mutation(s) in,Assessed
3437,Vogt-Koyanagi-Harada disease,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
3437,Vogt-Koyanagi-Harada disease,FAS,Fas cell surface death receptor,Major susceptibility factor in,Assessed
3437,Vogt-Koyanagi-Harada disease,PTPN22,protein tyrosine phosphatase non-receptor type 22,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,SFTPA1,surfactant protein A1,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,DSP,desmoplakin,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,TERT,telomerase reverse transcriptase,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,TERC,telomerase RNA component,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,MUC5B,"mucin 5B, oligomeric mucus/gel-forming",Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,SFTPA2,surfactant protein A2,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,RTEL1,regulator of telomere elongation helicase 1,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,FAM13A,family with sequence similarity 13 member A,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,STN1,STN1 subunit of CST complex,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,ATP11A,ATPase phospholipid transporting 11A,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,DPP9,dipeptidyl peptidase 9,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,PARN,poly(A)-specific ribonuclease,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,SFTPC,surfactant protein C,Major susceptibility factor in,Assessed
2032,Idiopathic pulmonary fibrosis,ABCA3,ATP binding cassette subfamily A member 3,Candidate gene tested in,Not yet assessed
198,Occipital horn syndrome,ATP7A,ATPase copper transporting alpha,Disease-causing germline mutation(s) in,Assessed
891,Familial exudative vitreoretinopathy,CTNNB1,catenin beta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
891,Familial exudative vitreoretinopathy,FZD4,frizzled class receptor 4,Disease-causing germline mutation(s) in,Assessed
891,Familial exudative vitreoretinopathy,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) in,Assessed
891,Familial exudative vitreoretinopathy,NDP,norrin cystine knot growth factor NDP,Disease-causing germline mutation(s) in,Assessed
891,Familial exudative vitreoretinopathy,TSPAN12,tetraspanin 12,Disease-causing germline mutation(s) in,Assessed
891,Familial exudative vitreoretinopathy,ZNF408,zinc finger protein 408,Disease-causing germline mutation(s) in,Assessed
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,FRMD4A,FERM domain containing 4A,Disease-causing germline mutation(s) in,Assessed
466650,Exercise-induced malignant hyperthermia,RYR1,ryanodine receptor 1,Major susceptibility factor in,Assessed
466962,SMARCA4-deficient sarcoma of thorax,SMARCA4,SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4,Disease-causing somatic mutation(s) in,Assessed
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,WAC,WW domain containing adaptor with coiled-coil,Disease-causing germline mutation(s) (loss of function) in,Assessed
466926,Seizures-scoliosis-macrocephaly syndrome,EXT2,exostosin glycosyltransferase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,VPS11,VPS11 core subunit of CORVET and HOPS complexes,Disease-causing germline mutation(s) (loss of function) in,Assessed
466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,TTN,titin,Disease-causing germline mutation(s) (loss of function) in,Assessed
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,SLFN14,schlafen family member 14,Disease-causing germline mutation(s) in,Assessed
466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,SCYL1,SCY1 like pseudokinase 1,Disease-causing germline mutation(s) in,Assessed
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,NONO,non-POU domain containing octamer binding,Disease-causing germline mutation(s) (loss of function) in,Assessed
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,SLC25A26,solute carrier family 25 member 26,Disease-causing germline mutation(s) (loss of function) in,Assessed
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,SPG11,"SPG11 vesicle trafficking associated, spatacsin",Disease-causing germline mutation(s) in,Assessed
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,MORC2,MORC family CW-type zinc finger 2,Disease-causing germline mutation(s) in,Assessed
466729,Familial patent arterial duct,TFAP2B,transcription factor AP-2 beta,Disease-causing germline mutation(s) in,Assessed
466729,Familial patent arterial duct,PRDM6,PR/SET domain 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
466722,Autosomal recessive spastic paraplegia type 77,FARS2,"phenylalanyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
466718,Martinique crinkled retinal pigment epitheliopathy,MAPKAPK3,MAPK activated protein kinase 3,Disease-causing germline mutation(s) in,Assessed
466703,TMEM199-CDG,VMA12,vacuolar ATPase assembly factor VMA12,Disease-causing germline mutation(s) (loss of function) in,Assessed
465824,Fetal encasement syndrome,CHUK,component of inhibitor of nuclear factor kappa B kinase complex,Disease-causing germline mutation(s) in,Assessed
466026,Class I glucose-6-phosphate dehydrogenase deficiency,G6PD,glucose-6-phosphate dehydrogenase,Disease-causing germline mutation(s) in,Assessed
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,DEAF1,DEAF1 transcription factor,Disease-causing germline mutation(s) in,Assessed
468631,Microcephalic cortical malformations-short stature due to RTTN deficiency,RTTN,rotatin,Disease-causing germline mutation(s) in,Assessed
467166,Tubulinopathy-associated dysgyria,TUBA1A,tubulin alpha 1a,Disease-causing germline mutation(s) in,Assessed
467166,Tubulinopathy-associated dysgyria,TUBB2B,tubulin beta 2B class IIb,Disease-causing germline mutation(s) in,Assessed
467166,Tubulinopathy-associated dysgyria,TUBB3,tubulin beta 3 class III,Disease-causing germline mutation(s) in,Assessed
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,CCDC174,coiled-coil domain containing 174,Disease-causing germline mutation(s) in,Assessed
468635,Cryptogenic multifocal ulcerous stenosing enteritis,PLA2G4A,phospholipase A2 group IVA,Disease-causing germline mutation(s) (loss of function) in,Assessed
468641,Chronic enteropathy associated with SLCO2A1 gene,SLCO2A1,solute carrier organic anion transporter family member 2A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
468661,Autosomal recessive spastic paraplegia type 74,IBA57,iron-sulfur cluster assembly factor IBA57,Disease-causing germline mutation(s) in,Assessed
468666,Isolated generalized anhidrosis with normal sweat glands,ITPR2,"inositol 1,4,5-trisphosphate receptor type 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
468678,White-Sutton syndrome,POGZ,pogo transposable element derived with ZNF domain,Disease-causing germline mutation(s) (loss of function) in,Assessed
468684,CCDC115-CDG,VMA22,vacuolar ATPase assembly factor VMA22,Disease-causing germline mutation(s) (loss of function) in,Assessed
468672,Colobomatous macrophthalmia-microcornea syndrome,CRIM1,cysteine rich transmembrane BMP regulator 1,Disease-causing germline mutation(s) in,Assessed
468726,Severe primary trimethylaminuria,FMO3,flavin containing dimethylaniline monoxygenase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
468699,SLC39A8-CDG,SLC39A8,solute carrier family 39 member 8,Disease-causing germline mutation(s) in,Assessed
468717,Rhizomelic chondrodysplasia punctata type 5,PEX5,peroxisomal biogenesis factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
401785,Autosomal recessive spastic paraplegia type 62,ERLIN1,ER lipid raft associated 1,Disease-causing germline mutation(s) in,Assessed
401780,Autosomal recessive spastic paraplegia type 61,ARL6IP1,ARL6 interacting reticulophagy regulator 1,Disease-causing germline mutation(s) in,Assessed
401800,Autosomal recessive spastic paraplegia type 60,WDR48,WD repeat domain 48,Disease-causing germline mutation(s) in,Assessed
401795,Autosomal recessive spastic paraplegia type 59,USP8,ubiquitin specific peptidase 8,Disease-causing germline mutation(s) in,Assessed
401768,Proximal myopathy with extrapyramidal signs,MICU1,mitochondrial calcium uptake 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
401764,Pancytopenia-developmental delay syndrome,ERCC6L2,ERCC excision repair 6 like 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
401777,Optic atrophy-intellectual disability syndrome,NR2F1,nuclear receptor subfamily 2 group F member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
401830,Autosomal recessive spastic paraplegia type 69,RAB3GAP2,RAB3 GTPase activating non-catalytic protein subunit 2,Disease-causing germline mutation(s) in,Assessed
401835,Autosomal recessive spastic paraplegia type 70,MARS1,methionyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
401840,Autosomal recessive spastic paraplegia type 71,ZFR,zinc finger RNA binding protein,Disease-causing germline mutation(s) in,Assessed
401805,Autosomal recessive spastic paraplegia type 63,AMPD2,adenosine monophosphate deaminase 2,Disease-causing germline mutation(s) in,Assessed
401810,Autosomal recessive spastic paraplegia type 64,ENTPD1,ectonucleoside triphosphate diphosphohydrolase 1,Disease-causing germline mutation(s) in,Assessed
401815,Autosomal recessive spastic paraplegia type 66,ARSI,arylsulfatase family member I,Disease-causing germline mutation(s) in,Assessed
401820,Autosomal recessive spastic paraplegia type 67,PGAP1,post-GPI attachment to proteins inositol deacylase 1,Disease-causing germline mutation(s) in,Assessed
401866,Childhood-onset spasticity with hyperglycinemia,GLRX5,glutaredoxin 5,Disease-causing germline mutation(s) in,Assessed
401869,Multiple mitochondrial dysfunctions syndrome type 1,NFU1,NFU1 iron-sulfur cluster scaffold,Disease-causing germline mutation(s) in,Assessed
401874,Multiple mitochondrial dysfunctions syndrome type 2,BOLA3,bolA family member 3,Disease-causing germline mutation(s) in,Assessed
401849,Autosomal spastic paraplegia type 72,REEP2,receptor accessory protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
401859,Lipoic acid synthetase deficiency,LIAS,lipoic acid synthetase,Disease-causing germline mutation(s) in,Assessed
401862,Lipoyl transferase 1 deficiency,LIPT1,lipoyltransferase 1,Disease-causing germline mutation(s) in,Assessed
401920,Fibrolamellar hepatocellular carcinoma,DNAJB1,DnaJ heat shock protein family (Hsp40) member B1,Part of a fusion gene in,Assessed
401920,Fibrolamellar hepatocellular carcinoma,PRKACA,protein kinase cAMP-activated catalytic subunit alpha,Part of a fusion gene in,Assessed
401911,AXIN2-related polyposis,AXIN2,axin 2,Disease-causing germline mutation(s) in,Assessed
401901,Huntington disease-like syndrome due to C9ORF72 expansions,C9ORF72,C9orf72-SMCR8 complex subunit,Disease-causing germline mutation(s) in,Assessed
401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,KPNA7,karyopherin subunit alpha 7,Disease-causing germline mutation(s) in,Assessed
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,CA5A,carbonic anhydrase 5A,Disease-causing germline mutation(s) in,Assessed
401945,Moyamoya disease with early-onset achalasia,GUCY1A1,guanylate cyclase 1 soluble subunit alpha 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
401986,1p31p32 microdeletion syndrome,NFIA,nuclear factor I A,Role in the phenotype of,Assessed
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",PAM16,presequence translocase associated motor 16,Disease-causing germline mutation(s) in,Assessed
401973,MEND syndrome,EBP,EBP cholestenol delta-isomerase,Disease-causing germline mutation(s) in,Assessed
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,DCAF8,DDB1 and CUL4 associated factor 8,Disease-causing germline mutation(s) in,Assessed
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,KRT6C,keratin 6C,Disease-causing germline mutation(s) in,Assessed
401996,Karyomegalic interstitial nephritis,FAN1,FANCD2 and FANCI associated nuclease 1,Disease-causing germline mutation(s) in,Assessed
402017,Acute myeloid leukemia with t(9;11)(p22;q23),KMT2A,lysine methyltransferase 2A,Part of a fusion gene in,Assessed
402017,Acute myeloid leukemia with t(9;11)(p22;q23),MLLT3,MLLT3 super elongation complex subunit,Part of a fusion gene in,Assessed
402020,Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),MECOM,MDS1 and EVI1 complex locus,Part of a fusion gene in,Assessed
402020,Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),RPN1,ribophorin I,Part of a fusion gene in,Assessed
402014,Acute myeloid leukemia with t(6;9)(p23;q34),NUP214,nucleoporin 214,Part of a fusion gene in,Assessed
402014,Acute myeloid leukemia with t(6;9)(p23;q34),DEK,DEK proto-oncogene,Part of a fusion gene in,Assessed
402023,Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),RBM15,RNA binding motif protein 15,Part of a fusion gene in,Assessed
402023,Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),MRTFA,myocardin related transcription factor A,Part of a fusion gene in,Assessed
402026,Acute myeloid leukemia with NPM1 somatic mutations,NPM1,nucleophosmin 1,Disease-causing somatic mutation(s) in,Assessed
402082,Progressive myoclonic epilepsy type 5,PRICKLE2,prickle planar cell polarity protein 2,Candidate gene tested in,Not yet assessed
402082,Progressive myoclonic epilepsy type 5,POLG,"DNA polymerase gamma, catalytic subunit",Candidate gene tested in,Assessed
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,MED17,mediator complex subunit 17,Disease-causing germline mutation(s) in,Assessed
402041,Autosomal recessive distal renal tubular acidosis,FOXI1,forkhead box I1,Disease-causing germline mutation(s) in,Assessed
402041,Autosomal recessive distal renal tubular acidosis,ATP6V0A4,ATPase H+ transporting V0 subunit a4,Disease-causing germline mutation(s) in,Assessed
402041,Autosomal recessive distal renal tubular acidosis,ATP6V1B1,ATPase H+ transporting V1 subunit B1,Disease-causing germline mutation(s) in,Assessed
402041,Autosomal recessive distal renal tubular acidosis,WDR72,WD repeat domain 72,Disease-causing germline mutation(s) in,Assessed
402075,Familial bicuspid aortic valve,NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
402075,Familial bicuspid aortic valve,GATA5,GATA binding protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
402075,Familial bicuspid aortic valve,ROBO4,roundabout guidance receptor 4,Disease-causing germline mutation(s) in,Assessed
402075,Familial bicuspid aortic valve,NOTCH1,notch receptor 1,Disease-causing germline mutation(s) in,Assessed
402075,Familial bicuspid aortic valve,SMAD6,SMAD family member 6,Disease-causing germline mutation(s) in,Assessed
806,Scott syndrome,ANO6,anoctamin 6,Disease-causing germline mutation(s) in,Assessed
404473,Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome,CTNNB1,catenin beta 1,Disease-causing germline mutation(s) in,Assessed
404463,Multisystemic smooth muscle dysfunction syndrome,ACTA2,"actin alpha 2, smooth muscle",Disease-causing germline mutation(s) in,Assessed
404466,Female infertility due to zona pellucida defect,ZP2,zona pellucida glycoprotein 2,Disease-causing germline mutation(s) in,Assessed
404466,Female infertility due to zona pellucida defect,ZP3,zona pellucida glycoprotein 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
404466,Female infertility due to zona pellucida defect,ZP1,zona pellucida glycoprotein 1,Disease-causing germline mutation(s) in,Assessed
404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,FBLN1,fibulin 1,Disease-causing germline mutation(s) in,Assessed
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,NGLY1,N-glycanase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
404443,Tatton-Brown-Rahman syndrome,DNMT3A,DNA methyltransferase 3 alpha,Disease-causing germline mutation(s) in,Assessed
404448,Helsmoortel-Van der Aa syndrome,ADNP,activity dependent neuroprotector homeobox,Disease-causing germline mutation(s) in,Assessed
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,QARS1,glutaminyl-tRNA synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
404560,Familial atypical multiple mole melanoma syndrome,CDKN2A,cyclin dependent kinase inhibitor 2A,Disease-causing germline mutation(s) in,Assessed
404553,Deficiency of adenosine deaminase 2,ADA2,adenosine deaminase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
404546,DITRA,IL36RN,interleukin 36 receptor antagonist,Disease-causing germline mutation(s) (loss of function) in,Assessed
404521,Spinal muscular atrophy with respiratory distress type 2,LAS1L,LAS1 like ribosome biogenesis factor,Disease-causing germline mutation(s) in,Assessed
404511,Clear cell papillary renal cell carcinoma,HNF1A,HNF1 homeobox A,Biomarker tested in,Not yet assessed
404511,Clear cell papillary renal cell carcinoma,TMEM127,transmembrane protein 127,Major susceptibility factor in,Assessed
404511,Clear cell papillary renal cell carcinoma,MITF,melanocyte inducing transcription factor,Major susceptibility factor in,Assessed
404511,Clear cell papillary renal cell carcinoma,PBRM1,polybromo 1,Major susceptibility factor in,Assessed
404507,Chondromyxoid fibroma,GRM1,glutamate metabotropic receptor 1,Part of a fusion gene in,Assessed
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,RUBCN,rubicon autophagy regulator,Disease-causing germline mutation(s) in,Assessed
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,TDP2,tyrosyl-DNA phosphodiesterase 2,Disease-causing germline mutation(s) in,Assessed
404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,DICER1,"dicer 1, ribonuclease III",Disease-causing somatic mutation(s) in,Assessed
411536,Mild phosphoribosylpyrophosphate synthetase superactivity,PRPS1,phosphoribosyl pyrophosphate synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
411543,Severe phosphoribosylpyrophosphate synthetase superactivity,PRPS1,phosphoribosyl pyrophosphate synthetase 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
411590,Wolfram-like syndrome,WFS1,wolframin ER transmembrane glycoprotein,Disease-causing germline mutation(s) in,Assessed
411602,Hereditary late-onset Parkinson disease,SNCA,synuclein alpha,Disease-causing germline mutation(s) (gain of function) in,Assessed
411602,Hereditary late-onset Parkinson disease,GBA1,glucosylceramidase beta 1,Major susceptibility factor in,Assessed
411602,Hereditary late-onset Parkinson disease,LRRK2,leucine rich repeat kinase 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
411602,Hereditary late-onset Parkinson disease,EIF4G1,eukaryotic translation initiation factor 4 gamma 1,Candidate gene tested in,Not yet assessed
411602,Hereditary late-onset Parkinson disease,VPS35,VPS35 retromer complex component,Disease-causing germline mutation(s) in,Assessed
411602,Hereditary late-onset Parkinson disease,DNAJC13,DnaJ heat shock protein family (Hsp40) member C13,Disease-causing germline mutation(s) (gain of function) in,Assessed
411602,Hereditary late-onset Parkinson disease,GIGYF2,GRB10 interacting GYF protein 2,Candidate gene tested in,Not yet assessed
411629,Infantile nephropathic cystinosis,CTNS,"cystinosin, lysosomal cystine transporter",Disease-causing germline mutation(s) in,Assessed
411493,Pontocerebellar hypoplasia type 10,CLP1,cleavage factor polyribonucleotide kinase subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
411511,Angelman syndrome due to a point mutation,UBE3A,ubiquitin protein ligase E3A,Disease-causing germline mutation(s) (loss of function) in,Assessed
411515,Angelman syndrome due to imprinting defect in 15q11-q13,SNRPN,small nuclear ribonucleoprotein polypeptide N,Role in the phenotype of,Assessed
411515,Angelman syndrome due to imprinting defect in 15q11-q13,UBE3A,ubiquitin protein ligase E3A,Role in the phenotype of,Assessed
411515,Angelman syndrome due to imprinting defect in 15q11-q13,ATP10A,ATPase phospholipid transporting 10A (putative),Role in the phenotype of,Assessed
411712,Maternal riboflavin deficiency,SLC52A1,solute carrier family 52 member 1,Disease-causing germline mutation(s) in,Assessed
411788,Familial isolated trichomegaly,FGF5,fibroblast growth factor 5,Disease-causing germline mutation(s) in,Assessed
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,DOCK7,dedicator of cytokinesis 7,Disease-causing germline mutation(s) (loss of function) in,Assessed
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,ASPH,aspartate beta-hydroxylase,Disease-causing germline mutation(s) in,Assessed
411641,Ocular cystinosis,CTNS,"cystinosin, lysosomal cystine transporter",Disease-causing germline mutation(s) in,Assessed
411634,Juvenile nephropathic cystinosis,CTNS,"cystinosin, lysosomal cystine transporter",Disease-causing germline mutation(s) in,Assessed
371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,MMP2,matrix metallopeptidase 2,Disease-causing germline mutation(s) in,Assessed
371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,MMP14,matrix metallopeptidase 14,Disease-causing germline mutation(s) in,Assessed
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,NBAS,NBAS subunit of NRZ tethering complex,Disease-causing germline mutation(s) in,Assessed
391474,Frontorhiny,ALX3,ALX homeobox 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
391490,Adult-onset myasthenia gravis,TNFRSF11A,TNF receptor superfamily member 11a,Major susceptibility factor in,Assessed
391490,Adult-onset myasthenia gravis,CTLA4,cytotoxic T-lymphocyte associated protein 4,Major susceptibility factor in,Assessed
391490,Adult-onset myasthenia gravis,HLA-DQA1,"major histocompatibility complex, class II, DQ alpha 1",Major susceptibility factor in,Assessed
391487,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,STAT1,signal transducer and activator of transcription 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
391646,Feingold syndrome type 2,MIR17HG,miR-17-92a-1 cluster host gene,Disease-causing germline mutation(s) in,Assessed
391641,Feingold syndrome type 1,MYCN,"MYCN proto-oncogene, bHLH transcription factor",Disease-causing germline mutation(s) in,Assessed
391665,Homozygous familial hypercholesterolemia,ABCG5,ATP binding cassette subfamily G member 5,Candidate gene tested in,Not yet assessed
391665,Homozygous familial hypercholesterolemia,ABCG8,ATP binding cassette subfamily G member 8,Candidate gene tested in,Not yet assessed
391665,Homozygous familial hypercholesterolemia,APOB,apolipoprotein B,Disease-causing germline mutation(s) in,Assessed
391665,Homozygous familial hypercholesterolemia,LDLRAP1,low density lipoprotein receptor adaptor protein 1,Disease-causing germline mutation(s) in,Assessed
391665,Homozygous familial hypercholesterolemia,PCSK9,proprotein convertase subtilisin/kexin type 9,Disease-causing germline mutation(s) in,Assessed
391665,Homozygous familial hypercholesterolemia,LDLR,low density lipoprotein receptor,Disease-causing germline mutation(s) in,Assessed
391343,Fatal post-viral neurodegenerative disorder,PRF1,perforin 1,Disease-causing germline mutation(s) in,Assessed
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,SFXN4,sideroflexin 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
391351,SURF1-related Charcot-Marie-Tooth disease type 4,SURF1,SURF1 cytochrome c oxidase assembly factor,Disease-causing germline mutation(s) in,Assessed
391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,SH2B3,SH2B adaptor protein 3,Disease-causing germline mutation(s) in,Assessed
391372,FOXP1 Syndrome,FOXP1,forkhead box P1,Disease-causing germline mutation(s) in,Assessed
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,ASNS,asparagine synthetase (glutamine-hydrolyzing),Disease-causing germline mutation(s) (loss of function) in,Assessed
391389,Familial episodic pain syndrome with predominantly upper body involvement,TRPA1,transient receptor potential cation channel subfamily A member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
391392,Familial episodic pain syndrome with predominantly lower limb involvement,SCN11A,sodium voltage-gated channel alpha subunit 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
391397,Hereditary sensory and autonomic neuropathy type 7,SCN11A,sodium voltage-gated channel alpha subunit 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,PPP1R15B,protein phosphatase 1 regulatory subunit 15B,Disease-causing germline mutation(s) (loss of function) in,Assessed
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,TRMT10A,tRNA methyltransferase 10A,Disease-causing germline mutation(s) in,Assessed
391411,Atypical juvenile parkinsonism,PODXL,podocalyxin like,Disease-causing germline mutation(s) in,Assessed
391411,Atypical juvenile parkinsonism,DNAJC6,DnaJ heat shock protein family (Hsp40) member C6,Disease-causing germline mutation(s) in,Assessed
391411,Atypical juvenile parkinsonism,SYNJ1,synaptojanin 1,Disease-causing germline mutation(s) in,Assessed
391428,"HSD10 disease, infantile type",HSD17B10,hydroxysteroid 17-beta dehydrogenase 10,Disease-causing germline mutation(s) in,Assessed
391457,"HSD10 disease, neonatal type",HSD17B10,hydroxysteroid 17-beta dehydrogenase 10,Disease-causing germline mutation(s) in,Assessed
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,TTI2,TELO2 interacting protein 2,Disease-causing germline mutation(s) in,Assessed
391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,TNK2,tyrosine kinase non receptor 2,Disease-causing germline mutation(s) in,Assessed
391311,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,STAT1,signal transducer and activator of transcription 1,Disease-causing germline mutation(s) in,Assessed
391320,East Texas bleeding disorder,F5,coagulation factor V,Disease-causing germline mutation(s) (gain of function) in,Assessed
391330,X-linked osteoporosis with fractures,PLS3,plastin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
397968,Charcot-Marie-Tooth disease type 2R,TRIM2,tripartite motif containing 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
397964,Combined immunodeficiency due to MALT1 deficiency,MALT1,MALT1 paracaspase,Disease-causing germline mutation(s) in,Assessed
397959,TCR-alpha-beta-positive T-cell deficiency,TRAC,T-cell receptor alpha constant,Disease-causing germline mutation(s) in,Assessed
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,TAF2,TATA-box binding protein associated factor 2,Disease-causing germline mutation(s) in,Assessed
397946,Autosomal spastic paraplegia type 58,KIF1C,kinesin family member 1C,Disease-causing germline mutation(s) (loss of function) in,Assessed
397941,MAN1B1-CDG,MAN1B1,mannosidase alpha class 1B member 1,Disease-causing germline mutation(s) in,Assessed
397937,Polyglucosan body myopathy type 1,RBCK1,RANBP2-type and C3HC4-type zinc finger containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,IQSEC2,IQ motif and Sec7 domain ArfGEF 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,TBXT,T-box transcription factor T,Disease-causing germline mutation(s) (loss of function) in,Assessed
397922,Ferro-cerebro-cutaneous syndrome,PIGA,phosphatidylinositol glycan anchor biosynthesis class A,Disease-causing germline mutation(s) in,Assessed
397787,Combined immunodeficiency due to IKBKB deficiency,IKBKB,inhibitor of nuclear factor kappa B kinase subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
397755,Periodic paralysis with transient compartment-like syndrome,CACNA1S,calcium voltage-gated channel subunit alpha1 S,Disease-causing germline mutation(s) in,Assessed
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,ITM2B,integral membrane protein 2B,Disease-causing germline mutation(s) in,Assessed
397744,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,MYH14,myosin heavy chain 14,Disease-causing germline mutation(s) in,Assessed
397750,Periodic paralysis with later-onset distal motor neuropathy,MT-ATP6,mitochondrially encoded ATP synthase membrane subunit 6,Disease-causing germline mutation(s) in,Assessed
397750,Periodic paralysis with later-onset distal motor neuropathy,MT-ATP8,mitochondrially encoded ATP synthase membrane subunit 8,Disease-causing germline mutation(s) in,Assessed
397725,COASY protein-associated neurodegeneration,COASY,Coenzyme A synthase,Disease-causing germline mutation(s) in,Assessed
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,MARS1,methionyl-tRNA synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,SNX14,sorting nexin 14,Disease-causing germline mutation(s) (loss of function) in,Assessed
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,CSPP1,centrosome and spindle pole associated protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,KIAA0586,KIAA0586,Disease-causing germline mutation(s) (loss of function) in,Assessed
397692,Hereditary isolated aplastic anemia,THPO,thrombopoietin,Disease-causing germline mutation(s) (loss of function) in,Assessed
397692,Hereditary isolated aplastic anemia,MPL,"MPL proto-oncogene, thrombopoietin receptor",Disease-causing germline mutation(s) (loss of function) in,Assessed
397692,Hereditary isolated aplastic anemia,ACD,ACD shelterin complex subunit and telomerase recruitment factor,Disease-causing germline mutation(s) in,Assessed
397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,GSC,goosecoid homeobox,Disease-causing germline mutation(s) (loss of function) in,Assessed
397685,Familial hyperprolactinemia,PRLR,prolactin receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
397615,Obesity due to CEP19 deficiency,CEP19,centrosomal protein 19,Disease-causing germline mutation(s) (loss of function) in,Assessed
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,SLC38A8,solute carrier family 38 member 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,LYRM4,LYR motif containing 4,Disease-causing germline mutation(s) in,Assessed
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,NFS1,NFS1 cysteine desulfurase,Disease-causing germline mutation(s) in,Assessed
397612,Macrocephaly-developmental delay syndrome,KPTN,"kaptin, actin binding protein",Disease-causing germline mutation(s) (loss of function) in,Assessed
397606,PrP systemic amyloidosis,PRNP,prion protein (Kanno blood group),Disease-causing germline mutation(s) in,Assessed
397590,Silver-Russell syndrome due to a point mutation,IGF2,insulin like growth factor 2,Disease-causing germline mutation(s) in,Assessed
397590,Silver-Russell syndrome due to a point mutation,CDKN1C,cyclin dependent kinase inhibitor 1C,Disease-causing germline mutation(s) (gain of function) in,Assessed
397590,Silver-Russell syndrome due to a point mutation,HMGA2,high mobility group AT-hook 2,Disease-causing germline mutation(s) in,Assessed
397590,Silver-Russell syndrome due to a point mutation,PLAG1,PLAG1 zinc finger,Disease-causing germline mutation(s) in,Assessed
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",SLC25A32,solute carrier family 25 member 32,Disease-causing germline mutation(s) in,Assessed
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",FLAD1,flavin adenine dinucleotide synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",ETFA,electron transfer flavoprotein subunit alpha,Disease-causing germline mutation(s) in,Assessed
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",ETFB,electron transfer flavoprotein subunit beta,Disease-causing germline mutation(s) in,Assessed
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",ETFDH,electron transfer flavoprotein dehydrogenase,Disease-causing germline mutation(s) in,Assessed
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",ETFA,electron transfer flavoprotein subunit alpha,Disease-causing germline mutation(s) in,Assessed
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",ETFB,electron transfer flavoprotein subunit beta,Disease-causing germline mutation(s) in,Assessed
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",ETFDH,electron transfer flavoprotein dehydrogenase,Disease-causing germline mutation(s) in,Assessed
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",FLAD1,flavin adenine dinucleotide synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,SPAG17,sperm associated antigen 17,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TEX14,"testis expressed 14, intercellular bridge forming factor",Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TDRD9,tudor domain containing 9,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,NANOS1,nanos C2HC-type zinc finger 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,FANCM,FA complementation group M,Disease-causing germline mutation(s) (loss of function) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TEX15,"testis expressed 15, meiosis and synapsis associated",Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,CT55,cancer/testis antigen 55,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,RPL10L,ribosomal protein L10 like,Disease-causing germline mutation(s) (loss of function) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,GCNA,germ cell nuclear acidic peptidase,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,CATIP,ciliogenesis associated TTC17 interacting protein,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,RNF212,ring finger protein 212,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TERB1,telomere repeat binding bouquet formation protein 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TERB2,telomere repeat binding bouquet formation protein 2,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,MOV10L1,Mov10 like RNA helicase 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,FBXO43,F-box protein 43,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,SHOC1,shortage in chiasmata 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,PNLDC1,PARN like ribonuclease domain containing exonuclease 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,DNAH10,dynein axonemal heavy chain 10,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,STAG3,STAG3 cohesin complex component,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,CFTR,CF transmembrane conductance regulator,Major susceptibility factor in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,NR5A1,nuclear receptor subfamily 5 group A member 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TAF4B,TATA-box binding protein associated factor 4b,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,ZMYND15,zinc finger MYND-type containing 15,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,TEX11,testis expressed 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,SYCP3,synaptonemal complex protein 3,Candidate gene tested in,Not yet assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,SOHLH1,spermatogenesis and oogenesis specific basic helix-loop-helix 1,Major susceptibility factor in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,XRCC2,X-ray repair cross complementing 2,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,SYCE1,synaptonemal complex central element protein 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,MEIOB,meiosis specific with OB-fold,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,C14ORF39,chromosome 14 open reading frame 39,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,KLHL10,kelch like family member 10,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,CCDC34,coiled-coil domain containing 34,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,PDHA2,pyruvate dehydrogenase E1 subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,DNHD1,dynein heavy chain domain 1,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,ZSWIM7,zinc finger SWIM-type containing 7,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,SPINK2,serine peptidase inhibitor Kazal type 2,Disease-causing germline mutation(s) in,Assessed
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,MSH5,mutS homolog 5,Disease-causing germline mutation(s) in,Assessed
399058,Alpha-B crystallin-related late-onset myopathy,CRYAB,crystallin alpha B,Disease-causing germline mutation(s) in,Assessed
398987,Malignant teratoma of ovary,BMP15,bone morphogenetic protein 15,Major susceptibility factor in,Assessed
399086,HNRNPA1-related adult-onset distal myopathy,HNRNPA1,heterogeneous nuclear ribonucleoprotein A1,Disease-causing germline mutation(s) in,Assessed
399081,KLHL9-related early-onset distal myopathy,KLHL9,kelch like family member 9,Disease-causing germline mutation(s) in,Assessed
399103,Autosomal recessive distal nebulin myopathy,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
399096,Distal anoctaminopathy,ANO5,anoctamin 5,Disease-causing germline mutation(s) in,Assessed
398189,Focal facial dermal dysplasia type IV,CYP26C1,cytochrome P450 family 26 subfamily C member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
398069,Schaaf-Yang syndrome,MAGEL2,MAGE family member L2,Disease-causing germline mutation(s) (loss of function) in,Assessed
398079,SIM1-related Prader-Willi-like syndrome,SIM1,SIM bHLH transcription factor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
398088,Hereditary cryohydrocytosis with normal stomatin,SLC4A1,solute carrier family 4 member 1 (Diego blood group),Disease-causing germline mutation(s) in,Assessed
435628,Keppen-Lubinsky syndrome,KCNJ6,potassium inwardly rectifying channel subfamily J member 6,Disease-causing germline mutation(s) in,Assessed
435660,LIPE-related familial partial lipodystrophy,LIPE,"lipase E, hormone sensitive type",Disease-causing germline mutation(s) in,Assessed
435651,CIDEC-related familial partial lipodystrophy,CIDEC,cell death inducing DFFA like effector c,Disease-causing germline mutation(s) (loss of function) in,Assessed
435638,3p25.3 microdeletion syndrome,SETD5,SET domain containing 5,Role in the phenotype of,Assessed
435638,3p25.3 microdeletion syndrome,BRPF1,bromodomain and PHD finger containing 1,Role in the phenotype of,Assessed
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,ACAN,aggrecan,Disease-causing germline mutation(s) (loss of function) in,Assessed
435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,BRAT1,BRCA1 associated ATM activator 1,Disease-causing germline mutation(s) in,Assessed
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,SIX6,SIX homeobox 6,Disease-causing germline mutation(s) in,Assessed
435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,TFG,trafficking from ER to golgi regulator,Disease-causing germline mutation(s) (gain of function) in,Assessed
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,SPRTN,SprT-like N-terminal domain,Disease-causing germline mutation(s) (loss of function) in,Assessed
435988,Chronic atrial and intestinal dysrhythmia syndrome,SGO1,shugoshin 1,Disease-causing germline mutation(s) in,Assessed
435934,COG2-CDG,COG2,component of oligomeric golgi complex 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,RPL10,ribosomal protein L10,Disease-causing germline mutation(s) (loss of function) in,Assessed
436141,HIDEA syndrome,P4HTM,"prolyl 4-hydroxylase, transmembrane",Disease-causing germline mutation(s) in,Assessed
436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,CDKN1C,cyclin dependent kinase inhibitor 1C,Disease-causing germline mutation(s) (gain of function) in,Assessed
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,COX6A1,cytochrome c oxidase subunit 6A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,CTLA4,cytotoxic T-lymphocyte associated protein 4,Disease-causing germline mutation(s) in,Assessed
436151,Intellectual disability-expressive aphasia-facial dysmorphism syndrome,SETBP1,SET binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
436169,Thrombomodulin-related bleeding disorder,THBD,thrombomodulin,Disease-causing germline mutation(s) (gain of function) in,Assessed
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,NLRC4,NLR family CARD domain containing 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,NSMCE2,NSE2 SUMO ligase component of SMC5/6 complex,Disease-causing germline mutation(s) (loss of function) in,Assessed
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,XRCC4,X-ray repair cross complementing 4,Disease-causing germline mutation(s) in,Assessed
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,IARS2,"isoleucyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,RDH11,retinol dehydrogenase 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
436242,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,TNNI3K,TNNI3 interacting kinase,Disease-causing germline mutation(s) in,Assessed
436271,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,COA8,cytochrome c oxidase assembly factor 8,Disease-causing germline mutation(s) in,Assessed
436252,Combined immunodeficiency-multiple intestinal atresia,TTC7A,tetratricopeptide repeat domain 7A,Disease-causing germline mutation(s) (loss of function) in,Assessed
436252,Combined immunodeficiency-multiple intestinal atresia,PI4KA,phosphatidylinositol 4-kinase alpha,Disease-causing germline mutation(s) in,Assessed
436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,GGCX,gamma-glutamyl carboxylase,Disease-causing germline mutation(s) in,Assessed
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,FCGR3A,Fc fragment of IgG receptor IIIa,Disease-causing germline mutation(s) in,Assessed
438178,Fatty acyl-CoA reductase 1 deficiency,FAR1,fatty acyl-CoA reductase 1,Disease-causing germline mutation(s) in,Assessed
438159,STAT3-related early-onset multisystem autoimmune disease,STAT3,signal transducer and activator of transcription 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,PCNA,proliferating cell nuclear antigen,Disease-causing germline mutation(s) in,Assessed
438117,Steel syndrome,COL27A1,collagen type XXVII alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,RARS1,arginyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,SLC16A1,solute carrier family 16 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
438274,GCGR-related hyperglucagonemia,GCGR,glucagon receptor,Disease-causing germline mutation(s) in,Assessed
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,PURA,purine rich element binding protein A,Disease-causing germline mutation(s) in,Assessed
438207,Severe autosomal recessive macrothrombocytopenia,PRKACG,protein kinase cAMP-activated catalytic subunit gamma,Disease-causing germline mutation(s) (loss of function) in,Assessed
438207,Severe autosomal recessive macrothrombocytopenia,GNE,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,Disease-causing germline mutation(s) in,Assessed
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,MEGF10,multiple EGF like domains 10,Disease-causing germline mutation(s) in,Assessed
439218,KCNQ2-related developmental and epileptic encephalopathy,KCNQ2,potassium voltage-gated channel subfamily Q member 2,Disease-causing germline mutation(s) in,Assessed
439822,PDE4D haploinsufficiency syndrome,PDE4D,phosphodiesterase 4D,Disease-causing germline mutation(s) (loss of function) in,Assessed
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,PRKAG2,protein kinase AMP-activated non-catalytic subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,KIF14,kinesin family member 14,Disease-causing germline mutation(s) (loss of function) in,Assessed
440402,Interstitial lung disease due to ABCA3 deficiency,ABCA3,ATP binding cassette subfamily A member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,COL11A1,collagen type XI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
440392,Interstitial lung disease due to SP-C deficiency,SFTPC,surfactant protein C,Disease-causing germline mutation(s) in,Assessed
440713,Isolated sedoheptulokinase deficiency,SHPK,sedoheptulokinase,Disease-causing germline mutation(s) in,Assessed
440731,L-ferritin deficiency,FTL,ferritin light chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
440731,L-ferritin deficiency,FTL,ferritin light chain,Disease-causing germline mutation(s) (gain of function) in,Assessed
440427,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,MARS1,methionyl-tRNA synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
440437,Familial colorectal cancer Type X,BMPR1A,bone morphogenetic protein receptor type 1A,Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,NPAT,"nuclear protein, coactivator of histone transcription",Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,MUTYH,mutY DNA glycosylase,Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,SEMA4A,semaphorin 4A,Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,RPS20,ribosomal protein S20,Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,POLE,"DNA polymerase epsilon, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,POLD1,"DNA polymerase delta 1, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,BRCA2,BRCA2 DNA repair associated,Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,ATM,ATM serine/threonine kinase,Disease-causing germline mutation(s) in,Assessed
440437,Familial colorectal cancer Type X,CHEK2,checkpoint kinase 2,Disease-causing germline mutation(s) in,Assessed
440706,Ribose-5-P isomerase deficiency,RPIA,ribose 5-phosphate isomerase A,Disease-causing germline mutation(s) in,Assessed
441447,Early-onset posterior subcapsular cataract,LEMD2,LEM domain nuclear envelope protein 2,Disease-causing germline mutation(s) in,Assessed
441447,Early-onset posterior subcapsular cataract,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
441447,Early-onset posterior subcapsular cataract,CHMP4B,charged multivesicular body protein 4B,Disease-causing germline mutation(s) (gain of function) in,Assessed
441447,Early-onset posterior subcapsular cataract,EPHA2,EPH receptor A2,Disease-causing germline mutation(s) in,Assessed
441447,Early-onset posterior subcapsular cataract,UNC45B,unc-45 myosin chaperone B,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,BFSP2,beaded filament structural protein 2,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYAA,crystallin alpha A,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYAB,crystallin alpha B,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYBA1,crystallin beta A1,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYBA4,crystallin beta A4,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYGC,crystallin gamma C,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYGD,crystallin gamma D,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,HSF4,heat shock transcription factor 4,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,MIP,major intrinsic protein of lens fiber,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYGS,crystallin gamma S,Disease-causing germline mutation(s) in,Assessed
441452,Early-onset lamellar cataract,CRYGB,crystallin gamma B,Disease-causing germline mutation(s) in,Assessed
443057,Sporadic porphyria cutanea tarda,HFE,homeostatic iron regulator,Major susceptibility factor in,Assessed
443062,Familial porphyria cutanea tarda,UROD,uroporphyrinogen decarboxylase,Disease-causing germline mutation(s) (loss of function) in,Assessed
443062,Familial porphyria cutanea tarda,HFE,homeostatic iron regulator,Modifying germline mutation in,Assessed
443073,Charcot-Marie-Tooth disease type 2S,IGHMBP2,immunoglobulin mu DNA binding protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,ACTL6B,actin like 6B,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,GABRG2,gamma-aminobutyric acid type A receptor subunit gamma2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,GABRA2,gamma-aminobutyric acid type A receptor subunit alpha2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,FZR1,fizzy and cell division cycle 20 related 1,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,GABRA5,gamma-aminobutyric acid type A receptor subunit alpha5,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,PACS2,phosphofurin acidic cluster sorting protein 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,YWHAG,tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,UBA5,ubiquitin like modifier activating enzyme 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,GRIN2D,glutamate ionotropic receptor NMDA type subunit 2D,Disease-causing germline mutation(s) (gain of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,DALRD3,DALR anticodon binding domain containing 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,TRAK1,trafficking kinesin protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SLC1A2,solute carrier family 1 member 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,AP3B2,adaptor related protein complex 3 subunit beta 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,ATP6V1A,ATPase H+ transporting V1 subunit A,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SCN3A,sodium voltage-gated channel alpha subunit 3,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,GABRB2,gamma-aminobutyric acid type A receptor subunit beta2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CLTC,clathrin heavy chain,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,DEPDC5,"DEP domain containing 5, GATOR1 subcomplex subunit",Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,NUS1,NUS1 dehydrodolichyl diphosphate synthase subunit,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CYFIP2,cytoplasmic FMR1 interacting protein 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,FBXO28,F-box protein 28,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,NTRK2,neurotrophic receptor tyrosine kinase 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,KCNC2,potassium voltage-gated channel subfamily C member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,KCNH5,potassium voltage-gated channel subfamily H member 5,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SLC38A3,solute carrier family 38 member 3,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,FGF12,fibroblast growth factor 12,Disease-causing germline mutation(s) (gain of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SZT2,SZT2 subunit of KICSTOR complex,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CELF2,CUGBP Elav-like family member 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,DHDDS,dehydrodolichyl diphosphate synthase subunit,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,PPP3CA,protein phosphatase 3 catalytic subunit alpha,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SYNJ1,synaptojanin 1,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,FOXG1,forkhead box G1,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SYNGAP1,synaptic Ras GTPase activating protein 1,Candidate gene tested in,Not yet assessed
442835,Non-specific early-onset epileptic encephalopathy,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,AARS1,alanyl-tRNA synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SCN8A,sodium voltage-gated channel alpha subunit 8,Disease-causing germline mutation(s) (gain of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,NECAP1,NECAP endocytosis associated 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,HCN1,hyperpolarization activated cyclic nucleotide gated potassium channel 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,SLC13A5,solute carrier family 13 member 5,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,KCNB1,potassium voltage-gated channel subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,DNM1,dynamin 1,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,KCNA2,potassium voltage-gated channel subfamily A member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,KCNA2,potassium voltage-gated channel subfamily A member 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,EEF1A2,eukaryotic translation elongation factor 1 alpha 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CNKSR2,connector enhancer of kinase suppressor of Ras 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,PARS2,"prolyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,UFSP2,UFM1 specific peptidase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,ATP1A2,ATPase Na+/K+ transporting subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,ATP1A3,ATPase Na+/K+ transporting subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,GABBR2,gamma-aminobutyric acid type B receptor subunit 2,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CACNA1B,calcium voltage-gated channel subunit alpha1 B,Disease-causing germline mutation(s) (loss of function) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CDK19,cyclin dependent kinase 19,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) in,Assessed
442835,Non-specific early-onset epileptic encephalopathy,CACNA2D1,calcium voltage-gated channel auxiliary subunit alpha2delta 1,Disease-causing germline mutation(s) in,Assessed
443197,X-linked erythropoietic protoporphyria,ALAS2,5'-aminolevulinate synthase 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
298,Mitochondrial neurogastrointestinal encephalomyopathy,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
298,Mitochondrial neurogastrointestinal encephalomyopathy,TYMP,thymidine phosphorylase,Disease-causing germline mutation(s) (loss of function) in,Assessed
298,Mitochondrial neurogastrointestinal encephalomyopathy,RRM2B,ribonucleotide reductase regulatory TP53 inducible subunit M2B,Disease-causing germline mutation(s) in,Assessed
298,Mitochondrial neurogastrointestinal encephalomyopathy,LIG3,DNA ligase 3,Disease-causing germline mutation(s) in,Assessed
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,SLC6A2,solute carrier family 6 member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
552,MODY,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
552,MODY,CEL,carboxyl ester lipase,Disease-causing germline mutation(s) in,Assessed
552,MODY,GCK,glucokinase,Disease-causing germline mutation(s) in,Assessed
552,MODY,HNF4A,hepatocyte nuclear factor 4 alpha,Disease-causing germline mutation(s) in,Assessed
552,MODY,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) in,Assessed
552,MODY,KLF11,KLF transcription factor 11,Disease-causing germline mutation(s) in,Assessed
552,MODY,NEUROD1,neuronal differentiation 1,Disease-causing germline mutation(s) in,Assessed
552,MODY,PDX1,pancreatic and duodenal homeobox 1,Disease-causing germline mutation(s) in,Assessed
552,MODY,HNF1A,HNF1 homeobox A,Disease-causing germline mutation(s) in,Assessed
552,MODY,INS,insulin,Disease-causing germline mutation(s) in,Assessed
552,MODY,PAX4,paired box 4,Disease-causing germline mutation(s) in,Assessed
552,MODY,BLK,"BLK proto-oncogene, Src family tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
552,MODY,APPL1,"adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1",Disease-causing germline mutation(s) (loss of function) in,Assessed
443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",AKR1C2,aldo-keto reductase family 1 member C2,Disease-causing germline mutation(s) (loss of function) in,Assessed
443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",AKR1C4,aldo-keto reductase family 1 member C4,Modifying germline mutation in,Assessed
443167,NUT midline carcinoma,NUTM1,NUT midline carcinoma family member 1,Part of a fusion gene in,Assessed
443167,NUT midline carcinoma,BRD4,bromodomain containing 4,Part of a fusion gene in,Assessed
130,Brugada syndrome,HCN4,hyperpolarization activated cyclic nucleotide gated potassium channel 4,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,ABCC9,ATP binding cassette subfamily C member 9,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,CACNB2,calcium voltage-gated channel auxiliary subunit beta 2,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,CACNA1C,calcium voltage-gated channel subunit alpha1 C,Disease-causing germline mutation(s) in,Assessed
130,Brugada syndrome,CACNA2D1,calcium voltage-gated channel auxiliary subunit alpha2delta 1,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,KCNE3,potassium voltage-gated channel subfamily E regulatory subunit 3,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,GPD1L,glycerol-3-phosphate dehydrogenase 1 like,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,KCND3,potassium voltage-gated channel subfamily D member 3,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,SCN3B,sodium voltage-gated channel beta subunit 3,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,TRPM4,transient receptor potential cation channel subfamily M member 4,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,SCN10A,sodium voltage-gated channel alpha subunit 10,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,SLMAP,sarcolemma associated protein,Disease-causing germline mutation(s) in,Assessed
130,Brugada syndrome,SCN1B,sodium voltage-gated channel beta subunit 1,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,AKAP9,A-kinase anchoring protein 9,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,KCNE5,potassium voltage-gated channel subfamily E regulatory subunit 5,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,RANGRF,RAN guanine nucleotide release factor,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) in,Assessed
130,Brugada syndrome,SCNN1A,sodium channel epithelial 1 subunit alpha,Disease-causing germline mutation(s) in,Assessed
130,Brugada syndrome,SEMA3A,semaphorin 3A,Disease-causing germline mutation(s) in,Assessed
130,Brugada syndrome,SCN2B,sodium voltage-gated channel beta subunit 2,Disease-causing germline mutation(s) in,Assessed
130,Brugada syndrome,KCNJ8,potassium inwardly rectifying channel subfamily J member 8,Candidate gene tested in,Not yet assessed
130,Brugada syndrome,PKP2,plakophilin 2,Candidate gene tested in,Not yet assessed
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,ADA,adenosine deaminase,Disease-causing germline mutation(s) in,Assessed
443162,NDE1-related microhydranencephaly,NDE1,nudE neurodevelopment protein 1,Disease-causing germline mutation(s) in,Assessed
443811,PGM3-CDG,PGM3,phosphoglucomutase 3,Disease-causing germline mutation(s) in,Assessed
443950,DNAJB2-related Charcot-Marie-Tooth disease type 2,DNAJB2,DnaJ heat shock protein family (Hsp40) member B2,Disease-causing germline mutation(s) in,Assessed
443988,Ventriculomegaly-cystic kidney disease,CRB2,crumbs cell polarity complex component 2,Disease-causing germline mutation(s) in,Assessed
444092,Autoimmune interstitial lung disease-arthritis syndrome,COPA,coat protein complex I subunit alpha,Disease-causing germline mutation(s) in,Assessed
444099,Autosomal dominant spastic paraplegia type 73,CPT1C,carnitine palmitoyltransferase 1C,Disease-causing germline mutation(s) in,Assessed
444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,CAST,calpastatin,Disease-causing germline mutation(s) (loss of function) in,Assessed
443995,Mandibulofacial dysostosis with alopecia,EDNRA,endothelin receptor type A,Disease-causing germline mutation(s) (gain of function) in,Assessed
444048,"46,XX ovarian dysgenesis-short stature syndrome",MCM9,minichromosome maintenance 9 homologous recombination repair factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
444013,Combined oxidative phosphorylation defect type 23,GTPBP3,"GTP binding protein 3, mitochondrial",Disease-causing germline mutation(s) in,Assessed
444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,CENPF,centromere protein F,Disease-causing germline mutation(s) (loss of function) in,Assessed
444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,AFF4,ALF transcription elongation factor 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
444072,Cerebellar-facial-dental syndrome,BRF1,BRF1 general transcription factor IIIB subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,TPP2,tripeptidyl peptidase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
444458,Combined oxidative phosphorylation defect type 24,NARS2,"asparaginyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
445110,Limb-girdle muscular dystrophy due to POMK deficiency,POMK,protein O-mannose kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,DNAJC3,DnaJ heat shock protein family (Hsp40) member C3,Disease-causing germline mutation(s) (loss of function) in,Assessed
445038,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,CLPB,ClpB family mitochondrial disaggregase,Disease-causing germline mutation(s) (loss of function) in,Assessed
445018,Syndromic autoimmune enteropathy due to LRBA deficiency,LRBA,LPS responsive beige-like anchor protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
447731,NIK deficiency,MAP3K14,mitogen-activated protein kinase kinase kinase 14,Disease-causing germline mutation(s) (loss of function) in,Assessed
447737,Combined immunodeficiency due to DOCK2 deficiency,DOCK2,dedicator of cytokinesis 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
447740,Aggressive periodontitis,FPR1,formyl peptide receptor 1,Disease-causing germline mutation(s) in,Assessed
447877,Polymerase proofreading-related polyposis,POLE,"DNA polymerase epsilon, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
447877,Polymerase proofreading-related polyposis,POLD1,"DNA polymerase delta 1, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
447896,Tremor-ataxia-central hypomyelination syndrome,POLR3A,RNA polymerase III subunit A,Disease-causing germline mutation(s) in,Assessed
447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,POLR3A,RNA polymerase III subunit A,Disease-causing germline mutation(s) in,Assessed
447784,Mitochondrial pyruvate carrier deficiency,MPC1,mitochondrial pyruvate carrier 1,Disease-causing germline mutation(s) in,Assessed
447757,Autosomal dominant spastic paraplegia type 9B,ALDH18A1,aldehyde dehydrogenase 18 family member A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
447753,Autosomal dominant spastic paraplegia type 9A,ALDH18A1,aldehyde dehydrogenase 18 family member A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
447760,Autosomal recessive spastic paraplegia type 9B,ALDH18A1,aldehyde dehydrogenase 18 family member A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,PRKAR1B,protein kinase cAMP-dependent type I regulatory subunit beta,Disease-causing germline mutation(s) in,Assessed
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,STUB1,STIP1 homology and U-box containing protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
412181,Epidermolysis bullosa simplex due to BP230 deficiency,DST,dystonin,Disease-causing germline mutation(s) in,Assessed
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,AHDC1,AT-hook DNA binding motif containing 1,Disease-causing germline mutation(s) in,Assessed
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,EXPH5,exophilin 5,Disease-causing germline mutation(s) in,Assessed
412206,Primary failure of tooth eruption,PTH1R,parathyroid hormone 1 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
420179,Malan overgrowth syndrome,NFIX,nuclear factor I X,Disease-causing germline mutation(s) in,Assessed
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,CSF3R,colony stimulating factor 3 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
420728,Combined oxidative phosphorylation defect type 20,VARS2,"valyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
420733,Combined oxidative phosphorylation defect type 21,TARS2,"threonyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
420741,RIDDLE syndrome,RNF168,ring finger protein 168,Disease-causing germline mutation(s) in,Assessed
420492,"Adult-onset cervical dystonia, DYT23 type",CIZ1,CDKN1A interacting zinc finger protein 1,Candidate gene tested in,Not yet assessed
420485,Cranio-cervical dystonia with laryngeal and upper-limb involvement,ANO3,anoctamin 3,Disease-causing germline mutation(s) in,Assessed
420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",GAA,alpha glucosidase,Disease-causing germline mutation(s) in,Assessed
420611,Transient myeloproliferative syndrome,GATA1,GATA binding protein 1,Disease-causing somatic mutation(s) in,Assessed
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,CXCR2,C-X-C motif chemokine receptor 2,Disease-causing germline mutation(s) in,Assessed
420686,Woolly hair-palmoplantar keratoderma syndrome,KANK2,KN motif and ankyrin repeat domains 2,Disease-causing germline mutation(s) in,Assessed
420561,Temple-Baraitser syndrome,KCNH1,potassium voltage-gated channel subfamily H member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
420573,Severe combined immunodeficiency due to CTPS1 deficiency,CTPS1,CTP synthase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
420566,Bleeding disorder due to CalDAG-GEFI deficiency,RASGRP2,RAS guanyl releasing protein 2,Disease-causing germline mutation(s) in,Assessed
423461,Mucolipidosis type III alpha/beta,GNPTAB,N-acetylglucosamine-1-phosphate transferase subunits alpha and beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
423470,Mucolipidosis type III gamma,GNPTG,N-acetylglucosamine-1-phosphate transferase subunit gamma,Disease-causing germline mutation(s) (loss of function) in,Assessed
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,GRHL2,grainyhead like transcription factor 2,Disease-causing germline mutation(s) in,Assessed
423384,Severe congenital neutropenia due to JAGN1 deficiency,JAGN1,jagunal vesicle mediated transporter 1,Disease-causing germline mutation(s) in,Assessed
423296,Spinocerebellar ataxia type 38,ELOVL5,ELOVL fatty acid elongase 5,Disease-causing germline mutation(s) in,Assessed
423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,QARS1,glutaminyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
423479,X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency,PRPS1,phosphoribosyl pyrophosphate synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
422526,Hereditary clear cell renal cell carcinoma,OGG1,8-oxoguanine DNA glycosylase,Candidate gene tested in,Not yet assessed
422526,Hereditary clear cell renal cell carcinoma,SLC49A4,solute carrier family 49 member 4,Candidate gene tested in,Not yet assessed
422526,Hereditary clear cell renal cell carcinoma,FLCN,folliculin,Candidate gene tested in,Not yet assessed
422526,Hereditary clear cell renal cell carcinoma,RNF139,ring finger protein 139,Part of a fusion gene in,Assessed
422526,Hereditary clear cell renal cell carcinoma,FHIT,fragile histidine triad diadenosine triphosphatase,Part of a fusion gene in,Assessed
422526,Hereditary clear cell renal cell carcinoma,HSPBAP1,HSPB1 associated protein 1,Part of a fusion gene in,Assessed
422526,Hereditary clear cell renal cell carcinoma,DIRC3,disrupted in renal carcinoma 3,Part of a fusion gene in,Assessed
423275,Spinocerebellar ataxia type 40,CCDC88C,coiled-coil and HOOK domain protein 88C,Disease-causing germline mutation(s) (gain of function) in,Assessed
424107,Congenital myopathy with myasthenic-like onset,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,MAB21L2,mab-21 like 2,Disease-causing germline mutation(s) in,Assessed
424261,TOR1AIP1-related limb-girdle muscular dystrophy,TOR1AIP1,torsin 1A interacting protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
424027,Progressive myoclonic epilepsy type 8,CERS1,ceramide synthase 1,Disease-causing germline mutation(s) in,Assessed
423894,Microcephaly-complex motor and sensory axonal neuropathy syndrome,VRK1,VRK serine/threonine kinase 1,Disease-causing germline mutation(s) in,Assessed
425120,STING-associated vasculopathy with onset in infancy,STING1,stimulator of interferon response cGAMP interactor 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,NADK2,"NAD kinase 2, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
431272,X-linked scapuloperoneal muscular dystrophy,FHL1,four and a half LIM domains 1,Disease-causing germline mutation(s) in,Assessed
431329,Autosomal recessive spastic paraplegia type 57,TFG,trafficking from ER to golgi regulator,Disease-causing germline mutation(s) in,Assessed
431255,Scapuloperoneal spinal muscular atrophy,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) in,Assessed
431149,Combined immunodeficiency due to OX40 deficiency,TNFRSF4,TNF receptor superfamily member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,IFNAR2,interferon alpha and beta receptor subunit 2,Major susceptibility factor in,Assessed
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,STAT2,signal transducer and activator of transcription 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
435438,Progressive myoclonic epilepsy type 7,KCNC1,potassium voltage-gated channel subfamily C member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,VCP,valosin containing protein,Disease-causing germline mutation(s) in,Assessed
434179,Orofaciodigital syndrome type 14,C2CD3,C2 domain containing 3 centriole elongation regulator,Disease-causing germline mutation(s) in,Assessed
504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,RFC1,replication factor C subunit 1,Disease-causing germline mutation(s) in,Assessed
504523,Severe combined immunodeficiency due to LAT deficiency,LAT,linker for activation of T cells,Disease-causing germline mutation(s) in,Assessed
504530,Combined immunodeficiency due to Moesin deficiency,MSN,moesin,Disease-causing germline mutation(s) in,Assessed
26793,Very long chain acyl-CoA dehydrogenase deficiency,ACADVL,acyl-CoA dehydrogenase very long chain,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,SLC25A11,solute carrier family 25 member 11,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,KIF1B,kinesin family member 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,MDH2,malate dehydrogenase 2,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,DLST,dihydrolipoamide S-succinyltransferase,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,RET,ret proto-oncogene,Candidate gene tested in,Not yet assessed
29072,Hereditary pheochromocytoma-paraganglioma,SDHA,succinate dehydrogenase complex flavoprotein subunit A,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,SDHC,succinate dehydrogenase complex subunit C,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,SDHD,succinate dehydrogenase complex subunit D,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,FH,fumarate hydratase,Disease-causing germline mutation(s) (loss of function) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,TMEM127,transmembrane protein 127,Candidate gene tested in,Not yet assessed
29072,Hereditary pheochromocytoma-paraganglioma,MAX,MYC associated transcriptional regulator X,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,NF1,neurofibromin 1,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,VHL,von Hippel-Lindau tumor suppressor,Disease-causing germline mutation(s) in,Assessed
29072,Hereditary pheochromocytoma-paraganglioma,SDHAF2,succinate dehydrogenase complex assembly factor 2,Disease-causing germline mutation(s) in,Assessed
28378,Tyrosinemia type 2,TAT,tyrosine aminotransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
29207,Reactive arthritis,HLA-B,"major histocompatibility complex, class I, B",Biomarker tested in,Not yet assessed
29207,Reactive arthritis,HLA-B,"major histocompatibility complex, class I, B",Major susceptibility factor in,Assessed
29073,Multiple myeloma,CCND1,cyclin D1,Major susceptibility factor in,Assessed
320,Apparent mineralocorticoid excess,HSD11B2,hydroxysteroid 11-beta dehydrogenase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
230,Dopamine beta-hydroxylase deficiency,DBH,dopamine beta-hydroxylase,Disease-causing germline mutation(s) in,Assessed
725,Developmental and epileptic encephalopathy with spike-wave activation in sleep,GRIN2A,glutamate ionotropic receptor NMDA type subunit 2A,Disease-causing germline mutation(s) in,Assessed
725,Developmental and epileptic encephalopathy with spike-wave activation in sleep,FRRS1L,ferric chelate reductase 1 like,Candidate gene tested in,Assessed
404,Familial hyperaldosteronism type II,CLCN2,chloride voltage-gated channel 2,Disease-causing germline mutation(s) in,Assessed
162,Congenital cataract-anterior segment dysgenesis syndrome,PITX3,paired like homeodomain 3,Disease-causing germline mutation(s) in,Assessed
545,Follicular lymphoma,BCL2,BCL2 apoptosis regulator,Part of a fusion gene in,Assessed
545,Follicular lymphoma,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
545,Follicular lymphoma,BCL6,BCL6 transcription repressor,Part of a fusion gene in,Assessed
545,Follicular lymphoma,IGH,immunoglobulin heavy locus,Part of a fusion gene in,Assessed
88,Idiopathic aplastic anemia,PRF1,perforin 1,Major susceptibility factor in,Assessed
88,Idiopathic aplastic anemia,SBDS,SBDS ribosome maturation factor,Major susceptibility factor in,Assessed
88,Idiopathic aplastic anemia,IFNG,interferon gamma,Major susceptibility factor in,Assessed
88,Idiopathic aplastic anemia,TERT,telomerase reverse transcriptase,Major susceptibility factor in,Assessed
88,Idiopathic aplastic anemia,TERC,telomerase RNA component,Major susceptibility factor in,Assessed
824,Primary myelofibrosis,JAK2,Janus kinase 2,Disease-causing somatic mutation(s) in,Assessed
824,Primary myelofibrosis,MPL,"MPL proto-oncogene, thrombopoietin receptor",Disease-causing somatic mutation(s) in,Assessed
824,Primary myelofibrosis,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
824,Primary myelofibrosis,CALR,calreticulin,Disease-causing somatic mutation(s) in,Assessed
729,Polycythemia vera,JAK2,Janus kinase 2,Disease-causing somatic mutation(s) in,Assessed
25980,X-linked myopathy with excessive autophagy,VMA21,vacuolar ATPase assembly factor VMA21,Disease-causing germline mutation(s) in,Assessed
26106,Hereditary diffuse gastric cancer,CDH1,cadherin 1,Disease-causing germline mutation(s) in,Assessed
26106,Hereditary diffuse gastric cancer,MAP3K6,mitogen-activated protein kinase kinase kinase 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
26106,Hereditary diffuse gastric cancer,CTNNA1,catenin alpha 1,Candidate gene tested in,Not yet assessed
26792,Short chain acyl-CoA dehydrogenase deficiency,ACADS,acyl-CoA dehydrogenase short chain,Disease-causing germline mutation(s) in,Assessed
353,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,SGCG,sarcoglycan gamma,Disease-causing germline mutation(s) in,Assessed
219,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,SGCD,sarcoglycan delta,Disease-causing germline mutation(s) in,Assessed
119,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,SGCB,sarcoglycan beta,Disease-causing germline mutation(s) in,Assessed
603,"Distal myopathy, Welander type",TIA1,TIA1 cytotoxic granule associated RNA binding protein,Disease-causing germline mutation(s) (gain of function) in,Assessed
603,"Distal myopathy, Welander type",SQSTM1,sequestosome 1,Modifying germline mutation in,Assessed
603,"Distal myopathy, Welander type",TIA1,TIA1 cytotoxic granule associated RNA binding protein,Modifying germline mutation in,Assessed
505227,Combined immunodeficiency due to GINS1 deficiency,GINS1,GINS complex subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
588,Muscle-eye-brain disease,CRPPA,CDP-L-ribitol pyrophosphorylase A,Disease-causing germline mutation(s) in,Assessed
588,Muscle-eye-brain disease,LARGE1,LARGE xylosyl- and glucuronyltransferase 1,Candidate gene tested in,Not yet assessed
588,Muscle-eye-brain disease,POMGNT1,"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",Disease-causing germline mutation(s) (loss of function) in,Assessed
588,Muscle-eye-brain disease,POMT1,protein O-mannosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
588,Muscle-eye-brain disease,POMT2,protein O-mannosyltransferase 2,Disease-causing germline mutation(s) in,Assessed
588,Muscle-eye-brain disease,FKTN,fukutin,Disease-causing germline mutation(s) in,Assessed
588,Muscle-eye-brain disease,FKRP,fukutin related protein,Disease-causing germline mutation(s) in,Assessed
588,Muscle-eye-brain disease,B3GALNT2,"beta-1,3-N-acetylgalactosaminyltransferase 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
588,Muscle-eye-brain disease,GMPPB,GDP-mannose pyrophosphorylase B,Disease-causing germline mutation(s) in,Assessed
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,OTUD6B,OTU deubiquitinase 6B,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,COL4A1,collagen type IV alpha 1 chain,Candidate gene tested in,Not yet assessed
899,Walker-Warburg syndrome,POMGNT1,"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",Disease-causing germline mutation(s) in,Assessed
899,Walker-Warburg syndrome,POMT1,protein O-mannosyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,POMT2,protein O-mannosyltransferase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,FKTN,fukutin,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,FKRP,fukutin related protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,LARGE1,LARGE xylosyl- and glucuronyltransferase 1,Disease-causing germline mutation(s) in,Assessed
899,Walker-Warburg syndrome,DAG1,dystroglycan 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,CRPPA,CDP-L-ribitol pyrophosphorylase A,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,POMGNT2,"protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,RXYLT1,ribitol xylosyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,B3GALNT2,"beta-1,3-N-acetylgalactosaminyltransferase 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,B4GAT1,"beta-1,4-glucuronyltransferase 1",Disease-causing germline mutation(s) (loss of function) in,Assessed
899,Walker-Warburg syndrome,POMK,protein O-mannose kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
505216,3-methylglutaconic aciduria type 9,TIMM50,translocase of inner mitochondrial membrane 50,Disease-causing germline mutation(s) in,Assessed
272,"Congenital muscular dystrophy, Fukuyama type",FKTN,fukutin,Disease-causing germline mutation(s) in,Assessed
505208,3-methylglutaconic aciduria type 8,HTRA2,HtrA serine peptidase 2,Disease-causing germline mutation(s) in,Assessed
268,Dysferlin-related limb-girdle muscular dystrophy R2,DYSF,dysferlin,Disease-causing germline mutation(s) in,Assessed
600,Vocal cord and pharyngeal distal myopathy,MATR3,matrin 3,Disease-causing germline mutation(s) in,Assessed
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,VPS33A,VPS33A core subunit of CORVET and HOPS complexes,Disease-causing germline mutation(s) in,Assessed
609,Tibial muscular dystrophy,TTN,titin,Disease-causing germline mutation(s) in,Assessed
602,GNE myopathy,GNE,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,Disease-causing germline mutation(s) in,Assessed
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,SLC30A9,solute carrier family 30 member 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
508093,MEPAN syndrome,MECR,mitochondrial trans-2-enoyl-CoA reductase,Disease-causing germline mutation(s) in,Assessed
508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,EXTL3,exostosin like glycosyltransferase 3,Disease-causing germline mutation(s) in,Assessed
508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,MYSM1,"Myb like, SWIRM and MPN domains 1",Disease-causing germline mutation(s) in,Assessed
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,RMI2,RecQ mediated genome instability 2,Disease-causing germline mutation(s) in,Assessed
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,TOP3A,DNA topoisomerase III alpha,Disease-causing germline mutation(s) in,Assessed
508529,Intermediate epidermolysis bullosa simplex with cardiomyopathy,KLHL24,kelch like family member 24,Disease-causing germline mutation(s) in,Assessed
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,DNAJC12,DnaJ heat shock protein family (Hsp40) member C12,Disease-causing germline mutation(s) in,Assessed
508488,8q24.3 microdeletion syndrome,PUF60,poly(U) binding splicing factor 60,Role in the phenotype of,Assessed
508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,HYAL2,hyaluronidase 2,Disease-causing germline mutation(s) in,Not yet assessed
508501,Orofaciodigital syndrome type 18,IFT57,intraflagellar transport 57,Disease-causing germline mutation(s) in,Assessed
508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,PUF60,poly(U) binding splicing factor 60,Disease-causing germline mutation(s) (loss of function) in,Assessed
505652,CDKL5-deficiency disorder,CDKL5,cyclin dependent kinase like 5,Disease-causing germline mutation(s) in,Assessed
506334,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,SGPL1,sphingosine-1-phosphate lyase 1,Disease-causing germline mutation(s) in,Assessed
506307,Stromme syndrome,CENPF,centromere protein F,Disease-causing germline mutation(s) in,Assessed
506358,Gabriele-de Vries syndrome,YY1,YY1 transcription factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,SELENOI,selenoprotein I,Disease-causing germline mutation(s) (loss of function) in,Assessed
495274,Charcot-Marie-Tooth disease type 2T,MME,membrane metalloendopeptidase,Disease-causing germline mutation(s) (loss of function) in,Assessed
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,HIKESHI,heat shock protein nuclear import factor hikeshi,Disease-causing germline mutation(s) in,Assessed
495818,9q33.3q34.11 microdeletion syndrome,LMX1B,LIM homeobox transcription factor 1 beta,Role in the phenotype of,Assessed
495818,9q33.3q34.11 microdeletion syndrome,STXBP1,syntaxin binding protein 1,Role in the phenotype of,Assessed
495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,MAB21L1,mab-21 like 1,Disease-causing germline mutation(s) in,Assessed
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,TBCD,tubulin folding cofactor D,Disease-causing germline mutation(s) (loss of function) in,Assessed
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,KY,kyphoscoliosis peptidase,Disease-causing germline mutation(s) in,Assessed
496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,KY,kyphoscoliosis peptidase,Disease-causing germline mutation(s) in,Assessed
496751,EVEN-plus syndrome,HSPA9,heat shock protein family A (Hsp70) member 9,Disease-causing germline mutation(s) in,Assessed
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,TBCE,tubulin folding cofactor E,Disease-causing germline mutation(s) in,Assessed
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,ATAD3A,ATPase family AAA domain containing 3A,Disease-causing germline mutation(s) in,Assessed
494433,MIRAGE syndrome,SAMD9,sterile alpha motif domain containing 9,Disease-causing germline mutation(s) in,Assessed
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,EXOSC2,exosome component 2,Disease-causing germline mutation(s) in,Assessed
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,DIAPH1,diaphanous related formin 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
494344,RERE-related neurodevelopmental syndrome,RERE,arginine-glutamic acid dipeptide repeats,Disease-causing germline mutation(s) (loss of function) in,Assessed
494547,Squamous cell carcinoma of the hypopharynx,TNFRSF10B,TNF receptor superfamily member 10b,Major susceptibility factor in,Assessed
494547,Squamous cell carcinoma of the hypopharynx,PTEN,phosphatase and tensin homolog,Disease-causing somatic mutation(s) in,Assessed
494547,Squamous cell carcinoma of the hypopharynx,ING1,inhibitor of growth family member 1,Disease-causing somatic mutation(s) in,Assessed
494541,Childhood-onset benign chorea with striatal involvement,PDE10A,phosphodiesterase 10A,Disease-causing germline mutation(s) in,Assessed
494526,Infantile-onset generalized dyskinesia with orofacial involvement,PDE10A,phosphodiesterase 10A,Disease-causing germline mutation(s) in,Assessed
494550,Squamous cell carcinoma of the larynx,TNFRSF10B,TNF receptor superfamily member 10b,Major susceptibility factor in,Assessed
494550,Squamous cell carcinoma of the larynx,PTEN,phosphatase and tensin homolog,Disease-causing somatic mutation(s) in,Assessed
494550,Squamous cell carcinoma of the larynx,ING1,inhibitor of growth family member 1,Disease-causing somatic mutation(s) in,Assessed
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,UBTF,upstream binding transcription factor,Disease-causing germline mutation(s) (gain of function) in,Assessed
500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,GPRASP2,G protein-coupled receptor associated sorting protein 2,Disease-causing germline mutation(s) in,Assessed
500150,ZTTK syndrome,SON,SON DNA and RNA binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,RAC1,Rac family small GTPase 1,Disease-causing germline mutation(s) in,Assessed
302,Inherited epidermodysplasia verruciformis,TMC6,transmembrane channel like 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
302,Inherited epidermodysplasia verruciformis,TMC8,transmembrane channel like 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
302,Inherited epidermodysplasia verruciformis,IL7,interleukin 7,Disease-causing germline mutation(s) in,Assessed
302,Inherited epidermodysplasia verruciformis,CIB1,calcium and integrin binding 1,Disease-causing germline mutation(s) in,Assessed
500166,SIN3-related intellectual disability syndrome due to a point mutation,SIN3A,SIN3 transcription regulator family member A,Disease-causing germline mutation(s) in,Assessed
500166,SIN3-related intellectual disability syndrome due to a point mutation,SIN3B,SIN3 transcription regulator family member B,Disease-causing germline mutation(s) (loss of function) in,Assessed
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,CEP55,centrosomal protein 55,Disease-causing germline mutation(s) (loss of function) in,Assessed
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,TRAPPC12,trafficking protein particle complex subunit 12,Disease-causing germline mutation(s) in,Assessed
500055,Hao-Fountain syndrome due to 16p13.2 microdeletion,USP7,ubiquitin specific peptidase 7,Role in the phenotype of,Assessed
500095,Tall stature-intellectual disability-renal anomalies syndrome,FIBP,FGF1 intracellular binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,OTULIN,OTU deubiquitinase with linear linkage specificity,Disease-causing germline mutation(s) (loss of function) in,Assessed
123,Björnstad syndrome,BCS1L,BCS1 ubiquinol-cytochrome c reductase complex chaperone,Disease-causing germline mutation(s) in,Assessed
898,Wagner disease,VCAN,versican,Disease-causing germline mutation(s) in,Assessed
500478,Squamous cell carcinoma of the oropharynx,TNFRSF10B,TNF receptor superfamily member 10b,Major susceptibility factor in,Assessed
500478,Squamous cell carcinoma of the oropharynx,PTEN,phosphatase and tensin homolog,Disease-causing somatic mutation(s) in,Assessed
500478,Squamous cell carcinoma of the oropharynx,ING1,inhibitor of growth family member 1,Disease-causing somatic mutation(s) in,Assessed
505,Graham Little-Piccardi-Lassueur syndrome,HLA-DRA,"major histocompatibility complex, class II, DR alpha",Major susceptibility factor in,Not yet assessed
170,Woolly hair,LPAR6,lysophosphatidic acid receptor 6,Disease-causing germline mutation(s) in,Assessed
170,Woolly hair,LIPH,lipase H,Disease-causing germline mutation(s) in,Assessed
170,Woolly hair,KRT74,keratin 74,Disease-causing germline mutation(s) in,Assessed
170,Woolly hair,KRT71,keratin 71,Disease-causing germline mutation(s) in,Assessed
170,Woolly hair,KRT25,keratin 25,Disease-causing germline mutation(s) in,Assessed
500548,Osteosclerotic metaphyseal dysplasia,LRRK1,leucine rich repeat kinase 1,Disease-causing germline mutation(s) in,Assessed
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,STRADA,STE20 related adaptor alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,NACC1,nucleus accumbens associated 1,Disease-causing germline mutation(s) in,Assessed
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,TNFRSF10B,TNF receptor superfamily member 10b,Major susceptibility factor in,Assessed
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,PTEN,phosphatase and tensin homolog,Disease-causing somatic mutation(s) in,Assessed
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,ING1,inhibitor of growth family member 1,Disease-causing somatic mutation(s) in,Assessed
520,Acute promyelocytic leukemia,PML,PML nuclear body scaffold,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,PRKAR1A,protein kinase cAMP-dependent type I regulatory subunit alpha,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,RARA,retinoic acid receptor alpha,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,STAT5B,signal transducer and activator of transcription 5B,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,FIP1L1,factor interacting with PAPOLA and CPSF1,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,NPM1,nucleophosmin 1,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,NABP1,nucleic acid binding protein 1,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,ZBTB16,zinc finger and BTB domain containing 16,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,NUMA1,nuclear mitotic apparatus protein 1,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,TBL1XR1,TBL1X/Y related 1,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,IRF2BP2,interferon regulatory factor 2 binding protein 2,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,STAT3,signal transducer and activator of transcription 3,Part of a fusion gene in,Assessed
520,Acute promyelocytic leukemia,BCOR,BCL6 corepressor,Part of a fusion gene in,Assessed
502363,Squamous cell carcinoma of the oral cavity,TNFRSF10B,TNF receptor superfamily member 10b,Major susceptibility factor in,Assessed
502363,Squamous cell carcinoma of the oral cavity,PTEN,phosphatase and tensin homolog,Disease-causing somatic mutation(s) in,Assessed
502363,Squamous cell carcinoma of the oral cavity,ING1,inhibitor of growth family member 1,Disease-causing somatic mutation(s) in,Assessed
502366,Squamous cell carcinoma of the lip,TNFRSF10B,TNF receptor superfamily member 10b,Major susceptibility factor in,Assessed
502366,Squamous cell carcinoma of the lip,PTEN,phosphatase and tensin homolog,Disease-causing somatic mutation(s) in,Assessed
502366,Squamous cell carcinoma of the lip,ING1,inhibitor of growth family member 1,Disease-causing somatic mutation(s) in,Assessed
502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,MSTO1,misato mitochondrial distribution and morphology regulator 1,Disease-causing germline mutation(s) in,Assessed
502430,Weiss-Kruszka Syndrome,ZNF462,zinc finger protein 462,Disease-causing germline mutation(s) in,Assessed
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,STAG1,STAG1 cohesin complex component,Disease-causing germline mutation(s) in,Assessed
502444,Alkaline ceramidase 3 deficiency,ACER3,alkaline ceramidase 3,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,NHLH2,nescient helix-loop-helix 2,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,PROK2,prokineticin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,PROKR2,prokineticin receptor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,CHD7,chromodomain helicase DNA binding protein 7,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,GNRHR,gonadotropin releasing hormone receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,KISS1R,KISS1 receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,NSMF,NMDA receptor synaptonuclear signaling and neuronal migration factor,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,GNRH1,gonadotropin releasing hormone 1,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,TAC3,tachykinin precursor 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,TACR3,tachykinin receptor 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,WDR11,WD repeat domain 11,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,HS6ST1,heparan sulfate 6-O-sulfotransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,KISS1,KiSS-1 metastasis suppressor,Disease-causing germline mutation(s) (loss of function) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,FGF17,fibroblast growth factor 17,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,DUSP6,dual specificity phosphatase 6,Disease-causing germline mutation(s) in,Assessed
432,Normosmic congenital hypogonadotropic hypogonadism,SPRY4,sprouty RTK signaling antagonist 4,Disease-causing germline mutation(s) in,Assessed
91,Aromatase deficiency,CYP19A1,cytochrome P450 family 19 subfamily A member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
785,Estrogen resistance syndrome,ESR1,estrogen receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
873,Desmoid tumor,CTNNB1,catenin beta 1,Disease-causing somatic mutation(s) in,Assessed
873,Desmoid tumor,APC,APC regulator of Wnt signaling pathway,Disease-causing somatic mutation(s) in,Assessed
703,Bullous pemphigoid,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Candidate gene tested in,Not yet assessed
703,Bullous pemphigoid,HLA-DQB1,"major histocompatibility complex, class II, DQ beta 1",Major susceptibility factor in,Not yet assessed
841,Sebocystomatosis,KRT17,keratin 17,Disease-causing germline mutation(s) in,Assessed
867,Familial multiple trichoepithelioma,CYLD,CYLD lysine 63 deubiquitinase,Disease-causing germline mutation(s) in,Assessed
735,Porokeratosis of Mibelli,MVK,mevalonate kinase,Disease-causing germline mutation(s) in,Assessed
735,Porokeratosis of Mibelli,PMVK,phosphomevalonate kinase,Disease-causing germline mutation(s) in,Assessed
497906,Childhood-onset basal ganglia degeneration syndrome,VAC14,VAC14 component of PIKFYVE complex,Disease-causing germline mutation(s) in,Assessed
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,PERP,p53 apoptosis effector related to PMP22,Disease-causing germline mutation(s) in,Assessed
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) in,Assessed
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,TRPV3,transient receptor potential cation channel subfamily V member 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
523,Hereditary leiomyomatosis and renal cell cancer,FH,fumarate hydratase,Disease-causing germline mutation(s) in,Assessed
497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,MME,membrane metalloendopeptidase,Disease-causing germline mutation(s) (loss of function) in,Assessed
497764,Spinocerebellar ataxia type 43,MME,membrane metalloendopeptidase,Disease-causing germline mutation(s) in,Assessed
530,Lipoid proteinosis,ECM1,extracellular matrix protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
734,Alpha delta granule deficiency,GFI1B,growth factor independent 1B transcriptional repressor,Disease-causing germline mutation(s) in,Assessed
721,Gray platelet syndrome,NBEAL2,neurobeachin like 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
722,Hypoplasminogenemia,PLG,plasminogen,Disease-causing germline mutation(s) in,Assessed
749,Congenital prekallikrein deficiency,KLKB1,kallikrein B1,Disease-causing germline mutation(s) in,Assessed
853,Fetal and neonatal alloimmune thrombocytopenia,GP1BA,glycoprotein Ib platelet subunit alpha,Candidate gene tested in,Not yet assessed
853,Fetal and neonatal alloimmune thrombocytopenia,GP1BB,glycoprotein Ib platelet subunit beta,Candidate gene tested in,Not yet assessed
853,Fetal and neonatal alloimmune thrombocytopenia,ITGA2B,integrin subunit alpha 2b,Candidate gene tested in,Not yet assessed
853,Fetal and neonatal alloimmune thrombocytopenia,ITGB3,integrin subunit beta 3,Major susceptibility factor in,Assessed
853,Fetal and neonatal alloimmune thrombocytopenia,ITGA2,integrin subunit alpha 2,Candidate gene tested in,Not yet assessed
853,Fetal and neonatal alloimmune thrombocytopenia,CD109,CD109 molecule,Candidate gene tested in,Not yet assessed
483,Congenital high-molecular-weight kininogen deficiency,KNG1,kininogen 1,Disease-causing germline mutation(s) in,Assessed
498359,Aquagenic palmoplantar keratoderma,CFTR,CF transmembrane conductance regulator,Candidate gene tested in,Not yet assessed
852,X-linked thrombocytopenia with normal platelets,WAS,WASP actin nucleation promoting factor,Disease-causing germline mutation(s) in,Assessed
465,Congenital plasminogen activator inhibitor type 1 deficiency,SERPINE1,serpin family E member 1,Disease-causing germline mutation(s) in,Assessed
498251,Menstrual cycle-dependent periodic fever,HTR1A,5-hydroxytryptamine receptor 1A,Candidate gene tested in,Not yet assessed
143,Parathyroid carcinoma,CDC73,cell division cycle 73,Disease-causing somatic mutation(s) in,Assessed
786,Generalized glucocorticoid resistance syndrome,NR3C1,nuclear receptor subfamily 3 group C member 1,Disease-causing germline mutation(s) in,Assessed
334,Hereditary atrial fibrillation,ABCC9,ATP binding cassette subfamily C member 9,Candidate gene tested in,Not yet assessed
334,Hereditary atrial fibrillation,PITX2,paired like homeodomain 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
334,Hereditary atrial fibrillation,GATA4,GATA binding protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,KCNE1,potassium voltage-gated channel subfamily E regulatory subunit 1,Candidate gene tested in,Not yet assessed
334,Hereditary atrial fibrillation,KCNE2,potassium voltage-gated channel subfamily E regulatory subunit 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
334,Hereditary atrial fibrillation,KCNJ2,potassium inwardly rectifying channel subfamily J member 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
334,Hereditary atrial fibrillation,KCNQ1,potassium voltage-gated channel subfamily Q member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
334,Hereditary atrial fibrillation,NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,GJA5,gap junction protein alpha 5,Disease-causing germline mutation(s) in,Assessed
334,Hereditary atrial fibrillation,SCN1B,sodium voltage-gated channel beta subunit 1,Candidate gene tested in,Not yet assessed
334,Hereditary atrial fibrillation,KCNJ3,potassium inwardly rectifying channel subfamily J member 3,Disease-causing germline mutation(s) in,Assessed
334,Hereditary atrial fibrillation,MYL4,myosin light chain 4,Disease-causing germline mutation(s) in,Assessed
334,Hereditary atrial fibrillation,TTN,titin,Major susceptibility factor in,Assessed
334,Hereditary atrial fibrillation,NKX2-6,NK2 homeobox 6,Major susceptibility factor in,Not yet assessed
334,Hereditary atrial fibrillation,SCN4B,sodium voltage-gated channel beta subunit 4,Disease-causing germline mutation(s) in,Assessed
334,Hereditary atrial fibrillation,KCNA5,potassium voltage-gated channel subfamily A member 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,NUP155,nucleoporin 155,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,NPPA,natriuretic peptide A,Disease-causing germline mutation(s) in,Assessed
334,Hereditary atrial fibrillation,SCN3B,sodium voltage-gated channel beta subunit 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,GATA6,GATA binding protein 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,GATA5,GATA binding protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,SCN2B,sodium voltage-gated channel beta subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
334,Hereditary atrial fibrillation,KCNJ5,potassium inwardly rectifying channel subfamily J member 5,Disease-causing germline mutation(s) in,Assessed
615,Familial atrial myxoma,PRKAR1A,protein kinase cAMP-dependent type I regulatory subunit alpha,Disease-causing germline mutation(s) in,Assessed
498497,Short rib-polydactyly syndrome type 5,WDR35,WD repeat domain 35,Disease-causing germline mutation(s) (loss of function) in,Assessed
498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,MYBPC1,myosin binding protein C1,Disease-causing germline mutation(s) in,Assessed
444,Marie Unna hereditary hypotrichosis,EPS8L3,EPS8 signaling adaptor L3,Disease-causing germline mutation(s) in,Assessed
444,Marie Unna hereditary hypotrichosis,HR,HR lysine demethylase and nuclear receptor corepressor,Disease-causing germline mutation(s) in,Assessed
498481,LRP5-related primary osteoporosis,LRP5,LDL receptor related protein 5,Disease-causing germline mutation(s) in,Assessed
498481,LRP5-related primary osteoporosis,LRP5,LDL receptor related protein 5,Major susceptibility factor in,Assessed
573,Monilethrix,KRT86,keratin 86,Disease-causing germline mutation(s) in,Assessed
573,Monilethrix,KRT83,keratin 83,Disease-causing germline mutation(s) in,Assessed
573,Monilethrix,KRT81,keratin 81,Disease-causing germline mutation(s) in,Assessed
573,Monilethrix,DSG4,desmoglein 4,Disease-causing germline mutation(s) in,Assessed
840,Syringocystadenoma papilliferum,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
498494,Mirror-image polydactyly,PITX1,paired like homeodomain 1,Role in the phenotype of,Assessed
384,Huriez syndrome,SMARCAD1,SNF2 related chromatin remodeling ATPase with DExD box 1,Disease-causing germline mutation(s) in,Assessed
41,Dyschromatosis symmetrica hereditaria,ADAR,adenosine deaminase RNA specific,Disease-causing germline mutation(s) in,Assessed
122,Birt-Hogg-Dubé syndrome,PRDM10,PR/SET domain 10,Disease-causing germline mutation(s) in,Assessed
122,Birt-Hogg-Dubé syndrome,FLCN,folliculin,Disease-causing germline mutation(s) in,Assessed
38,Acrokeratoelastoidosis of Costa,CCDC91,coiled-coil domain containing 91,Disease-causing germline mutation(s) in,Assessed
241,Dyschromatosis universalis hereditaria,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
316,Progressive symmetric erythrokeratodermia,TRPM4,transient receptor potential cation channel subfamily M member 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
316,Progressive symmetric erythrokeratodermia,KRT83,keratin 83,Disease-causing germline mutation(s) (loss of function) in,Assessed
316,Progressive symmetric erythrokeratodermia,KDSR,3-ketodihydrosphingosine reductase,Disease-causing germline mutation(s) (loss of function) in,Assessed
316,Progressive symmetric erythrokeratodermia,LORICRIN,loricrin cornified envelope precursor protein,Candidate gene tested in,Not yet assessed
211,Familial cylindromatosis,CYLD,CYLD lysine 63 deubiquitinase,Disease-causing germline mutation(s) in,Assessed
2908,Kindler epidermolysis bullosa,FERMT1,FERM domain containing kindlin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
779,Reynolds syndrome,LBR,lamin B receptor,Candidate gene tested in,Not yet assessed
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,ASCC1,activating signal cointegrator 1 complex subunit 1,Disease-causing germline mutation(s) in,Assessed
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,TRIP4,thyroid hormone receptor interactor 4,Disease-causing germline mutation(s) in,Assessed
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,TRIP4,thyroid hormone receptor interactor 4,Disease-causing germline mutation(s) in,Assessed
485418,EMILIN-1-related connective tissue disease,EMILIN1,elastin microfibril interfacer 1,Disease-causing germline mutation(s) in,Assessed
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,MFF,mitochondrial fission factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
485350,CLCN4-related X-linked intellectual disability syndrome,CLCN4,chloride voltage-gated channel 4,Disease-causing germline mutation(s) in,Assessed
485275,Acquired schizencephaly,EMX2,empty spiracles homeobox 2,Major susceptibility factor in,Assessed
485275,Acquired schizencephaly,SIX3,SIX homeobox 3,Major susceptibility factor in,Assessed
485275,Acquired schizencephaly,SHH,sonic hedgehog signaling molecule,Major susceptibility factor in,Assessed
482606,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,FLNA,filamin A,Disease-causing germline mutation(s) (loss of function) in,Assessed
482601,Adenylosuccinate synthetase-like 1-related distal myopathy,ADSS1,adenylosuccinate synthase 1,Disease-causing germline mutation(s) in,Assessed
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,TANGO2,transport and golgi organization 2 homolog,Disease-causing germline mutation(s) (loss of function) in,Assessed
31837,Pulmonary venoocclusive disease,BMPR2,bone morphogenetic protein receptor type 2,Candidate gene tested in,Not yet assessed
31837,Pulmonary venoocclusive disease,EIF2AK4,eukaryotic translation initiation factor 2 alpha kinase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,TAF1,TATA-box binding protein associated factor 1,Disease-causing germline mutation(s) in,Assessed
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,EMC1,ER membrane protein complex subunit 1,Disease-causing germline mutation(s) in,Assessed
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,USP9X,ubiquitin specific peptidase 9 X-linked,Disease-causing germline mutation(s) (loss of function) in,Assessed
480556,Isolated neonatal sclerosing cholangitis,DCDC2,doublecortin domain containing 2,Disease-causing germline mutation(s) in,Assessed
480541,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,BCL6,BCL6 transcription repressor,Part of a fusion gene in,Assessed
480541,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,MYC,"MYC proto-oncogene, bHLH transcription factor",Part of a fusion gene in,Assessed
480541,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,BCL2,BCL2 apoptosis regulator,Part of a fusion gene in,Assessed
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,SRC,"SRC proto-oncogene, non-receptor tyrosine kinase",Disease-causing germline mutation(s) (gain of function) in,Assessed
480682,POGLUT1-related limb-girdle muscular dystrophy R21,POGLUT1,protein O-glucosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
481665,Pseudo-TORCH syndrome type 2,USP18,ubiquitin specific peptidase 18,Disease-causing germline mutation(s) (loss of function) in,Assessed
482077,HTRA1-related autosomal dominant cerebral small vessel disease,HTRA1,HtrA serine peptidase 1,Disease-causing germline mutation(s) in,Assessed
481986,Familial schizencephaly,COL4A1,collagen type IV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
481152,PYCR2-related microcephaly-progressive leukoencephalopathy,PYCR2,pyrroline-5-carboxylate reductase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
481662,Familial Chilblain lupus,SAMHD1,SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
481662,Familial Chilblain lupus,TREX1,three prime repair exonuclease 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
481662,Familial Chilblain lupus,STING1,stimulator of interferon response cGAMP interactor 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
480476,Progressive familial intrahepatic cholestasis type 5,NR1H4,nuclear receptor subfamily 1 group H member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
480491,MYO5B-related progressive familial intrahepatic cholestasis,MYO5B,myosin VB,Disease-causing germline mutation(s) in,Assessed
480483,Progressive familial intrahepatic cholestasis type 4,TJP2,tight junction protein 2,Disease-causing germline mutation(s) in,Assessed
480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,PLAT,"plasminogen activator, tissue type",Disease-causing germline mutation(s) in,Assessed
480536,MSH3-related polyposis,MSH3,mutS homolog 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,DIAPH1,diaphanous related formin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,PLA2G4A,phospholipase A2 group IVA,Disease-causing germline mutation(s) in,Assessed
478029,Combined oxidative phosphorylation defect type 29,TXN2,thioredoxin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
478042,Combined oxidative phosphorylation defect type 30,TRMT10C,"tRNA methyltransferase 10C, mitochondrial RNase P subunit",Disease-causing germline mutation(s) in,Assessed
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,KDM1A,lysine demethylase 1A,Disease-causing germline mutation(s) in,Assessed
477857,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,RORC,RAR related orphan receptor C,Disease-causing germline mutation(s) in,Assessed
477817,PMP22-RAI1 contiguous gene duplication syndrome,RAI1,retinoic acid induced 1,Role in the phenotype of,Assessed
477831,Kosaki overgrowth syndrome,PDGFRB,platelet derived growth factor receptor beta,Disease-causing germline mutation(s) in,Assessed
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,MIPEP,mitochondrial intermediate peptidase,Disease-causing germline mutation(s) in,Assessed
478664,Hereditary sensory and autonomic neuropathy type 8,PRDM12,PR/SET domain 12,Disease-causing germline mutation(s) in,Assessed
477661,IL21-related infantile inflammatory bowel disease,IL21,interleukin 21,Disease-causing germline mutation(s) in,Assessed
477684,Combined oxidative phosphorylation defect type 26,TRMT5,tRNA methyltransferase 5,Disease-causing germline mutation(s) in,Assessed
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,GPT2,glutamic--pyruvic transaminase 2,Disease-causing germline mutation(s) in,Assessed
477738,Pediatric multiple sclerosis,HLA-DQB1,"major histocompatibility complex, class II, DQ beta 1",Biomarker tested in,Not yet assessed
477738,Pediatric multiple sclerosis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Biomarker tested in,Not yet assessed
477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,COL4A1,collagen type IV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
477742,Nodular fasciitis,USP6,ubiquitin specific peptidase 6,Part of a fusion gene in,Assessed
477742,Nodular fasciitis,MYH9,myosin heavy chain 9,Part of a fusion gene in,Assessed
477774,Combined oxidative phosphorylation defect type 27,CARS2,"cysteinyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
476119,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
476113,Combined immunodeficiency due to TFRC deficiency,TFRC,transferrin receptor,Disease-causing germline mutation(s) in,Assessed
476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,TRIO,trio Rho guanine nucleotide exchange factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
476406,Congenital generalized hypercontractile muscle stiffness syndrome,TPM3,tropomyosin 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
476394,PMP2-related Charcot-Marie-Tooth disease type 1,PMP2,peripheral myelin protein 2,Disease-causing germline mutation(s) in,Assessed
493342,Vibratory urticaria,ADGRE2,adhesion G protein-coupled receptor E2,Disease-causing germline mutation(s) (gain of function) in,Assessed
488642,TELO2-related intellectual disability-neurodevelopmental disorder,TELO2,telomere maintenance 2,Disease-causing germline mutation(s) in,Assessed
488647,DDX41-related hematologic malignancy predisposition syndrome,DDX41,DEAD-box helicase 41,Major susceptibility factor in,Assessed
488650,"Distal myopathy, Tateyama type",CAV3,caveolin 3,Disease-causing germline mutation(s) in,Assessed
488618,Transketolase deficiency,TKT,transketolase,Disease-causing germline mutation(s) in,Assessed
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,PUS3,pseudouridine synthase 3,Disease-causing germline mutation(s) in,Assessed
488632,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,TBCK,TBC1 domain containing kinase,Disease-causing germline mutation(s) in,Assessed
488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,PIGG,phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group),Disease-causing germline mutation(s) (loss of function) in,Assessed
488265,Osteofibrous dysplasia,MET,"MET proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) (gain of function) in,Assessed
488232,Split-foot malformation-mesoaxial polydactyly syndrome,MAP3K20,mitogen-activated protein kinase kinase kinase 20,Disease-causing germline mutation(s) in,Assessed
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,HARS1,histidyl-tRNA synthetase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
488437,SIX2-related frontonasal dysplasia,SIX2,SIX homeobox 2,Role in the phenotype of,Assessed
488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,GNB1,G protein subunit beta 1,Disease-causing germline mutation(s) in,Assessed
488594,Autosomal recessive spastic paraplegia type 76,CAPN1,calpain 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,MIR204,microRNA 204,Disease-causing germline mutation(s) (gain of function) in,Assessed
488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,MSMO1,methylsterol monooxygenase 1,Disease-causing germline mutation(s) in,Assessed
488191,Female infertility due to oocyte meiotic arrest,TLE6,"TLE family member 6, subcortical maternal complex member",Disease-causing germline mutation(s) in,Assessed
488191,Female infertility due to oocyte meiotic arrest,ZFP36L2,ZFP36 like 2 zinc finger CCCH-type,Disease-causing germline mutation(s) in,Assessed
488191,Female infertility due to oocyte meiotic arrest,WEE2,WEE2 oocyte meiosis inhibiting kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
488191,Female infertility due to oocyte meiotic arrest,PANX1,pannexin 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
488191,Female infertility due to oocyte meiotic arrest,PATL2,PAT1 homolog 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
488191,Female infertility due to oocyte meiotic arrest,TUBB8,tubulin beta 8 class VIII,Disease-causing germline mutation(s) in,Assessed
487796,Takenouchi-Kosaki syndrome,CDC42,cell division cycle 42,Disease-causing germline mutation(s) in,Assessed
487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,DGAT2,diacylglycerol O-acyltransferase 2,Disease-causing germline mutation(s) in,Assessed
487825,Pierpont syndrome,TBL1XR1,TBL1X/Y related 1,Disease-causing germline mutation(s) in,Assessed
31150,Tangier disease,ABCA1,ATP binding cassette subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
31043,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,CLDN16,claudin 16,Disease-causing germline mutation(s) (loss of function) in,Assessed
31112,Dermatofibrosarcoma protuberans,COL1A1,collagen type I alpha 1 chain,Part of a fusion gene in,Assessed
31112,Dermatofibrosarcoma protuberans,PDGFB,platelet derived growth factor subunit B,Part of a fusion gene in,Assessed
30924,Primary hypomagnesemia with secondary hypocalcemia,TRPM6,transient receptor potential cation channel subfamily M member 6,Disease-causing germline mutation(s) in,Assessed
30925,Hereditary arginine vasopressin deficiency,AVP,arginine vasopressin,Disease-causing germline mutation(s) (loss of function) in,Assessed
476084,BVES-related limb-girdle muscular dystrophy,POPDC1,popeye domain cAMP effector 1,Disease-causing germline mutation(s) in,Assessed
476096,Erythrokeratodermia-cardiomyopathy syndrome,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
476093,HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,HSPB8,heat shock protein family B (small) member 8,Disease-causing germline mutation(s) in,Assessed
71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,GLUL,glutamate-ammonia ligase,Disease-causing germline mutation(s) (loss of function) in,Assessed
71271,Split hand-split foot-deafness syndrome,DLX5,distal-less homeobox 5,Disease-causing germline mutation(s) in,Assessed
71275,Rh deficiency syndrome,RHCE,Rh blood group CcEe antigens,Disease-causing germline mutation(s) in,Assessed
71275,Rh deficiency syndrome,RHD,Rh blood group D antigen,Disease-causing germline mutation(s) in,Assessed
71275,Rh deficiency syndrome,RHAG,Rh associated glycoprotein,Disease-causing germline mutation(s) in,Assessed
71277,Classic glucose transporter type 1 deficiency syndrome,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,HADH,hydroxyacyl-CoA dehydrogenase,Disease-causing germline mutation(s) in,Assessed
70592,Transient predisposition to invasive pyogenic bacterial infection,MYD88,MYD88 innate immune signal transduction adaptor,Disease-causing germline mutation(s) in,Assessed
70592,Transient predisposition to invasive pyogenic bacterial infection,IRAK4,interleukin 1 receptor associated kinase 4,Disease-causing germline mutation(s) in,Assessed
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,TWNK,twinkle mtDNA helicase,Candidate gene tested in,Not yet assessed
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,SPR,sepiapterin reductase,Disease-causing germline mutation(s) in,Assessed
70573,Small cell lung cancer,RB1,RB transcriptional corepressor 1,Disease-causing somatic mutation(s) in,Assessed
70573,Small cell lung cancer,TP53,tumor protein p53,Disease-causing somatic mutation(s) in,Assessed
70573,Small cell lung cancer,TP73,tumor protein p73,Disease-causing somatic mutation(s) in,Assessed
70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",LRPPRC,leucine rich pentatricopeptide repeat containing,Disease-causing germline mutation(s) in,Assessed
70567,Cholangiocarcinoma,BRCA1,BRCA1 DNA repair associated,Disease-causing somatic mutation(s) in,Assessed
70567,Cholangiocarcinoma,BRCA2,BRCA2 DNA repair associated,Disease-causing somatic mutation(s) in,Assessed
70567,Cholangiocarcinoma,ROS1,"ROS proto-oncogene 1, receptor tyrosine kinase",Part of a fusion gene in,Assessed
70567,Cholangiocarcinoma,PTPN3,protein tyrosine phosphatase non-receptor type 3,Disease-causing somatic mutation(s) in,Assessed
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,SOX18,SRY-box transcription factor 18,Disease-causing germline mutation(s) in,Assessed
69737,Bosley-Salih-Alorainy syndrome,HOXA1,homeobox A1,Disease-causing germline mutation(s) in,Assessed
69739,Athabaskan brainstem dysgenesis syndrome,HOXA1,homeobox A1,Disease-causing germline mutation(s) in,Assessed
69663,Low phospholipid-associated cholelithiasis,ABCB4,ATP binding cassette subfamily B member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
69665,Intrahepatic cholestasis of pregnancy,NR1H4,nuclear receptor subfamily 1 group H member 4,Candidate gene tested in,Not yet assessed
69665,Intrahepatic cholestasis of pregnancy,ABCB11,ATP binding cassette subfamily B member 11,Major susceptibility factor in,Assessed
69665,Intrahepatic cholestasis of pregnancy,ABCB4,ATP binding cassette subfamily B member 4,Major susceptibility factor in,Assessed
69665,Intrahepatic cholestasis of pregnancy,ATP8B1,ATPase phospholipid transporting 8B1,Major susceptibility factor in,Assessed
69723,Tyrosinemia type 3,HPD,4-hydroxyphenylpyruvate dioxygenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
69126,PAPA syndrome,PSTPIP1,proline-serine-threonine phosphatase interacting protein 1,Disease-causing germline mutation(s) in,Assessed
69087,Naegeli-Franceschetti-Jadassohn syndrome,KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
69088,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,IKBKG,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,Disease-causing germline mutation(s) in,Assessed
69085,Limb-mammary syndrome,TP63,tumor protein p63,Disease-causing germline mutation(s) in,Assessed
69084,Pure hair and nail ectodermal dysplasia,KRT85,keratin 85,Disease-causing germline mutation(s) in,Assessed
69084,Pure hair and nail ectodermal dysplasia,KRT74,keratin 74,Disease-causing germline mutation(s) (loss of function) in,Assessed
69084,Pure hair and nail ectodermal dysplasia,HOXC13,homeobox C13,Disease-causing germline mutation(s) (loss of function) in,Assessed
69076,Familial renal glucosuria,SLC5A2,solute carrier family 5 member 2,Disease-causing germline mutation(s) in,Assessed
69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,MME,membrane metalloendopeptidase,Disease-causing germline mutation(s) in,Assessed
67046,3-methylglutaconic aciduria type 1,AUH,AU RNA binding methylglutaconyl-CoA hydratase,Disease-causing germline mutation(s) (loss of function) in,Assessed
67047,3-methylglutaconic aciduria type 3,MICOS13,mitochondrial contact site and cristae organizing system subunit 13,Disease-causing germline mutation(s) in,Assessed
67047,3-methylglutaconic aciduria type 3,OPA3,outer mitochondrial membrane lipid metabolism regulator OPA3,Disease-causing germline mutation(s) in,Assessed
67044,Thrombocytopenia with congenital dyserythropoietic anemia,GATA1,GATA binding protein 1,Disease-causing germline mutation(s) in,Assessed
67045,X-linked intellectual disability with isolated growth hormone deficiency,SOX3,SRY-box transcription factor 3,Disease-causing germline mutation(s) in,Assessed
67042,Late-onset retinal degeneration,C1QTNF5,C1q and TNF related 5,Disease-causing germline mutation(s) in,Assessed
67041,Hyaluronidase deficiency,HYAL1,hyaluronidase 1,Disease-causing germline mutation(s) in,Assessed
67038,B-cell chronic lymphocytic leukemia,P2RX7,purinergic receptor P2X 7,Biomarker tested in,Assessed
67038,B-cell chronic lymphocytic leukemia,IGHV3-21,immunoglobulin heavy variable 3-21,Biomarker tested in,Assessed
67038,B-cell chronic lymphocytic leukemia,ATM,ATM serine/threonine kinase,Disease-causing somatic mutation(s) in,Assessed
67038,B-cell chronic lymphocytic leukemia,CCND1,cyclin D1,Part of a fusion gene in,Assessed
67038,B-cell chronic lymphocytic leukemia,TP53,tumor protein p53,Disease-causing somatic mutation(s) in,Assessed
67038,B-cell chronic lymphocytic leukemia,ARL11,ARF like GTPase 11,Major susceptibility factor in,Assessed
67038,B-cell chronic lymphocytic leukemia,IGHG1,immunoglobulin heavy constant gamma 1 (G1m marker),Part of a fusion gene in,Assessed
67038,B-cell chronic lymphocytic leukemia,POT1,protection of telomeres 1,Disease-causing somatic mutation(s) in,Not yet assessed
67038,B-cell chronic lymphocytic leukemia,RPS15,ribosomal protein S15,Disease-causing somatic mutation(s) in,Assessed
67038,B-cell chronic lymphocytic leukemia,IKZF3,IKAROS family zinc finger 3,Disease-causing somatic mutation(s) in,Assessed
67036,Autosomal dominant optic atrophy and cataract,OPA3,outer mitochondrial membrane lipid metabolism regulator OPA3,Disease-causing germline mutation(s) in,Assessed
66637,Diaphanospondylodysostosis,BMPER,BMP binding endothelial regulator,Disease-causing germline mutation(s) (loss of function) in,Assessed
66634,Dilated cardiomyopathy with ataxia,DNAJC19,DnaJ heat shock protein family (Hsp40) member C19,Disease-causing germline mutation(s) in,Assessed
66631,CEDNIK syndrome,SNAP29,synaptosome associated protein 29,Disease-causing germline mutation(s) (loss of function) in,Assessed
66629,Goldberg-Shprintzen megacolon syndrome,KIFBP,kinesin family binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
66628,Obesity due to congenital leptin deficiency,LEP,leptin,Disease-causing germline mutation(s) in,Assessed
65282,Carvajal syndrome,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
65285,Lhermitte-Duclos disease,PTEN,phosphatase and tensin homolog,Disease-causing germline mutation(s) (loss of function) in,Assessed
65284,Biotin-thiamine-responsive basal ganglia disease,SLC19A3,solute carrier family 19 member 3,Disease-causing germline mutation(s) in,Assessed
65287,Beta-ureidopropionase deficiency,UPB1,beta-ureidopropionase 1,Disease-causing germline mutation(s) in,Assessed
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,PTF1A,pancreas associated transcription factor 1a,Disease-causing germline mutation(s) in,Assessed
65684,Monomelic amyotrophy,CPLANE1,ciliogenesis and planar polarity effector complex subunit 1,Major susceptibility factor in,Assessed
65684,Monomelic amyotrophy,CEP126,centrosomal protein 126,Major susceptibility factor in,Assessed
65748,Multiple self-healing squamous epithelioma,TGFBR1,transforming growth factor beta receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
65743,Autosomal dominant multiple pterygium syndrome,MYH3,myosin heavy chain 3,Disease-causing germline mutation(s) in,Assessed
65759,Carpenter syndrome,MEGF8,multiple EGF like domains 8,Disease-causing germline mutation(s) in,Assessed
65759,Carpenter syndrome,RAB23,"RAB23, member RAS oncogene family",Disease-causing germline mutation(s) (loss of function) in,Assessed
64748,Dejerine-Sottas syndrome,PMP22,peripheral myelin protein 22,Disease-causing germline mutation(s) in,Assessed
64748,Dejerine-Sottas syndrome,PRX,periaxin,Disease-causing germline mutation(s) (loss of function) in,Assessed
64748,Dejerine-Sottas syndrome,EGR2,early growth response 2,Disease-causing germline mutation(s) in,Assessed
64748,Dejerine-Sottas syndrome,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
64751,Hereditary motor and sensory neuropathy type 5,MFN2,mitofusin 2,Disease-causing germline mutation(s) in,Assessed
562509,Heme oxygenase-1 deficiency,HMOX1,heme oxygenase 1,Disease-causing germline mutation(s) in,Assessed
64752,Hereditary sensory and autonomic neuropathy type 5,NTRK1,neurotrophic receptor tyrosine kinase 1,Candidate gene tested in,Not yet assessed
64752,Hereditary sensory and autonomic neuropathy type 5,NGF,nerve growth factor,Disease-causing germline mutation(s) in,Assessed
64753,Spinocerebellar ataxia with axonal neuropathy type 2,SETX,senataxin,Disease-causing germline mutation(s) (loss of function) in,Assessed
64753,Spinocerebellar ataxia with axonal neuropathy type 2,PIK3R5,phosphoinositide-3-kinase regulatory subunit 5,Disease-causing germline mutation(s) in,Assessed
64754,Nevus comedonicus syndrome,NEK9,NIMA related kinase 9,Disease-causing somatic mutation(s) in,Assessed
562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,NALCN,"sodium leak channel, non-selective",Disease-causing germline mutation(s) in,Assessed
64755,Becker nevus syndrome,ACTB,actin beta,Disease-causing somatic mutation(s) in,Assessed
562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,SOBP,sine oculis binding protein homolog,Disease-causing germline mutation(s) in,Assessed
562538,Autosomal recessive extra-oral halitosis,SELENBP1,selenium binding protein 1,Disease-causing germline mutation(s) in,Assessed
562569,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,TMEM94,transmembrane protein 94,Disease-causing germline mutation(s) (loss of function) in,Assessed
64280,Childhood absence epilepsy,GABRA1,gamma-aminobutyric acid type A receptor subunit alpha1,Candidate gene tested in,Not yet assessed
64280,Childhood absence epilepsy,GABRG2,gamma-aminobutyric acid type A receptor subunit gamma2,Candidate gene tested in,Not yet assessed
64280,Childhood absence epilepsy,GABRB3,gamma-aminobutyric acid type A receptor subunit beta3,Major susceptibility factor in,Assessed
64280,Childhood absence epilepsy,CACNA1H,calcium voltage-gated channel subunit alpha1 H,Candidate gene tested in,Not yet assessed
64280,Childhood absence epilepsy,JRK,Jrk helix-turn-helix protein,Candidate gene tested in,Not yet assessed
64739,Ovarian hyperstimulation syndrome,FSHR,follicle stimulating hormone receptor,Major susceptibility factor in,Assessed
63269,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,POR,cytochrome p450 oxidoreductase,Disease-causing germline mutation(s) (loss of function) in,Assessed
63260,Craniorachischisis,DACT1,dishevelled binding antagonist of beta catenin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
63442,Angel-shaped phalango-epiphyseal dysplasia,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
63273,FLNC-related handgrip and calf weakness-distal myopathy,FLNC,filamin C,Disease-causing germline mutation(s) in,Assessed
63446,Acrocapitofemoral dysplasia,IHH,Indian hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
60033,Idiopathic bronchiectasis,CFTR,CF transmembrane conductance regulator,Candidate gene tested in,Not yet assessed
60033,Idiopathic bronchiectasis,SCNN1A,sodium channel epithelial 1 subunit alpha,Disease-causing germline mutation(s) in,Assessed
60033,Idiopathic bronchiectasis,SCNN1B,sodium channel epithelial 1 subunit beta,Disease-causing germline mutation(s) in,Assessed
60033,Idiopathic bronchiectasis,SCNN1G,sodium channel epithelial 1 subunit gamma,Disease-causing germline mutation(s) in,Assessed
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,CLDN1,claudin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
59306,McLeod neuroacanthocytosis syndrome,XK,"X-linked Kx blood group antigen, Kell and VPS13A binding protein",Disease-causing germline mutation(s) in,Assessed
60015,Enlarged parietal foramina,ALX4,ALX homeobox 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
60015,Enlarged parietal foramina,MSX2,msh homeobox 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
60025,Pulmonary alveolar microlithiasis,SLC34A2,solute carrier family 34 member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
564178,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,ATP1A1,ATPase Na+/K+ transporting subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
60030,Loeys-Dietz syndrome,TGFB2,transforming growth factor beta 2,Disease-causing germline mutation(s) in,Assessed
60030,Loeys-Dietz syndrome,TGFB3,transforming growth factor beta 3,Disease-causing germline mutation(s) in,Assessed
60030,Loeys-Dietz syndrome,SMAD2,SMAD family member 2,Disease-causing germline mutation(s) in,Assessed
60030,Loeys-Dietz syndrome,SMAD3,SMAD family member 3,Disease-causing germline mutation(s) in,Assessed
60030,Loeys-Dietz syndrome,IPO8,importin 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
60030,Loeys-Dietz syndrome,TGFBR1,transforming growth factor beta receptor 1,Disease-causing germline mutation(s) in,Assessed
60030,Loeys-Dietz syndrome,TGFBR2,transforming growth factor beta receptor 2,Disease-causing germline mutation(s) in,Assessed
563708,Syndromic congenital sodium diarrhea,SPINT2,"serine peptidase inhibitor, Kunitz type 2",Disease-causing germline mutation(s) (loss of function) in,Assessed
59181,Sorsby fundus dystrophy,TIMP3,TIMP metallopeptidase inhibitor 3,Disease-causing germline mutation(s) in,Assessed
59135,Laing distal myopathy,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
58017,Classic hairy cell leukemia,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
57782,Mazabraud syndrome,GNAS,GNAS complex locus,Candidate gene tested in,Not yet assessed
55595,TNP03-related limb-girdle muscular dystrophy D2,TNPO3,transportin 3,Disease-causing germline mutation(s) in,Assessed
55596,HNRNPDL-related limb-girdle muscular dystrophy D3,HNRNPDL,heterogeneous nuclear ribonucleoprotein D like,Disease-causing germline mutation(s) in,Assessed
54595,Craniopharyngioma,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
54595,Craniopharyngioma,CTNNB1,catenin beta 1,Disease-causing somatic mutation(s) in,Assessed
56304,Atelosteogenesis type II,SLC26A2,solute carrier family 26 member 2,Disease-causing germline mutation(s) in,Assessed
56305,Atelosteogenesis type III,FLNB,filamin B,Disease-causing germline mutation(s) in,Assessed
563612,Isolated exencephaly,VANGL2,VANGL planar cell polarity protein 2,Major susceptibility factor in,Assessed
563612,Isolated exencephaly,MTHFR,methylenetetrahydrofolate reductase,Major susceptibility factor in,Assessed
563609,Isolated anencephaly,VANGL2,VANGL planar cell polarity protein 2,Major susceptibility factor in,Assessed
563609,Isolated anencephaly,MTHFR,methylenetetrahydrofolate reductase,Major susceptibility factor in,Assessed
55880,Chondrosarcoma,EXT1,exostosin glycosyltransferase 1,Candidate gene tested in,Not yet assessed
55654,Hypotrichosis simplex,LSS,lanosterol synthase,Disease-causing germline mutation(s) in,Assessed
55654,Hypotrichosis simplex,LIPH,lipase H,Disease-causing germline mutation(s) in,Assessed
55654,Hypotrichosis simplex,APCDD1,APC down-regulated 1,Disease-causing germline mutation(s) in,Assessed
55654,Hypotrichosis simplex,RPL21,ribosomal protein L21,Disease-causing germline mutation(s) in,Assessed
55654,Hypotrichosis simplex,SNRPE,small nuclear ribonucleoprotein polypeptide E,Disease-causing germline mutation(s) in,Assessed
55654,Hypotrichosis simplex,LPAR6,lysophosphatidic acid receptor 6,Disease-causing germline mutation(s) in,Assessed
55654,Hypotrichosis simplex,DSG4,desmoglein 4,Disease-causing germline mutation(s) in,Assessed
565837,Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,LAMA2,laminin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,PPP3CA,protein phosphatase 3 catalytic subunit alpha,Disease-causing germline mutation(s) in,Assessed
565788,Infantile inflammatory bowel disease with neurological involvement,TGFB1,transforming growth factor beta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
565909,Calpain-3-related limb-girdle muscular dystrophy D4,CAPN3,calpain 3,Disease-causing germline mutation(s) in,Assessed
79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,HPRT1,hypoxanthine phosphoribosyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
79230,HJV or HAMP-related hemochromatosis,HJV,hemojuvelin BMP co-receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
79230,HJV or HAMP-related hemochromatosis,HAMP,hepcidin antimicrobial peptide,Disease-causing germline mutation(s) (loss of function) in,Assessed
79237,Galactokinase deficiency,GALK1,galactokinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,CEBPE,CCAAT enhancer binding protein epsilon,Disease-causing germline mutation(s) (gain of function) in,Assessed
79234,Crigler-Najjar syndrome type 1,UGT1A1,UDP glucuronosyltransferase family 1 member A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
79235,Crigler-Najjar syndrome type 2,UGT1A1,UDP glucuronosyltransferase family 1 member A1,Disease-causing germline mutation(s) (loss of function) in,Assessed
565624,Combined oxidative phosphorylation defect type 39,GFM2,GTP dependent ribosome recycling factor mitochondrial 2,Disease-causing germline mutation(s) in,Assessed
565612,Primary triglyceride deposit cardiomyovasculopathy,PNPLA2,"patatin like domain 2, triacylglycerol lipase",Disease-causing germline mutation(s) in,Assessed
79157,2-methylbutyryl-CoA dehydrogenase deficiency,ACADSB,acyl-CoA dehydrogenase short/branched chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
79155,Hydroxykynureninuria,KYNU,kynureninase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79154,2-aminoadipic 2-oxoadipic aciduria,DHTKD1,dehydrogenase E1 and transketolase domain containing 1,Disease-causing germline mutation(s) in,Assessed
79152,Disseminated superficial actinic porokeratosis,MVK,mevalonate kinase,Disease-causing germline mutation(s) in,Assessed
79152,Disseminated superficial actinic porokeratosis,SLC17A9,solute carrier family 17 member 9,Disease-causing germline mutation(s) in,Assessed
79152,Disseminated superficial actinic porokeratosis,MVD,mevalonate diphosphate decarboxylase,Disease-causing germline mutation(s) in,Assessed
79152,Disseminated superficial actinic porokeratosis,FDPS,farnesyl diphosphate synthase,Disease-causing germline mutation(s) in,Assessed
79151,Acrokeratosis verruciformis of Hopf,ATP2A2,ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
79146,Familial progressive hyperpigmentation,KITLG,KIT ligand,Disease-causing germline mutation(s) (gain of function) in,Assessed
79145,Dowling-Degos disease,PSENEN,"presenilin enhancer, gamma-secretase subunit",Disease-causing germline mutation(s) in,Assessed
79145,Dowling-Degos disease,KRT5,keratin 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
79145,Dowling-Degos disease,POFUT1,protein O-fucosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
79145,Dowling-Degos disease,POGLUT1,protein O-glucosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
79159,Isobutyryl-CoA dehydrogenase deficiency,ACAD8,acyl-CoA dehydrogenase family member 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
79107,Developmental malformations-deafness-dystonia syndrome,ACTB,actin beta,Disease-causing germline mutation(s) in,Assessed
566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,THRA,thyroid hormone receptor alpha,Disease-causing germline mutation(s) in,Assessed
79106,Eiken syndrome,PTH1R,parathyroid hormone 1 receptor,Disease-causing germline mutation(s) in,Assessed
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,THRB,thyroid hormone receptor beta,Disease-causing germline mutation(s) in,Assessed
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,GLIS3,GLIS family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
566393,Acute mast cell leukemia,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
79113,Mandibulofacial dysostosis-microcephaly syndrome,EFTUD2,elongation factor Tu GTP binding domain containing 2,Disease-causing germline mutation(s) in,Assessed
79102,Thyrotoxic periodic paralysis,CACNA1S,calcium voltage-gated channel subunit alpha1 S,Candidate gene tested in,Not yet assessed
79102,Thyrotoxic periodic paralysis,GABRA3,gamma-aminobutyric acid type A receptor subunit alpha3,Major susceptibility factor in,Assessed
79102,Thyrotoxic periodic paralysis,KCNJ18,potassium inwardly rectifying channel subfamily J member 18,Major susceptibility factor in,Assessed
79105,Myxofibrosarcoma,FUS,FUS RNA binding protein,Part of a fusion gene in,Assessed
79105,Myxofibrosarcoma,CREB3L2,cAMP responsive element binding protein 3 like 2,Part of a fusion gene in,Assessed
79105,Myxofibrosarcoma,CREB3L1,cAMP responsive element binding protein 3 like 1,Part of a fusion gene in,Assessed
79101,Hyperprolinemia type 2,ALDH4A1,aldehyde dehydrogenase 4 family member A1,Disease-causing germline mutation(s) in,Assessed
566192,Congenital autosomal recessive small-platelet thrombocytopenia,FYB1,FYN binding protein 1,Disease-causing germline mutation(s) in,Assessed
79100,Atrophoderma vermiculata,LRP1,LDL receptor related protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
79095,Congenital bile acid synthesis defect type 4,AMACR,alpha-methylacyl-CoA racemase,Disease-causing germline mutation(s) in,Assessed
79094,Grange syndrome,YY1AP1,YY1 associated protein 1,Disease-causing germline mutation(s) in,Assessed
566175,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,CD55,CD55 molecule (Cromer blood group),Disease-causing germline mutation(s) in,Assessed
79096,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,PNPO,pyridoxamine 5'-phosphate oxidase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79134,DEND syndrome,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
79134,DEND syndrome,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
79134,DEND syndrome,NARS2,"asparaginyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,KCNMA1,potassium calcium-activated channel subfamily M alpha 1,Disease-causing germline mutation(s) in,Assessed
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,SP110,SP110 nuclear body protein,Disease-causing germline mutation(s) in,Assessed
566396,Chronic mast cell leukemia,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
77293,Chronic visceral acid sphingomyelinase deficiency,SMPD1,sphingomyelin phosphodiesterase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
77295,Odontoleukodystrophy,POLR3A,RNA polymerase III subunit A,Disease-causing germline mutation(s) in,Assessed
77261,Gaucher disease type 3,GBA1,glucosylceramidase beta 1,Disease-causing germline mutation(s) in,Assessed
77292,Infantile neurovisceral acid sphingomyelinase deficiency,SMPD1,sphingomyelin phosphodiesterase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,SOX2,SRY-box transcription factor 2,Disease-causing germline mutation(s) in,Assessed
77297,Majeed syndrome,LPIN2,lipin 2,Disease-causing germline mutation(s) in,Assessed
567502,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,TOP2B,DNA topoisomerase II beta,Disease-causing germline mutation(s) in,Assessed
77301,Monosomy 9q22.3 syndrome,PTCH1,patched 1,Role in the phenotype of,Assessed
79083,PPARG-related familial partial lipodystrophy,PPARG,peroxisome proliferator activated receptor gamma,Disease-causing germline mutation(s) in,Assessed
79076,Juvenile polyposis of infancy,PTEN,phosphatase and tensin homolog,Role in the phenotype of,Assessed
79076,Juvenile polyposis of infancy,BMPR1A,bone morphogenetic protein receptor type 1A,Role in the phenotype of,Assessed
79087,Acquired partial lipodystrophy,LMNB2,lamin B2,Major susceptibility factor in,Assessed
79085,AKT2-related familial partial lipodystrophy,AKT2,AKT serine/threonine kinase 2,Disease-causing germline mutation(s) in,Assessed
79084,"Familial partial lipodystrophy, Köbberling type",LMNA,lamin A/C,Candidate gene tested in,Not yet assessed
79091,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,MYH2,myosin heavy chain 2,Disease-causing germline mutation(s) in,Assessed
75327,North Carolina macular dystrophy,DHS6S1,"DNase1 hypersensitivity, chromosome 6, site 1",Disease-causing germline mutation(s) in,Assessed
75373,Progressive bifocal chorioretinal atrophy,DHS6S1,"DNase1 hypersensitivity, chromosome 6, site 1",Disease-causing germline mutation(s) in,Assessed
75374,Bradyopsia,RGS9BP,regulator of G protein signaling 9 binding protein,Disease-causing germline mutation(s) in,Assessed
75374,Bradyopsia,RGS9,regulator of G protein signaling 9,Disease-causing germline mutation(s) in,Assessed
75376,Familial drusen,CFI,complement factor I,Disease-causing germline mutation(s) in,Assessed
75376,Familial drusen,CFH,complement factor H,Disease-causing germline mutation(s) in,Assessed
75376,Familial drusen,EFEMP1,EGF-like fibulin extracellular matrix protein 1,Disease-causing germline mutation(s) in,Assessed
75377,Central areolar choroidal dystrophy,GUCA1A,guanylate cyclase activator 1A,Disease-causing germline mutation(s) (gain of function) in,Assessed
75377,Central areolar choroidal dystrophy,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
75377,Central areolar choroidal dystrophy,GUCY2D,"guanylate cyclase 2D, retinal",Disease-causing germline mutation(s) in,Assessed
75382,Oguchi disease,SAG,S-antigen visual arrestin,Disease-causing germline mutation(s) (loss of function) in,Assessed
75382,Oguchi disease,GRK1,G protein-coupled receptor kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,MCM4,minichromosome maintenance complex component 4,Disease-causing germline mutation(s) in,Assessed
75392,Periodontal Ehlers-Danlos syndrome,C1S,complement C1s,Disease-causing germline mutation(s) (gain of function) in,Assessed
75392,Periodontal Ehlers-Danlos syndrome,C1R,complement C1r,Disease-causing germline mutation(s) (gain of function) in,Assessed
75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,B4GALT7,"beta-1,4-galactosyltransferase 7",Disease-causing germline mutation(s) in,Assessed
75497,X-linked Ehlers-Danlos syndrome,FLNA,filamin A,Disease-causing germline mutation(s) (loss of function) in,Assessed
75563,X-linked sideroblastic anemia,ALAS2,5'-aminolevulinate synthase 2,Disease-causing germline mutation(s) in,Assessed
75564,Acquired idiopathic sideroblastic anemia,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
75564,Acquired idiopathic sideroblastic anemia,SF3B1,splicing factor 3b subunit 1,Disease-causing somatic mutation(s) in,Assessed
75857,6q terminal deletion syndrome,ERMARD,ER membrane associated RNA degradation,Role in the phenotype of,Assessed
75840,Ullrich congenital muscular dystrophy,COL6A1,collagen type VI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
75840,Ullrich congenital muscular dystrophy,COL6A2,collagen type VI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
75840,Ullrich congenital muscular dystrophy,COL6A3,collagen type VI alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
75840,Ullrich congenital muscular dystrophy,COL12A1,collagen type XII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
75858,MORM syndrome,INPP5E,inositol polyphosphate-5-phosphatase E,Disease-causing germline mutation(s) in,Assessed
77258,Trichorhinophalangeal syndrome type 1,TRPS1,transcriptional repressor GATA binding 1,Disease-causing germline mutation(s) in,Assessed
77260,Gaucher disease type 2,GBA1,glucosylceramidase beta 1,Disease-causing germline mutation(s) in,Assessed
77259,Gaucher disease type 1,GBA1,glucosylceramidase beta 1,Disease-causing germline mutation(s) in,Assessed
77259,Gaucher disease type 1,SCARB2,scavenger receptor class B member 2,Modifying germline mutation in,Assessed
569821,Congenital primary lymphedema of Gordon,VEGFC,vascular endothelial growth factor C,Disease-causing germline mutation(s) in,Assessed
569816,CELSR1-related late-onset primary lymphedema,CELSR1,cadherin EGF LAG seven-pass G-type receptor 1,Disease-causing germline mutation(s) in,Assessed
73272,Growth delay due to insulin-like growth factor type 1 deficiency,IGF1,insulin like growth factor 1,Disease-causing germline mutation(s) in,Assessed
73273,Growth delay due to insulin-like growth factor I resistance,IGF1R,insulin like growth factor 1 receptor,Disease-causing germline mutation(s) in,Assessed
75326,Familial isolated retinal arteriolar tortuosity,COL4A1,collagen type IV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
75249,Familial isolated restrictive cardiomyopathy,FLNC,filamin C,Disease-causing germline mutation(s) in,Assessed
75249,Familial isolated restrictive cardiomyopathy,KIF20A,kinesin family member 20A,Disease-causing germline mutation(s) (loss of function) in,Assessed
75249,Familial isolated restrictive cardiomyopathy,TNNI3,"troponin I3, cardiac type",Disease-causing germline mutation(s) in,Assessed
75249,Familial isolated restrictive cardiomyopathy,TNNT2,"troponin T2, cardiac type",Disease-causing germline mutation(s) in,Assessed
75249,Familial isolated restrictive cardiomyopathy,MYPN,myopalladin,Disease-causing germline mutation(s) in,Assessed
75234,Cholesteryl ester storage disease,LIPA,"lipase A, lysosomal acid type",Disease-causing germline mutation(s) (loss of function) in,Assessed
75233,Wolman disease,LIPA,"lipase A, lysosomal acid type",Disease-causing germline mutation(s) (loss of function) in,Assessed
568065,EPHB4-related lymphatic-related hydrops fetalis,EPHB4,EPH receptor B4,Disease-causing germline mutation(s) in,Assessed
71290,Familial platelet disorder with associated myeloid malignancy,RUNX1,RUNX family transcription factor 1,Disease-causing germline mutation(s) in,Assessed
568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,PIEZO1,piezo type mechanosensitive ion channel component 1 (Er blood group),Disease-causing germline mutation(s) in,Assessed
71493,Familial thrombocytosis,THPO,thrombopoietin,Disease-causing germline mutation(s) (gain of function) in,Assessed
71493,Familial thrombocytosis,JAK2,Janus kinase 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
71493,Familial thrombocytosis,MPL,"MPL proto-oncogene, thrombopoietin receptor",Disease-causing germline mutation(s) in,Assessed
568051,GJC2-related late-onset primary lymphedema,GJC2,gap junction protein gamma 2,Disease-causing germline mutation(s) in,Assessed
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,MECOM,MDS1 and EVI1 complex locus,Disease-causing germline mutation(s) in,Assessed
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,HOXA11,homeobox A11,Disease-causing germline mutation(s) in,Assessed
71526,Obesity due to pro-opiomelanocortin deficiency,POMC,proopiomelanocortin,Disease-causing germline mutation(s) in,Assessed
71528,Obesity due to prohormone convertase I deficiency,PCSK1,proprotein convertase subtilisin/kexin type 1,Disease-causing germline mutation(s) in,Assessed
71529,Obesity due to melanocortin 4 receptor deficiency,MC4R,melanocortin 4 receptor,Disease-causing germline mutation(s) in,Assessed
569164,Angiomatoid fibrous histiocytoma,CREB1,cAMP responsive element binding protein 1,Part of a fusion gene in,Assessed
569164,Angiomatoid fibrous histiocytoma,EWSR1,EWS RNA binding protein 1,Part of a fusion gene in,Assessed
71517,Rapid-onset dystonia-parkinsonism,ATP1A3,ATPase Na+/K+ transporting subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
71518,Benign paroxysmal torticollis of infancy,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) in,Assessed
569274,Multiple mitochondrial dysfunctions syndrome type 5,ISCA1,iron-sulfur cluster assembly 1,Disease-causing germline mutation(s) in,Assessed
569290,Multiple mitochondrial dysfunctions syndrome type 6,PMPCB,"peptidase, mitochondrial processing subunit beta",Disease-causing germline mutation(s) in,Assessed
569248,Microcystic stromal tumor,CTNNB1,catenin beta 1,Candidate gene tested in,Not yet assessed
73229,HANAC syndrome,COL4A1,collagen type IV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
73224,Kidney tubulopathy-dilated cardiomyopathy syndrome,RRAGD,Ras related GTP binding D,Disease-causing germline mutation(s) in,Assessed
530849,Familial apolipoprotein A5 deficiency,APOA5,apolipoprotein A5,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,ADA,adenosine deaminase,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,RAG1,recombination activating 1,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,RAG2,recombination activating 2,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,CHD7,chromodomain helicase DNA binding protein 7,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,DCLRE1C,DNA cross-link repair 1C,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,IL2RG,interleukin 2 receptor subunit gamma,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,LIG4,DNA ligase 4,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,RMRP,RNA component of mitochondrial RNA processing endoribonuclease,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,IL7R,interleukin 7 receptor,Disease-causing germline mutation(s) in,Assessed
39041,Omenn syndrome,PSMB10,proteasome 20S subunit beta 10,Disease-causing germline mutation(s) in,Assessed
530838,KRT1-related diffuse nonepidermolytic keratoderma,KRT1,keratin 1,Disease-causing germline mutation(s) in,Assessed
39044,Uveal melanoma,CYSLTR2,cysteinyl leukotriene receptor 2,Disease-causing somatic mutation(s) in,Assessed
39044,Uveal melanoma,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing germline mutation(s) in,Assessed
39044,Uveal melanoma,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing somatic mutation(s) in,Assessed
39044,Uveal melanoma,GNAQ,G protein subunit alpha q,Disease-causing somatic mutation(s) in,Assessed
39044,Uveal melanoma,GNA11,G protein subunit alpha 11,Disease-causing somatic mutation(s) in,Assessed
39044,Uveal melanoma,SF3B1,splicing factor 3b subunit 1,Biomarker tested in,Assessed
530792,RELA fusion-positive ependymoma,ZFTA,zinc finger translocation associated,Part of a fusion gene in,Assessed
530792,RELA fusion-positive ependymoma,RELA,"RELA proto-oncogene, NF-kB subunit",Part of a fusion gene in,Assessed
38874,Dihydropyrimidinuria,DPYS,dihydropyrimidinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
530303,Progressive dementia with neuroserpin inclusion bodies,SERPINI1,serpin family I member 1,Disease-causing germline mutation(s) in,Assessed
37612,Episodic ataxia type 1,KCNA1,potassium voltage-gated channel subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
37553,Andersen-Tawil syndrome,KCNJ2,potassium inwardly rectifying channel subfamily J member 2,Disease-causing germline mutation(s) in,Assessed
37553,Andersen-Tawil syndrome,KCNJ5,potassium inwardly rectifying channel subfamily J member 5,Disease-causing germline mutation(s) in,Assessed
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,FOXP3,forkhead box P3,Disease-causing germline mutation(s) in,Assessed
36899,Myoclonus-dystonia syndrome,SGCE,sarcoglycan epsilon,Disease-causing germline mutation(s) in,Assessed
36899,Myoclonus-dystonia syndrome,TOR1A,torsin family 1 member A,Candidate gene tested in,Not yet assessed
36899,Myoclonus-dystonia syndrome,DRD2,dopamine receptor D2,Candidate gene tested in,Not yet assessed
36899,Myoclonus-dystonia syndrome,DYT15,"dystonia 15, myoclonic",Role in the phenotype of,Assessed
36899,Myoclonus-dystonia syndrome,KCTD17,potassium channel tetramerization domain containing 17,Disease-causing germline mutation(s) in,Assessed
41751,Bietti crystalline dystrophy,CYP4V2,cytochrome P450 family 4 subfamily V member 2,Disease-causing germline mutation(s) in,Assessed
42062,Iminoglycinuria,SLC6A20,solute carrier family 6 member 20,Candidate gene tested in,Not yet assessed
42062,Iminoglycinuria,SLC36A2,solute carrier family 36 member 2,Disease-causing germline mutation(s) in,Assessed
42062,Iminoglycinuria,SLC6A18,solute carrier family 6 member 18,Candidate gene tested in,Not yet assessed
42062,Iminoglycinuria,SLC6A19,solute carrier family 6 member 19,Candidate gene tested in,Not yet assessed
35706,Glutaric acidemia type 3,SUGCT,succinyl-CoA:glutarate-CoA transferase,Disease-causing germline mutation(s) in,Assessed
35704,L-Arginine:glycine amidinotransferase deficiency,GATM,glycine amidinotransferase,Disease-causing germline mutation(s) in,Assessed
35710,Glucose-galactose malabsorption,SLC5A1,solute carrier family 5 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
35737,Morning glory disc anomaly,PAX6,paired box 6,Candidate gene tested in,Not yet assessed
35708,Aromatic L-amino acid decarboxylase deficiency,DDC,dopa decarboxylase,Disease-causing germline mutation(s) in,Assessed
35689,Primary lateral sclerosis,SPG7,"SPG7 matrix AAA peptidase subunit, paraplegin",Disease-causing germline mutation(s) in,Assessed
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,HMGCS2,3-hydroxy-3-methylglutaryl-CoA synthase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
35612,Nanophthalmos,MFRP,membrane frizzled-related protein,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,TMEM98,transmembrane protein 98,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,OTX2,orthodenticle homeobox 2,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,SIX6,SIX homeobox 6,Candidate gene tested in,Not yet assessed
35612,Nanophthalmos,RAX,retina and anterior neural fold homeobox,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,ALDH1A3,aldehyde dehydrogenase 1 family member A3,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,PRSS56,serine protease 56,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,SOX2,SRY-box transcription factor 2,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
35612,Nanophthalmos,CRB1,crumbs cell polarity complex component 1,Disease-causing germline mutation(s) in,Assessed
35173,X-linked dominant chondrodysplasia punctata,EBP,EBP cholestenol delta-isomerase,Disease-causing germline mutation(s) (loss of function) in,Assessed
35664,ALDH18A1-related De Barsy syndrome,ALDH18A1,aldehyde dehydrogenase 18 family member A1,Disease-causing germline mutation(s) in,Assessed
35120,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,NT5C3A,"5'-nucleotidase, cytosolic IIIA",Disease-causing germline mutation(s) in,Assessed
35107,Desmosterolosis,DHCR24,24-dehydrocholesterol reductase,Disease-causing germline mutation(s) in,Assessed
35099,Non-syndromic bicoronal craniosynostosis,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
35099,Non-syndromic bicoronal craniosynostosis,ZIC1,Zic family zinc finger 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
35099,Non-syndromic bicoronal craniosynostosis,TCF12,transcription factor 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
35099,Non-syndromic bicoronal craniosynostosis,TWIST1,twist family bHLH transcription factor 1,Disease-causing germline mutation(s) in,Assessed
35122,Congenital sucrase-isomaltase deficiency,SI,sucrase-isomaltase,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,HCN1,hyperpolarization activated cyclic nucleotide gated potassium channel 1,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,SLC32A1,solute carrier family 32 member 1,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,FGF13,fibroblast growth factor 13,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,SCN1B,sodium voltage-gated channel beta subunit 1,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,SCN2A,sodium voltage-gated channel alpha subunit 2,Candidate gene tested in,Not yet assessed
36387,Genetic epilepsy with febrile seizure plus,SCN9A,sodium voltage-gated channel alpha subunit 9,Candidate gene tested in,Not yet assessed
36387,Genetic epilepsy with febrile seizure plus,GABRD,gamma-aminobutyric acid type A receptor subunit delta,Candidate gene tested in,Not yet assessed
36387,Genetic epilepsy with febrile seizure plus,GABRG2,gamma-aminobutyric acid type A receptor subunit gamma2,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,STX1B,syntaxin 1B,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,CPA6,carboxypeptidase A6,Disease-causing germline mutation(s) (loss of function) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,PRRT2,proline rich transmembrane protein 2,Disease-causing germline mutation(s) in,Assessed
36387,Genetic epilepsy with febrile seizure plus,ADGRV1,adhesion G protein-coupled receptor V1,Candidate gene tested in,Not yet assessed
36412,Hypocomplementemic urticarial vasculitis,DNASE1L3,deoxyribonuclease 1L3,Disease-causing germline mutation(s) (loss of function) in,Assessed
36426,Stevens-Johnson syndrome,HLA-B,"major histocompatibility complex, class I, B",Major susceptibility factor in,Not yet assessed
36426,Stevens-Johnson syndrome,IKZF1,IKAROS family zinc finger 1,Major susceptibility factor in,Assessed
36355,Bleeding disorder due to P2Y12 defect,P2RY12,purinergic receptor P2Y12,Disease-causing germline mutation(s) in,Assessed
36367,Distal deletion 1q syndrome,ZBTB18,zinc finger and BTB domain containing 18,Role in the phenotype of,Assessed
36383,COL4A1/2-related familial vascular leukoencephalopathy,COL4A1,collagen type IV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
36383,COL4A1/2-related familial vascular leukoencephalopathy,COL4A2,collagen type IV alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
36386,Hereditary sensory and autonomic neuropathy type 1,ATL1,atlastin GTPase 1,Disease-causing germline mutation(s) in,Assessed
36386,Hereditary sensory and autonomic neuropathy type 1,SPTLC1,serine palmitoyltransferase long chain base subunit 1,Disease-causing germline mutation(s) in,Assessed
36386,Hereditary sensory and autonomic neuropathy type 1,SPTLC2,serine palmitoyltransferase long chain base subunit 2,Disease-causing germline mutation(s) in,Assessed
36386,Hereditary sensory and autonomic neuropathy type 1,ATL3,atlastin GTPase 3,Disease-causing germline mutation(s) in,Assessed
35878,Hyperinsulinism-hyperammonemia syndrome,GLUD1,glutamate dehydrogenase 1,Disease-causing germline mutation(s) in,Assessed
35858,Imerslund-Gräsbeck syndrome,AMN,amnion associated transmembrane protein,Disease-causing germline mutation(s) in,Assessed
35858,Imerslund-Gräsbeck syndrome,CUBN,cubilin,Disease-causing germline mutation(s) in,Assessed
35909,Combined deficiency of factor V and factor VIII,MCFD2,"multiple coagulation factor deficiency 2, ER cargo receptor complex subunit",Disease-causing germline mutation(s) in,Assessed
35909,Combined deficiency of factor V and factor VIII,LMAN1,"lectin, mannose binding 1",Disease-causing germline mutation(s) (loss of function) in,Assessed
33572,5-oxoprolinase deficiency,OPLAH,"5-oxoprolinase, ATP-hydrolysing",Disease-causing germline mutation(s) in,Assessed
33543,Kleine-Levin syndrome,TRANK1,tetratricopeptide repeat and ankyrin repeat containing 1,Major susceptibility factor in,Assessed
33445,Neuroectodermal melanolysosomal disease,MYO5A,myosin VA,Disease-causing germline mutation(s) in,Assessed
535458,Familial GPIHBP1 deficiency,GPIHBP1,glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1,Disease-causing germline mutation(s) in,Assessed
33402,Pediatric hepatocellular carcinoma,MET,"MET proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
33402,Pediatric hepatocellular carcinoma,CTNNB1,catenin beta 1,Candidate gene tested in,Not yet assessed
34217,Naxos disease,JUP,junction plakoglobin,Disease-causing germline mutation(s) in,Assessed
33574,Glutamate-cysteine ligase deficiency,GCLC,glutamate-cysteine ligase catalytic subunit,Disease-causing germline mutation(s) in,Assessed
33573,Gamma-glutamyl transpeptidase deficiency,GGT1,gamma-glutamyltransferase 1,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,SPI1,Spi-1 proto-oncogene,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,PIK3CD,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,IGHM,immunoglobulin heavy constant mu,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,IGLL1,immunoglobulin lambda like polypeptide 1,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,LRRC8A,leucine rich repeat containing 8 VRAC subunit A,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,TCF3,transcription factor 3,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,CD79A,CD79a molecule,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,CD79B,CD79b molecule,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,BLNK,B cell linker,Disease-causing germline mutation(s) in,Assessed
33110,Autosomal non-syndromic agammaglobulinemia,PIK3R1,phosphoinositide-3-kinase regulatory subunit 1,Disease-causing germline mutation(s) in,Assessed
33108,Lethal multiple pterygium syndrome,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
33108,Lethal multiple pterygium syndrome,RAPSN,receptor associated protein of the synapse,Candidate gene tested in,Not yet assessed
33108,Lethal multiple pterygium syndrome,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
33108,Lethal multiple pterygium syndrome,CHRNA1,cholinergic receptor nicotinic alpha 1 subunit,Disease-causing germline mutation(s) in,Assessed
33108,Lethal multiple pterygium syndrome,CHRND,cholinergic receptor nicotinic delta subunit,Disease-causing germline mutation(s) in,Assessed
33108,Lethal multiple pterygium syndrome,CHRNG,cholinergic receptor nicotinic gamma subunit,Disease-causing germline mutation(s) in,Assessed
33067,"Metaphyseal chondrodysplasia, Jansen type",PTH1R,parathyroid hormone 1 receptor,Disease-causing germline mutation(s) (gain of function) in,Assessed
33069,Dravet syndrome,SCN1A,sodium voltage-gated channel alpha subunit 1,Disease-causing germline mutation(s) in,Assessed
33069,Dravet syndrome,SCN1B,sodium voltage-gated channel beta subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
33069,Dravet syndrome,SCN9A,sodium voltage-gated channel alpha subunit 9,Candidate gene tested in,Not yet assessed
33069,Dravet syndrome,GABRA1,gamma-aminobutyric acid type A receptor subunit alpha1,Disease-causing germline mutation(s) in,Assessed
33069,Dravet syndrome,GABRG2,gamma-aminobutyric acid type A receptor subunit gamma2,Disease-causing germline mutation(s) in,Assessed
33069,Dravet syndrome,PCDH19,protocadherin 19,Disease-causing germline mutation(s) in,Assessed
33069,Dravet syndrome,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) in,Assessed
33001,Lymphedema-distichiasis syndrome,FOXC2,forkhead box C2,Disease-causing germline mutation(s) in,Assessed
33355,Reticular dysgenesis,AK2,adenylate kinase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
535453,Familial lipase maturation factor 1 deficiency,LMF1,lipase maturation factor 1,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,MPLKIP,M-phase specific PLK1 interacting protein,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,ERCC2,"ERCC excision repair 2, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,GTF2H5,general transcription factor IIH subunit 5,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,ERCC3,"ERCC excision repair 3, TFIIH core complex helicase subunit",Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,RNF113A,ring finger protein 113A,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,GTF2E2,general transcription factor IIE subunit 2,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,TARS1,threonyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,CARS1,cysteinyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
33364,Trichothiodystrophy,AARS1,alanyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
33226,Waldenström macroglobulinemia,MYD88,MYD88 innate immune signal transduction adaptor,Disease-causing somatic mutation(s) in,Assessed
35069,Infantile neuroaxonal dystrophy,PLA2G6,phospholipase A2 group VI,Disease-causing germline mutation(s) in,Assessed
35093,Non-syndromic sagittal craniosynostosis,ALX4,ALX homeobox 4,Major susceptibility factor in,Assessed
35093,Non-syndromic sagittal craniosynostosis,TWIST1,twist family bHLH transcription factor 1,Disease-causing germline mutation(s) in,Assessed
35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,JAK3,Janus kinase 3,Disease-causing germline mutation(s) in,Assessed
34520,Congenital muscular dystrophy with integrin alpha-7 deficiency,ITGA7,integrin subunit alpha 7,Disease-causing germline mutation(s) in,Assessed
34514,Telethonin-related limb-girdle muscular dystrophy R7,TCAP,titin-cap,Disease-causing germline mutation(s) in,Assessed
34515,FKRP-related limb-girdle muscular dystrophy R9,FKRP,fukutin related protein,Disease-causing germline mutation(s) in,Assessed
34516,DNAJB6-related limb-girdle muscular dystrophy D1,DNAJB6,DnaJ heat shock protein family (Hsp40) member B6,Disease-causing germline mutation(s) in,Assessed
34587,Danon disease,LAMP2,lysosomal associated membrane protein 2,Disease-causing germline mutation(s) in,Assessed
34592,Immunodeficiency by defective expression of MHC class I,TAP2,"transporter 2, ATP binding cassette subfamily B member",Disease-causing germline mutation(s) in,Assessed
34592,Immunodeficiency by defective expression of MHC class I,TAP1,"transporter 1, ATP binding cassette subfamily B member",Disease-causing germline mutation(s) in,Assessed
34592,Immunodeficiency by defective expression of MHC class I,TAPBP,TAP binding protein,Disease-causing germline mutation(s) in,Assessed
34592,Immunodeficiency by defective expression of MHC class I,B2M,beta-2-microglobulin,Disease-causing germline mutation(s) (loss of function) in,Assessed
34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,FXYD2,FXYD domain containing ion transport regulator 2,Disease-causing germline mutation(s) in,Assessed
536516,Myopathic Ehlers-Danlos syndrome,COL12A1,collagen type XII alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,B3GALT6,"beta-1,3-galactosyltransferase 6",Disease-causing germline mutation(s) (loss of function) in,Assessed
536532,Classical-like Ehlers-Danlos syndrome type 2,AEBP1,AE binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
537072,PLG-related hereditary angioedema with normal C1Inh,PLG,plasminogen,Disease-causing germline mutation(s) in,Assessed
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,TNFRSF1A,TNF receptor superfamily member 1A,Disease-causing germline mutation(s) in,Assessed
52530,Pseudo-von Willebrand disease,GP1BA,glycoprotein Ib platelet subunit alpha,Disease-causing germline mutation(s) in,Assessed
52688,Myelodysplastic syndrome,TP53,tumor protein p53,Major susceptibility factor in,Assessed
52429,Branchiootic syndrome,EYA1,EYA transcriptional coactivator and phosphatase 1,Disease-causing germline mutation(s) in,Assessed
52429,Branchiootic syndrome,SIX1,SIX homeobox 1,Disease-causing germline mutation(s) in,Assessed
52503,X-linked creatine transporter deficiency,SLC6A8,solute carrier family 6 member 8,Disease-causing germline mutation(s) in,Assessed
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,VCP,valosin containing protein,Disease-causing germline mutation(s) in,Assessed
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,HNRNPA2B1,heterogeneous nuclear ribonucleoprotein A2/B1,Disease-causing germline mutation(s) in,Assessed
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,HNRNPA1,heterogeneous nuclear ribonucleoprotein A1,Disease-causing germline mutation(s) in,Assessed
52416,Mantle cell lymphoma,CCND1,cyclin D1,Disease-causing somatic mutation(s) in,Assessed
52416,Mantle cell lymphoma,ATM,ATM serine/threonine kinase,Disease-causing somatic mutation(s) in,Assessed
52416,Mantle cell lymphoma,IGH,immunoglobulin heavy locus,Disease-causing somatic mutation(s) in,Assessed
52427,Retinitis punctata albescens,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
52427,Retinitis punctata albescens,RDH5,retinol dehydrogenase 5,Candidate gene tested in,Not yet assessed
52427,Retinitis punctata albescens,RHO,rhodopsin,Candidate gene tested in,Not yet assessed
52427,Retinitis punctata albescens,RLBP1,retinaldehyde binding protein 1,Disease-causing germline mutation(s) in,Assessed
52417,MALT lymphoma,MALT1,MALT1 paracaspase,Part of a fusion gene in,Assessed
52417,MALT lymphoma,BIRC3,baculoviral IAP repeat containing 3,Part of a fusion gene in,Assessed
52417,MALT lymphoma,IGH,immunoglobulin heavy locus,Part of a fusion gene in,Assessed
52417,MALT lymphoma,FOXP1,forkhead box P1,Part of a fusion gene in,Assessed
52417,MALT lymphoma,BCL10,BCL10 immune signaling adaptor,Part of a fusion gene in,Assessed
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,IGBP1,immunoglobulin binding protein 1,Disease-causing germline mutation(s) in,Assessed
52368,Mohr-Tranebjaerg syndrome,TIMM8A,translocase of inner mitochondrial membrane 8A,Disease-causing germline mutation(s) (loss of function) in,Assessed
53271,Muenke syndrome,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
53347,Brody myopathy,ATP2A1,ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
53035,Caroli disease,PKHD1,PKHD1 ciliary IPT domain containing fibrocystin/polyductin,Disease-causing germline mutation(s) in,Assessed
52901,Isolated follicle stimulating hormone deficiency,FSHB,follicle stimulating hormone subunit beta,Disease-causing germline mutation(s) (loss of function) in,Assessed
53690,Congenital lactase deficiency,LCT,lactase,Disease-causing germline mutation(s) in,Assessed
53689,Congenital chloride diarrhea,SLC26A3,solute carrier family 26 member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
538863,Classic pyoderma gangrenosum,PTPN6,protein tyrosine phosphatase non-receptor type 6,Disease-causing germline mutation(s) in,Assessed
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,KRT1,keratin 1,Modifying germline mutation in,Assessed
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,MPZ,myelin protein zero,Modifying germline mutation in,Assessed
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) in,Assessed
53540,Goldmann-Favre syndrome,NR2E3,nuclear receptor subfamily 2 group E member 3,Disease-causing germline mutation(s) in,Assessed
53351,X-linked dystonia-parkinsonism,TAF1,TATA-box binding protein associated factor 1,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,PLEKHM2,pleckstrin homology and RUN domain containing M2,Major susceptibility factor in,Assessed
54260,Left ventricular noncompaction,TNNT2,"troponin T2, cardiac type",Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,PKP2,plakophilin 2,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,ACTC1,actin alpha cardiac muscle 1,Major susceptibility factor in,Assessed
54260,Left ventricular noncompaction,TBX20,T-box transcription factor 20,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,TPM1,tropomyosin 1,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,DTNA,dystrobrevin alpha,Candidate gene tested in,Not yet assessed
54260,Left ventricular noncompaction,MYBPC3,myosin binding protein C3,Candidate gene tested in,Not yet assessed
54260,Left ventricular noncompaction,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,LDB3,LIM domain binding 3,Major susceptibility factor in,Not yet assessed
54260,Left ventricular noncompaction,LMNA,lamin A/C,Major susceptibility factor in,Not yet assessed
54260,Left ventricular noncompaction,MIB1,MIB E3 ubiquitin protein ligase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
54260,Left ventricular noncompaction,PRDM16,PR/SET domain 16,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,MYH7B,myosin heavy chain 7B,Disease-causing germline mutation(s) in,Assessed
54260,Left ventricular noncompaction,MIB2,MIB E3 ubiquitin protein ligase 2,Major susceptibility factor in,Assessed
538934,X-linked lymphoproliferative disease due to XIAP deficiency,XIAP,X-linked inhibitor of apoptosis,Disease-causing germline mutation(s) in,Assessed
538931,X-linked lymphoproliferative disease due to SAP deficiency,SH2D1A,SH2 domain containing 1A,Disease-causing germline mutation(s) in,Assessed
53696,Arthrogryposis-anterior horn cell disease syndrome,GLE1,GLE1 RNA export mediator,Disease-causing germline mutation(s) in,Assessed
538872,Vegetative pyoderma gangrenosum,PTPN6,protein tyrosine phosphatase non-receptor type 6,Disease-causing germline mutation(s) in,Assessed
53697,Gnathodiaphyseal dysplasia,ANO5,anoctamin 5,Disease-causing germline mutation(s) in,Assessed
53691,Congenital cornea plana,KERA,keratocan,Disease-causing germline mutation(s) (loss of function) in,Assessed
538869,Bullous pyoderma gangrenosum,PTPN6,protein tyrosine phosphatase non-receptor type 6,Disease-causing germline mutation(s) in,Assessed
538866,Pustular pyoderma gangrenosum,PTPN6,protein tyrosine phosphatase non-receptor type 6,Disease-causing germline mutation(s) in,Assessed
53693,GRACILE syndrome,BCS1L,BCS1 ubiquinol-cytochrome c reductase complex chaperone,Disease-causing germline mutation(s) in,Assessed
48818,Aceruloplasminemia,CP,ceruloplasmin,Disease-causing germline mutation(s) (loss of function) in,Assessed
49382,Achromatopsia,PDE6C,phosphodiesterase 6C,Disease-causing germline mutation(s) in,Assessed
49382,Achromatopsia,RPGR,retinitis pigmentosa GTPase regulator,Candidate gene tested in,Not yet assessed
49382,Achromatopsia,CNGA3,cyclic nucleotide gated channel subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
49382,Achromatopsia,CNGB3,cyclic nucleotide gated channel subunit beta 3,Disease-causing germline mutation(s) in,Assessed
49382,Achromatopsia,PDE6H,phosphodiesterase 6H,Disease-causing germline mutation(s) in,Assessed
49382,Achromatopsia,GNAT2,G protein subunit alpha transducin 2,Disease-causing germline mutation(s) in,Assessed
49382,Achromatopsia,ATF6,activating transcription factor 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
538958,EBV-induced lymphoproliferative disease due to CD70 deficiency,CD70,CD70 molecule,Disease-causing germline mutation(s) in,Assessed
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,CTDP1,CTD phosphatase subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
538963,Combined immunodeficiency due to ITK deficiency,ITK,IL2 inducible T cell kinase,Disease-causing germline mutation(s) in,Assessed
50814,Craniolenticulosutural dysplasia,SEC23A,"SEC23 homolog A, COPII component",Disease-causing germline mutation(s) (loss of function) in,Assessed
49827,Thiamine-responsive megaloblastic anemia syndrome,SLC19A2,solute carrier family 19 member 2,Disease-causing germline mutation(s) in,Assessed
50251,Pleural mesothelioma,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing germline mutation(s) in,Assessed
50945,Blomstrand lethal chondrodysplasia,PTH1R,parathyroid hormone 1 receptor,Disease-causing germline mutation(s) in,Assessed
50944,Schöpf-Schulz-Passarge syndrome,WNT10A,Wnt family member 10A,Disease-causing germline mutation(s) in,Assessed
51083,Congenital short QT syndrome,SLC4A3,solute carrier family 4 member 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
51083,Congenital short QT syndrome,KCNJ2,potassium inwardly rectifying channel subfamily J member 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
51083,Congenital short QT syndrome,KCNH2,potassium voltage-gated channel subfamily H member 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
51083,Congenital short QT syndrome,KCNQ1,potassium voltage-gated channel subfamily Q member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
51083,Congenital short QT syndrome,CACNA2D1,calcium voltage-gated channel auxiliary subunit alpha2delta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
50943,Keratolytic winter erythema,CTSB,cathepsin B,Role in the phenotype of,Assessed
50942,Striate palmoplantar keratoderma,DSP,desmoplakin,Disease-causing germline mutation(s) in,Assessed
50942,Striate palmoplantar keratoderma,KRT1,keratin 1,Disease-causing germline mutation(s) in,Assessed
50942,Striate palmoplantar keratoderma,DSG1,desmoglein 1,Disease-causing germline mutation(s) in,Assessed
52022,Potocki-Shaffer syndrome,ALX4,ALX homeobox 4,Role in the phenotype of,Assessed
52022,Potocki-Shaffer syndrome,EXT2,exostosin glycosyltransferase 2,Role in the phenotype of,Assessed
52022,Potocki-Shaffer syndrome,PHF21A,PHD finger protein 21A,Role in the phenotype of,Assessed
51608,Generalized arterial calcification of infancy,ABCC6,ATP binding cassette subfamily C member 6,Disease-causing germline mutation(s) in,Assessed
51608,Generalized arterial calcification of infancy,ENPP1,ectonucleotide pyrophosphatase/phosphodiesterase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
51188,Ethylmalonic encephalopathy,ETHE1,ETHE1 persulfide dioxygenase,Disease-causing germline mutation(s) in,Assessed
541423,Growth delay-intellectual disability-hepatopathy syndrome,IARS1,isoleucyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
51208,Formiminoglutamic aciduria,FTCD,formimidoyltransferase cyclodeaminase,Disease-causing germline mutation(s) in,Assessed
51636,WHIM syndrome,CXCR4,C-X-C motif chemokine receptor 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,GNB5,G protein subunit beta 5,Disease-causing germline mutation(s) in,Assessed
542301,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,CARMIL2,capping protein regulator and myosin 1 linker 2,Disease-causing germline mutation(s) in,Assessed
542310,Leukoencephalopathy with calcifications and cysts,SNORD118,"small nucleolar RNA, C/D box 118",Disease-causing germline mutation(s) in,Assessed
42665,Tietz syndrome,MITF,melanocyte inducing transcription factor,Disease-causing germline mutation(s) in,Assessed
542585,Auditory neuropathy-optic atrophy syndrome,FDXR,ferredoxin reductase,Disease-causing germline mutation(s) in,Assessed
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,ISCU,iron-sulfur cluster assembly enzyme,Disease-causing germline mutation(s) in,Assessed
45448,Miyoshi myopathy,DYSF,dysferlin,Disease-causing germline mutation(s) in,Assessed
543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,FDXR,ferredoxin reductase,Disease-causing germline mutation(s) in,Assessed
542657,Isolated hyperchlorhidrosis,CA12,carbonic anhydrase 12,Disease-causing germline mutation(s) in,Assessed
44890,Gastrointestinal stromal tumor,PDGFRA,platelet derived growth factor receptor alpha,Disease-causing germline mutation(s) in,Assessed
44890,Gastrointestinal stromal tumor,SDHA,succinate dehydrogenase complex flavoprotein subunit A,Disease-causing germline mutation(s) (loss of function) in,Assessed
44890,Gastrointestinal stromal tumor,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Candidate gene tested in,Not yet assessed
44890,Gastrointestinal stromal tumor,SDHC,succinate dehydrogenase complex subunit C,Candidate gene tested in,Not yet assessed
44890,Gastrointestinal stromal tumor,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
44890,Gastrointestinal stromal tumor,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) (gain of function) in,Assessed
44890,Gastrointestinal stromal tumor,PDGFRA,platelet derived growth factor receptor alpha,Disease-causing somatic mutation(s) in,Assessed
45358,Congenital fibrosis of extraocular muscles,COL25A1,collagen type XXV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
45358,Congenital fibrosis of extraocular muscles,TUBA1A,tubulin alpha 1a,Disease-causing germline mutation(s) in,Assessed
45358,Congenital fibrosis of extraocular muscles,PHOX2A,paired like homeobox 2A,Disease-causing germline mutation(s) in,Assessed
45358,Congenital fibrosis of extraocular muscles,KIF21A,kinesin family member 21A,Disease-causing germline mutation(s) in,Assessed
45358,Congenital fibrosis of extraocular muscles,TUBB3,tubulin beta 3 class III,Disease-causing germline mutation(s) in,Assessed
45358,Congenital fibrosis of extraocular muscles,TUBB2B,tubulin beta 2B class IIb,Disease-causing germline mutation(s) in,Assessed
544254,SYNGAP1-related developmental and epileptic encephalopathy,SYNGAP1,synaptic Ras GTPase activating protein 1,Disease-causing germline mutation(s) in,Assessed
46348,Paroxysmal extreme pain disorder,SCN10A,sodium voltage-gated channel alpha subunit 10,Candidate gene tested in,Not yet assessed
46348,Paroxysmal extreme pain disorder,SCN11A,sodium voltage-gated channel alpha subunit 11,Candidate gene tested in,Not yet assessed
46348,Paroxysmal extreme pain disorder,SCN9A,sodium voltage-gated channel alpha subunit 9,Disease-causing germline mutation(s) (gain of function) in,Assessed
46059,Lathosterolosis,SC5D,sterol-C5-desaturase,Disease-causing germline mutation(s) in,Assessed
47044,Hereditary papillary renal cell carcinoma,MET,"MET proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
46627,Char syndrome,TFAP2B,transcription factor AP-2 beta,Disease-causing germline mutation(s) in,Assessed
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,HBG1,hemoglobin subunit gamma 1,Disease-causing germline mutation(s) in,Assessed
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,HBG2,hemoglobin subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,KLF1,KLF transcription factor 1,Disease-causing germline mutation(s) in,Assessed
544503,RNF13-related severe early-onset epileptic encephalopathy,RNF13,ring finger protein 13,Disease-causing germline mutation(s) (gain of function) in,Assessed
544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,ODC1,ornithine decarboxylase 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
544469,PRUNE1-related neurological syndrome,PRUNE1,prune exopolyphosphatase 1,Disease-causing germline mutation(s) in,Assessed
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,THBD,thrombomodulin,Candidate gene tested in,Not yet assessed
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,C3,complement C3,Disease-causing germline mutation(s) in,Assessed
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,CD46,CD46 molecule,Disease-causing germline mutation(s) in,Assessed
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,CFB,complement factor B,Disease-causing germline mutation(s) in,Assessed
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,CFH,complement factor H,Disease-causing germline mutation(s) in,Assessed
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,CFI,complement factor I,Disease-causing germline mutation(s) in,Assessed
47045,Familial cold urticaria,NLRP3,NLR family pyrin domain containing 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,HNF4A,hepatocyte nuclear factor 4 alpha,Disease-causing germline mutation(s) in,Assessed
544602,Congenital myopathy with reduced type 2 muscle fibers,MYL1,myosin light chain 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
555402,NAD(P)HX dehydratase deficiency,NAXD,NAD(P)HX dehydratase,Disease-causing germline mutation(s) in,Assessed
555407,NAD(P)HX epimerase deficiency,NAXE,NAD(P)HX epimerase,Disease-causing germline mutation(s) in,Assessed
555877,FLNA-related X-linked myxomatous valvular dysplasia,FLNA,filamin A,Disease-causing germline mutation(s) in,Assessed
556030,Early-onset familial hypoaldosteronism,CYP11B2,cytochrome P450 family 11 subfamily B member 2,Disease-causing germline mutation(s) in,Assessed
556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,CSF1R,colony stimulating factor 1 receptor,Disease-causing germline mutation(s) in,Assessed
556955,Pancreatic agenesis-holoprosencephaly syndrome,CNOT1,CCR4-NOT transcription complex subunit 1,Disease-causing germline mutation(s) in,Assessed
557064,Neonatal epileptic encephalopathy due to glutaminase deficiency,GLS,glutaminase,Disease-causing germline mutation(s) (loss of function) in,Assessed
557056,Spastic ataxia-dysarthria due to glutaminase deficiency,GLS,glutaminase,Disease-causing germline mutation(s) (loss of function) in,Assessed
557003,Oculoskeletodental syndrome,PIK3C2A,phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha,Disease-causing germline mutation(s) (loss of function) in,Assessed
519388,Autosomal recessive anterior segment dysgenesis,CPAMD8,C3 and PZP like alpha-2-macroglobulin domain containing 8,Disease-causing germline mutation(s) in,Assessed
90050,Retinopathy of prematurity,LRP5,LDL receptor related protein 5,Major susceptibility factor in,Assessed
90050,Retinopathy of prematurity,FZD4,frizzled class receptor 4,Major susceptibility factor in,Assessed
90050,Retinopathy of prematurity,NDP,norrin cystine knot growth factor NDP,Major susceptibility factor in,Assessed
90045,Hereditary folate malabsorption,SLC46A1,solute carrier family 46 member 1,Disease-causing germline mutation(s) in,Assessed
90039,Hemoglobin D disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
90044,Familial pseudohyperkalemia,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) (gain of function) in,Assessed
90042,Primary familial polycythemia,EPOR,erythropoietin receptor,Disease-causing germline mutation(s) in,Assessed
90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",FGF3,fibroblast growth factor 3,Disease-causing germline mutation(s) in,Assessed
90023,Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency,LAMTOR2,"late endosomal/lysosomal adaptor, MAPK and MTOR activator 2",Disease-causing germline mutation(s) in,Assessed
90020,Parkinson-dementia complex of Guam,PARK7,Parkinsonism associated deglycase,Major susceptibility factor in,Not yet assessed
90020,Parkinson-dementia complex of Guam,TRPM7,transient receptor potential cation channel subfamily M member 7,Major susceptibility factor in,Not yet assessed
90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,HK1,hexokinase 1,Disease-causing germline mutation(s) in,Assessed
90026,Primary erythromelalgia,SCN9A,sodium voltage-gated channel alpha subunit 9,Disease-causing germline mutation(s) (gain of function) in,Assessed
90026,Primary erythromelalgia,SCN10A,sodium voltage-gated channel alpha subunit 10,Candidate gene tested in,Not yet assessed
90026,Primary erythromelalgia,SCN11A,sodium voltage-gated channel alpha subunit 11,Candidate gene tested in,Not yet assessed
90030,Hemolytic anemia due to glutathione reductase deficiency,GSR,glutathione-disulfide reductase,Disease-causing germline mutation(s) in,Assessed
89936,X-linked hypophosphatemia,PHEX,phosphate regulating endopeptidase X-linked,Disease-causing germline mutation(s) (loss of function) in,Assessed
89844,"Lissencephaly syndrome, Norman-Roberts type",NDE1,nudE neurodevelopment protein 1,Disease-causing germline mutation(s) in,Assessed
89844,"Lissencephaly syndrome, Norman-Roberts type",KATNB1,katanin regulatory subunit B1,Disease-causing germline mutation(s) in,Assessed
89844,"Lissencephaly syndrome, Norman-Roberts type",RELN,reelin,Disease-causing germline mutation(s) in,Assessed
89843,Dystrophic epidermolysis bullosa pruriginosa,COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
90001,X-linked cone dysfunction syndrome with myopia,OPN1MW,"opsin 1, medium wave sensitive",Candidate gene tested in,Not yet assessed
90001,X-linked cone dysfunction syndrome with myopia,OPN1LW,"opsin 1, long wave sensitive",Candidate gene tested in,Not yet assessed
89938,Bartter syndrome type 4,BSND,barttin CLCNK type accessory subunit beta,Disease-causing germline mutation(s) in,Assessed
89938,Bartter syndrome type 4,CLCNKB,chloride voltage-gated channel Kb,Disease-causing germline mutation(s) (loss of function) in,Assessed
89938,Bartter syndrome type 4,CLCNKA,chloride voltage-gated channel Ka,Disease-causing germline mutation(s) (loss of function) in,Assessed
89937,Autosomal dominant hypophosphatemic rickets,FGF23,fibroblast growth factor 23,Disease-causing germline mutation(s) (gain of function) in,Assessed
90340,Blau syndrome,NOD2,nucleotide binding oligomerization domain containing 2,Disease-causing germline mutation(s) in,Assessed
90342,Xeroderma pigmentosum variant,POLH,DNA polymerase eta,Disease-causing germline mutation(s) in,Assessed
90348,Autosomal dominant cutis laxa,ALDH18A1,aldehyde dehydrogenase 18 family member A1,Disease-causing germline mutation(s) in,Assessed
90348,Autosomal dominant cutis laxa,FBLN5,fibulin 5,Disease-causing germline mutation(s) in,Assessed
90348,Autosomal dominant cutis laxa,ELN,elastin,Disease-causing germline mutation(s) in,Assessed
90349,Autosomal recessive cutis laxa type 1,EFEMP2,EGF-like fibulin extracellular matrix protein 2,Disease-causing germline mutation(s) in,Assessed
90349,Autosomal recessive cutis laxa type 1,FBLN5,fibulin 5,Disease-causing germline mutation(s) in,Assessed
90349,Autosomal recessive cutis laxa type 1,LTBP1,latent transforming growth factor beta binding protein 1,Disease-causing germline mutation(s) in,Assessed
90354,Brittle cornea syndrome,ZNF469,zinc finger protein 469,Disease-causing germline mutation(s) in,Assessed
90354,Brittle cornea syndrome,PRDM5,PR/SET domain 5,Disease-causing germline mutation(s) in,Assessed
90308,Capillary-lymphatic-venous malformation with segmental distribution,AGGF1,angiogenic factor with G-patch and FHA domains 1,Major susceptibility factor in,Assessed
90308,Capillary-lymphatic-venous malformation with segmental distribution,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
90307,Parkes Weber syndrome,RASA1,RAS p21 protein activator 1,Disease-causing germline mutation(s) in,Assessed
90322,Cockayne syndrome type 2,ERCC6,"ERCC excision repair 6, chromatin remodeling factor",Disease-causing germline mutation(s) (loss of function) in,Assessed
90322,Cockayne syndrome type 2,ERCC8,"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",Disease-causing germline mutation(s) in,Assessed
90322,Cockayne syndrome type 2,ERCC1,"ERCC excision repair 1, endonuclease non-catalytic subunit",Disease-causing germline mutation(s) in,Assessed
90321,Cockayne syndrome type 1,ERCC4,"ERCC excision repair 4, endonuclease catalytic subunit",Disease-causing germline mutation(s) in,Assessed
90321,Cockayne syndrome type 1,ERCC6,"ERCC excision repair 6, chromatin remodeling factor",Disease-causing germline mutation(s) (loss of function) in,Assessed
90321,Cockayne syndrome type 1,ERCC8,"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",Disease-causing germline mutation(s) in,Assessed
90324,Cockayne syndrome type 3,ERCC6,"ERCC excision repair 6, chromatin remodeling factor",Disease-causing germline mutation(s) (loss of function) in,Assessed
90324,Cockayne syndrome type 3,ERCC8,"ERCC excision repair 8, CSA ubiquitin ligase complex subunit",Disease-causing germline mutation(s) in,Assessed
90153,Mandibuloacral dysplasia with type A lipodystrophy,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
90154,Mandibuloacral dysplasia with type B lipodystrophy,ZMPSTE24,zinc metallopeptidase STE24,Disease-causing germline mutation(s) in,Assessed
90186,Meige disease,EPHB4,EPH receptor B4,Disease-causing germline mutation(s) in,Assessed
90118,Severe early-onset axonal neuropathy due to MFN2 deficiency,MFN2,mitofusin 2,Disease-causing germline mutation(s) in,Assessed
90117,"Hereditary motor and sensory neuropathy, Okinawa type",TFG,trafficking from ER to golgi regulator,Disease-causing germline mutation(s) in,Assessed
90120,Hereditary motor and sensory neuropathy type 6,SLC25A46,solute carrier family 25 member 46,Disease-causing germline mutation(s) (loss of function) in,Assessed
90120,Hereditary motor and sensory neuropathy type 6,MFN2,mitofusin 2,Disease-causing germline mutation(s) in,Assessed
88644,"Autosomal recessive ataxia, Beauce type",SYNE1,spectrin repeat containing nuclear envelope protein 1,Disease-causing germline mutation(s) in,Assessed
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,POLR3B,RNA polymerase III subunit B,Disease-causing germline mutation(s) in,Assessed
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,POLR1C,RNA polymerase I and III subunit C,Disease-causing germline mutation(s) in,Assessed
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,POLR3A,RNA polymerase III subunit A,Disease-causing germline mutation(s) in,Assessed
88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,HIBCH,3-hydroxyisobutyryl-CoA hydrolase,Disease-causing germline mutation(s) in,Assessed
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,SCN9A,sodium voltage-gated channel alpha subunit 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,SCN10A,sodium voltage-gated channel alpha subunit 10,Candidate gene tested in,Not yet assessed
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,SCN11A,sodium voltage-gated channel alpha subunit 11,Candidate gene tested in,Not yet assessed
88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,CASQ1,calsequestrin 1,Disease-causing germline mutation(s) in,Assessed
88621,Ichthyosis-prematurity syndrome,SLC27A4,solute carrier family 27 member 4,Disease-causing germline mutation(s) in,Assessed
88628,Posterior column ataxia-retinitis pigmentosa syndrome,FLVCR1,FLVCR choline and heme transporter 1,Disease-causing germline mutation(s) in,Assessed
88629,Tritanopia,OPN1SW,"opsin 1, short wave sensitive",Disease-causing germline mutation(s) in,Assessed
88630,Terminal osseous dysplasia-pigmentary defects syndrome,FLNA,filamin A,Disease-causing germline mutation(s) in,Assessed
88620,Isolated congenital anosmia,TENM1,teneurin transmembrane protein 1,Disease-causing germline mutation(s) in,Assessed
88620,Isolated congenital anosmia,CNGA2,cyclic nucleotide gated channel subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
88619,Familial acute necrotizing encephalopathy,RANBP2,RAN binding protein 2,Disease-causing germline mutation(s) in,Assessed
88618,S-adenosylhomocysteine hydrolase deficiency,AHCY,adenosylhomocysteinase,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,DCPS,"decapping enzyme, scavenger",Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,B3GALNT2,"beta-1,3-N-acetylgalactosaminyltransferase 2",Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,IMPA1,inositol monophosphatase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,ABCA2,ATP binding cassette subfamily A member 2,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,CHKA,choline kinase alpha,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,GRIA1,glutamate ionotropic receptor AMPA type subunit 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,CEP104,centrosomal protein 104,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,GRIN1,glutamate ionotropic receptor NMDA type subunit 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,AIMP1,aminoacyl tRNA synthetase complex interacting multifunctional protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,CRBN,cereblon,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,TUSC3,tumor suppressor candidate 3,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,TECR,"trans-2,3-enoyl-CoA reductase",Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,GRIK2,glutamate ionotropic receptor kainate type subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,WASHC4,WASH complex subunit 4,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,TRAPPC9,trafficking protein particle complex subunit 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,PRSS12,serine protease 12,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,MED23,mediator complex subunit 23,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,CRADD,CARD and death domain containing adaptor protein,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,ZC3H14,zinc finger CCCH-type containing 14,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,NSUN2,NOP2/Sun RNA methyltransferase 2,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,LINS1,lines homolog 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,PGAP1,post-GPI attachment to proteins inositol deacylase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,METTL23,"methyltransferase 23, arginine",Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,CLIP1,CAP-Gly domain containing linker protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,FBXO31,F-box protein 31,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,NDST1,N-deacetylase and N-sulfotransferase 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,FMN2,formin 2,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,EDC3,enhancer of mRNA decapping 3,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,HNMT,histamine N-methyltransferase,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,EZR,ezrin,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,LMAN2L,"lectin, mannose binding 2 like",Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,NEMF,nuclear export mediator factor,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,GRM7,glutamate metabotropic receptor 7,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,IQSEC1,IQ motif and Sec7 domain ArfGEF 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,TNIK,TRAF2 and NCK interacting kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,NCDN,neurochondrin,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,UBE4A,ubiquitination factor E4A,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,TTC5,tetratricopeptide repeat domain 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,PIGC,phosphatidylinositol glycan anchor biosynthesis class C,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,SLC45A1,solute carrier family 45 member 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,GEMIN5,gem nuclear organelle associated protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,FRRS1L,ferric chelate reductase 1 like,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,ALKBH8,"alkB homolog 8, tRNA methyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,MBOAT7,membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7,Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,FERRY3,FERRY endosomal RAB5 effector complex subunit 3,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,SARS1,seryl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,RSRC1,arginine and serine rich coiled-coil 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,MED25,mediator complex subunit 25,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,NAA20,"N-alpha-acetyltransferase 20, NatB catalytic subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,CC2D1A,coiled-coil and C2 domain containing 1A,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,MAN1B1,mannosidase alpha class 1B member 1,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,TPR,"translocated promoter region, nuclear basket protein",Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,KDM5B,lysine demethylase 5B,Disease-causing germline mutation(s) in,Assessed
88616,Autosomal recessive non-syndromic intellectual disability,EEF1B2,eukaryotic translation elongation factor 1 beta 2,Disease-causing germline mutation(s) in,Assessed
87503,Mal de Meleda,SLURP1,secreted LY6/PLAUR domain containing 1,Disease-causing germline mutation(s) in,Assessed
86920,Dermatopathia pigmentosa reticularis,KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,SYT1,synaptotagmin 1,Disease-causing germline mutation(s) in,Assessed
86911,Epilepsy with myoclonic absences,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) in,Assessed
521450,LAMA5-related multisystemic syndrome,LAMA5,laminin subunit alpha 5,Disease-causing germline mutation(s) in,Assessed
521445,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,ADAMTSL1,ADAMTS like 1,Disease-causing germline mutation(s) in,Assessed
521438,Congenital vertebral-cardiac-renal anomalies syndrome,KYNU,kynureninase,Disease-causing germline mutation(s) (loss of function) in,Assessed
521438,Congenital vertebral-cardiac-renal anomalies syndrome,NADSYN1,NAD synthetase 1,Disease-causing germline mutation(s) in,Assessed
521438,Congenital vertebral-cardiac-renal anomalies syndrome,HAAO,"3-hydroxyanthranilate 3,4-dioxygenase",Disease-causing germline mutation(s) (loss of function) in,Assessed
521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,CYP51A1,cytochrome P450 family 51 subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
521426,PLAA-associated neurodevelopmental disorder,PLAA,phospholipase A2 activating protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,ATP1A1,ATPase Na+/K+ transporting subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
521258,Xq25 microduplication syndrome,STAG2,STAG2 cohesin complex component,Role in the phenotype of,Assessed
521305,Proximal myopathy with focal depletion of mitochondria,CHKB,choline kinase beta,Disease-causing germline mutation(s) in,Assessed
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,KIDINS220,kinase D interacting substrate 220,Disease-causing germline mutation(s) in,Assessed
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,SLC39A14,solute carrier family 39 member 14,Disease-causing germline mutation(s) in,Assessed
89838,Autosomal recessive generalized epidermolysis bullosa simplex,KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,SCO2,synthesis of cytochrome C oxidase 2,Disease-causing germline mutation(s) in,Assessed
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,MUC1,"mucin 1, cell surface associated",Disease-causing germline mutation(s) in,Assessed
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,UMOD,uromodulin,Disease-causing germline mutation(s) in,Assessed
88940,Pseudohypoaldosteronism type 2C,WNK1,WNK lysine deficient protein kinase 1,Disease-causing germline mutation(s) in,Assessed
88939,Pseudohypoaldosteronism type 2B,WNK4,WNK lysine deficient protein kinase 4,Disease-causing germline mutation(s) in,Assessed
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,TSC2,TSC complex subunit 2,Role in the phenotype of,Assessed
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,PKD1,"polycystin 1, transient receptor potential channel interacting",Role in the phenotype of,Assessed
88918,Autosomal dominant Alport syndrome,COL4A3,collagen type IV alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
88918,Autosomal dominant Alport syndrome,COL4A4,collagen type IV alpha 4 chain,Disease-causing germline mutation(s) in,Assessed
88919,Autosomal recessive Alport syndrome,COL4A3,collagen type IV alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
88919,Autosomal recessive Alport syndrome,COL4A4,collagen type IV alpha 4 chain,Disease-causing germline mutation(s) in,Assessed
88917,X-linked Alport syndrome,COL4A5,collagen type IV alpha 5 chain,Disease-causing germline mutation(s) in,Assessed
93256,Fragile X-associated tremor/ataxia syndrome,FMR1,fragile X messenger ribonucleoprotein 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,CLDN10,claudin 10,Disease-causing germline mutation(s) in,Assessed
528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,LARS2,"leucyl-tRNA synthetase 2, mitochondrial",Candidate gene tested in,Not yet assessed
528084,Non-specific syndromic intellectual disability,ZMIZ1,zinc finger MIZ-type containing 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PUS7,pseudouridine synthase 7,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TRAPPC4,trafficking protein particle complex subunit 4,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MAN2C1,mannosidase alpha class 2C member 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,BAP1,BRCA1 associated deubiquitinase 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TRIP12,thyroid hormone receptor interactor 12,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ZNF526,zinc finger protein 526,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,BCORL1,BCL6 corepressor like 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CHD5,chromodomain helicase DNA binding protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,PAK3,p21 (RAC1) activated kinase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,BRWD3,bromodomain and WD repeat domain containing 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TBR1,T-box brain transcription factor 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,AGO1,argonaute RISC component 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,KMT2E,lysine methyltransferase 2E (inactive),Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SVBP,small vasohibin binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,CERT1,ceramide transporter 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,FBXW11,F-box and WD repeat domain containing 11,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ANKRD17,ankyrin repeat domain 17,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,EMC10,ER membrane protein complex subunit 10,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SPTBN1,"spectrin beta, non-erythrocytic 1",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,LMBRD2,LMBR1 domain containing 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TRMT1,tRNA methyltransferase 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CNOT1,CCR4-NOT transcription complex subunit 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CDK8,cyclin dependent kinase 8,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PGM2L1,phosphoglucomutase 2 like 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CTR9,CTR9 component of Paf1/RNA polymerase II complex,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,RALA,RAS like proto-oncogene A,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,NOVA2,NOVA alternative splicing regulator 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,HNRNPC,heterogeneous nuclear ribonucleoprotein C,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ATP6V0A1,ATPase H+ transporting V0 subunit a1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TAF4,TATA-box binding protein associated factor 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,EIF4A2,eukaryotic translation initiation factor 4A2,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,SCAF4,SR-related CTD associated factor 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,CAPRIN1,cell cycle associated protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,PPP2CA,protein phosphatase 2 catalytic subunit alpha,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MED12L,mediator complex subunit 12L,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TMEM222,transmembrane protein 222,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,OTUD5,OTU deubiquitinase 5,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SIAH1,siah E3 ubiquitin protein ligase 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,RAC3,Rac family small GTPase 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,FAM50A,family with sequence similarity 50 member A,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ZMYM2,zinc finger MYM-type containing 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,AP1G1,adaptor related protein complex 1 subunit gamma 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ATP9A,ATPase phospholipid transporting 9A,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,DOHH,deoxyhypusine hydroxylase,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ADGRL1,adhesion G protein-coupled receptor L1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CSNK2A1,casein kinase 2 alpha 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TNRC6B,trinucleotide repeat containing adaptor 6B,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CUL3,cullin 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SETD5,SET domain containing 5,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SRCAP,Snf2 related CREBBP activator protein,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,RNF2,ring finger protein 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SYNCRIP,synaptotagmin binding cytoplasmic RNA interacting protein,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,GNB2,G protein subunit beta 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PRPF8,pre-mRNA processing factor 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,NRCAM,neuronal cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,H4C5,H4 clustered histone 5,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TIAM1,TIAM Rac1 associated GEF 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,CACNA1C,calcium voltage-gated channel subunit alpha1 C,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,WDFY3,WD repeat and FYVE domain containing 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,GRIK2,glutamate ionotropic receptor kainate type subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,NTNG1,netrin G1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CNOT3,CCR4-NOT transcription complex subunit 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,UBR7,ubiquitin protein ligase E3 component n-recognin 7,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,WASF1,WASP family member 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ZNF142,zinc finger protein 142,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,SETD1A,"SET domain containing 1A, histone lysine methyltransferase",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MADD,MAP kinase activating death domain,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,NTNG2,netrin G2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,H4C3,H4 clustered histone 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CCDC32,coiled-coil domain containing 32,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PALS1,"protein associated with LIN7 1, MAGUK p55 family member",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,KDM4B,lysine demethylase 4B,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ACTL6B,actin like 6B,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,DLG4,discs large MAGUK scaffold protein 4,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,DDX6,DEAD-box helicase 6,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,DPYSL5,dihydropyrimidinase like 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,MED27,mediator complex subunit 27,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,HPDL,4-hydroxyphenylpyruvate dioxygenase like,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,HS2ST1,heparan sulfate 2-O-sulfotransferase 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,GRIA4,glutamate ionotropic receptor AMPA type subunit 4,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MED13,mediator complex subunit 13,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TCF20,transcription factor 20,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TCF7L2,transcription factor 7 like 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,JARID2,jumonji and AT-rich interaction domain containing 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,HUWE1,"HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PTPN23,protein tyrosine phosphatase non-receptor type 23,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MAPK8IP3,mitogen-activated protein kinase 8 interacting protein 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,TANC2,"tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,EIF5A,eukaryotic translation initiation factor 5A,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,ZNF699,zinc finger protein 699,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,H4C9,H4 clustered histone 9,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,DOCK3,dedicator of cytokinesis 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,NAA15,"N-alpha-acetyltransferase 15, NatA auxiliary subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,RORA,RAR related orphan receptor A,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,RLIM,"ring finger protein, LIM domain interacting",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ACTL6A,actin like 6A,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,CLCN3,chloride voltage-gated channel 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,AGO2,"argonaute 2, RISC catalytic component",Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,KAT8,lysine acetyltransferase 8,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,HTT,huntingtin,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ATP2B1,ATPase plasma membrane Ca2+ transporting 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PLXNA1,plexin A1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,KMT2B,lysine methyltransferase 2B,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PCDHGC4,"protocadherin gamma subfamily C, 4",Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,CPSF3,cleavage and polyadenylation specific factor 3,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MSL2,MSL complex subunit 2,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,UPF1,UPF1 RNA helicase and ATPase,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,FBXO11,F-box protein 11,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,MYCBP2,MYC binding protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
528084,Non-specific syndromic intellectual disability,FBXW7,F-box and WD repeat domain containing 7,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,ZNF292,zinc finger protein 292,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,WARS1,tryptophanyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
528084,Non-specific syndromic intellectual disability,PSMD12,"proteasome 26S subunit, non-ATPase 12",Disease-causing germline mutation(s) in,Assessed
93262,Crouzon syndrome-acanthosis nigricans syndrome,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
93260,Pfeiffer syndrome type 3,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
93259,Pfeiffer syndrome type 2,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
93258,Pfeiffer syndrome type 1,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) in,Assessed
93258,Pfeiffer syndrome type 1,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",IFT80,intraflagellar transport 80,Disease-causing germline mutation(s) in,Assessed
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",DYNC2H1,dynein cytoplasmic 2 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",WDR35,WD repeat domain 35,Disease-causing germline mutation(s) in,Assessed
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",DYNC2I1,dynein 2 intermediate chain 1,Disease-causing germline mutation(s) in,Assessed
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",DYNC2I2,dynein 2 intermediate chain 2,Disease-causing germline mutation(s) in,Assessed
93269,"Short rib-polydactyly syndrome, Majewski type",TRAF3IP1,TRAF3 interacting protein 1,Disease-causing germline mutation(s) in,Assessed
93269,"Short rib-polydactyly syndrome, Majewski type",DYNC2H1,dynein cytoplasmic 2 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
93269,"Short rib-polydactyly syndrome, Majewski type",NEK1,NIMA related kinase 1,Disease-causing germline mutation(s) in,Assessed
93270,"Short rib-polydactyly syndrome, Saldino-Noonan type",DYNC2H1,dynein cytoplasmic 2 heavy chain 1,Disease-causing germline mutation(s) in,Assessed
93268,"Short rib-polydactyly syndrome, Beemer-Langer type",IFT80,intraflagellar transport 80,Disease-causing germline mutation(s) in,Assessed
93268,"Short rib-polydactyly syndrome, Beemer-Langer type",IFT122,intraflagellar transport 122,Candidate gene tested in,Not yet assessed
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",PAPSS2,3'-phosphoadenosine 5'-phosphosulfate synthase 2,Disease-causing germline mutation(s) in,Assessed
93283,"Spondyloepiphyseal dysplasia, Kimberley type",ACAN,aggrecan,Disease-causing germline mutation(s) in,Assessed
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
93276,Polyostotic fibrous dysplasia,GNAS,GNAS complex locus,Disease-causing somatic mutation(s) in,Assessed
93277,Monostotic fibrous dysplasia,GNAS,GNAS complex locus,Disease-causing somatic mutation(s) in,Assessed
93274,Thanatophoric dysplasia type 2,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,NKX6-2,NK6 homeobox 2,Disease-causing germline mutation(s) in,Assessed
93110,Posterior urethral valve,BNC2,basonuclin zinc finger protein 2,Disease-causing germline mutation(s) in,Assessed
527450,Severe myopia-generalized joint laxity-short stature syndrome,GZF1,GDNF inducible zinc finger protein 1,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",RET,ret proto-oncogene,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",FRAS1,Fraser extracellular matrix complex subunit 1,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",BMP4,bone morphogenetic protein 4,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",FREM2,FRAS1 related extracellular matrix 2,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",FREM1,FRAS1 related extracellular matrix 1,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",UPK3A,uroplakin 3A,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",DSTYK,dual serine/threonine and tyrosine protein kinase,Disease-causing germline mutation(s) in,Assessed
93100,"Renal agenesis, unilateral",GREB1L,GREB1 like retinoic acid receptor coactivator,Disease-causing germline mutation(s) (loss of function) in,Assessed
527468,Diaphragmatic hernia-short bowel-asplenia syndrome,HLX,H2.0 like homeobox,Disease-causing germline mutation(s) in,Assessed
92050,Congenital tufting enteropathy,EPCAM,epithelial cell adhesion molecule,Disease-causing germline mutation(s) in,Assessed
93160,Hypocalcemic vitamin D-resistant rickets,VDR,vitamin D receptor,Disease-causing germline mutation(s) in,Assessed
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,INF2,"inverted formin, FH2 and WH2 domain containing",Disease-causing germline mutation(s) in,Assessed
93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) in,Assessed
93172,"Renal dysplasia, unilateral",HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) in,Assessed
93173,"Renal dysplasia, bilateral",HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) in,Assessed
93322,Isolated tibial hemimelia,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
93321,Isolated radial hemimelia,LMBR1,limb development membrane protein 1,Disease-causing germline mutation(s) in,Assessed
93321,Isolated radial hemimelia,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93325,Autosomal dominant Kenny-Caffey syndrome,FAM111A,FAM111 trypsin like peptidase A,Disease-causing germline mutation(s) in,Assessed
93324,Autosomal recessive Kenny-Caffey syndrome,TBCE,tubulin folding cofactor E,Disease-causing germline mutation(s) in,Assessed
93329,Autosomal recessive omodysplasia,GPC6,glypican 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
93328,Autosomal dominant omodysplasia,FZD2,frizzled class receptor 2,Disease-causing germline mutation(s) in,Assessed
93336,Polydactyly of a triphalangeal thumb,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93336,Polydactyly of a triphalangeal thumb,LMBR1,limb development membrane protein 1,Disease-causing germline mutation(s) in,Assessed
93335,Postaxial polydactyly type B,GLI1,GLI family zinc finger 1,Disease-causing germline mutation(s) in,Assessed
93335,Postaxial polydactyly type B,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
93334,Postaxial polydactyly type A,GLI1,GLI family zinc finger 1,Disease-causing germline mutation(s) in,Assessed
93334,Postaxial polydactyly type A,KIAA0825,KIAA0825,Disease-causing germline mutation(s) in,Assessed
93334,Postaxial polydactyly type A,ZNF141,zinc finger protein 141,Disease-causing germline mutation(s) in,Assessed
93334,Postaxial polydactyly type A,IQCE,IQ motif containing E,Disease-causing germline mutation(s) in,Assessed
93334,Postaxial polydactyly type A,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
93334,Postaxial polydactyly type A,CIBAR1,CBY1 interacting BAR domain containing 1,Disease-causing germline mutation(s) in,Assessed
93333,Pelviscapular dysplasia,TBX15,T-box transcription factor 15,Disease-causing germline mutation(s) (loss of function) in,Assessed
93339,Polydactyly of a biphalangeal thumb and/or hallux,GLI1,GLI family zinc finger 1,Disease-causing germline mutation(s) in,Assessed
93338,Polysyndactyly,GLI3,GLI family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
93349,X-linked spondyloepimetaphyseal dysplasia,BGN,biglycan,Disease-causing germline mutation(s) in,Assessed
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
93347,Anauxetic dysplasia,RMRP,RNA component of mitochondrial RNA processing endoribonuclease,Disease-causing germline mutation(s) in,Assessed
93347,Anauxetic dysplasia,POP1,POP1 ribonuclease P/MRP subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
93347,Anauxetic dysplasia,RMP64,ribonuclease MRP subunit p64,Disease-causing germline mutation(s) in,Assessed
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",MMP13,matrix metallopeptidase 13,Disease-causing germline mutation(s) in,Assessed
93352,"Spondyloepimetaphyseal dysplasia, Shohat type",DDRGK1,DDRGK domain containing 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
93284,Spondyloepiphyseal dysplasia tarda,TRAPPC2,trafficking protein particle complex subunit 2,Disease-causing germline mutation(s) in,Assessed
93296,Achondrogenesis type 2,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
93298,Achondrogenesis type 1B,SLC26A2,solute carrier family 26 member 2,Disease-causing germline mutation(s) in,Assessed
93297,Hypochondrogenesis,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
93299,Achondrogenesis type 1A,TRIP11,thyroid hormone receptor interactor 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
93304,Autosomal dominant brachyolmia,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
93307,Multiple epiphyseal dysplasia type 4,SLC26A2,solute carrier family 26 member 2,Disease-causing germline mutation(s) in,Assessed
93308,Multiple epiphyseal dysplasia type 1,COMP,cartilage oligomeric matrix protein,Disease-causing germline mutation(s) in,Assessed
93311,Multiple epiphyseal dysplasia type 5,MATN3,matrilin 3,Disease-causing germline mutation(s) in,Assessed
93314,"Spondylometaphyseal dysplasia, Kozlowski type",TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) in,Assessed
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",COL2A1,collagen type II alpha 1 chain,Candidate gene tested in,Not yet assessed
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",FN1,fibronectin 1,Disease-causing germline mutation(s) in,Assessed
93316,"Spondylometaphyseal dysplasia, Schmidt type",COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
93317,"Spondylometaphyseal dysplasia, Sedaghatian type",GPX4,glutathione peroxidase 4,Disease-causing germline mutation(s) in,Assessed
529962,17q24.2 microdeletion syndrome,BPTF,bromodomain PHD finger transcription factor,Role in the phenotype of,Assessed
529962,17q24.2 microdeletion syndrome,PSMD12,"proteasome 26S subunit, non-ATPase 12",Role in the phenotype of,Assessed
90673,Hypothyroidism due to TSH receptor mutations,TSHR,thyroid stimulating hormone receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
90674,Isolated thyroid-stimulating hormone deficiency,TSHB,thyroid stimulating hormone subunit beta,Disease-causing germline mutation(s) in,Assessed
90658,Charcot-Marie-Tooth disease type 1E,PMP22,peripheral myelin protein 22,Disease-causing germline mutation(s) in,Assessed
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,HSD3B2,"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2",Disease-causing germline mutation(s) in,Assessed
529980,Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome,NFAT5,nuclear factor of activated T cells 5,Candidate gene tested in,Not yet assessed
529977,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,RIPK1,receptor interacting serine/threonine kinase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
90695,Non-acquired panhypopituitarism,SOX3,SRY-box transcription factor 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
90695,Non-acquired panhypopituitarism,PROP1,PROP paired-like homeobox 1,Disease-causing germline mutation(s) in,Assessed
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,CHD1,chromodomain helicase DNA binding protein 1,Disease-causing germline mutation(s) in,Assessed
529970,Male infertility due to acephalic spermatozoa,PMFBP1,polyamine modulated factor 1 binding protein 1,Disease-causing germline mutation(s) in,Assessed
529970,Male infertility due to acephalic spermatozoa,SUN5,Sad1 and UNC84 domain containing 5,Disease-causing germline mutation(s) in,Assessed
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,PRPS1,phosphoribosyl pyrophosphate synthetase 1,Disease-causing germline mutation(s) in,Assessed
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,COL4A6,collagen type IV alpha 6 chain,Disease-causing germline mutation(s) in,Assessed
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,SMPX,small muscle protein X-linked,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,KITLG,KIT ligand,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,CENPP,centromere protein P,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,USP48,ubiquitin specific peptidase 48,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,SSBP1,single stranded DNA binding protein 1,Major susceptibility factor in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,TRRAP,transformation/transcription domain associated protein,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,PDE1C,phosphodiesterase 1C,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,ATP11A,ATPase phospholipid transporting 11A,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,SLC44A4,solute carrier family 44 member 4,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,POU4F3,POU class 4 homeobox 3,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,SIX1,SIX homeobox 1,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,TECTA,tectorin alpha,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,TMC1,transmembrane channel like 1,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,WFS1,wolframin ER transmembrane glycoprotein,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,COCH,cochlin,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,COL11A2,collagen type XI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,GSDME,gasdermin E,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,COL11A1,collagen type XI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,EYA4,EYA transcriptional coactivator and phosphatase 4,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,GJB2,gap junction protein beta 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,GJB3,gap junction protein beta 3,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,GJB6,gap junction protein beta 6,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,KCNQ4,potassium voltage-gated channel subfamily Q member 4,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MYH14,myosin heavy chain 14,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MYH9,myosin heavy chain 9,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MYO6,myosin VI,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MYO7A,myosin VIIA,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,CCDC50,coiled-coil domain containing 50,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,GRHL2,grainyhead like transcription factor 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,CRYM,crystallin mu,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,ACTG1,actin gamma 1,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,SLC17A8,solute carrier family 17 member 8,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MIR96,microRNA 96,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,TJP2,tight junction protein 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,CEACAM16,"CEA cell adhesion molecule 16, tectorial membrane component",Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,DIAPH3,diaphanous related formin 3,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,DIABLO,diablo IAP-binding mitochondrial protein,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,P2RX2,purinergic receptor P2X 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,TNC,tenascin C,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MYO1C,myosin IC,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,OSBPL2,oxysterol binding protein like 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,HOMER2,homer scaffold protein 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MCM2,minichromosome maintenance complex component 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,CD164,CD164 molecule,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,ABCC1,ATP binding cassette subfamily C member 1 (ABCC1 blood group),Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,PTPRQ,protein tyrosine phosphatase receptor type Q,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,PLS1,plastin 1,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MAP1B,microtubule associated protein 1B,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,DMXL2,Dmx like 2,Disease-causing germline mutation(s) in,Assessed
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,MYO1A,myosin IA,Candidate gene tested in,Not yet assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,PPIP5K2,diphosphoinositol pentakisphosphate kinase 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TMEM132E,transmembrane protein 132E,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GRAP,GRB2 related adaptor protein,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,BDP1,BDP1 general transcription factor IIIB subunit,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,AFG2B,AAA ATPase AFG2B,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CEACAM16,"CEA cell adhesion molecule 16, tectorial membrane component",Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,NARS2,"asparaginyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ROR1,receptor tyrosine kinase like orphan receptor 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,WBP2,WW domain binding protein 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,EPS8L2,EPS8 signaling adaptor L2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,SLC26A4,solute carrier family 26 member 4,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,BSND,barttin CLCNK type accessory subunit beta,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CDH23,cadherin related 23,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TECTA,tectorin alpha,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TMC1,transmembrane channel like 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TMIE,transmembrane inner ear,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TMPRSS3,transmembrane serine protease 3,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,USH1C,USH1 protein network component harmonin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,COL11A2,collagen type XI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ELMOD3,ELMO domain containing 3,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GJB2,gap junction protein beta 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GJB3,gap junction protein beta 3,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GJB6,gap junction protein beta 6,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MET,"MET proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MYO15A,myosin XVA,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MYO6,myosin VI,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MYO7A,myosin VIIA,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,OTOF,otoferlin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,PCDH15,protocadherin related 15,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,WHRN,whirlin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,STRC,stereocilin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TRIOBP,TRIO and F-actin binding protein,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,RDX,radixin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,LHFPL5,LHFPL tetraspan subfamily member 5,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ESPN,espin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ESRRB,estrogen related receptor beta,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MARVELD2,MARVEL domain containing 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MYO3A,myosin IIIA,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,SLC26A5,solute carrier family 26 member 5,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,OTOA,otoancorin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,PJVK,pejvakin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CLDN14,claudin 14,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,LRTOMT,leucine rich transmembrane and O-methyltransferase domain containing,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,HGF,hepatocyte growth factor,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,LOXHD1,lipoxygenase homology PLAT domains 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GRXCR1,glutaredoxin and cysteine rich domain containing 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TPRN,taperin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,PTPRQ,protein tyrosine phosphatase receptor type Q,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,SERPINB6,serpin family B member 6,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GPSM2,G protein signaling modulator 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MSRB3,methionine sulfoxide reductase B3,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ILDR1,immunoglobulin like domain containing receptor 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,KARS1,lysyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GIPC3,GIPC PDZ domain containing family member 3,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CIB2,calcium and integrin binding family member 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CABP2,calcium binding protein 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,OTOG,otogelin,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,PNPT1,polyribonucleotide nucleotidyltransferase 1,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,OTOGL,otogelin like,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,SYNE4,spectrin repeat containing nuclear envelope family member 4,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,SLITRK6,SLIT and NTRK like family member 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GRXCR2,glutaredoxin and cysteine rich domain containing 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,EPS8,"EGFR pathway substrate 8, signaling adaptor",Disease-causing germline mutation(s) (loss of function) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ADCY1,adenylate cyclase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CLIC5,chloride intracellular channel 5,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,RIPOR2,RHO family interacting cell polarization regulator 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,DCDC2,doublecortin domain containing 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,ATP2B2,ATPase plasma membrane Ca2+ transporting 2,Modifying germline mutation in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,S1PR2,sphingosine-1-phosphate receptor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MPZL2,myelin protein zero like 2,Disease-causing germline mutation(s) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,CDC14A,cell division cycle 14A,Disease-causing germline mutation(s) (loss of function) in,Assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,GJA1,gap junction protein alpha 1,Candidate gene tested in,Not yet assessed
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,MINAR2,membrane integral NOTCH2 associated receptor 2,Disease-causing germline mutation(s) in,Assessed
529574,Duane retraction syndrome with congenital deafness,MAFB,MAF bZIP transcription factor B,Disease-causing germline mutation(s) in,Assessed
90368,Hypotrichosis simplex of the scalp,KRT74,keratin 74,Disease-causing germline mutation(s) in,Assessed
90368,Hypotrichosis simplex of the scalp,CDSN,corneodesmosin,Disease-causing germline mutation(s) in,Assessed
90389,Telangiectasia macularis eruptiva perstans,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
90653,Stickler syndrome type 1,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
90652,Otopalatodigital syndrome type 2,FLNA,filamin A,Disease-causing germline mutation(s) (gain of function) in,Assessed
90654,Stickler syndrome type 2,COL11A1,collagen type XI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,GPAA1,glycosylphosphatidylinositol anchor attachment 1,Disease-causing germline mutation(s) in,Assessed
90647,Jervell and Lange-Nielsen syndrome,KCNE1,potassium voltage-gated channel subfamily E regulatory subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
90647,Jervell and Lange-Nielsen syndrome,KCNQ1,potassium voltage-gated channel subfamily Q member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
90650,Otopalatodigital syndrome type 1,FLNA,filamin A,Disease-causing germline mutation(s) (gain of function) in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,POU3F4,POU class 3 homeobox 4,Disease-causing germline mutation(s) in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,MT-ND4,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,Candidate gene tested in,Not yet assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,TFB1M,"transcription factor B1, mitochondrial",Modifying germline mutation in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,TRMU,tRNA mitochondrial 2-thiouridylase,Modifying germline mutation in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,MT-CO1,mitochondrially encoded cytochrome c oxidase I,Disease-causing germline mutation(s) in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,MT-RNR1,mitochondrially encoded 12S rRNA,Disease-causing germline mutation(s) in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,MT-TH,mitochondrially encoded tRNA-His (CAU/C),Disease-causing germline mutation(s) in,Assessed
90641,Rare mitochondrial non-syndromic sensorineural deafness,MT-TS1,mitochondrially encoded tRNA-Ser (UCN) 1,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,FOXE3,forkhead box E3,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,THSD4,thrombospondin type 1 domain containing 4,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,SMAD2,SMAD family member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,LOX,lysyl oxidase,Disease-causing germline mutation(s) (loss of function) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,MAT2A,methionine adenosyltransferase 2A,Candidate gene tested in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,ELN,elastin,Candidate gene tested in,Not yet assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,HEY2,hes related family bHLH transcription factor with YRPW motif 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,EFEMP2,EGF-like fibulin extracellular matrix protein 2,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,TGFB3,transforming growth factor beta 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,TGFBR1,transforming growth factor beta receptor 1,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,TGFBR2,transforming growth factor beta receptor 2,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,FBN1,fibrillin 1,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,ACTA2,"actin alpha 2, smooth muscle",Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,MYLK,myosin light chain kinase,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,SMAD3,SMAD family member 3,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,PRKG1,protein kinase cGMP-dependent 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,MFAP5,microfibril associated protein 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,TGFB2,transforming growth factor beta 2,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,SMAD4,SMAD family member 4,Disease-causing germline mutation(s) in,Assessed
91387,Familial thoracic aortic aneurysm and aortic dissection,MYH11,myosin heavy chain 11,Disease-causing germline mutation(s) in,Assessed
91411,Congenital ptosis,COL25A1,collagen type XXV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
91411,Congenital ptosis,ZFHX4,zinc finger homeobox 4,Candidate gene tested in,Not yet assessed
91496,Snowflake vitreoretinal degeneration,KCNJ13,potassium inwardly rectifying channel subfamily J member 13,Disease-causing germline mutation(s) in,Assessed
91495,Persistent hyperplastic primary vitreous,FZD4,frizzled class receptor 4,Disease-causing germline mutation(s) in,Assessed
91495,Persistent hyperplastic primary vitreous,NDP,norrin cystine knot growth factor NDP,Disease-causing germline mutation(s) in,Assessed
91495,Persistent hyperplastic primary vitreous,ATOH7,atonal bHLH transcription factor 7,Disease-causing germline mutation(s) in,Assessed
91481,Ring dermoid of cornea,PITX2,paired like homeodomain 2,Disease-causing germline mutation(s) in,Assessed
91414,Pilomatrixoma,CTNNB1,catenin beta 1,Disease-causing somatic mutation(s) in,Assessed
91490,Isolated congenital sclerocornea,GJA8,gap junction protein alpha 8,Disease-causing germline mutation(s) in,Assessed
91489,Isolated congenital megalocornea,CHRDL1,chordin like 1,Disease-causing germline mutation(s) in,Assessed
91483,Rieger anomaly,PITX2,paired like homeodomain 2,Disease-causing germline mutation(s) in,Assessed
91483,Rieger anomaly,FOXC1,forkhead box C1,Disease-causing germline mutation(s) in,Assessed
91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,SLC25A3,solute carrier family 25 member 3,Disease-causing germline mutation(s) in,Assessed
91131,DK1-CDG,DOLK,dolichol kinase,Disease-causing germline mutation(s) in,Assessed
91132,Ichthyosis-hypotrichosis syndrome,ST14,ST14 transmembrane serine protease matriptase,Disease-causing germline mutation(s) in,Assessed
90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,CYP17A1,cytochrome P450 family 17 subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,CYP11B1,cytochrome P450 family 11 subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",CYB5A,cytochrome b5 type A,Disease-causing germline mutation(s) in,Assessed
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",CYP17A1,cytochrome P450 family 17 subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
90797,Partial androgen insensitivity syndrome,AR,androgen receptor,Disease-causing germline mutation(s) in,Assessed
91347,TSH-secreting pituitary adenoma,CDH23,cadherin related 23,Major susceptibility factor in,Assessed
91352,Germinoma of the central nervous system,JMJD1C,jumonji domain containing 1C,Major susceptibility factor in,Assessed
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,GGCX,gamma-glutamyl carboxylase,Disease-causing germline mutation(s) in,Assessed
79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",KRT5,keratin 5,Disease-causing germline mutation(s) in,Assessed
79397,Epidermolysis bullosa simplex with mottled pigmentation,KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
79397,Epidermolysis bullosa simplex with mottled pigmentation,KRT5,keratin 5,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,ABCA12,ATP binding cassette subfamily A member 12,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,ALOX12B,"arachidonate 12-lipoxygenase, 12R type",Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,ALOXE3,arachidonate epidermal lipoxygenase 3,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,TGM1,transglutaminase 1,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,NIPAL4,NIPA like domain containing 4,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,PNPLA1,"patatin like domain 1, omega-hydroxyceramide transacylase",Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,CERS3,ceramide synthase 3,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,SULT2B1,sulfotransferase family 2B member 1,Disease-causing germline mutation(s) in,Assessed
79394,Congenital ichthyosiform erythroderma,SDR9C7,short chain dehydrogenase/reductase family 9C member 7,Disease-causing germline mutation(s) in,Assessed
79395,Keratoderma hereditarium mutilans with ichthyosis,LORICRIN,loricrin cornified envelope precursor protein,Disease-causing germline mutation(s) in,Assessed
79414,Woolly hair nevus,HRAS,"HRas proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",KRT5,keratin 5,Disease-causing germline mutation(s) in,Assessed
79401,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,PLEC,plectin,Disease-causing germline mutation(s) in,Assessed
79400,Localized epidermolysis bullosa simplex,KRT14,keratin 14,Disease-causing germline mutation(s) in,Assessed
79400,Localized epidermolysis bullosa simplex,KRT5,keratin 5,Disease-causing germline mutation(s) in,Assessed
79403,Junctional epidermolysis bullosa with pyloric atresia,ITGA6,integrin subunit alpha 6,Disease-causing germline mutation(s) in,Assessed
79403,Junctional epidermolysis bullosa with pyloric atresia,ITGB4,integrin subunit beta 4,Disease-causing germline mutation(s) in,Assessed
79402,Intermediate generalized junctional epidermolysis bullosa,COL17A1,collagen type XVII alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
79402,Intermediate generalized junctional epidermolysis bullosa,ITGB4,integrin subunit beta 4,Disease-causing germline mutation(s) in,Assessed
79402,Intermediate generalized junctional epidermolysis bullosa,LAMA3,laminin subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
79402,Intermediate generalized junctional epidermolysis bullosa,LAMB3,laminin subunit beta 3,Disease-causing germline mutation(s) in,Assessed
79402,Intermediate generalized junctional epidermolysis bullosa,LAMC2,laminin subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
79404,Severe generalized junctional epidermolysis bullosa,LAMB3,laminin subunit beta 3,Disease-causing germline mutation(s) in,Assessed
79404,Severe generalized junctional epidermolysis bullosa,LAMC2,laminin subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
79404,Severe generalized junctional epidermolysis bullosa,LAMA3,laminin subunit alpha 3,Disease-causing germline mutation(s) in,Assessed
79406,Late-onset junctional epidermolysis bullosa,COL17A1,collagen type XVII alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
79409,Recessive dystrophic epidermolysis bullosa inversa,COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",MMP1,matrix metallopeptidase 1,Modifying germline mutation in,Not yet assessed
79411,Self-improving dystrophic epidermolysis bullosa,COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
79410,"Localized dystrophic epidermolysis bullosa, pretibial form",COL7A1,collagen type VII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
79452,Milroy disease,FLT4,fms related receptor tyrosine kinase 4,Disease-causing germline mutation(s) in,Assessed
79455,Cutaneous mastocytoma,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
79435,Oculocutaneous albinism type 4,SLC45A2,solute carrier family 45 member 2,Disease-causing germline mutation(s) in,Assessed
79434,Oculocutaneous albinism type 1B,TYR,tyrosinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79433,Oculocutaneous albinism type 3,TYRP1,tyrosinase related protein 1,Disease-causing germline mutation(s) in,Assessed
79432,Oculocutaneous albinism type 2,OCA2,OCA2 melanosomal transmembrane protein,Disease-causing germline mutation(s) in,Assessed
79432,Oculocutaneous albinism type 2,MC1R,melanocortin 1 receptor,Modifying germline mutation in,Assessed
79431,Oculocutaneous albinism type 1A,TYR,tyrosinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79445,Pseudopseudohypoparathyroidism,GNAS,GNAS complex locus,Disease-causing germline mutation(s) (loss of function) in,Assessed
79444,Pseudohypoparathyroidism type 1C,GNAS,GNAS complex locus,Disease-causing germline mutation(s) in,Assessed
79443,Pseudohypoparathyroidism type 1A,GNAS,GNAS complex locus,Disease-causing germline mutation(s) (loss of function) in,Assessed
79483,Phakomatosis cesioflammea,GNAQ,G protein subunit alpha q,Disease-causing somatic mutation(s) in,Assessed
79483,Phakomatosis cesioflammea,GNA11,G protein subunit alpha 11,Disease-causing somatic mutation(s) in,Assessed
79484,Phakomatosis cesiomarmorata,GNA11,G protein subunit alpha 11,Disease-causing somatic mutation(s) in,Assessed
79478,Griscelli syndrome type 3,MLPH,melanophilin,Disease-causing germline mutation(s) in,Assessed
79478,Griscelli syndrome type 3,MYO5A,myosin VA,Disease-causing germline mutation(s) in,Assessed
79474,Atypical Werner syndrome,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
79477,Griscelli syndrome type 2,RAB27A,"RAB27A, member RAS oncogene family",Disease-causing germline mutation(s) in,Assessed
79476,Griscelli syndrome type 1,MYO5A,myosin VA,Disease-causing germline mutation(s) in,Assessed
79473,Variegate porphyria,PPOX,protoporphyrinogen oxidase,Disease-causing germline mutation(s) in,Assessed
79269,Sanfilippo syndrome type A,SGSH,N-sulfoglucosamine sulfohydrolase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79257,GM1 gangliosidosis type 3,GLB1,galactosidase beta 1,Disease-causing germline mutation(s) in,Assessed
79256,GM1 gangliosidosis type 2,GLB1,galactosidase beta 1,Disease-causing germline mutation(s) in,Assessed
79255,GM1 gangliosidosis type 1,GLB1,galactosidase beta 1,Disease-causing germline mutation(s) in,Assessed
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,SLC37A4,solute carrier family 37 member 4,Disease-causing germline mutation(s) in,Assessed
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,G6PC1,glucose-6-phosphatase catalytic subunit 1,Disease-causing germline mutation(s) in,Assessed
79246,Pyruvate dehydrogenase phosphatase deficiency,PDP1,pyruvate dehydrogenase phosphatase catalytic subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
79240,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,PHKB,phosphorylase kinase regulatory subunit beta,Disease-causing germline mutation(s) in,Assessed
79241,Biotinidase deficiency,BTD,biotinidase,Disease-causing germline mutation(s) in,Assessed
79239,Classic galactosemia,GALT,galactose-1-phosphate uridylyltransferase,Disease-causing germline mutation(s) in,Assessed
79244,Pyruvate dehydrogenase E2 deficiency,DLAT,dihydrolipoamide S-acetyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79242,Holocarboxylase synthetase deficiency,HLCS,holocarboxylase synthetase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79243,Pyruvate dehydrogenase E1-alpha deficiency,PDHA1,pyruvate dehydrogenase E1 subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
79243,Pyruvate dehydrogenase E1-alpha deficiency,LONP1,"lon peptidase 1, mitochondrial",Disease-causing germline mutation(s) in,Assessed
79299,Congenital glucokinase-related hyperinsulinism,GCK,glucokinase,Disease-causing germline mutation(s) in,Assessed
79301,Congenital bile acid synthesis defect type 1,HSD3B7,"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7",Disease-causing germline mutation(s) in,Assessed
79293,Familial LCAT deficiency,LCAT,lecithin-cholesterol acyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79292,Fish-eye disease,LCAT,lecithin-cholesterol acyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79278,Autosomal erythropoietic protoporphyria,FECH,ferrochelatase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,NAGA,alpha-N-acetylgalactosaminidase,Disease-causing germline mutation(s) in,Assessed
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,NAGA,alpha-N-acetylgalactosaminidase,Disease-causing germline mutation(s) in,Assessed
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,NAGA,alpha-N-acetylgalactosaminidase,Disease-causing germline mutation(s) in,Assessed
79282,"Methylmalonic acidemia with homocystinuria, type cblC",MMACHC,metabolism of cobalamin associated C,Disease-causing germline mutation(s) in,Assessed
79283,"Methylmalonic acidemia with homocystinuria, type cblD",MMADHC,metabolism of cobalamin associated D,Disease-causing germline mutation(s) in,Assessed
79284,Methylmalonic acidemia with homocystinuria type cblF,LMBRD1,LMBR1 domain containing 1,Disease-causing germline mutation(s) in,Assessed
79270,Sanfilippo syndrome type B,NAGLU,N-acetyl-alpha-glucosaminidase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79271,Sanfilippo syndrome type C,HGSNAT,heparan-alpha-glucosaminide N-acetyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79272,Sanfilippo syndrome type D,GNS,glucosamine (N-acetyl)-6-sulfatase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79273,Hereditary coproporphyria,CPOX,coproporphyrinogen oxidase,Disease-causing germline mutation(s) in,Assessed
79276,Acute intermittent porphyria,HMBS,hydroxymethylbilane synthase,Disease-causing germline mutation(s) in,Assessed
79277,Congenital erythropoietic porphyria,UROS,uroporphyrinogen III synthase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79277,Congenital erythropoietic porphyria,GATA1,GATA binding protein 1,Disease-causing germline mutation(s) in,Assessed
79333,COG7-CDG,COG7,component of oligomeric golgi complex 7,Disease-causing germline mutation(s) in,Assessed
79332,B4GALT1-CDG,B4GALT1,"beta-1,4-galactosyltransferase 1",Disease-causing germline mutation(s) in,Assessed
79330,MOGS-CDG,MOGS,mannosyl-oligosaccharide glucosidase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79329,MGAT2-CDG,MGAT2,"alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79328,ALG9-CDG,ALG9,"ALG9 alpha-1,2-mannosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79327,ALG1-CDG,ALG1,ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79326,ALG2-CDG,ALG2,"ALG2 alpha-1,3/1,6-mannosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79325,ALG8-CDG,ALG8,"ALG8 alpha-1,3-glucosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79324,ALG12-CDG,ALG12,"ALG12 alpha-1,6-mannosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79323,MPDU1-CDG,MPDU1,mannose-P-dolichol utilization defect 1,Disease-causing germline mutation(s) in,Assessed
79322,DPM1-CDG,DPM1,"dolichyl-phosphate mannosyltransferase subunit 1, catalytic",Disease-causing germline mutation(s) in,Assessed
79321,ALG3-CDG,ALG3,"ALG3 alpha-1,3- mannosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79320,ALG6-CDG,ALG6,"ALG6 alpha-1,3-glucosyltransferase",Disease-causing germline mutation(s) (loss of function) in,Assessed
79319,MPI-CDG,MPI,mannose phosphate isomerase,Disease-causing germline mutation(s) in,Assessed
79318,PMM2-CDG,PMM2,phosphomannomutase 2,Disease-causing germline mutation(s) in,Assessed
79314,L-2-hydroxyglutaric aciduria,L2HGDH,L-2-hydroxyglutarate dehydrogenase,Disease-causing germline mutation(s) in,Assessed
79315,D-2-hydroxyglutaric aciduria,D2HGDH,D-2-hydroxyglutarate dehydrogenase,Disease-causing germline mutation(s) in,Assessed
79315,D-2-hydroxyglutaric aciduria,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,MMUT,methylmalonyl-CoA mutase,Disease-causing germline mutation(s) (loss of function) in,Assessed
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,MMAA,metabolism of cobalamin associated A,Disease-causing germline mutation(s) in,Assessed
79311,Vitamin B12-responsive methylmalonic acidemia type cblB,MMAB,metabolism of cobalamin associated B,Disease-causing germline mutation(s) in,Assessed
79306,Progressive familial intrahepatic cholestasis type 1,MYO5B,myosin VB,Disease-causing germline mutation(s) in,Assessed
79306,Progressive familial intrahepatic cholestasis type 1,ATP8B1,ATPase phospholipid transporting 8B1,Disease-causing germline mutation(s) in,Assessed
79304,Progressive familial intrahepatic cholestasis type 2,ABCB11,ATP binding cassette subfamily B member 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
79305,Progressive familial intrahepatic cholestasis type 3,ABCB4,ATP binding cassette subfamily B member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
79302,Congenital bile acid synthesis defect type 3,CYP7B1,cytochrome P450 family 7 subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
79303,Congenital bile acid synthesis defect type 2,AKR1D1,aldo-keto reductase family 1 member D1,Disease-causing germline mutation(s) in,Assessed
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",PHGDH,phosphoglycerate dehydrogenase,Disease-causing germline mutation(s) in,Assessed
79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",PSPH,phosphoserine phosphatase,Disease-causing germline mutation(s) in,Assessed
79345,Brachytelephalangic chondrodysplasia punctata,ARSL,arylsulfatase L,Disease-causing germline mutation(s) in,Assessed
85191,Singleton-Merten dysplasia,IFIH1,interferon induced with helicase C domain 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
85191,Singleton-Merten dysplasia,RIGI,RNA sensor RIG-I,Disease-causing germline mutation(s) in,Assessed
85193,Idiopathic juvenile osteoporosis,WNT3A,Wnt family member 3A,Major susceptibility factor in,Assessed
85193,Idiopathic juvenile osteoporosis,DKK1,dickkopf Wnt signaling pathway inhibitor 1,Major susceptibility factor in,Assessed
85193,Idiopathic juvenile osteoporosis,WNT1,Wnt family member 1,Major susceptibility factor in,Assessed
85195,Familial expansile osteolysis,TNFRSF11A,TNF receptor superfamily member 11a,Disease-causing germline mutation(s) in,Assessed
85194,Spondylo-ocular syndrome,XYLT2,xylosyltransferase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
85199,Craniosynostosis-anal anomalies-porokeratosis syndrome,RNU12,"RNA, U12 small nuclear",Disease-causing germline mutation(s) in,Assessed
85198,Dysspondyloenchondromatosis,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
85201,Genitopatellar syndrome,KAT6B,lysine acetyltransferase 6B,Disease-causing germline mutation(s) in,Assessed
85202,Keutel syndrome,MGP,matrix Gla protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
85212,Fetal Gaucher disease,GBA1,glucosylceramidase beta 1,Disease-causing germline mutation(s) in,Assessed
85277,"X-linked intellectual disability, Cantagrel type",NEXMIF,neurite extension and migration factor,Disease-causing germline mutation(s) (loss of function) in,Assessed
85278,Christianson syndrome,SLC9A6,solute carrier family 9 member A6,Disease-causing germline mutation(s) in,Assessed
85279,KDM5C-related syndromic X-linked intellectual disability,KDM5C,lysine demethylase 5C,Disease-causing germline mutation(s) in,Assessed
85282,MEHMO syndrome,EIF2S3,eukaryotic translation initiation factor 2 subunit gamma,Disease-causing germline mutation(s) in,Assessed
85284,BRESEK syndrome,MBTPS2,"membrane bound transcription factor peptidase, site 2",Disease-causing germline mutation(s) in,Assessed
85286,"X-linked intellectual disability, Shashi type",RBMX,RNA binding motif protein X-linked,Disease-causing germline mutation(s) in,Assessed
85287,"X-linked intellectual disability, Siderius type",PHF8,PHD finger protein 8,Disease-causing germline mutation(s) in,Assessed
85288,"X-linked intellectual disability, Stocco Dos Santos type",SHROOM4,shroom family member 4,Disease-causing germline mutation(s) in,Assessed
85293,"X-linked intellectual disability, Cabezas type",CUL4B,cullin 4B,Disease-causing germline mutation(s) in,Assessed
85295,"HSD10 disease, atypical type",HSD17B10,hydroxysteroid 17-beta dehydrogenase 10,Disease-causing germline mutation(s) in,Assessed
85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,SYN1,synapsin I,Disease-causing germline mutation(s) in,Assessed
85329,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,AP1S2,adaptor related protein complex 1 subunit sigma 2,Disease-causing germline mutation(s) in,Assessed
85335,Fried syndrome,AP1S2,adaptor related protein complex 1 subunit sigma 2,Disease-causing germline mutation(s) in,Assessed
85410,Oligoarticular juvenile idiopathic arthritis,PTPN22,protein tyrosine phosphatase non-receptor type 22,Major susceptibility factor in,Assessed
85410,Oligoarticular juvenile idiopathic arthritis,STAT4,signal transducer and activator of transcription 4,Major susceptibility factor in,Assessed
85410,Oligoarticular juvenile idiopathic arthritis,IL2RA,interleukin 2 receptor subunit alpha,Major susceptibility factor in,Assessed
85410,Oligoarticular juvenile idiopathic arthritis,CD247,CD247 molecule,Major susceptibility factor in,Assessed
85410,Oligoarticular juvenile idiopathic arthritis,PTPN2,protein tyrosine phosphatase non-receptor type 2,Major susceptibility factor in,Assessed
85410,Oligoarticular juvenile idiopathic arthritis,ANKRD55,ankyrin repeat domain 55,Major susceptibility factor in,Not yet assessed
85410,Oligoarticular juvenile idiopathic arthritis,IL2RB,interleukin 2 receptor subunit beta,Major susceptibility factor in,Not yet assessed
85414,Systemic-onset juvenile idiopathic arthritis,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Not yet assessed
85414,Systemic-onset juvenile idiopathic arthritis,MIF,macrophage migration inhibitory factor,Major susceptibility factor in,Not yet assessed
85414,Systemic-onset juvenile idiopathic arthritis,IL6,interleukin 6,Major susceptibility factor in,Not yet assessed
85414,Systemic-onset juvenile idiopathic arthritis,LACC1,laccase domain containing 1,Disease-causing germline mutation(s) in,Assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,PTPN22,protein tyrosine phosphatase non-receptor type 22,Major susceptibility factor in,Assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,STAT4,signal transducer and activator of transcription 4,Major susceptibility factor in,Assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,IL2RA,interleukin 2 receptor subunit alpha,Major susceptibility factor in,Assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,CD247,CD247 molecule,Major susceptibility factor in,Assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,PTPN2,protein tyrosine phosphatase non-receptor type 2,Major susceptibility factor in,Assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,ANKRD55,ankyrin repeat domain 55,Major susceptibility factor in,Not yet assessed
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,IL2RB,interleukin 2 receptor subunit beta,Major susceptibility factor in,Not yet assessed
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,LHX4,LIM homeobox 4,Disease-causing germline mutation(s) in,Assessed
85445,AA amyloidosis,SAA1,serum amyloid A1,Major susceptibility factor in,Assessed
85453,X-linked reticulate pigmentary disorder,POLA1,"DNA polymerase alpha 1, catalytic subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
86788,X-linked severe congenital neutropenia,WAS,WASP actin nucleation promoting factor,Disease-causing germline mutation(s) in,Assessed
86309,DPAGT1-CDG,DPAGT1,dolichyl-phosphate N-acetylglucosaminephosphotransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
85448,AGel amyloidosis,GSN,gelsolin,Disease-causing germline mutation(s) in,Assessed
85447,ATTRV30M amyloidosis,TTR,transthyretin,Disease-causing germline mutation(s) in,Assessed
85451,ATTRV122I amyloidosis,TTR,transthyretin,Disease-causing germline mutation(s) in,Assessed
86812,POMT1-related limb-girdle muscular dystrophy R11,POMT1,protein O-mannosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
86813,Helicoid peripapillary chorioretinal degeneration,TEAD1,TEA domain transcription factor 1,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,SAMD12,sterile alpha motif domain containing 12,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,TNRC6A,trinucleotide repeat containing adaptor 6A,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,RAPGEF2,Rap guanine nucleotide exchange factor 2,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,YEATS2,YEATS domain containing 2,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,CTNND2,catenin delta 2,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,CNTN2,contactin 2,Disease-causing germline mutation(s) in,Assessed
86814,Familial adult myoclonic epilepsy,ADRA2B,adrenoceptor alpha 2B,Disease-causing germline mutation(s) (gain of function) in,Assessed
86814,Familial adult myoclonic epilepsy,MARCHF6,membrane associated ring-CH-type finger 6,Disease-causing germline mutation(s) in,Assessed
86815,Aplasia of lacrimal and salivary glands,FGF10,fibroblast growth factor 10,Disease-causing germline mutation(s) in,Assessed
86820,Familial avascular necrosis of femoral head,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
86820,Familial avascular necrosis of femoral head,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
86816,Congenital analbuminemia,ALB,albumin,Disease-causing germline mutation(s) in,Assessed
512017,Chronic lymphoproliferative disorder of natural killer cells,STAT3,signal transducer and activator of transcription 3,Disease-causing germline mutation(s) in,Assessed
86817,Hemolytic anemia due to adenylate kinase deficiency,AK1,adenylate kinase 1,Disease-causing germline mutation(s) in,Assessed
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,KCNE5,potassium voltage-gated channel subfamily E regulatory subunit 5,Role in the phenotype of,Assessed
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,ACSL4,acyl-CoA synthetase long chain family member 4,Role in the phenotype of,Assessed
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,AMMECR1,AMMECR nuclear protein 1,Role in the phenotype of,Assessed
86819,Atrichia with papular lesions,HR,HR lysine demethylase and nuclear receptor corepressor,Disease-causing germline mutation(s) in,Assessed
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,RPS14,ribosomal protein S14,Role in the phenotype of,Assessed
512103,Autosomal recessive epidermolytic ichthyosis,KRT10,keratin 10,Disease-causing germline mutation(s) in,Assessed
86834,Juvenile myelomonocytic leukemia,RRAS,RAS related,Candidate gene tested in,Not yet assessed
86834,Juvenile myelomonocytic leukemia,PTPN11,protein tyrosine phosphatase non-receptor type 11,Disease-causing somatic mutation(s) in,Assessed
86834,Juvenile myelomonocytic leukemia,KRAS,"KRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
86834,Juvenile myelomonocytic leukemia,NF1,neurofibromin 1,Disease-causing somatic mutation(s) in,Assessed
86834,Juvenile myelomonocytic leukemia,NRAS,"NRAS proto-oncogene, GTPase",Disease-causing somatic mutation(s) in,Assessed
86834,Juvenile myelomonocytic leukemia,CBL,Cbl proto-oncogene,Major susceptibility factor in,Not yet assessed
86830,"Chronic myeloproliferative disease, unclassifiable",PDGFRB,platelet derived growth factor receptor beta,Part of a fusion gene in,Assessed
86829,Chronic neutrophilic leukemia,CSF3R,colony stimulating factor 3 receptor,Disease-causing somatic mutation(s) in,Assessed
512260,Congenital cerebellar ataxia due to RNU12 mutation,RNU12,"RNA, U12 small nuclear",Disease-causing germline mutation(s) in,Assessed
86849,Acute basophilic leukemia,MYB,"MYB proto-oncogene, transcription factor",Part of a fusion gene in,Assessed
86849,Acute basophilic leukemia,GATA1,GATA binding protein 1,Part of a fusion gene in,Assessed
86845,Acute myeloid leukaemia with myelodysplasia-related features,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Not yet assessed
86845,Acute myeloid leukaemia with myelodysplasia-related features,IDH1,isocitrate dehydrogenase (NADP(+)) 1,Disease-causing somatic mutation(s) in,Assessed
86845,Acute myeloid leukaemia with myelodysplasia-related features,IDH2,isocitrate dehydrogenase (NADP(+)) 2,Disease-causing somatic mutation(s) in,Assessed
86845,Acute myeloid leukaemia with myelodysplasia-related features,ASXL1,ASXL transcriptional regulator 1,Disease-causing somatic mutation(s) in,Assessed
86845,Acute myeloid leukaemia with myelodysplasia-related features,DNMT3A,DNA methyltransferase 3 alpha,Disease-causing somatic mutation(s) in,Assessed
86872,T-cell large granular lymphocyte leukemia,STAT3,signal transducer and activator of transcription 3,Disease-causing somatic mutation(s) in,Assessed
86884,Subcutaneous panniculitis-like T-cell lymphoma,HAVCR2,hepatitis A virus cellular receptor 2,Disease-causing germline mutation(s) in,Assessed
79503,Ichthyosis hystrix of Curth-Macklin,KRT1,keratin 1,Disease-causing germline mutation(s) in,Assessed
79495,X-linked congenital generalized hypertrichosis,SOX3,SRY-box transcription factor 3,Disease-causing germline mutation(s) in,Assessed
79499,Autosomal dominant deafness-onychodystrophy syndrome,ATP6V1B2,ATPase H+ transporting V1 subunit B2,Disease-causing germline mutation(s) in,Assessed
79500,DOORS syndrome,ATP6V1B2,ATPase H+ transporting V1 subunit B2,Disease-causing germline mutation(s) in,Assessed
79500,DOORS syndrome,TBC1D24,TBC1 domain family member 24,Disease-causing germline mutation(s) in,Assessed
79501,Punctate palmoplantar keratoderma type 1,COL14A1,collagen type XIV alpha 1 chain,Candidate gene tested in,Not yet assessed
79501,Punctate palmoplantar keratoderma type 1,AAGAB,alpha and gamma adaptin binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
79643,Autosomal recessive hyperinsulinism due to SUR1 deficiency,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
79644,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) in,Assessed
83330,Proximal spinal muscular atrophy type 1,SMN2,"survival of motor neuron 2, centromeric",Modifying germline mutation in,Assessed
83330,Proximal spinal muscular atrophy type 1,NAIP,NLR family apoptosis inhibitory protein,Modifying germline mutation in,Assessed
83330,Proximal spinal muscular atrophy type 1,SMN1,"survival of motor neuron 1, telomeric",Disease-causing germline mutation(s) in,Assessed
83419,Proximal spinal muscular atrophy type 3,SMN2,"survival of motor neuron 2, centromeric",Modifying germline mutation in,Assessed
83419,Proximal spinal muscular atrophy type 3,NAIP,NLR family apoptosis inhibitory protein,Modifying germline mutation in,Assessed
83419,Proximal spinal muscular atrophy type 3,SMN1,"survival of motor neuron 1, telomeric",Disease-causing germline mutation(s) in,Assessed
83420,Proximal spinal muscular atrophy type 4,SMN2,"survival of motor neuron 2, centromeric",Modifying germline mutation in,Assessed
83420,Proximal spinal muscular atrophy type 4,SMN1,"survival of motor neuron 1, telomeric",Disease-causing germline mutation(s) in,Assessed
83418,Proximal spinal muscular atrophy type 2,SMN2,"survival of motor neuron 2, centromeric",Modifying germline mutation in,Assessed
83418,Proximal spinal muscular atrophy type 2,NAIP,NLR family apoptosis inhibitory protein,Modifying germline mutation in,Assessed
83418,Proximal spinal muscular atrophy type 2,SMN1,"survival of motor neuron 1, telomeric",Disease-causing germline mutation(s) in,Assessed
83469,Desmoplastic small round cell tumor,WT1,WT1 transcription factor,Part of a fusion gene in,Assessed
83469,Desmoplastic small round cell tumor,EWSR1,EWS RNA binding protein 1,Part of a fusion gene in,Assessed
83465,Narcolepsy type 2,HCRT,hypocretin neuropeptide precursor,Candidate gene tested in,Not yet assessed
83465,Narcolepsy type 2,HLA-DRB1,"major histocompatibility complex, class II, DR beta 1",Major susceptibility factor in,Assessed
83465,Narcolepsy type 2,HLA-DQB1,"major histocompatibility complex, class II, DQ beta 1",Major susceptibility factor in,Assessed
83465,Narcolepsy type 2,ZNF365,zinc finger protein 365,Major susceptibility factor in,Assessed
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,PIK3R2,phosphoinositide-3-kinase regulatory subunit 2,Disease-causing germline mutation(s) in,Assessed
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,PIK3R2,phosphoinositide-3-kinase regulatory subunit 2,Disease-causing somatic mutation(s) in,Assessed
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,CCND2,cyclin D2,Disease-causing germline mutation(s) (gain of function) in,Assessed
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,AKT3,AKT serine/threonine kinase 3,Disease-causing germline mutation(s) in,Assessed
83472,CAMOS syndrome,ZNF592,zinc finger protein 592,Candidate gene tested in,Not yet assessed
83472,CAMOS syndrome,WDR73,WD repeat domain 73,Disease-causing germline mutation(s) in,Assessed
83471,T-cell immunodeficiency with thymic aplasia,FOXN1,forkhead box N1,Disease-causing germline mutation(s) in,Not yet assessed
83463,Microtia,HOXA2,homeobox A2,Disease-causing germline mutation(s) in,Assessed
83461,Congenital primary aphakia,FOXE3,forkhead box E3,Disease-causing germline mutation(s) in,Assessed
83454,Glomuvenous malformation,GLMN,"glomulin, FKBP associated protein",Disease-causing germline mutation(s) in,Assessed
83620,Enteric anendocrinosis,NEUROG3,neurogenin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
84081,Senior-Boichis syndrome,DCDC2,doublecortin domain containing 2,Disease-causing germline mutation(s) in,Assessed
84081,Senior-Boichis syndrome,TMEM67,transmembrane protein 67,Disease-causing germline mutation(s) in,Assessed
84090,Fibronectin glomerulopathy,FN1,fibronectin 1,Disease-causing germline mutation(s) in,Assessed
84064,Trichohepatoenteric syndrome,SKIC3,SKI3 subunit of superkiller complex,Disease-causing germline mutation(s) in,Assessed
84064,Trichohepatoenteric syndrome,SKIC2,SKI2 subunit of superkiller complex,Disease-causing germline mutation(s) in,Assessed
513436,Autosomal recessive spastic paraplegia type 78,ATP13A2,ATPase cation transporting 13A2,Disease-causing germline mutation(s) in,Assessed
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,PIGM,phosphatidylinositol glycan anchor biosynthesis class M,Disease-causing germline mutation(s) in,Assessed
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,PIGW,phosphatidylinositol glycan anchor biosynthesis class W,Disease-causing germline mutation(s) in,Assessed
83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,AIFM1,apoptosis inducing factor mitochondria associated 1,Disease-causing germline mutation(s) in,Assessed
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,WDR26,WD repeat domain 26,Disease-causing germline mutation(s) (loss of function) in,Assessed
83642,Microcytic anemia with liver iron overload,SLC11A2,solute carrier family 11 member 2,Disease-causing germline mutation(s) in,Assessed
85163,Hypomyelination-congenital cataract syndrome,HYCC1,hyccin PI4KA lipid kinase complex subunit 1,Disease-causing germline mutation(s) in,Assessed
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",DES,desmin,Disease-causing germline mutation(s) in,Assessed
85128,Bothnia retinal dystrophy,RLBP1,retinaldehyde binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
85136,Cystic leukoencephalopathy without megalencephaly,NDUFA2,NADH:ubiquinone oxidoreductase subunit A2,Disease-causing germline mutation(s) (loss of function) in,Assessed
85136,Cystic leukoencephalopathy without megalencephaly,RNASET2,ribonuclease T2,Disease-causing germline mutation(s) in,Assessed
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,RSPO1,R-spondin 1,Disease-causing germline mutation(s) in,Assessed
84132,Desmin-related myopathy with Mallory body-like inclusions,SELENON,selenoprotein N,Disease-causing germline mutation(s) in,Assessed
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,POLR3B,RNA polymerase III subunit B,Disease-causing germline mutation(s) in,Assessed
85182,Diaphyseal medullary stenosis-bone malignancy syndrome,MTAP,methylthioadenosine phosphorylase,Disease-causing germline mutation(s) in,Assessed
85179,Infantile osteopetrosis with neuroaxonal dysplasia,OSTM1,osteoclastogenesis associated transmembrane protein 1,Disease-causing germline mutation(s) in,Assessed
85173,IMAGe syndrome,CDKN1C,cyclin dependent kinase inhibitor 1C,Disease-causing germline mutation(s) in,Assessed
85173,IMAGe syndrome,POLE,"DNA polymerase epsilon, catalytic subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",COG4,component of oligomeric golgi complex 4,Disease-causing germline mutation(s) in,Assessed
85169,Familial digital arthropathy-brachydactyly,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,PCYT1A,"phosphate cytidylyltransferase 1A, choline",Disease-causing germline mutation(s) (loss of function) in,Assessed
85166,"Platyspondylic dysplasia, Torrance type",COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,FGFR3,fibroblast growth factor receptor 3,Disease-causing germline mutation(s) in,Assessed
603448,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,VPS4A,vacuolar protein sorting 4 homolog A,Disease-causing germline mutation(s) (loss of function) in,Assessed
603689,KLHL7-related Bohring-Opitz-like syndrome,KLHL7,kelch like family member 7,Disease-causing germline mutation(s) in,Assessed
603684,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,KLHL7,kelch like family member 7,Disease-causing germline mutation(s) in,Assessed
603694,KLHL7-related Crisponi/cold-induced sweating-like syndrome,KLHL7,kelch like family member 7,Disease-causing germline mutation(s) in,Assessed
610573,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,CLCN6,chloride voltage-gated channel 6,Disease-causing germline mutation(s) in,Assessed
610569,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,BLTP1,bridge-like lipid transfer protein family member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
611201,Oculogastrointestinal-neurodevelopmental syndrome,CAPN15,calpain 15,Disease-causing germline mutation(s) in,Assessed
600668,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,CCNK,cyclin K,Disease-causing germline mutation(s) in,Assessed
600663,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,NRXN1,neurexin 1,Disease-causing germline mutation(s) in,Assessed
97244,Rigid spine syndrome,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
97244,Rigid spine syndrome,SELENON,selenoprotein N,Disease-causing germline mutation(s) in,Assessed
97249,Pontocerebellar hypoplasia type 3,PCLO,piccolo presynaptic cytomatrix protein,Disease-causing germline mutation(s) in,Assessed
97279,Insulinoma,YY1,YY1 transcription factor,Disease-causing somatic mutation(s) in,Assessed
97279,Insulinoma,MEN1,menin 1,Major susceptibility factor in,Assessed
97286,Carney-Stratakis syndrome,SDHA,succinate dehydrogenase complex flavoprotein subunit A,Disease-causing germline mutation(s) in,Assessed
97286,Carney-Stratakis syndrome,SDHB,succinate dehydrogenase complex iron sulfur subunit B,Disease-causing germline mutation(s) (loss of function) in,Assessed
97286,Carney-Stratakis syndrome,SDHC,succinate dehydrogenase complex subunit C,Disease-causing germline mutation(s) (loss of function) in,Assessed
97286,Carney-Stratakis syndrome,SDHD,succinate dehydrogenase complex subunit D,Disease-causing germline mutation(s) (loss of function) in,Assessed
97297,Bohring-Opitz syndrome,ASXL1,ASXL transcriptional regulator 1,Disease-causing germline mutation(s) in,Assessed
97338,Melanoma of soft tissue,EWSR1,EWS RNA binding protein 1,Part of a fusion gene in,Assessed
97338,Melanoma of soft tissue,ATF1,activating transcription factor 1,Part of a fusion gene in,Assessed
97338,Melanoma of soft tissue,CREB1,cAMP responsive element binding protein 1,Part of a fusion gene in,Assessed
97346,ADan amyloidosis,ITM2B,integral membrane protein 2B,Disease-causing germline mutation(s) in,Assessed
97345,ABri amyloidosis,ITM2B,integral membrane protein 2B,Disease-causing germline mutation(s) in,Assessed
97362,"Renal hypoplasia, bilateral",PAX2,paired box 2,Major susceptibility factor in,Assessed
97362,"Renal hypoplasia, bilateral",PBX1,PBX homeobox 1,Role in the phenotype of,Assessed
97363,Unilateral multicystic dysplastic kidney,HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) in,Assessed
97364,Bilateral multicystic dysplastic kidney,HNF1B,HNF1 homeobox B,Disease-causing germline mutation(s) in,Assessed
97369,Renal tubular dysgenesis of genetic origin,ACE,angiotensin I converting enzyme,Disease-causing germline mutation(s) in,Assessed
97369,Renal tubular dysgenesis of genetic origin,AGT,angiotensinogen,Disease-causing germline mutation(s) in,Assessed
97369,Renal tubular dysgenesis of genetic origin,REN,renin,Disease-causing germline mutation(s) in,Assessed
97369,Renal tubular dysgenesis of genetic origin,AGTR1,angiotensin II receptor type 1,Disease-causing germline mutation(s) in,Assessed
97548,Right isomerism,GDF1,growth differentiation factor 1,Disease-causing germline mutation(s) in,Assessed
96182,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,GRB10,growth factor receptor bound protein 10,Candidate gene tested in,Assessed
96191,Paternal uniparental disomy of chromosome 6 syndrome,HYMAI,hydatidiform mole associated and imprinted,Role in the phenotype of,Not yet assessed
96191,Paternal uniparental disomy of chromosome 6 syndrome,PLAGL1,PLAG1 like zinc finger 1,Role in the phenotype of,Not yet assessed
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,MEG3,maternally expressed 3,Role in the phenotype of,Assessed
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,DLK1,delta like non-canonical Notch ligand 1,Role in the phenotype of,Assessed
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,RTL1,retrotransposon Gag like 1,Role in the phenotype of,Assessed
96253,Cushing disease,CDH23,cadherin related 23,Major susceptibility factor in,Assessed
96253,Cushing disease,USP48,ubiquitin specific peptidase 48,Disease-causing somatic mutation(s) in,Assessed
96253,Cushing disease,BRAF,"B-Raf proto-oncogene, serine/threonine kinase",Disease-causing somatic mutation(s) in,Assessed
96253,Cushing disease,USP8,ubiquitin specific peptidase 8,Disease-causing somatic mutation(s) in,Assessed
96253,Cushing disease,NR3C1,nuclear receptor subfamily 3 group C member 1,Disease-causing somatic mutation(s) in,Assessed
96253,Cushing disease,TP53,tumor protein p53,Disease-causing somatic mutation(s) in,Assessed
96253,Cushing disease,ATRX,ATRX chromatin remodeler,Disease-causing somatic mutation(s) in,Assessed
96266,Leydig cell hypoplasia due to partial LH resistance,LHCGR,luteinizing hormone/choriogonadotropin receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
96265,Leydig cell hypoplasia due to complete LH resistance,LHCGR,luteinizing hormone/choriogonadotropin receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,MEG3,maternally expressed 3,Role in the phenotype of,Assessed
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,DLK1,delta like non-canonical Notch ligand 1,Role in the phenotype of,Assessed
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,RTL1,retrotransposon Gag like 1,Role in the phenotype of,Assessed
97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,PGAM2,phosphoglycerate mutase 2,Disease-causing germline mutation(s) in,Assessed
97238,Rippling muscle disease,CAV3,caveolin 3,Disease-causing germline mutation(s) in,Assessed
97239,Reducing body myopathy,FHL1,four and a half LIM domains 1,Disease-causing germline mutation(s) in,Assessed
97240,Zebra body myopathy,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
600194,Factor V Atlanta bleeding disorder,F5,coagulation factor V,Disease-causing germline mutation(s) in,Assessed
97685,17q11 microdeletion syndrome,NF1,neurofibromin 1,Role in the phenotype of,Assessed
95706,Non-syndromic posterior hypospadias,AR,androgen receptor,Candidate gene tested in,Not yet assessed
95706,Non-syndromic posterior hypospadias,MAMLD1,mastermind like domain containing 1,Disease-causing germline mutation(s) in,Assessed
95702,X-linked adrenal hypoplasia congenita,NR0B1,nuclear receptor subfamily 0 group B member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
95716,Familial thyroid dyshormonogenesis,SLC5A5,solute carrier family 5 member 5,Disease-causing germline mutation(s) in,Assessed
95716,Familial thyroid dyshormonogenesis,TPO,thyroid peroxidase,Disease-causing germline mutation(s) in,Assessed
95716,Familial thyroid dyshormonogenesis,DUOX2,dual oxidase 2,Disease-causing germline mutation(s) in,Assessed
95716,Familial thyroid dyshormonogenesis,DUOXA2,dual oxidase maturation factor 2,Disease-causing germline mutation(s) in,Assessed
95716,Familial thyroid dyshormonogenesis,TG,thyroglobulin,Disease-causing germline mutation(s) in,Assessed
95716,Familial thyroid dyshormonogenesis,IYD,iodotyrosine deiodinase,Disease-causing germline mutation(s) in,Assessed
95713,Athyreosis,FOXE1,forkhead box E1,Candidate gene tested in,Not yet assessed
95713,Athyreosis,NKX2-1,NK2 homeobox 1,Candidate gene tested in,Not yet assessed
95713,Athyreosis,SLC26A4,solute carrier family 26 member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
95713,Athyreosis,TSHR,thyroid stimulating hormone receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
95713,Athyreosis,NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) in,Assessed
95713,Athyreosis,PAX8,paired box 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
95712,Thyroid ectopia,NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) in,Assessed
95712,Thyroid ectopia,PAX8,paired box 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,POR,cytochrome p450 oxidoreductase,Disease-causing germline mutation(s) in,Assessed
95496,Pituitary stalk interruption syndrome,WDR11,WD repeat domain 11,Candidate gene tested in,Assessed
95496,Pituitary stalk interruption syndrome,ROBO1,roundabout guidance receptor 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
95496,Pituitary stalk interruption syndrome,PROKR2,prokineticin receptor 2,Candidate gene tested in,Assessed
95496,Pituitary stalk interruption syndrome,HESX1,HESX homeobox 1,Disease-causing germline mutation(s) in,Assessed
95496,Pituitary stalk interruption syndrome,LHX4,LIM homeobox 4,Disease-causing germline mutation(s) in,Assessed
95496,Pituitary stalk interruption syndrome,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
95496,Pituitary stalk interruption syndrome,GPR161,G protein-coupled receptor 161,Disease-causing germline mutation(s) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",FOXA2,forkhead box A2,Disease-causing germline mutation(s) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",POU1F1,POU class 1 homeobox 1,Disease-causing germline mutation(s) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",PROP1,PROP paired-like homeobox 1,Disease-causing germline mutation(s) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",HESX1,HESX homeobox 1,Disease-causing germline mutation(s) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",OTX2,orthodenticle homeobox 2,Disease-causing germline mutation(s) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",LHX4,LIM homeobox 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
95494,"Combined pituitary hormone deficiencies, genetic forms",GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,PEX6,peroxisomal biogenesis factor 6,Disease-causing germline mutation(s) in,Assessed
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,VPS41,VPS41 subunit of HOPS complex,Disease-causing germline mutation(s) in,Assessed
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,VPS13D,vacuolar protein sorting 13 homolog D,Disease-causing germline mutation(s) in,Assessed
95232,Lissencephaly due to LIS1 mutation,PAFAH1B1,platelet activating factor acetylhydrolase 1b regulatory subunit 1,Disease-causing germline mutation(s) in,Assessed
95159,Hepatoerythropoietic porphyria,UROD,uroporphyrinogen decarboxylase,Disease-causing germline mutation(s) in,Assessed
95428,COG8-CDG,COG8,component of oligomeric golgi complex 8,Disease-causing germline mutation(s) in,Assessed
94122,"Cerebellar ataxia, Cayman type",ATCAY,ATCAY kinesin light chain interacting caytaxin,Disease-causing germline mutation(s) in,Assessed
94124,Spinocerebellar ataxia with axonal neuropathy type 1,TDP1,tyrosyl-DNA phosphodiesterase 1,Disease-causing germline mutation(s) in,Assessed
94125,Recessive mitochondrial ataxia syndrome,POLG,"DNA polymerase gamma, catalytic subunit",Disease-causing germline mutation(s) in,Assessed
94147,Spinocerebellar ataxia type 7,ATXN7,ataxin 7,Disease-causing germline mutation(s) in,Assessed
94150,Anonychia congenita totalis,RSPO4,R-spondin 4,Disease-causing germline mutation(s) in,Assessed
94064,Deafness-infertility syndrome,CATSPER2,cation channel sperm associated 2,Role in the phenotype of,Assessed
94064,Deafness-infertility syndrome,STRC,stereocilin,Role in the phenotype of,Assessed
94063,12q14 microdeletion syndrome,LEMD3,LEM domain containing 3,Role in the phenotype of,Assessed
94063,12q14 microdeletion syndrome,HMGA2,high mobility group AT-hook 2,Role in the phenotype of,Assessed
94065,15q24 microdeletion syndrome,SIN3A,SIN3 transcription regulator family member A,Role in the phenotype of,Assessed
94068,Spondyloepiphyseal dysplasia congenita,COL2A1,collagen type II alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
94083,Partington syndrome,ARX,aristaless related homeobox,Disease-causing germline mutation(s) in,Assessed
94088,Hereditary renal hypouricemia,SLC22A12,solute carrier family 22 member 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
94088,Hereditary renal hypouricemia,SLC2A9,solute carrier family 2 member 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
94089,Pseudohypoparathyroidism type 1B,GNAS,GNAS complex locus,Disease-causing germline mutation(s) in,Assessed
94089,Pseudohypoparathyroidism type 1B,STX16,syntaxin 16,Disease-causing germline mutation(s) in,Assessed
96148,Distal deletion 10q syndrome,EBF3,EBF transcription factor 3,Role in the phenotype of,Assessed
96147,Kleefstra syndrome due to 9q34 microdeletion,EHMT1,euchromatic histone lysine methyltransferase 1,Role in the phenotype of,Assessed
95720,Thyroid hypoplasia,SLC26A4,solute carrier family 26 member 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
95720,Thyroid hypoplasia,TSHR,thyroid stimulating hormone receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
95720,Thyroid hypoplasia,PAX8,paired box 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
597623,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,IRF2BPL,interferon regulatory factor 2 binding protein like,Disease-causing germline mutation(s) in,Assessed
597733,Oculocutaneous albinism type 8,DCT,dopachrome tautomerase,Disease-causing germline mutation(s) in,Assessed
597738,Luscan-Lumish syndrome,SETD2,"SET domain containing 2, histone lysine methyltransferase",Disease-causing germline mutation(s) in,Assessed
597887,ALPI-related inflammatory bowel disease,ALPI,"alkaline phosphatase, intestinal",Disease-causing germline mutation(s) (loss of function) in,Assessed
597939,Euthyroid dysprealbuminemic hyperthyroxinemia,TTR,transthyretin,Disease-causing germline mutation(s) in,Assessed
597743,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,SETD2,"SET domain containing 2, histone lysine methyltransferase",Disease-causing germline mutation(s) in,Assessed
93552,Pediatric systemic lupus erythematosus,SAT1,spermidine/spermine N1-acetyltransferase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
93552,Pediatric systemic lupus erythematosus,STAT4,signal transducer and activator of transcription 4,Major susceptibility factor in,Assessed
93552,Pediatric systemic lupus erythematosus,SPP1,secreted phosphoprotein 1,Major susceptibility factor in,Not yet assessed
93552,Pediatric systemic lupus erythematosus,IRAK1,interleukin 1 receptor associated kinase 1,Major susceptibility factor in,Assessed
597874,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,MTHFS,methenyltetrahydrofolate synthetase,Disease-causing germline mutation(s) in,Assessed
93562,AFib amyloidosis,FGA,fibrinogen alpha chain,Disease-causing germline mutation(s) in,Assessed
598603,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,KCNK4,potassium two pore domain channel subfamily K member 4,Disease-causing germline mutation(s) in,Assessed
598164,FOXG1 syndrome due to intragenic alteration,FOXG1,forkhead box G1,Disease-causing germline mutation(s) (loss of function) in,Assessed
93560,AApoAI amyloidosis,APOA1,apolipoprotein A1,Disease-causing germline mutation(s) in,Assessed
93561,ALys amyloidosis,LYZ,lysozyme,Disease-causing germline mutation(s) in,Assessed
93571,Dense deposit disease,CFH,complement factor H,Disease-causing germline mutation(s) in,Assessed
93571,Dense deposit disease,CFHR1,complement factor H related 1,Disease-causing germline mutation(s) in,Assessed
597201,TRIM22-related inflammatory bowel disease,TRIM22,tripartite motif containing 22,Disease-causing germline mutation(s) in,Assessed
93474,Scheie syndrome,IDUA,alpha-L-iduronidase,Disease-causing germline mutation(s) in,Assessed
93476,Hurler-Scheie syndrome,IDUA,alpha-L-iduronidase,Disease-causing germline mutation(s) in,Assessed
93473,Hurler syndrome,IDUA,alpha-L-iduronidase,Disease-causing germline mutation(s) in,Assessed
93399,Juvenile sialidosis type 2,NEU1,neuraminidase 1,Disease-causing germline mutation(s) in,Assessed
93400,Congenital sialidosis type 2,NEU1,neuraminidase 1,Disease-causing germline mutation(s) in,Assessed
599373,STXBP1-related encephalopathy,STXBP1,syntaxin binding protein 1,Disease-causing germline mutation(s) in,Assessed
599376,Hypomyelination of early myelinating structures,PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
93405,Syndactyly type 4,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93405,Syndactyly type 4,LMBR1,limb development membrane protein 1,Disease-causing germline mutation(s) in,Assessed
599418,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,ANGPT1,angiopoietin 1,Disease-causing germline mutation(s) in,Assessed
599418,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,MYOF,myoferlin,Disease-causing germline mutation(s) in,Assessed
599418,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,KNG1,kininogen 1,Disease-causing germline mutation(s) in,Assessed
599418,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,HS3ST6,heparan sulfate-glucosamine 3-sulfotransferase 6,Disease-causing germline mutation(s) in,Assessed
93404,Syndactyly type 3,GJA1,gap junction protein alpha 1,Disease-causing germline mutation(s) in,Assessed
93406,Syndactyly type 5,HOXD13,homeobox D13,Disease-causing germline mutation(s) in,Assessed
93409,"Brachydactyly-syndactyly, Zhao type",HOXD13,homeobox D13,Disease-causing germline mutation(s) in,Assessed
599579,Factor V Amsterdam bleeding disorder,F5,coagulation factor V,Disease-causing germline mutation(s) (gain of function) in,Assessed
93360,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",KIF22,kinesin family member 22,Disease-causing germline mutation(s) in,Assessed
93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,DDR2,discoidin domain receptor tyrosine kinase 2,Disease-causing germline mutation(s) in,Assessed
93357,SPONASTRIME dysplasia,TONSL,"tonsoku like, DNA repair protein",Disease-causing germline mutation(s) (loss of function) in,Assessed
599082,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,CHD3,chromodomain helicase DNA binding protein 3,Disease-causing germline mutation(s) in,Assessed
93372,Familial hypocalciuric hypercalcemia type 1,CASR,calcium sensing receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
93387,Brachydactyly type E,HOXD13,homeobox D13,Disease-causing germline mutation(s) in,Assessed
93387,Brachydactyly type E,PTHLH,parathyroid hormone like hormone,Disease-causing germline mutation(s) (loss of function) in,Assessed
93388,Brachydactyly type A1,BMPR1B,bone morphogenetic protein receptor type 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
93388,Brachydactyly type A1,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
93388,Brachydactyly type A1,IHH,Indian hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93384,Brachydactyly type C,BMPR1B,bone morphogenetic protein receptor type 1B,Candidate gene tested in,Not yet assessed
93384,Brachydactyly type C,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
93396,Brachydactyly type A2,BMP2,bone morphogenetic protein 2,Disease-causing germline mutation(s) in,Assessed
93396,Brachydactyly type A2,GDF5,growth differentiation factor 5,Disease-causing germline mutation(s) in,Assessed
93396,Brachydactyly type A2,BMPR1B,bone morphogenetic protein receptor type 1B,Disease-causing germline mutation(s) in,Assessed
93932,FG syndrome type 1,MED12,mediator complex subunit 12,Disease-causing germline mutation(s) in,Assessed
93930,Classic bladder exstrophy,TP63,tumor protein p63,Major susceptibility factor in,Assessed
93930,Classic bladder exstrophy,ISL1,ISL LIM homeobox 1,Major susceptibility factor in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,STIL,STIL centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,PTCH1,patched 1,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,SIX3,SIX homeobox 3,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,TGIF1,TGFB induced factor homeobox 1,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,ZIC2,Zic family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,CRIPTO,"cripto, EGF-CFC family member",Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,FOXH1,forkhead box H1,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,DISP1,dispatched RND transporter family member 1,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
93926,Midline interhemispheric variant of holoprosencephaly,GAS1,growth arrest specific 1,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,STIL,STIL centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,FGFR1,fibroblast growth factor receptor 1,Candidate gene tested in,Not yet assessed
93924,Lobar holoprosencephaly,PTCH1,patched 1,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,SIX3,SIX homeobox 3,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,TGIF1,TGFB induced factor homeobox 1,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,ZIC2,Zic family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,CRIPTO,"cripto, EGF-CFC family member",Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,FOXH1,forkhead box H1,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,DISP1,dispatched RND transporter family member 1,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
93924,Lobar holoprosencephaly,GAS1,growth arrest specific 1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,STIL,STIL centriolar assembly protein,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,PLCH1,phospholipase C eta 1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,STAG2,STAG2 cohesin complex component,Disease-causing germline mutation(s) (loss of function) in,Assessed
93925,Alobar holoprosencephaly,PTCH1,patched 1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,SIX3,SIX homeobox 3,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,TGIF1,TGFB induced factor homeobox 1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,ZIC2,Zic family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,GLI2,GLI family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,CRIPTO,"cripto, EGF-CFC family member",Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,FOXH1,forkhead box H1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,FGF8,fibroblast growth factor 8,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,DISP1,dispatched RND transporter family member 1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,CDON,"cell adhesion associated, oncogene regulated",Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,DLL1,delta like canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
93925,Alobar holoprosencephaly,GAS1,growth arrest specific 1,Disease-causing germline mutation(s) in,Assessed
93921,Full schwannomatosis,NF2,"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",Candidate gene tested in,Not yet assessed
93921,Full schwannomatosis,SMARCB1,SWI/SNF related BAF chromatin remodeling complex subunit B1,Disease-causing germline mutation(s) in,Assessed
93921,Full schwannomatosis,COQ6,"coenzyme Q6, monooxygenase",Major susceptibility factor in,Assessed
93921,Full schwannomatosis,LZTR1,leucine zipper like post translational regulator 1,Major susceptibility factor in,Assessed
93952,"X-linked intellectual disability, Hedera type",ATP6AP2,ATPase H+ transporting accessory protein 2,Disease-causing germline mutation(s) in,Assessed
595109,Atypical Timothy syndrome,CACNA1C,calcium voltage-gated channel subunit alpha1 C,Disease-causing germline mutation(s) in,Assessed
93950,"X-linked intellectual disability, Sutherland-Haan type",PQBP1,polyglutamine binding protein 1,Disease-causing germline mutation(s) in,Assessed
595098,Timothy syndrome type 1,CACNA1C,calcium voltage-gated channel subunit alpha1 C,Disease-causing germline mutation(s) in,Assessed
93947,"X-linked intellectual disability, Golabi-Ito-Hall type",PQBP1,polyglutamine binding protein 1,Disease-causing germline mutation(s) in,Assessed
595105,Timothy syndrome type 2,CACNA1C,calcium voltage-gated channel subunit alpha1 C,Disease-causing germline mutation(s) in,Assessed
93946,Hamel cerebro-palato-cardiac syndrome,PQBP1,polyglutamine binding protein 1,Disease-causing germline mutation(s) in,Assessed
93945,"X-linked intellectual disability, Porteous type",PQBP1,polyglutamine binding protein 1,Disease-causing germline mutation(s) in,Assessed
93616,Hemoglobin H disease,HBA2,hemoglobin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
93616,Hemoglobin H disease,HBA1,hemoglobin subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
93622,Dent disease type 1,CLCN5,chloride voltage-gated channel 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
93623,Dent disease type 2,OCRL,OCRL inositol polyphosphate-5-phosphatase,Disease-causing germline mutation(s) (loss of function) in,Assessed
93591,Infantile nephronophthisis,NPHP3,nephrocystin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
93591,Infantile nephronophthisis,INVS,inversin,Disease-causing germline mutation(s) in,Assessed
93591,Infantile nephronophthisis,NEK8,NIMA related kinase 8,Disease-causing germline mutation(s) in,Assessed
93591,Infantile nephronophthisis,TTC21B,tetratricopeptide repeat domain 21B,Disease-causing germline mutation(s) in,Assessed
93591,Infantile nephronophthisis,ANKS6,ankyrin repeat and sterile alpha motif domain containing 6,Disease-causing germline mutation(s) in,Assessed
93591,Infantile nephronophthisis,CEP83,centrosomal protein 83,Disease-causing germline mutation(s) in,Assessed
93591,Infantile nephronophthisis,ZNF423,zinc finger protein 423,Disease-causing germline mutation(s) in,Assessed
93592,Juvenile nephronophthisis,NPHP1,nephrocystin 1,Disease-causing germline mutation(s) in,Assessed
93592,Juvenile nephronophthisis,NPHP4,nephrocystin 4,Disease-causing germline mutation(s) in,Assessed
93592,Juvenile nephronophthisis,GLIS2,GLIS family zinc finger 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
93592,Juvenile nephronophthisis,WDR19,WD repeat domain 19,Disease-causing germline mutation(s) in,Assessed
93592,Juvenile nephronophthisis,ANKS6,ankyrin repeat and sterile alpha motif domain containing 6,Disease-causing germline mutation(s) in,Assessed
93592,Juvenile nephronophthisis,MAPKBP1,mitogen-activated protein kinase binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
93592,Juvenile nephronophthisis,ADAMTS9,ADAM metallopeptidase with thrombospondin type 1 motif 9,Disease-causing germline mutation(s) in,Assessed
93589,Late-onset nephronophthisis,NPHP3,nephrocystin 3,Disease-causing germline mutation(s) in,Assessed
93589,Late-onset nephronophthisis,XPNPEP3,X-prolyl aminopeptidase 3,Disease-causing germline mutation(s) in,Assessed
93589,Late-onset nephronophthisis,MAPKBP1,mitogen-activated protein kinase binding protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
93598,Primary hyperoxaluria type 1,AGXT,alanine--glyoxylate aminotransferase,Disease-causing germline mutation(s) in,Assessed
596008,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,FGFR2,fibroblast growth factor receptor 2,Disease-causing germline mutation(s) in,Assessed
93583,Congenital thrombotic thrombocytopenic purpura,ADAMTS13,ADAM metallopeptidase with thrombospondin type 1 motif 13,Disease-causing germline mutation(s) (loss of function) in,Assessed
93610,Distal renal tubular acidosis with anemia,SLC4A1,solute carrier family 4 member 1 (Diego blood group),Disease-causing germline mutation(s) in,Assessed
596759,Combined immunodeficiency due to RELA haploinsufficiency,RELA,"RELA proto-oncogene, NF-kB subunit",Disease-causing germline mutation(s) in,Assessed
93608,Autosomal dominant distal renal tubular acidosis,SLC4A1,solute carrier family 4 member 1 (Diego blood group),Disease-causing germline mutation(s) in,Assessed
93607,Autosomal recessive proximal renal tubular acidosis,SLC4A4,solute carrier family 4 member 4,Disease-causing germline mutation(s) in,Assessed
93613,Cystinuria type B,SLC7A9,solute carrier family 7 member 9,Disease-causing germline mutation(s) in,Assessed
93612,Cystinuria type A,SLC3A1,solute carrier family 3 member 1,Disease-causing germline mutation(s) in,Assessed
93602,Xanthinuria type II,MOCOS,molybdenum cofactor sulfurase,Disease-causing germline mutation(s) in,Assessed
93601,Xanthinuria type I,XDH,xanthine dehydrogenase,Disease-causing germline mutation(s) in,Assessed
93600,Primary hyperoxaluria type 3,HOGA1,4-hydroxy-2-oxoglutarate aldolase 1,Disease-causing germline mutation(s) in,Assessed
93599,Primary hyperoxaluria type 2,GRHPR,glyoxylate and hydroxypyruvate reductase,Disease-causing germline mutation(s) in,Assessed
93606,Nephrogenic syndrome of inappropriate antidiuresis,AVPR2,arginine vasopressin receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
596753,VEXAS syndrome,UBA1,ubiquitin like modifier activating enzyme 1,Disease-causing somatic mutation(s) in,Assessed
93605,Bartter syndrome type 3,CLCNKB,chloride voltage-gated channel Kb,Disease-causing germline mutation(s) in,Assessed
99068,Complete atrioventricular septal defect-tetralogy of Fallot,NR2F2,nuclear receptor subfamily 2 group F member 2,Major susceptibility factor in,Assessed
99068,Complete atrioventricular septal defect-tetralogy of Fallot,GATA4,GATA binding protein 4,Disease-causing germline mutation(s) in,Assessed
99068,Complete atrioventricular septal defect-tetralogy of Fallot,CRELD1,CRELD disulfide isomerase 1,Major susceptibility factor in,Assessed
99067,Complete atrioventricular septal defect with ventricular hypoplasia,NR2F2,nuclear receptor subfamily 2 group F member 2,Major susceptibility factor in,Assessed
99067,Complete atrioventricular septal defect with ventricular hypoplasia,GATA6,GATA binding protein 6,Disease-causing germline mutation(s) in,Assessed
99067,Complete atrioventricular septal defect with ventricular hypoplasia,CRELD1,CRELD disulfide isomerase 1,Major susceptibility factor in,Assessed
99067,Complete atrioventricular septal defect with ventricular hypoplasia,GATA4,GATA binding protein 4,Disease-causing germline mutation(s) in,Assessed
99106,"Atrial septal defect, ostium primum type",TLL1,tolloid like 1,Disease-causing germline mutation(s) in,Assessed
99105,"Atrial septal defect, sinus venosus type",CITED2,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",ACTC1,actin alpha cardiac muscle 1,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",GATA4,GATA binding protein 4,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",MYH6,myosin heavy chain 6,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",TBX20,T-box transcription factor 20,Disease-causing germline mutation(s) (loss of function) in,Assessed
99103,"Atrial septal defect, ostium secundum type",TBX20,T-box transcription factor 20,Disease-causing germline mutation(s) (gain of function) in,Assessed
99103,"Atrial septal defect, ostium secundum type",TLL1,tolloid like 1,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",CITED2,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,Disease-causing germline mutation(s) in,Assessed
99103,"Atrial septal defect, ostium secundum type",GATA6,GATA binding protein 6,Disease-causing germline mutation(s) in,Assessed
99141,Lymphedema-posterior choanal atresia syndrome,PTPN14,protein tyrosine phosphatase non-receptor type 14,Disease-causing germline mutation(s) (loss of function) in,Assessed
99361,Isolated familial medullary thyroid carcinoma,ESR2,estrogen receptor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
99361,Isolated familial medullary thyroid carcinoma,NTRK1,neurotrophic receptor tyrosine kinase 1,Disease-causing germline mutation(s) in,Assessed
99361,Isolated familial medullary thyroid carcinoma,RET,ret proto-oncogene,Disease-causing germline mutation(s) in,Assessed
99657,"Primary dystonia, DYT2 type",HPCA,hippocalcin,Disease-causing germline mutation(s) in,Assessed
99429,Complete androgen insensitivity syndrome,AR,androgen receptor,Disease-causing germline mutation(s) in,Assessed
99646,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,IDH1,isocitrate dehydrogenase (NADP(+)) 1,Disease-causing somatic mutation(s) in,Assessed
592574,Menke-Hennekam syndrome,CREBBP,CREB binding lysine acetyltransferase,Disease-causing germline mutation(s) in,Assessed
592564,GNAO1-related developmental delay-seizures-movement disorder spectrum,GNAO1,G protein subunit alpha o1,Disease-causing germline mutation(s) in,Assessed
592570,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,TRAF7,TNF receptor associated factor 7,Disease-causing germline mutation(s) in,Assessed
99718,Leber plus disease,MT-ND4,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4,Disease-causing germline mutation(s) in,Assessed
99718,Leber plus disease,MT-ND6,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6,Disease-causing germline mutation(s) in,Assessed
99718,Leber plus disease,MT-ND3,mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3,Disease-causing germline mutation(s) in,Assessed
99725,Pituitary gigantism,AIP,AHR interacting HSP90 co-chaperone,Disease-causing germline mutation(s) (loss of function) in,Assessed
99725,Pituitary gigantism,MEN1,menin 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
589821,Congenital-onset Steinert myotonic dystrophy,DMPK,DM1 protein kinase,Disease-causing germline mutation(s) in,Assessed
589827,Juvenile-onset Steinert myotonic dystrophy,DMPK,DM1 protein kinase,Disease-causing germline mutation(s) in,Assessed
589824,Childhood-onset Steinert myotonic dystrophy,DMPK,DM1 protein kinase,Disease-causing germline mutation(s) in,Assessed
589833,Late-onset Steinert myotonic dystrophy,DMPK,DM1 protein kinase,Disease-causing germline mutation(s) in,Assessed
589830,Adult-onset Steinert myotonic dystrophy,DMPK,DM1 protein kinase,Disease-causing germline mutation(s) in,Assessed
99704,Early-onset obesity-hyperphagia-severe developmental delay syndrome,NTRK2,neurotrophic receptor tyrosine kinase 2,Disease-causing germline mutation(s) in,Assessed
589905,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,PHIP,PHIP subunit of CUL4-Ring ligase complex,Disease-causing germline mutation(s) in,Assessed
589856,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,KMT2D,lysine methyltransferase 2D,Disease-causing germline mutation(s) in,Assessed
99749,Kostmann syndrome,HAX1,HCLS1 associated protein X-1,Disease-causing germline mutation(s) in,Assessed
99757,Embryonal rhabdomyosarcoma,SLC67A1,solute carrier family 67 member 1,Candidate gene tested in,Not yet assessed
99757,Embryonal rhabdomyosarcoma,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
99757,Embryonal rhabdomyosarcoma,NF1,neurofibromin 1,Disease-causing somatic mutation(s) in,Assessed
99757,Embryonal rhabdomyosarcoma,DICER1,"dicer 1, ribonuclease III",Disease-causing somatic mutation(s) in,Assessed
99756,Alveolar rhabdomyosarcoma,FOXO1,forkhead box O1,Part of a fusion gene in,Assessed
99756,Alveolar rhabdomyosarcoma,PAX3,paired box 3,Part of a fusion gene in,Assessed
99756,Alveolar rhabdomyosarcoma,PAX7,paired box 7,Part of a fusion gene in,Assessed
99756,Alveolar rhabdomyosarcoma,NF1,neurofibromin 1,Disease-causing somatic mutation(s) in,Assessed
99756,Alveolar rhabdomyosarcoma,TP53,tumor protein p53,Disease-causing germline mutation(s) in,Assessed
99734,Myotonia fluctuans,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) in,Assessed
99731,Isolated sulfite oxidase deficiency,SUOX,sulfite oxidase,Disease-causing germline mutation(s) in,Assessed
99735,Myotonia permanens,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) in,Assessed
99736,Acetazolamide-responsive myotonia,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) in,Assessed
99741,King-Denborough syndrome,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
99742,Amish lethal microcephaly,SLC25A19,solute carrier family 25 member 19,Disease-causing germline mutation(s) in,Assessed
98820,Familial focal epilepsy with variable foci,DEPDC5,"DEP domain containing 5, GATOR1 subcomplex subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
98820,Familial focal epilepsy with variable foci,NPRL2,"NPR2 like, GATOR1 complex subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
98820,Familial focal epilepsy with variable foci,NPRL3,"NPR3 like, GATOR1 complex subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
98820,Familial focal epilepsy with variable foci,SCN3A,sodium voltage-gated channel alpha subunit 3,Disease-causing germline mutation(s) in,Assessed
98818,Landau-Kleffner syndrome,GRIN2A,glutamate ionotropic receptor NMDA type subunit 2A,Disease-causing germline mutation(s) in,Assessed
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,IKBKG,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,Disease-causing germline mutation(s) in,Assessed
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,NFKBIA,NFKB inhibitor alpha,Disease-causing germline mutation(s) in,Assessed
98811,Paroxysmal exertion-induced dyskinesia,SLC2A1,solute carrier family 2 member 1,Disease-causing germline mutation(s) in,Assessed
98811,Paroxysmal exertion-induced dyskinesia,PRRT2,proline rich transmembrane protein 2,Disease-causing germline mutation(s) in,Assessed
98810,Paroxysmal non-kinesigenic dyskinesia,PNKD,PNKD metallo-beta-lactamase domain containing,Disease-causing germline mutation(s) in,Assessed
98810,Paroxysmal non-kinesigenic dyskinesia,PRRT2,proline rich transmembrane protein 2,Disease-causing germline mutation(s) in,Assessed
98809,Paroxysmal kinesigenic dyskinesia,PRRT2,proline rich transmembrane protein 2,Disease-causing germline mutation(s) in,Assessed
98809,Paroxysmal kinesigenic dyskinesia,KCNA1,potassium voltage-gated channel subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
98809,Paroxysmal kinesigenic dyskinesia,KCNJ10,potassium inwardly rectifying channel subfamily J member 10,Disease-causing germline mutation(s) in,Assessed
98808,Autosomal dominant dopa-responsive dystonia,GCH1,GTP cyclohydrolase 1,Disease-causing germline mutation(s) in,Assessed
98808,Autosomal dominant dopa-responsive dystonia,NR4A2,nuclear receptor subfamily 4 group A member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98808,Autosomal dominant dopa-responsive dystonia,IMPDH2,inosine monophosphate dehydrogenase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98807,"Primary dystonia, DYT13 type",DYT13,"dystonia 13, torsion",Disease-causing germline mutation(s) in,Assessed
98838,Primary mediastinal large B-cell lymphoma,BCL6,BCL6 transcription repressor,Disease-causing somatic mutation(s) in,Assessed
98838,Primary mediastinal large B-cell lymphoma,XPO1,exportin 1,Candidate gene tested in,Assessed
98835,Acute undifferentiated leukemia,KMT2A,lysine methyltransferase 2A,Part of a fusion gene in,Assessed
98833,Acute myeloblastic leukemia without maturation,FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
98833,Acute myeloblastic leukemia without maturation,NPM1,nucleophosmin 1,Disease-causing somatic mutation(s) in,Not yet assessed
98834,Acute myeloblastic leukemia with maturation,FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
98834,Acute myeloblastic leukemia with maturation,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Not yet assessed
98834,Acute myeloblastic leukemia with maturation,NPM1,nucleophosmin 1,Disease-causing somatic mutation(s) in,Not yet assessed
98831,Acute myeloid leukemia with 11q23 abnormalities,KMT2A,lysine methyltransferase 2A,Role in the phenotype of,Assessed
98832,Acute myeloid leukemia with minimal differentiation,FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),FLT3,fms related receptor tyrosine kinase 3,Biomarker tested in,Assessed
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),MYH11,myosin heavy chain 11,Part of a fusion gene in,Assessed
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),CBFB,core-binding factor subunit beta,Part of a fusion gene in,Assessed
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),KIT,"KIT proto-oncogene, receptor tyrosine kinase",Biomarker tested in,Assessed
98826,Myelodysplastic neoplasm with low blasts,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
98823,Chronic myelomonocytic leukemia,ETV6,ETS variant transcription factor 6,Part of a fusion gene in,Assessed
98823,Chronic myelomonocytic leukemia,ASXL1,ASXL transcriptional regulator 1,Candidate gene tested in,Not yet assessed
98823,Chronic myelomonocytic leukemia,SRSF2,serine and arginine rich splicing factor 2,Candidate gene tested in,Not yet assessed
98824,Atypical chronic myeloid leukemia,CSF3R,colony stimulating factor 3 receptor,Disease-causing somatic mutation(s) in,Assessed
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,SYNE1,spectrin repeat containing nuclear envelope protein 1,Disease-causing germline mutation(s) in,Not yet assessed
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,TMEM43,transmembrane protein 43,Disease-causing germline mutation(s) in,Assessed
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,SYNE2,spectrin repeat containing nuclear envelope protein 2,Disease-causing germline mutation(s) in,Not yet assessed
98850,Aggressive systemic mastocytosis,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
98850,Aggressive systemic mastocytosis,SRSF2,serine and arginine rich splicing factor 2,Disease-causing somatic mutation(s) in,Assessed
98850,Aggressive systemic mastocytosis,ASXL1,ASXL transcriptional regulator 1,Disease-causing somatic mutation(s) in,Assessed
98850,Aggressive systemic mastocytosis,RUNX1,RUNX family transcription factor 1,Disease-causing somatic mutation(s) in,Assessed
98850,Aggressive systemic mastocytosis,CBL,Cbl proto-oncogene,Disease-causing somatic mutation(s) in,Assessed
98849,Systemic mastocytosis with associated hematologic neoplasm,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Disease-causing somatic mutation(s) in,Assessed
98849,Systemic mastocytosis with associated hematologic neoplasm,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
98849,Systemic mastocytosis with associated hematologic neoplasm,SRSF2,serine and arginine rich splicing factor 2,Disease-causing somatic mutation(s) in,Assessed
98849,Systemic mastocytosis with associated hematologic neoplasm,ASXL1,ASXL transcriptional regulator 1,Disease-causing somatic mutation(s) in,Assessed
98843,"Classic Hodgkin lymphoma, nodular sclerosis type",KLHDC8B,kelch domain containing 8B,Candidate gene tested in,Not yet assessed
98839,Intravascular large B-cell lymphoma,BCL6,BCL6 transcription repressor,Disease-causing somatic mutation(s) in,Assessed
98839,Intravascular large B-cell lymphoma,BCL2,BCL2 apoptosis regulator,Biomarker tested in,Assessed
98842,Lymphomatoid papulosis,TYK2,tyrosine kinase 2,Part of a fusion gene in,Assessed
98842,Lymphomatoid papulosis,NPM1,nucleophosmin 1,Part of a fusion gene in,Assessed
589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",RHOA,ras homolog family member A,Disease-causing germline mutation(s) in,Assessed
589595,Mixed phenotype acute leukemia with t(v;11q23.3),FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
589595,Mixed phenotype acute leukemia with t(v;11q23.3),KMT2A,lysine methyltransferase 2A,Part of a fusion gene in,Assessed
589595,Mixed phenotype acute leukemia with t(v;11q23.3),AFF1,ALF transcription elongation factor 1,Part of a fusion gene in,Assessed
98868,Southeast Asian ovalocytosis,SLC4A1,solute carrier family 4 member 1 (Diego blood group),Disease-causing germline mutation(s) in,Assessed
98869,Congenital dyserythropoietic anemia type I,CDAN1,codanin 1,Disease-causing germline mutation(s) in,Assessed
98869,Congenital dyserythropoietic anemia type I,CDIN1,CDAN1 interacting nuclease 1,Disease-causing germline mutation(s) in,Assessed
589618,Dystonia 28,KMT2B,lysine methyltransferase 2B,Disease-causing germline mutation(s) in,Assessed
98870,Congenital dyserythropoietic anemia type III,KIF23,kinesin family member 23,Disease-causing germline mutation(s) in,Assessed
98870,Congenital dyserythropoietic anemia type III,RACGAP1,Rac GTPase activating protein 1,Disease-causing germline mutation(s) in,Assessed
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),KMT2A,lysine methyltransferase 2A,Part of a fusion gene in,Assessed
98863,X-linked Emery-Dreifuss muscular dystrophy,EMD,emerin,Disease-causing germline mutation(s) in,Assessed
98863,X-linked Emery-Dreifuss muscular dystrophy,FHL1,four and a half LIM domains 1,Disease-causing germline mutation(s) in,Assessed
589527,Spinocerebellar ataxia type 45,FAT2,FAT atypical cadherin 2,Disease-causing germline mutation(s) in,Assessed
589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",GRIN2B,glutamate ionotropic receptor NMDA type subunit 2B,Disease-causing germline mutation(s) in,Assessed
589442,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,PISD,phosphatidylserine decarboxylase,Disease-causing germline mutation(s) in,Assessed
589435,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,PLCB3,phospholipase C beta 3,Disease-causing germline mutation(s) in,Assessed
589522,Spinocerebellar ataxia type 46,PLD3,phospholipase D family member 3,Disease-causing germline mutation(s) in,Assessed
589515,PUM1-associated developmental disability-ataxia-seizure syndrome,PUM1,pumilio RNA binding family member 1,Disease-causing germline mutation(s) in,Assessed
98855,Autosomal recessive Emery-Dreifuss muscular dystrophy,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
98856,Charcot-Marie-Tooth disease type 2B1,LMNA,lamin A/C,Disease-causing germline mutation(s) in,Assessed
98881,Familial dysfibrinogenemia,FGA,fibrinogen alpha chain,Disease-causing germline mutation(s) in,Assessed
98881,Familial dysfibrinogenemia,FGB,fibrinogen beta chain,Disease-causing germline mutation(s) in,Assessed
98881,Familial dysfibrinogenemia,FGG,fibrinogen gamma chain,Disease-causing germline mutation(s) in,Assessed
98880,Familial afibrinogenemia,FGA,fibrinogen alpha chain,Disease-causing germline mutation(s) in,Assessed
98880,Familial afibrinogenemia,FGB,fibrinogen beta chain,Disease-causing germline mutation(s) in,Assessed
98880,Familial afibrinogenemia,FGG,fibrinogen gamma chain,Disease-causing germline mutation(s) in,Assessed
98885,Bleeding diathesis due to glycoprotein VI deficiency,GP6,glycoprotein VI platelet,Disease-causing germline mutation(s) (loss of function) in,Assessed
98873,Congenital dyserythropoietic anemia type II,SEC23B,"SEC23 homolog B, COPII component",Disease-causing germline mutation(s) (loss of function) in,Assessed
98897,Oculopharyngodistal myopathy,NOTCH2NLC,notch 2 N-terminal like C,Disease-causing germline mutation(s) in,Assessed
98897,Oculopharyngodistal myopathy,LRP12,LDL receptor related protein 12,Disease-causing germline mutation(s) in,Assessed
98897,Oculopharyngodistal myopathy,GIPC1,GIPC PDZ domain containing family member 1,Disease-causing germline mutation(s) in,Assessed
98897,Oculopharyngodistal myopathy,ABCD3,ATP binding cassette subfamily D member 3,Disease-causing germline mutation(s) in,Assessed
98897,Oculopharyngodistal myopathy,NUTM2B-AS1,NUTM2B antisense RNA 1,Disease-causing germline mutation(s) in,Assessed
98897,Oculopharyngodistal myopathy,RILPL1,Rab interacting lysosomal protein like 1,Disease-causing germline mutation(s) in,Assessed
98895,Becker muscular dystrophy,DMD,dystrophin,Disease-causing germline mutation(s) in,Assessed
98896,Duchenne muscular dystrophy,DMD,dystrophin,Disease-causing germline mutation(s) in,Assessed
98896,Duchenne muscular dystrophy,LTBP4,latent transforming growth factor beta binding protein 4,Modifying germline mutation in,Assessed
98902,Amish nemaline myopathy,TNNT1,"troponin T1, slow skeletal type",Disease-causing germline mutation(s) in,Assessed
98889,Bilateral perisylvian polymicrogyria,SRPX2,sushi repeat containing protein X-linked 2,Candidate gene tested in,Not yet assessed
98889,Bilateral perisylvian polymicrogyria,ADGRG1,adhesion G protein-coupled receptor G1,Disease-causing germline mutation(s) in,Assessed
98889,Bilateral perisylvian polymicrogyria,PI4KA,phosphatidylinositol 4-kinase alpha,Disease-causing germline mutation(s) in,Assessed
98890,Early-onset X-linked optic atrophy,OPA2,optic atrophy 2 (obscure),Disease-causing germline mutation(s) in,Assessed
98892,Periventricular nodular heterotopia,ARFGEF2,ARF guanine nucleotide exchange factor 2,Disease-causing germline mutation(s) in,Assessed
98892,Periventricular nodular heterotopia,FLNA,filamin A,Disease-causing germline mutation(s) (loss of function) in,Assessed
98892,Periventricular nodular heterotopia,ERMARD,ER membrane associated RNA degradation,Disease-causing germline mutation(s) in,Assessed
98892,Periventricular nodular heterotopia,NEDD4L,NEDD4 like E3 ubiquitin protein ligase,Disease-causing germline mutation(s) in,Assessed
98892,Periventricular nodular heterotopia,TMTC3,transmembrane O-mannosyltransferase targeting cadherins 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
98892,Periventricular nodular heterotopia,ARF1,ARF GTPase 1,Disease-causing germline mutation(s) in,Assessed
98892,Periventricular nodular heterotopia,MAP1B,microtubule associated protein 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
98912,"Late-onset distal myopathy, Markesbery-Griggs type",LDB3,LIM domain binding 3,Disease-causing germline mutation(s) in,Assessed
98911,Distal myotilinopathy,MYOT,myotilin,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,CHAT,choline O-acetyltransferase,Disease-causing germline mutation(s) (loss of function) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,AGRN,agrin,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,SLC25A1,solute carrier family 25 member 1,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,SNAP25,synaptosome associated protein 25,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,SYT2,synaptotagmin 2,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,MYO9A,myosin IXA,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,SLC5A7,solute carrier family 5 member 7,Disease-causing germline mutation(s) (gain of function) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,VAMP1,vesicle associated membrane protein 1,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,SLC18A3,solute carrier family 18 member A3,Disease-causing germline mutation(s) in,Assessed
98914,Presynaptic congenital myasthenic syndromes,COL13A1,collagen type XIII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,RAPSN,receptor associated protein of the synapse,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,SCN4A,sodium voltage-gated channel alpha subunit 4,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRNA1,cholinergic receptor nicotinic alpha 1 subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRNA1,cholinergic receptor nicotinic alpha 1 subunit,Disease-causing germline mutation(s) (gain of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRNB1,cholinergic receptor nicotinic beta 1 subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRNB1,cholinergic receptor nicotinic beta 1 subunit,Disease-causing germline mutation(s) (gain of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRND,cholinergic receptor nicotinic delta subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRND,cholinergic receptor nicotinic delta subunit,Disease-causing germline mutation(s) (gain of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRNE,cholinergic receptor nicotinic epsilon subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,CHRNE,cholinergic receptor nicotinic epsilon subunit,Disease-causing germline mutation(s) (gain of function) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,DOK7,docking protein 7,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,MUSK,muscle associated receptor tyrosine kinase,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,LRP4,LDL receptor related protein 4,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,AGRN,agrin,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,AK9,adenylate kinase 9,Disease-causing germline mutation(s) in,Assessed
98913,Postsynaptic congenital myasthenic syndrome,COL13A1,collagen type XIII alpha 1 chain,Disease-causing germline mutation(s) (loss of function) in,Assessed
98916,Acute inflammatory demyelinating polyradiculoneuropathy,PMP22,peripheral myelin protein 22,Major susceptibility factor in,Assessed
98915,Synaptic congenital myasthenic syndrome,COLQ,collagen like tail subunit of asymmetric acetylcholinesterase,Disease-causing germline mutation(s) in,Assessed
98915,Synaptic congenital myasthenic syndrome,LAMB2,laminin subunit beta 2,Disease-causing germline mutation(s) in,Assessed
98904,Congenital myopathy with excess of thin filaments,ACTA1,"actin alpha 1, skeletal muscle",Disease-causing germline mutation(s) in,Assessed
98905,Congenital multicore myopathy with external ophthalmoplegia,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
98908,Neutral lipid storage disease with myopathy,PNPLA2,"patatin like domain 2, triacylglycerol lipase",Disease-causing germline mutation(s) in,Assessed
98907,Neutral lipid storage disease with ichthyosis,ABHD5,"abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",Disease-causing germline mutation(s) in,Assessed
98909,Desminopathy,DES,desmin,Disease-causing germline mutation(s) in,Assessed
98933,"Multiple system atrophy, parkinsonian type",COQ2,"coenzyme Q2, polyprenyltransferase",Major susceptibility factor in,Assessed
98934,Huntington disease-like 2,JPH3,junctophilin 3,Disease-causing germline mutation(s) in,Assessed
98920,Spinal muscular atrophy with respiratory distress type 1,IGHMBP2,immunoglobulin mu DNA binding protein 2,Disease-causing germline mutation(s) in,Assessed
98942,Coloboma of choroid and retina,ACTG1,actin gamma 1,Disease-causing germline mutation(s) in,Assessed
98942,Coloboma of choroid and retina,FZD5,frizzled class receptor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
98942,Coloboma of choroid and retina,SALL2,spalt like transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98942,Coloboma of choroid and retina,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98942,Coloboma of choroid and retina,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,SHH,sonic hedgehog signaling molecule,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,STRA6,signaling receptor and transporter of retinol STRA6,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,VSX2,visual system homeobox 2,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,GDF6,growth differentiation factor 6,Candidate gene tested in,Not yet assessed
98938,Colobomatous microphthalmia,GDF3,growth differentiation factor 3,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,TENM3,teneurin transmembrane protein 3,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,RBP4,retinol binding protein 4,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,SOX2,SRY-box transcription factor 2,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,SIX6,SIX homeobox 6,Candidate gene tested in,Not yet assessed
98938,Colobomatous microphthalmia,OTX2,orthodenticle homeobox 2,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,RAX,retina and anterior neural fold homeobox,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,ALDH1A3,aldehyde dehydrogenase 1 family member A3,Disease-causing germline mutation(s) in,Assessed
98938,Colobomatous microphthalmia,PORCN,porcupine O-acyltransferase,Disease-causing germline mutation(s) in,Assessed
98949,Complete cryptophthalmia,FREM2,FRAS1 related extracellular matrix 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98947,Coloboma of optic disc,FZD5,frizzled class receptor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
98947,Coloboma of optic disc,SALL2,spalt like transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98947,Coloboma of optic disc,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98947,Coloboma of optic disc,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
98945,Coloboma of macula,FZD5,frizzled class receptor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
98945,Coloboma of macula,SALL2,spalt like transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98945,Coloboma of macula,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98945,Coloboma of macula,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
98946,Coloboma of eyelid,FZD5,frizzled class receptor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
98946,Coloboma of eyelid,SALL2,spalt like transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98946,Coloboma of eyelid,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98946,Coloboma of eyelid,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
98943,Coloboma of eye lens,FZD5,frizzled class receptor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
98943,Coloboma of eye lens,SALL2,spalt like transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98943,Coloboma of eye lens,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98943,Coloboma of eye lens,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
98944,Coloboma of iris,ACTG1,actin gamma 1,Disease-causing germline mutation(s) in,Assessed
98944,Coloboma of iris,FZD5,frizzled class receptor 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
98944,Coloboma of iris,SALL2,spalt like transcription factor 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
98944,Coloboma of iris,ABCB6,ATP binding cassette subfamily B member 6 (LAN blood group),Disease-causing germline mutation(s) in,Assessed
98944,Coloboma of iris,PAX6,paired box 6,Disease-causing germline mutation(s) in,Assessed
98957,Gelatinous drop-like corneal dystrophy,TACSTD2,tumor associated calcium signal transducer 2,Disease-causing germline mutation(s) in,Assessed
98956,Epithelial basement membrane dystrophy,TGFBI,transforming growth factor beta induced,Disease-causing germline mutation(s) in,Assessed
98954,Meesmann corneal dystrophy,KRT12,keratin 12,Disease-causing germline mutation(s) in,Assessed
98954,Meesmann corneal dystrophy,KRT3,keratin 3,Disease-causing germline mutation(s) in,Assessed
98964,Lattice corneal dystrophy type I,TGFBI,transforming growth factor beta induced,Disease-causing germline mutation(s) in,Assessed
98963,Granular corneal dystrophy type II,TGFBI,transforming growth factor beta induced,Disease-causing germline mutation(s) in,Assessed
98962,Granular corneal dystrophy type I,TGFBI,transforming growth factor beta induced,Disease-causing germline mutation(s) in,Assessed
98961,Reis-Bücklers corneal dystrophy,TGFBI,transforming growth factor beta induced,Disease-causing germline mutation(s) in,Assessed
98960,Thiel-Behnke corneal dystrophy,TGFBI,transforming growth factor beta induced,Disease-causing germline mutation(s) in,Assessed
98973,Posterior polymorphous corneal dystrophy,VSX1,visual system homeobox 1,Disease-causing germline mutation(s) in,Assessed
98973,Posterior polymorphous corneal dystrophy,ZEB1,zinc finger E-box binding homeobox 1,Disease-causing germline mutation(s) in,Assessed
98973,Posterior polymorphous corneal dystrophy,COL8A2,collagen type VIII alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
98973,Posterior polymorphous corneal dystrophy,OVOL2,ovo like zinc finger 2,Disease-causing germline mutation(s) in,Assessed
98973,Posterior polymorphous corneal dystrophy,GRHL2,grainyhead like transcription factor 2,Disease-causing germline mutation(s) in,Assessed
98974,Fuchs endothelial corneal dystrophy,SLC4A11,solute carrier family 4 member 11,Disease-causing germline mutation(s) in,Assessed
98974,Fuchs endothelial corneal dystrophy,ZEB1,zinc finger E-box binding homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
98974,Fuchs endothelial corneal dystrophy,COL8A2,collagen type VIII alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
98974,Fuchs endothelial corneal dystrophy,TCF4,transcription factor 4,Disease-causing germline mutation(s) in,Assessed
98974,Fuchs endothelial corneal dystrophy,AGBL1,AGBL carboxypeptidase 1,Disease-causing germline mutation(s) in,Assessed
98967,Schnyder corneal dystrophy,UBIAD1,UbiA prenyltransferase domain containing 1,Disease-causing germline mutation(s) in,Assessed
98969,Macular corneal dystrophy,CHST6,carbohydrate sulfotransferase 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
98970,Fleck corneal dystrophy,PIKFYVE,"phosphoinositide kinase, FYVE-type zinc finger containing",Disease-causing germline mutation(s) (loss of function) in,Assessed
98976,Congenital glaucoma,CYP1B1,cytochrome P450 family 1 subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
98976,Congenital glaucoma,MYOC,myocilin,Disease-causing germline mutation(s) in,Assessed
98976,Congenital glaucoma,LTBP2,latent transforming growth factor beta binding protein 2,Disease-causing germline mutation(s) in,Assessed
98976,Congenital glaucoma,TEK,TEK receptor tyrosine kinase,Disease-causing germline mutation(s) (loss of function) in,Assessed
98977,Juvenile glaucoma,CYP1B1,cytochrome P450 family 1 subfamily B member 1,Major susceptibility factor in,Assessed
98977,Juvenile glaucoma,MYOC,myocilin,Disease-causing germline mutation(s) in,Assessed
98977,Juvenile glaucoma,EFEMP1,EGF-like fibulin extracellular matrix protein 1,Disease-causing germline mutation(s) in,Assessed
98978,Axenfeld anomaly,PITX2,paired like homeodomain 2,Disease-causing germline mutation(s) in,Assessed
98978,Axenfeld anomaly,FOXC1,forkhead box C1,Disease-causing germline mutation(s) in,Assessed
98988,Early-onset anterior polar cataract,CRYAA,crystallin alpha A,Disease-causing germline mutation(s) in,Assessed
98988,Early-onset anterior polar cataract,CRYBB3,crystallin beta B3,Disease-causing germline mutation(s) in,Assessed
98988,Early-onset anterior polar cataract,CRYGB,crystallin gamma B,Disease-causing germline mutation(s) in,Assessed
98988,Early-onset anterior polar cataract,CRYBA2,crystallin beta A2,Disease-causing germline mutation(s) in,Assessed
98990,Coralliform cataract,CRYGD,crystallin gamma D,Disease-causing germline mutation(s) in,Assessed
98989,Cerulean cataract,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
98989,Cerulean cataract,CRYGD,crystallin gamma D,Disease-causing germline mutation(s) in,Assessed
98989,Cerulean cataract,MIP,major intrinsic protein of lens fiber,Disease-causing germline mutation(s) in,Assessed
98989,Cerulean cataract,MAF,MAF bZIP transcription factor,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,BFSP2,beaded filament structural protein 2,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,CRYGC,crystallin gamma C,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,CRYGD,crystallin gamma D,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,GJA3,gap junction protein alpha 3,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,GJA8,gap junction protein alpha 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
98984,Pulverulent cataract,CRYBB1,crystallin beta B1,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,MAF,MAF bZIP transcription factor,Disease-causing germline mutation(s) in,Assessed
98984,Pulverulent cataract,VIM,vimentin,Disease-causing germline mutation(s) in,Assessed
98985,Early-onset sutural cataract,BFSP2,beaded filament structural protein 2,Disease-causing germline mutation(s) in,Assessed
98985,Early-onset sutural cataract,CRYBA1,crystallin beta A1,Disease-causing germline mutation(s) in,Assessed
98985,Early-onset sutural cataract,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
98985,Early-onset sutural cataract,GJA8,gap junction protein alpha 8,Disease-causing germline mutation(s) in,Assessed
98985,Early-onset sutural cataract,MIP,major intrinsic protein of lens fiber,Disease-causing germline mutation(s) in,Assessed
98985,Early-onset sutural cataract,CRYGS,crystallin gamma S,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,WFS1,wolframin ER transmembrane glycoprotein,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYAA,crystallin alpha A,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYAB,crystallin alpha B,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYBA1,crystallin beta A1,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYBB3,crystallin beta B3,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYGC,crystallin gamma C,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYGD,crystallin gamma D,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,GJA3,gap junction protein alpha 3,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,GJA8,gap junction protein alpha 8,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,MIP,major intrinsic protein of lens fiber,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYBB1,crystallin beta B1,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,NHS,NHS actin remodeling regulator,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,BFSP1,beaded filament structural protein 1,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,EPHA2,EPH receptor A2,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,FYCO1,FYVE and coiled-coil domain autophagy adaptor 1,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,UNC45B,unc-45 myosin chaperone B,Disease-causing germline mutation(s) in,Assessed
98991,Early-onset nuclear cataract,CRYBA2,crystallin beta A2,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,CRYAA,crystallin alpha A,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,CRYBB2,crystallin beta B2,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,GJA8,gap junction protein alpha 8,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,HSF4,heat shock transcription factor 4,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,MIP,major intrinsic protein of lens fiber,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,NHS,NHS actin remodeling regulator,Candidate gene tested in,Not yet assessed
98994,Total early-onset cataract,LIM2,lens intrinsic membrane protein 2,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,EPHA2,EPH receptor A2,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,FYCO1,FYVE and coiled-coil domain autophagy adaptor 1,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,AGK,acylglycerol kinase,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,CRYGB,crystallin gamma B,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,GCNT2,glucosaminyl (N-acetyl) transferase 2 (I blood group),Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,LSS,lanosterol synthase,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,PGRMC1,progesterone receptor membrane component 1,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,LEMD2,LEM domain nuclear envelope protein 2,Disease-causing germline mutation(s) in,Assessed
98994,Total early-onset cataract,DNMBP,dynamin binding protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
98994,Total early-onset cataract,SIPA1L3,signal induced proliferation associated 1 like 3,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,PITX3,paired like homeodomain 3,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,CRYAB,crystallin alpha B,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,CRYBA1,crystallin beta A1,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,GJA3,gap junction protein alpha 3,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,MIP,major intrinsic protein of lens fiber,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,CHMP4B,charged multivesicular body protein 4B,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,EPHA2,EPH receptor A2,Disease-causing germline mutation(s) in,Assessed
98993,Early-onset posterior polar cataract,PANK4,pantothenate kinase 4 (inactive),Disease-causing germline mutation(s) in,Assessed
99001,Butterfly-shaped pigment dystrophy,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
99001,Butterfly-shaped pigment dystrophy,OTX2,orthodenticle homeobox 2,Disease-causing germline mutation(s) in,Assessed
99001,Butterfly-shaped pigment dystrophy,CTNNA1,catenin alpha 1,Disease-causing germline mutation(s) in,Assessed
99002,Reticular dystrophy of the retinal pigment epithelium,RCBTB1,RCC1 and BTB domain containing protein 1,Disease-causing germline mutation(s) in,Assessed
99000,Adult-onset foveomacular vitelliform dystrophy,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
99000,Adult-onset foveomacular vitelliform dystrophy,BEST1,bestrophin 1,Disease-causing germline mutation(s) in,Assessed
99000,Adult-onset foveomacular vitelliform dystrophy,IMPG2,interphotoreceptor matrix proteoglycan 2,Disease-causing germline mutation(s) in,Assessed
99000,Adult-onset foveomacular vitelliform dystrophy,IMPG1,interphotoreceptor matrix proteoglycan 1,Disease-causing germline mutation(s) in,Assessed
99003,Multifocal pattern dystrophy simulating fundus flavimaculatus,PRPH2,peripherin 2,Disease-causing germline mutation(s) in,Assessed
99013,Spastic paraplegia type 7,SPG7,"SPG7 matrix AAA peptidase subunit, paraplegin",Disease-causing germline mutation(s) in,Assessed
99014,X-linked Charcot-Marie-Tooth disease type 5,PRPS1,phosphoribosyl pyrophosphate synthetase 1,Disease-causing germline mutation(s) in,Assessed
99015,Spastic paraplegia type 2,PLP1,proteolipid protein 1,Disease-causing germline mutation(s) in,Assessed
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,PDGFRA,platelet derived growth factor receptor alpha,Part of a fusion gene in,Assessed
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,FOXP1,forkhead box P1,Part of a fusion gene in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),CDKN2A,cyclin dependent kinase inhibitor 2A,Biomarker tested in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),ABL1,"ABL proto-oncogene 1, non-receptor tyrosine kinase",Part of a fusion gene in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),BCR,BCR activator of RhoGEF and GTPase,Part of a fusion gene in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),IKZF1,IKAROS family zinc finger 1,Biomarker tested in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),TP53,tumor protein p53,Biomarker tested in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),HLA-C,"major histocompatibility complex, class I, C",Major susceptibility factor in,Assessed
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,GATA3,GATA binding protein 3,Major susceptibility factor in,Assessed
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,PIP4K2A,phosphatidylinositol-5-phosphate 4-kinase type 2 alpha,Major susceptibility factor in,Assessed
585918,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),KMT2A,lysine methyltransferase 2A,Part of a fusion gene in,Assessed
585929,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),ETV6,ETS variant transcription factor 6,Part of a fusion gene in,Assessed
99027,Adult-onset autosomal dominant leukodystrophy,LMNB1,lamin B1,Disease-causing germline mutation(s) in,Assessed
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),TCF3,transcription factor 3,Part of a fusion gene in,Assessed
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),PBX1,PBX homeobox 1,Part of a fusion gene in,Assessed
585948,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),IGH,immunoglobulin heavy locus,Part of a fusion gene in,Assessed
99042,Congenitally uncorrected transposition of the great arteries with coarctation,CFC1,"cryptic, EGF-CFC family member 1",Candidate gene tested in,Not yet assessed
98676,Autosomal recessive isolated optic atrophy,YME1L1,YME1 like 1 ATPase,Disease-causing germline mutation(s) in,Assessed
98676,Autosomal recessive isolated optic atrophy,MECR,mitochondrial trans-2-enoyl-CoA reductase,Disease-causing germline mutation(s) in,Assessed
98676,Autosomal recessive isolated optic atrophy,ACO2,aconitase 2,Disease-causing germline mutation(s) in,Assessed
98676,Autosomal recessive isolated optic atrophy,RTN4IP1,reticulon 4 interacting protein 1,Disease-causing germline mutation(s) in,Assessed
98676,Autosomal recessive isolated optic atrophy,MCAT,malonyl-CoA-acyl carrier protein transacylase,Disease-causing germline mutation(s) in,Assessed
98673,"Autosomal dominant optic atrophy, classic form",OPA1,OPA1 mitochondrial dynamin like GTPase,Disease-causing germline mutation(s) in,Assessed
98673,"Autosomal dominant optic atrophy, classic form",DNM1L,dynamin 1 like,Disease-causing germline mutation(s) in,Assessed
98619,Rare isolated myopia,SLC39A5,solute carrier family 39 member 5,Disease-causing germline mutation(s) in,Assessed
98619,Rare isolated myopia,SCO2,synthesis of cytochrome C oxidase 2,Disease-causing germline mutation(s) in,Assessed
98619,Rare isolated myopia,P3H2,prolyl 3-hydroxylase 2,Disease-causing germline mutation(s) in,Assessed
98619,Rare isolated myopia,LRPAP1,LDL receptor related protein associated protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
583602,Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency,PSAT1,phosphoserine aminotransferase 1,Disease-causing germline mutation(s) in,Assessed
583607,Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,PHGDH,phosphoglycerate dehydrogenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
583612,Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency,PSPH,phosphoserine phosphatase,Disease-causing germline mutation(s) in,Assessed
98795,Angelman syndrome due to paternal uniparental disomy of chromosome 15,UBE3A,ubiquitin protein ligase E3A,Role in the phenotype of,Assessed
98794,Angelman syndrome due to maternal 15q11q13 deletion,UBE3A,ubiquitin protein ligase E3A,Role in the phenotype of,Assessed
98794,Angelman syndrome due to maternal 15q11q13 deletion,OCA2,OCA2 melanosomal transmembrane protein,Role in the phenotype of,Assessed
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,HBA2,hemoglobin subunit alpha 2,Role in the phenotype of,Assessed
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,HBA1,hemoglobin subunit alpha 1,Role in the phenotype of,Assessed
98806,"Primary dystonia, DYT6 type",THAP1,THAP domain containing 1,Disease-causing germline mutation(s) in,Assessed
98805,"Primary dystonia, DYT4 type",TUBB4A,tubulin beta 4A class IVa,Disease-causing germline mutation(s) in,Assessed
98784,Sleep-related hypermotor epilepsy,CHRNA4,cholinergic receptor nicotinic alpha 4 subunit,Disease-causing germline mutation(s) in,Assessed
98784,Sleep-related hypermotor epilepsy,CHRNA2,cholinergic receptor nicotinic alpha 2 subunit,Disease-causing germline mutation(s) in,Assessed
98784,Sleep-related hypermotor epilepsy,CHRNB2,cholinergic receptor nicotinic beta 2 subunit,Disease-causing germline mutation(s) in,Assessed
98784,Sleep-related hypermotor epilepsy,KCNT1,potassium sodium-activated channel subfamily T member 1,Disease-causing germline mutation(s) in,Assessed
98784,Sleep-related hypermotor epilepsy,DEPDC5,"DEP domain containing 5, GATOR1 subcomplex subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
98784,Sleep-related hypermotor epilepsy,CRH,corticotropin releasing hormone,Disease-causing germline mutation(s) in,Assessed
98784,Sleep-related hypermotor epilepsy,CABP4,calcium binding protein 4,Disease-causing germline mutation(s) in,Assessed
98764,Spinocerebellar ataxia type 27A,FGF14,fibroblast growth factor 14,Disease-causing germline mutation(s) in,Assessed
98763,Spinocerebellar ataxia type 14,PRKCG,protein kinase C gamma,Disease-causing germline mutation(s) in,Assessed
98766,Spinocerebellar ataxia type 5,SPTBN2,"spectrin beta, non-erythrocytic 2",Disease-causing germline mutation(s) in,Assessed
98765,Spinocerebellar ataxia type 4,PLEKHG4,pleckstrin homology and RhoGEF domain containing G4,Candidate gene tested in,Not yet assessed
98760,Spinocerebellar ataxia type 8,ATXN8,ataxin 8,Disease-causing germline mutation(s) in,Assessed
98760,Spinocerebellar ataxia type 8,ATXN8OS,ATXN8 opposite strand lncRNA,Disease-causing germline mutation(s) in,Assessed
98759,Spinocerebellar ataxia type 17,TBP,TATA-box binding protein,Disease-causing germline mutation(s) in,Assessed
98762,Spinocerebellar ataxia type 12,PPP2R2B,protein phosphatase 2 regulatory subunit Bbeta,Disease-causing germline mutation(s) in,Assessed
98761,Spinocerebellar ataxia type 10,ATXN10,ataxin 10,Disease-causing germline mutation(s) in,Assessed
98772,Spinocerebellar ataxia type 19/22,KCND3,potassium voltage-gated channel subfamily D member 3,Disease-causing germline mutation(s) in,Assessed
98771,Spinocerebellar ataxia type 18,IFRD1,interferon related developmental regulator 1,Disease-causing germline mutation(s) in,Assessed
98773,Spinocerebellar ataxia type 21,TMEM240,transmembrane protein 240,Disease-causing germline mutation(s) in,Assessed
98768,Spinocerebellar ataxia type 13,KCNC3,potassium voltage-gated channel subfamily C member 3,Disease-causing germline mutation(s) in,Assessed
98767,Spinocerebellar ataxia type 11,TTBK2,tau tubulin kinase 2,Disease-causing germline mutation(s) in,Assessed
98769,Spinocerebellar ataxia type 15/16,ITPR1,"inositol 1,4,5-trisphosphate receptor type 1",Disease-causing germline mutation(s) in,Assessed
580940,QRICH1-related intellectual disability-chondrodysplasia syndrome,QRICH1,glutamine rich 1,Disease-causing germline mutation(s) in,Assessed
580933,Lethal brain and heart developmental defects,SIRT6,sirtuin 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
98755,Spinocerebellar ataxia type 1,ATXN1,ataxin 1,Disease-causing germline mutation(s) in,Assessed
98756,Spinocerebellar ataxia type 2,ATXN2,ataxin 2,Disease-causing germline mutation(s) in,Assessed
98758,Spinocerebellar ataxia type 6,CACNA1A,calcium voltage-gated channel subunit alpha1 A,Disease-causing germline mutation(s) in,Assessed
581271,Cramp-fasciculation syndrome,TRPA1,transient receptor potential cation channel subfamily A member 1,Disease-causing germline mutation(s) in,Assessed
98754,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,SNRPN,small nuclear ribonucleoprotein polypeptide N,Role in the phenotype of,Assessed
98754,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,MAGEL2,MAGE family member L2,Role in the phenotype of,Assessed
98754,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,NDN,"necdin, MAGE family member",Role in the phenotype of,Assessed
98754,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,OCA2,OCA2 melanosomal transmembrane protein,Role in the phenotype of,Assessed
576232,Partial atrioventricular septal defect with ventricular hypoplasia,GATA4,GATA binding protein 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
576235,Partial atrioventricular septal defect without ventricular hypoplasia,CRELD1,CRELD disulfide isomerase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
576227,Complete atrioventricular septal defect without ventricular hypoplasia,MEF2C,myocyte enhancer factor 2C,Major susceptibility factor in,Assessed
575553,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,CTSA,cathepsin A,Disease-causing germline mutation(s) in,Assessed
576349,NLRC4-related familial cold autoinflammatory syndrome,NLRC4,NLR family CARD domain containing 4,Disease-causing germline mutation(s) in,Assessed
576283,SATB2-associated syndrome due to a pathogenic variant,SATB2,SATB homeobox 2,Disease-causing germline mutation(s) in,Assessed
574957,Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,JAK1,Janus kinase 1,Disease-causing germline mutation(s) in,Assessed
574918,Predisposition to severe viral infection due to IRF7 deficiency,IRF7,interferon regulatory factor 7,Candidate gene tested in,Not yet assessed
572385,Brachydactyly type B1,ROR2,receptor tyrosine kinase like orphan receptor 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
572361,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,FOXL2,forkhead box L2,Disease-causing germline mutation(s) in,Assessed
572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,OAS1,2'-5'-oligoadenylate synthetase 1,Disease-causing germline mutation(s) in,Assessed
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,GGCX,gamma-glutamyl carboxylase,Disease-causing germline mutation(s) in,Assessed
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,VKORC1,vitamin K epoxide reductase complex subunit 1,Disease-causing germline mutation(s) in,Assessed
572543,RFVT2-related riboflavin transporter deficiency,SLC52A2,solute carrier family 52 member 2,Disease-causing germline mutation(s) in,Assessed
572550,RFVT3-related riboflavin transporter deficiency,SLC52A3,solute carrier family 52 member 3,Disease-causing germline mutation(s) in,Assessed
572773,Microcephaly-short stature-limb abnormalities syndrome,DONSON,DNA replication fork stabilization factor DONSON,Disease-causing germline mutation(s) (loss of function) in,Assessed
572798,WARS2-related combined oxidative phosphorylation defect,WARS2,"tryptophanyl tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
572768,Microcephaly-micromelia syndrome,DONSON,DNA replication fork stabilization factor DONSON,Disease-causing germline mutation(s) in,Assessed
572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,MACF1,microtubule actin crosslinking factor 1,Disease-causing germline mutation(s) in,Assessed
572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,CEP85L,centrosomal protein 85L,Disease-causing germline mutation(s) in,Assessed
572333,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,FOXL2,forkhead box L2,Role in the phenotype of,Assessed
572354,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,FOXL2,forkhead box L2,Disease-causing germline mutation(s) in,Assessed
570491,QRSL1-related combined oxidative phosphorylation defect,QRSL1,glutaminyl-tRNA amidotransferase subunit QRSL1,Disease-causing germline mutation(s) in,Assessed
570422,Galactose mutarotase deficiency,GALM,galactose mutarotase,Disease-causing germline mutation(s) in,Assessed
570371,Bartter syndrome type 5,MAGED2,MAGE family member D2,Disease-causing germline mutation(s) in,Assessed
708895,Tetrahydrobiopterin-unresponsive phenylketonuria,PAH,phenylalanine hydroxylase,Disease-causing germline mutation(s) in,Assessed
708203,Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome,SMC1A,structural maintenance of chromosomes 1A,Disease-causing germline mutation(s) in,Assessed
708208,Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome,POLR2A,RNA polymerase II subunit A,Disease-causing germline mutation(s) in,Assessed
714385,Global developmental delay-high pain tolerance-intellectual disability syndrome,DEAF1,DEAF1 transcription factor,Disease-causing germline mutation(s) in,Assessed
714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",GRM6,glutamate metabotropic receptor 6,Disease-causing germline mutation(s) in,Assessed
714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",TRPM1,transient receptor potential cation channel subfamily M member 1,Disease-causing germline mutation(s) in,Assessed
714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",GPR179,G protein-coupled receptor 179,Disease-causing germline mutation(s) in,Assessed
714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",LRIT3,"leucine rich repeat, Ig-like and transmembrane domains 3",Disease-causing germline mutation(s) in,Assessed
714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",CACNA1F,calcium voltage-gated channel subunit alpha1 F,Disease-causing germline mutation(s) in,Assessed
714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",CABP4,calcium binding protein 4,Disease-causing germline mutation(s) in,Assessed
714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",CACNA2D4,calcium voltage-gated channel auxiliary subunit alpha2delta 4,Disease-causing germline mutation(s) in,Assessed
714046,Primary choroidal lymphoma,MYD88,MYD88 innate immune signal transduction adaptor,Disease-causing somatic mutation(s) in,Assessed
714096,"Congenital stationary night blindness, Riggs type",GNAT1,G protein subunit alpha transducin 1,Disease-causing germline mutation(s) in,Assessed
714096,"Congenital stationary night blindness, Riggs type",PDE6B,phosphodiesterase 6B,Disease-causing germline mutation(s) in,Assessed
714484,AGR2-related infantile-onset inflammatory bowel disease,AGR2,"anterior gradient 2, protein disulphide isomerase family member",Disease-causing germline mutation(s) (loss of function) in,Assessed
714487,Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome,WNT2B,Wnt family member 2B,Disease-causing germline mutation(s) in,Assessed
714477,Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome,ANKZF1,ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
714481,SCGN-related severe early-onset hereditary ulcerative colitis,SCGN,"secretagogin, EF-hand calcium binding protein",Disease-causing germline mutation(s) (loss of function) in,Assessed
714496,Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome,ARPC1B,actin related protein 2/3 complex subunit 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
714652,PCDH19 clustering epilepsy,PCDH19,protocadherin 19,Disease-causing germline mutation(s) in,Assessed
714490,PERCC1-related congenital intractable malabsorptive diarrhea,PERCC1,proline and glutamate rich with coiled coil 1,Disease-causing germline mutation(s) in,Assessed
714493,Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency,WIPF1,WAS/WASL interacting protein family member 1,Disease-causing germline mutation(s) in,Assessed
714407,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation,NFIB,nuclear factor I B,Disease-causing germline mutation(s) in,Assessed
714410,CARD8-related inflammatory bowel disease,CARD8,caspase recruitment domain family member 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
714399,Global developmental delay-dental enamel defects-ataxia syndrome,CTBP1,C-terminal binding protein 1,Disease-causing germline mutation(s) in,Assessed
714472,Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome,BACH2,BACH transcriptional regulator 2,Disease-causing germline mutation(s) in,Assessed
714413,9p23p22.2 microdeletion syndrome,NFIB,nuclear factor I B,Role in the phenotype of,Assessed
714423,Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome,STXBP3,syntaxin binding protein 3,Disease-causing germline mutation(s) in,Assessed
715128,Hemoglobin E-beta-thalassemia major,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
715125,Hemoglobin E-beta-thalassemia intermedia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
714806,Multifocal sporadic venous malformation,TEK,TEK receptor tyrosine kinase,Disease-causing somatic mutation(s) in,Assessed
714737,Diffuse capillary malformation with overgrowth,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
714737,Diffuse capillary malformation with overgrowth,GNA11,G protein subunit alpha 11,Disease-causing somatic mutation(s) in,Assessed
715154,Low oxygen affinity alpha chain hemoglobin disease,HBA2,hemoglobin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
715157,Low oxygen affinity beta chain hemoglobin disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
715135,Hemoglobin Lepore-beta-thalassemia intermedia,HBB,hemoglobin subunit beta,Part of a fusion gene in,Assessed
715140,Hemoglobin Lepore-beta-thalassemia major,HBB,hemoglobin subunit beta,Part of a fusion gene in,Assessed
715143,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
715143,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,HBA2,hemoglobin subunit alpha 2,Role in the phenotype of,Assessed
715143,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,HBA1,hemoglobin subunit alpha 1,Role in the phenotype of,Assessed
715640,Rothmund-Thomson syndrome type 3,CRIPT,CXXC repeat containing interactor of PDZ3 domain,Disease-causing germline mutation(s) in,Assessed
715635,Rothmund-Thomson syndrome type 4,DNA2,DNA replication helicase/nuclease 2,Disease-causing germline mutation(s) in,Assessed
715623,Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome,RFC4,replication factor C subunit 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
718017,Combined immunodeficiency due to COPG1 deficiency,COPG1,coat protein complex I subunit gamma 1,Disease-causing germline mutation(s) in,Assessed
694963,Inflammatory breast cancer,BRCA1,BRCA1 DNA repair associated,Major susceptibility factor in,Assessed
694963,Inflammatory breast cancer,BRCA2,BRCA2 DNA repair associated,Major susceptibility factor in,Assessed
694946,Alazami-Yuan syndrome,TAF6,TATA-box binding protein associated factor 6,Disease-causing germline mutation(s) in,Assessed
694956,Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome,ZBTB7A,zinc finger and BTB domain containing 7A,Disease-causing germline mutation(s) in,Assessed
694356,ADAR-related hereditary spastic paraplegia,ADAR,adenosine deaminase RNA specific,Disease-causing germline mutation(s) in,Assessed
694937,Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency,NUDT2,nudix hydrolase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
694922,Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome,ADPRS,ADP-ribosylserine hydrolase,Disease-causing germline mutation(s) in,Assessed
693912,EPHB4-related capillary malformation-arteriovenous malformation,EPHB4,EPH receptor B4,Disease-causing germline mutation(s) in,Assessed
693907,RASA1-related capillary malformation-arteriovenous malformation,RASA1,RAS p21 protein activator 1,Disease-causing germline mutation(s) in,Assessed
694308,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation,ZMYND11,zinc finger MYND-type containing 11,Disease-causing germline mutation(s) in,Assessed
696189,Congenital generalized lipodystrophy type 1,AGPAT2,1-acylglycerol-3-phosphate O-acyltransferase 2,Disease-causing germline mutation(s) in,Assessed
696206,Congenital generalized lipodystrophy type 3,CAV1,caveolin 1,Disease-causing germline mutation(s) in,Assessed
696242,PPARG-associated congenital generalized lipodystrophy,PPARG,peroxisome proliferator activated receptor gamma,Disease-causing germline mutation(s) in,Assessed
696289,Congenital generalized lipodystrophy type 2,BSCL2,"BSCL2 lipid droplet biogenesis associated, seipin",Disease-causing germline mutation(s) in,Assessed
695783,EDEM3-CDG,EDEM3,ER degradation enhancing alpha-mannosidase like protein 3,Disease-causing germline mutation(s) in,Assessed
695807,Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome,SYK,spleen associated tyrosine kinase,Disease-causing germline mutation(s) (gain of function) in,Assessed
696063,PLIN4-related distal myopathy,PLIN4,perilipin 4,Disease-causing germline mutation(s) in,Assessed
695147,Sickle cell-beta plus-thalassemia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
695183,Late-onset combined immunodeficiency due to ICOS deficiency,ICOS,inducible T cell costimulator,Disease-causing germline mutation(s) in,Assessed
695172,Combined immunodeficiency due to dimerization defective IKAROS mutation,IKZF1,IKAROS family zinc finger 1,Disease-causing germline mutation(s) in,Assessed
695191,Late-onset combined immunodeficiency due to ICOSL deficiency,ICOSLG,inducible T cell costimulator ligand,Disease-causing germline mutation(s) in,Assessed
695110,MAN2B2-CDG,MAN2B2,mannosidase alpha class 2B member 2,Disease-causing germline mutation(s) in,Assessed
695140,Sickle cell-beta zero-thalassemia,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
104077,Myopathic intestinal pseudoobstruction,ACTG2,"actin gamma 2, smooth muscle",Disease-causing germline mutation(s) in,Assessed
697067,Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome,BCAS3,BCAS3 microtubule associated cell migration factor,Disease-causing germline mutation(s) in,Assessed
696942,Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency,ARHGEF1,Rho guanine nucleotide exchange factor 1,Disease-causing germline mutation(s) in,Assessed
696945,X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency,SH3KBP1,SH3 domain containing kinase binding protein 1,Disease-causing germline mutation(s) in,Assessed
696931,Common variable immunodeficiency phenotype due to TWEAK deficiency,TNFSF12,TNF superfamily member 12,Disease-causing germline mutation(s) in,Assessed
696925,Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency,TNFRSF13C,TNF receptor superfamily member 13C,Disease-causing germline mutation(s) in,Assessed
696907,Common variable immunodeficiency phenotype due to homozygous TACI deficiency,TNFRSF13B,TNF receptor superfamily member 13B,Disease-causing germline mutation(s) in,Assessed
103918,Tropical pancreatitis,SPINK1,serine peptidase inhibitor Kazal type 1,Major susceptibility factor in,Assessed
103918,Tropical pancreatitis,CTRC,chymotrypsin C,Major susceptibility factor in,Assessed
696904,Common variable immunodeficiency phenotype due to IRF2BP2 deficiency,IRF2BP2,interferon regulatory factor 2 binding protein 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
696894,Common variable immunodeficiency phenotype due to CD21 deficiency,CR2,complement C3d receptor 2,Disease-causing germline mutation(s) in,Assessed
103908,Congenital sodium diarrhea,GUCY2C,guanylate cyclase 2C,Disease-causing germline mutation(s) in,Assessed
103908,Congenital sodium diarrhea,SLC9A3,solute carrier family 9 member A3,Disease-causing germline mutation(s) (loss of function) in,Assessed
696881,Common variable immunodeficiency phenotype due to CD19/CD81 deficiency,CD19,CD19 molecule,Disease-causing germline mutation(s) in,Assessed
696881,Common variable immunodeficiency phenotype due to CD19/CD81 deficiency,CD81,CD81 molecule,Disease-causing germline mutation(s) in,Assessed
103909,Trehalase deficiency,TREH,trehalase,Disease-causing germline mutation(s) in,Not yet assessed
696874,NFKB1-related immune dysregulation,NFKB1,nuclear factor kappa B subunit 1,Disease-causing germline mutation(s) in,Assessed
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,RUNX1,RUNX family transcription factor 1,Part of a fusion gene in,Assessed
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,FLT3,fms related receptor tyrosine kinase 3,Biomarker tested in,Assessed
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,CEBPA,CCAAT enhancer binding protein alpha,Biomarker tested in,Assessed
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,RUNX1T1,RUNX1 partner transcriptional co-repressor 1,Part of a fusion gene in,Assessed
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,KIT,"KIT proto-oncogene, receptor tyrosine kinase",Biomarker tested in,Assessed
697764,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation,CNOT2,CCR4-NOT transcription complex subunit 2,Disease-causing germline mutation(s) in,Assessed
697414,Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation,IKZF1,IKAROS family zinc finger 1,Disease-causing germline mutation(s) in,Assessed
697734,ST3GAL3-CDG,ST3GAL3,"ST3 beta-galactoside alpha-2,3-sialyltransferase 3",Disease-causing germline mutation(s) in,Assessed
697417,Common variable immunodeficiency phenotype due to SEC61A1 deficiency,SEC61A1,SEC61 translocon subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
697394,Combined immunodeficiency due to c-REL deficiency,REL,"REL proto-oncogene, NF-kB subunit",Disease-causing germline mutation(s) in,Assessed
697403,Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency,CHUK,component of inhibitor of nuclear factor kappa B kinase complex,Disease-causing germline mutation(s) in,Assessed
697356,Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome,FOSL2,"FOS like 2, AP-1 transcription factor subunit",Disease-causing germline mutation(s) in,Assessed
697389,Combined immunodeficiency due to HELIOS deficiency,IKZF2,IKAROS family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,SCN2A,sodium voltage-gated channel alpha subunit 2,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,CDKL5,cyclin dependent kinase like 5,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,ARX,aristaless related homeobox,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,PIGA,phosphatidylinositol glycan anchor biosynthesis class A,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,SPTAN1,"spectrin alpha, non-erythrocytic 1",Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,PLCB1,phospholipase C beta 1,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,GRIN2B,glutamate ionotropic receptor NMDA type subunit 2B,Disease-causing germline mutation(s) (gain of function) in,Assessed
697160,Infantile epileptic spasms syndrome,WDR45,WD repeat domain 45,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,NTRK2,neurotrophic receptor tyrosine kinase 2,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,SIK1,salt inducible kinase 1,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,GUF1,GTP binding elongation factor GUF1,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,CNPY3,canopy FGF signaling regulator 3,Disease-causing germline mutation(s) in,Assessed
697160,Infantile epileptic spasms syndrome,PHACTR1,phosphatase and actin regulator 1,Disease-causing germline mutation(s) in,Assessed
699593,Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency,IKZF3,IKAROS family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
699590,Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency,IKZF3,IKAROS family zinc finger 3,Disease-causing germline mutation(s) in,Assessed
699605,NEMO deleted exon 5 autoinflammatory syndrome,IKBKG,inhibitor of nuclear factor kappa B kinase regulatory subunit gamma,Disease-causing germline mutation(s) in,Assessed
699599,ICHAD syndrome,IKZF2,IKAROS family zinc finger 2,Disease-causing germline mutation(s) in,Assessed
699618,Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency,IFNG,interferon gamma,Disease-causing germline mutation(s) (loss of function) in,Assessed
699615,Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency,IRF1,interferon regulatory factor 1,Disease-causing germline mutation(s) in,Assessed
698085,Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome,TMEM147,transmembrane protein 147,Disease-causing germline mutation(s) in,Assessed
698090,Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome,BRPF1,bromodomain and PHD finger containing 1,Disease-causing germline mutation(s) in,Assessed
699822,Sickle cell S-Lepore disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
699822,Sickle cell S-Lepore disease,HBD,hemoglobin subunit delta,Disease-causing germline mutation(s) in,Assessed
699850,2p25.3 microduplication syndrome,MYT1L,myelin transcription factor 1 like,Role in the phenotype of,Assessed
699850,2p25.3 microduplication syndrome,PXDN,peroxidasin,Role in the phenotype of,Assessed
700090,Sickle cell S-O Arab disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
700111,Homozygous hemoglobin O Arab disease,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
700107,Sickle cell S-other specified hemoglobin variant,HBB,hemoglobin subunit beta,Disease-causing germline mutation(s) in,Assessed
700124,Autosomal recessive hereditary chronic pancreatitis,SPINK1,serine peptidase inhibitor Kazal type 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
700124,Autosomal recessive hereditary chronic pancreatitis,CFTR,CF transmembrane conductance regulator,Candidate gene tested in,Not yet assessed
699708,CLN14 disease,KCTD7,potassium channel tetramerization domain containing 7,Disease-causing germline mutation(s) in,Assessed
699718,Infantile CLN1 disease,PPT1,palmitoyl-protein thioesterase 1,Disease-causing germline mutation(s) in,Assessed
699734,Late infantile CLN1 disease,PPT1,palmitoyl-protein thioesterase 1,Disease-causing germline mutation(s) in,Assessed
699739,Juvenile CLN1 disease,PPT1,palmitoyl-protein thioesterase 1,Disease-causing germline mutation(s) in,Assessed
699745,Adult CLN1 disease,PPT1,palmitoyl-protein thioesterase 1,Disease-causing germline mutation(s) in,Assessed
699751,Infantile CLN2 disease,TPP1,tripeptidyl peptidase 1,Disease-causing germline mutation(s) in,Assessed
699761,Late infantile CLN2 disease,TPP1,tripeptidyl peptidase 1,Disease-causing germline mutation(s) in,Assessed
699769,Juvenile CLN2 disease,TPP1,tripeptidyl peptidase 1,Disease-causing germline mutation(s) in,Assessed
699780,Juvenile CLN3 disease,CLN3,"CLN3 lysosomal/endosomal transmembrane protein, battenin",Disease-causing germline mutation(s) in,Assessed
699796,Protracted juvenile CLN3 disease,CLN3,"CLN3 lysosomal/endosomal transmembrane protein, battenin",Disease-causing germline mutation(s) in,Assessed
699802,Late infantile CLN5 disease,CLN5,CLN5 lysosomal BMP synthase,Disease-causing germline mutation(s) in,Assessed
699807,Juvenile CLN5 disease,CLN5,CLN5 lysosomal BMP synthase,Disease-causing germline mutation(s) in,Assessed
699812,Adult CLN5 disease,CLN5,CLN5 lysosomal BMP synthase,Disease-causing germline mutation(s) in,Assessed
700508,Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy,SORD,sorbitol dehydrogenase,Disease-causing germline mutation(s) (loss of function) in,Assessed
700497,Juvenile CLN10 disease,CTSD,cathepsin D,Disease-causing germline mutation(s) in,Assessed
700492,Late infantile CLN10 disease,CTSD,cathepsin D,Disease-causing germline mutation(s) in,Assessed
700487,Congenital CLN10 disease,CTSD,cathepsin D,Disease-causing germline mutation(s) in,Assessed
700484,Late infantile CLN8 disease,CLN8,CLN8 transmembrane ER and ERGIC protein,Disease-causing germline mutation(s) in,Assessed
700477,Adult CLN6 disease,CLN6,CLN6 transmembrane ER protein,Disease-causing germline mutation(s) in,Assessed
700472,Juvenile CLN6 disease,CLN6,CLN6 transmembrane ER protein,Disease-causing germline mutation(s) in,Assessed
700188,Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy,RYR1,ryanodine receptor 1,Disease-causing germline mutation(s) in,Assessed
101351,Familial isolated congenital asplenia,NKX2-5,NK2 homeobox 5,Disease-causing germline mutation(s) in,Assessed
101351,Familial isolated congenital asplenia,RPSA,ribosomal protein SA,Disease-causing germline mutation(s) in,Assessed
700170,DNAJB4-related distal myopathy,DNAJB4,DnaJ heat shock protein family (Hsp40) member B4,Disease-causing germline mutation(s) in,Assessed
700163,SMPX-related distal myopathy,SMPX,small muscle protein X-linked,Disease-causing germline mutation(s) (gain of function) in,Assessed
700154,TARDBP-related predominantly upper-limb distal myopathy,TARDBP,TAR DNA binding protein,Disease-causing germline mutation(s) in,Assessed
700467,Late infantile CLN6 disease,CLN6,CLN6 transmembrane ER protein,Disease-causing germline mutation(s) in,Assessed
700333,Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency,UNC80,unc-80 subunit of NALCN channel complex,Disease-causing germline mutation(s) (loss of function) in,Assessed
700336,Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency,NALCN,"sodium leak channel, non-selective",Disease-causing germline mutation(s) in,Assessed
700325,NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome,NKAP,NFKB activating protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
700205,Combined immunodeficiency due to IKBKB gain-of-function mutation,IKBKB,inhibitor of nuclear factor kappa B kinase subunit beta,Disease-causing germline mutation(s) (gain of function) in,Assessed
708043,Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples,LEF1,lymphoid enhancer binding factor 1,Disease-causing germline mutation(s) in,Assessed
708036,Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth,KREMEN1,kringle containing transmembrane protein 1,Disease-causing germline mutation(s) in,Assessed
708019,Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome,PRKD1,protein kinase D1,Disease-causing germline mutation(s) in,Assessed
708014,Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment,IRF6,interferon regulatory factor 6,Disease-causing germline mutation(s) in,Assessed
708171,Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy,WWOX,WW domain containing oxidoreductase,Disease-causing germline mutation(s) in,Assessed
708166,Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome,TM2D3,TM2 domain containing 3,Disease-causing germline mutation(s) in,Assessed
708178,Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome,ZNF148,zinc finger protein 148,Disease-causing germline mutation(s) in,Assessed
708126,DNAJB6-related distal myopathy,DNAJB6,DnaJ heat shock protein family (Hsp40) member B6,Disease-causing germline mutation(s) in,Assessed
708123,Autosomal dominant distal nebulin myopathy,NEB,nebulin,Disease-causing germline mutation(s) in,Assessed
708133,Autosomal dominant ACTN2-related distal myopathy,ACTN2,actinin alpha 2,Disease-causing germline mutation(s) in,Assessed
708129,Autosomal recessive ACTN2-related distal myopathy,ACTN2,actinin alpha 2,Disease-causing germline mutation(s) in,Assessed
707792,Unstable gamma globin chain variant disease,HBG2,hemoglobin subunit gamma 2,Disease-causing germline mutation(s) in,Assessed
707937,Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome,PIEZO2,piezo type mechanosensitive ion channel component 2,Disease-causing germline mutation(s) in,Assessed
707983,Early-onset autosomal recessive TTN-related distal myopathy,TTN,titin,Disease-causing germline mutation(s) in,Assessed
707789,Unstable alpha globin chain variant disease,HBA2,hemoglobin subunit alpha 2,Disease-causing germline mutation(s) in,Assessed
707789,Unstable alpha globin chain variant disease,HBA1,hemoglobin subunit alpha 1,Disease-causing germline mutation(s) in,Assessed
664511,"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency",AP3D1,adaptor related protein complex 3 subunit delta 1,Disease-causing germline mutation(s) in,Assessed
101150,Autosomal recessive dopa-responsive dystonia,TH,tyrosine hydroxylase,Disease-causing germline mutation(s) in,Assessed
101150,Autosomal recessive dopa-responsive dystonia,TSPOAP1,TSPO associated protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
664500,Hermansky-Pudlak syndrome due to AP3B1 deficiency,AP3B1,adaptor related protein complex 3 subunit beta 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
101111,Spinocerebellar ataxia type 25,SCA25,spinocerebellar ataxia 25,Disease-causing germline mutation(s) in,Assessed
101111,Spinocerebellar ataxia type 25,PNPT1,polyribonucleotide nucleotidyltransferase 1,Disease-causing germline mutation(s) in,Assessed
101112,Spinocerebellar ataxia type 26,EEF2,eukaryotic translation elongation factor 2,Disease-causing germline mutation(s) in,Assessed
101109,Spinocerebellar ataxia type 28,AFG3L2,AFG3 like matrix AAA peptidase subunit 2,Disease-causing germline mutation(s) in,Assessed
664438,Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome,KCNMA1,potassium calcium-activated channel subfamily M alpha 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
101110,Spinocerebellar ataxia type 20,SCA20,spinocerebellar ataxia 20,Disease-causing germline mutation(s) in,Assessed
101108,Spinocerebellar ataxia type 23,PDYN,prodynorphin,Disease-causing germline mutation(s) in,Assessed
664430,Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome,SLC4A10,solute carrier family 4 member 10,Disease-causing germline mutation(s) in,Assessed
664416,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation,MEF2C,myocyte enhancer factor 2C,Disease-causing germline mutation(s) (loss of function) in,Assessed
665058,Common arterial trunk with pulmonary dominance and interrupted aortic arch,TBX1,T-box transcription factor 1,Disease-causing germline mutation(s) in,Assessed
665058,Common arterial trunk with pulmonary dominance and interrupted aortic arch,GATA6,GATA binding protein 6,Disease-causing germline mutation(s) in,Assessed
665044,Common arterial trunk with aortic dominance,TBX1,T-box transcription factor 1,Disease-causing germline mutation(s) in,Assessed
665044,Common arterial trunk with aortic dominance,GATA6,GATA binding protein 6,Disease-causing germline mutation(s) in,Assessed
664729,EBV-induced lymphoproliferative disease due to TET2 deficiency,TET2,tet methylcytosine dioxygenase 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
664726,EBV-induced lymphoproliferative disease due to CD137 deficiency,TNFRSF9,TNF receptor superfamily member 9,Disease-causing germline mutation(s) in,Assessed
664711,EBV-induced lymphoproliferative disease due to PRKCD deficiency,PRKCD,protein kinase C delta,Disease-causing germline mutation(s) (loss of function) in,Assessed
664699,EBV-induced lymphoproliferative disease due to RASGRP1 deficiency,RASGRP1,RAS guanyl releasing protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
101085,Charcot-Marie-Tooth disease type 1F,NEFL,neurofilament light chain,Disease-causing germline mutation(s) in,Assessed
101088,X-linked hyper-IgM syndrome,CD40LG,CD40 ligand,Disease-causing germline mutation(s) in,Assessed
101081,Charcot-Marie-Tooth disease type 1A,PMP22,peripheral myelin protein 22,Disease-causing germline mutation(s) in,Assessed
101082,Charcot-Marie-Tooth disease type 1B,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
101083,Charcot-Marie-Tooth disease type 1C,LITAF,lipopolysaccharide induced TNF factor,Disease-causing germline mutation(s) in,Assessed
101084,Charcot-Marie-Tooth disease type 1D,EGR2,early growth response 2,Disease-causing germline mutation(s) in,Assessed
101078,X-linked Charcot-Marie-Tooth disease type 4,AIFM1,apoptosis inducing factor mitochondria associated 1,Disease-causing germline mutation(s) in,Assessed
662234,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,SPEN,spen family transcriptional repressor,Disease-causing germline mutation(s) in,Assessed
662367,NESCAV syndrome,KIF1A,kinesin family member 1A,Disease-causing germline mutation(s) in,Assessed
662216,Mucopolysaccharidosis type 10,ARSK,arylsulfatase family member K,Disease-causing germline mutation(s) in,Assessed
662207,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,HNRNPH1,heterogeneous nuclear ribonucleoprotein H1,Disease-causing germline mutation(s) in,Assessed
101075,X-linked Charcot-Marie-Tooth disease type 1,GJB1,gap junction protein beta 1,Disease-causing germline mutation(s) in,Assessed
101102,Charcot-Marie-Tooth disease type 2H,GDAP1,ganglioside induced differentiation associated protein 1,Candidate gene tested in,Not yet assessed
664401,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation,TAB2,TGF-beta activated kinase 1 (MAP3K7) binding protein 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
101101,Charcot-Marie-Tooth disease type 2B2,PNKP,polynucleotide kinase 3'-phosphatase,Disease-causing germline mutation(s) in,Assessed
664404,6q25.1 microdeletion syndrome,TAB2,TGF-beta activated kinase 1 (MAP3K7) binding protein 2,Role in the phenotype of,Assessed
101097,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,GDAP1,ganglioside induced differentiation associated protein 1,Disease-causing germline mutation(s) in,Assessed
662762,Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome,ARPC4,actin related protein 2/3 complex subunit 4,Disease-causing germline mutation(s) in,Assessed
101090,Hyper-IgM syndrome type 3,CD40,CD40 molecule,Disease-causing germline mutation(s) in,Assessed
101089,Hyper-IgM syndrome type 2,AICDA,activation induced cytidine deaminase,Disease-causing germline mutation(s) in,Assessed
662829,Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome,BCL11B,BCL11 transcription factor B,Disease-causing germline mutation(s) in,Assessed
101092,Hyper-IgM syndrome type 5,UNG,uracil DNA glycosylase,Disease-causing germline mutation(s) in,Assessed
675359,Anastomosing haemangioma,GNAQ,G protein subunit alpha q,Disease-causing somatic mutation(s) in,Assessed
675359,Anastomosing haemangioma,GNA14,G protein subunit alpha 14,Disease-causing somatic mutation(s) in,Assessed
675359,Anastomosing haemangioma,GNA11,G protein subunit alpha 11,Disease-causing somatic mutation(s) in,Assessed
675216,Spinocerebellar ataxia type 27B,FGF14,fibroblast growth factor 14,Disease-causing germline mutation(s) in,Assessed
101049,Familial hypocalciuric hypercalcemia type 2,GNA11,G protein subunit alpha 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
101050,Familial hypocalciuric hypercalcemia type 3,AP2S1,adaptor related protein complex 2 subunit sigma 1,Disease-causing germline mutation(s) in,Assessed
101041,Familial hypofibrinogenemia,FGA,fibrinogen alpha chain,Disease-causing germline mutation(s) in,Assessed
101041,Familial hypofibrinogenemia,FGB,fibrinogen beta chain,Disease-causing germline mutation(s) in,Assessed
101041,Familial hypofibrinogenemia,FGG,fibrinogen gamma chain,Disease-causing germline mutation(s) in,Assessed
101046,Epilepsy with auditory features,RELN,reelin,Disease-causing germline mutation(s) in,Assessed
101046,Epilepsy with auditory features,LGI1,leucine rich glioma inactivated 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
101046,Epilepsy with auditory features,MICAL1,"microtubule associated monooxygenase, calponin and LIM domain containing 1",Disease-causing germline mutation(s) in,Assessed
101068,Congenital stromal corneal dystrophy,DCN,decorin,Disease-causing germline mutation(s) in,Assessed
101068,Congenital stromal corneal dystrophy,SPARCL1,SPARC like 1,Disease-causing germline mutation(s) in,Assessed
675767,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,SRP54,signal recognition particle 54,Disease-causing germline mutation(s) (loss of function) in,Assessed
101070,Bilateral frontoparietal polymicrogyria,ADGRG1,adhesion G protein-coupled receptor G1,Disease-causing germline mutation(s) in,Assessed
675396,Epithelioid hemangioma,FOSB,"FosB proto-oncogene, AP-1 transcription factor subunit",Part of a fusion gene in,Assessed
675396,Epithelioid hemangioma,ZFP36L2,ZFP36 like 2 zinc finger CCCH-type,Part of a fusion gene in,Assessed
675396,Epithelioid hemangioma,LMNA,lamin A/C,Part of a fusion gene in,Assessed
675396,Epithelioid hemangioma,VIM,vimentin,Part of a fusion gene in,Assessed
675396,Epithelioid hemangioma,FOS,"Fos proto-oncogene, AP-1 transcription factor subunit",Part of a fusion gene in,Assessed
675628,TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome,TLR8,toll like receptor 8,Disease-causing germline mutation(s) (gain of function) in,Assessed
101063,Situs inversus totalis,ANKS3,ankyrin repeat and sterile alpha motif domain containing 3,Disease-causing germline mutation(s) in,Assessed
101063,Situs inversus totalis,NME7,NME/NM23 family member 7,Disease-causing germline mutation(s) in,Assessed
101063,Situs inversus totalis,CITED2,Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2,Major susceptibility factor in,Not yet assessed
101063,Situs inversus totalis,NODAL,nodal growth differentiation factor,Disease-causing germline mutation(s) in,Assessed
101063,Situs inversus totalis,CFAP53,cilia and flagella associated protein 53,Disease-causing germline mutation(s) in,Assessed
101063,Situs inversus totalis,CFAP52,cilia and flagella associated protein 52,Disease-causing germline mutation(s) in,Assessed
101063,Situs inversus totalis,MMP21,matrix metallopeptidase 21,Disease-causing germline mutation(s) (loss of function) in,Assessed
101063,Situs inversus totalis,PKD1L1,"polycystin 1 like 1, transient receptor potential channel interacting",Disease-causing germline mutation(s) in,Assessed
101063,Situs inversus totalis,DNAH9,dynein axonemal heavy chain 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
101063,Situs inversus totalis,CIROP,ciliated left-right organizer metallopeptidase,Disease-causing germline mutation(s) in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,JAK1,Janus kinase 1,Disease-causing somatic mutation(s) in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,JAK2,Janus kinase 2,Part of a fusion gene in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,STAT3,signal transducer and activator of transcription 3,Part of a fusion gene in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,STAT3,signal transducer and activator of transcription 3,Disease-causing somatic mutation(s) in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,BRCA1,BRCA1 DNA repair associated,Major susceptibility factor in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,BRCA2,BRCA2 DNA repair associated,Major susceptibility factor in,Assessed
667662,Breast implant-associated anaplastic large cell lymphoma,TP53,tumor protein p53,Major susceptibility factor in,Assessed
101023,Cleft hard palate,GRHL3,grainyhead like transcription factor 3,Major susceptibility factor in,Assessed
101023,Cleft hard palate,UBB,ubiquitin B,Candidate gene tested in,Not yet assessed
101009,Autosomal dominant spastic paraplegia type 29,SPG29,spastic paraplegia 29 (autosomal dominant),Disease-causing germline mutation(s) in,Assessed
101010,Autosomal spastic paraplegia type 30,KIF1A,kinesin family member 1A,Disease-causing germline mutation(s) in,Assessed
101011,Autosomal dominant spastic paraplegia type 31,REEP1,receptor accessory protein 1,Disease-causing germline mutation(s) in,Assessed
101016,Romano-Ward syndrome,TRDN,triadin,Disease-causing germline mutation(s) in,Assessed
101016,Romano-Ward syndrome,KCNH2,potassium voltage-gated channel subfamily H member 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,KCNQ1,potassium voltage-gated channel subfamily Q member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,CAV3,caveolin 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
101016,Romano-Ward syndrome,ANK2,ankyrin 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,KCNE1,potassium voltage-gated channel subfamily E regulatory subunit 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,KCNE2,potassium voltage-gated channel subfamily E regulatory subunit 2,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,SCN5A,sodium voltage-gated channel alpha subunit 5,Disease-causing germline mutation(s) (gain of function) in,Assessed
101016,Romano-Ward syndrome,AKAP9,A-kinase anchoring protein 9,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,SCN4B,sodium voltage-gated channel beta subunit 4,Disease-causing germline mutation(s) (gain of function) in,Assessed
101016,Romano-Ward syndrome,SNTA1,syntrophin alpha 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
101016,Romano-Ward syndrome,KCNJ5,potassium inwardly rectifying channel subfamily J member 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,NOS1AP,nitric oxide synthase 1 adaptor protein,Modifying germline mutation in,Assessed
101016,Romano-Ward syndrome,CALM1,calmodulin 1,Disease-causing germline mutation(s) in,Assessed
101016,Romano-Ward syndrome,CALM2,calmodulin 2,Disease-causing germline mutation(s) in,Assessed
101016,Romano-Ward syndrome,SCN10A,sodium voltage-gated channel alpha subunit 10,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,TBX5,T-box transcription factor 5,Disease-causing germline mutation(s) (loss of function) in,Assessed
101016,Romano-Ward syndrome,CACNA1C,calcium voltage-gated channel subunit alpha1 C,Disease-causing germline mutation(s) in,Assessed
101016,Romano-Ward syndrome,CALM3,calmodulin 3,Disease-causing germline mutation(s) in,Assessed
674653,Actinomyopathy-associated syndromic thrombocytopenia,ACTB,actin beta,Disease-causing germline mutation(s) in,Assessed
674762,Early-onset autoinflammatory syndrome due to A20 haploinsufficiency,TNFAIP3,TNF alpha induced protein 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
101028,Transaldolase deficiency,TALDO1,transaldolase 1,Disease-causing germline mutation(s) in,Assessed
673556,Pseudomyogenic hemangioendothelioma,FOSB,"FosB proto-oncogene, AP-1 transcription factor subunit",Part of a fusion gene in,Assessed
673556,Pseudomyogenic hemangioendothelioma,ACTB,actin beta,Part of a fusion gene in,Assessed
673556,Pseudomyogenic hemangioendothelioma,WWTR1,WW domain containing transcription regulator 1,Part of a fusion gene in,Assessed
673556,Pseudomyogenic hemangioendothelioma,SERPINE1,serpin family E member 1,Part of a fusion gene in,Assessed
100984,Autosomal dominant spastic paraplegia type 3,ATL1,atlastin GTPase 1,Disease-causing germline mutation(s) in,Assessed
685067,Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome,TSPEAR,thrombospondin type laminin G domain and EAR repeats,Disease-causing germline mutation(s) in,Assessed
685082,Pediatric acute respiratory distress syndrome,ABCA3,ATP binding cassette subfamily A member 3,Candidate gene tested in,Not yet assessed
685082,Pediatric acute respiratory distress syndrome,SFTPB,surfactant protein B,Major susceptibility factor in,Assessed
685082,Pediatric acute respiratory distress syndrome,SFTPC,surfactant protein C,Major susceptibility factor in,Assessed
685017,Combined immunodeficiency due to TBX1 deficiency,TBX1,T-box transcription factor 1,Disease-causing germline mutation(s) in,Assessed
100991,Autosomal dominant spastic paraplegia type 10,KIF5A,kinesin family member 5A,Disease-causing germline mutation(s) in,Assessed
686465,Fibrotic hypersensitivity pneumonitis,MUC5B,"mucin 5B, oligomeric mucus/gel-forming",Major susceptibility factor in,Assessed
100989,Autosomal dominant spastic paraplegia type 8,WASHC5,WASH complex subunit 5,Disease-causing germline mutation(s) in,Assessed
100988,Autosomal dominant spastic paraplegia type 6,NIPA1,NIPA magnesium transporter 1,Disease-causing germline mutation(s) in,Assessed
100986,Autosomal recessive spastic paraplegia type 5A,CYP7B1,cytochrome P450 family 7 subfamily B member 1,Disease-causing germline mutation(s) in,Assessed
100985,Autosomal dominant spastic paraplegia type 4,SPAST,spastin,Disease-causing germline mutation(s) in,Assessed
687424,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion,ZMYND11,zinc finger MYND-type containing 11,Role in the phenotype of,Assessed
100999,Autosomal dominant spastic paraplegia type 19,SPG19,spastic paraplegia 19 (autosomal dominant),Disease-causing germline mutation(s) in,Assessed
101000,Autosomal recessive spastic paraplegia type 20,SPART,spartin,Disease-causing germline mutation(s) in,Assessed
686999,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,PLAAT3,phospholipase A and acyltransferase 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
100997,X-linked spastic paraplegia type 16,SPG16,"spastic paraplegia 16 (complicated, X-linked recessive)",Disease-causing germline mutation(s) in,Assessed
100998,Autosomal dominant spastic paraplegia type 17,BSCL2,"BSCL2 lipid droplet biogenesis associated, seipin",Disease-causing germline mutation(s) in,Assessed
100995,Autosomal recessive spastic paraplegia type 14,SPG14,spastic paraplegia 14 (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
686495,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,MADD,MAP kinase activating death domain,Disease-causing germline mutation(s) in,Assessed
100996,Kjellin syndrome,ZFYVE26,zinc finger FYVE-type containing 26,Disease-causing germline mutation(s) in,Assessed
686488,RNU4-2-related autosomal dominant neurodevelopmental disorder,RNU4-2,"RNA, U4 small nuclear 2",Disease-causing germline mutation(s) in,Assessed
100993,Autosomal dominant spastic paraplegia type 12,UBAP1,ubiquitin associated protein 1,Disease-causing germline mutation(s) in,Assessed
100993,Autosomal dominant spastic paraplegia type 12,RTN2,reticulon 2,Disease-causing germline mutation(s) in,Assessed
686482,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,BPTF,bromodomain PHD finger transcription factor,Disease-causing germline mutation(s) in,Assessed
100994,Autosomal dominant spastic paraplegia type 13,HSPD1,heat shock protein family D (Hsp60) member 1,Disease-causing germline mutation(s) in,Assessed
101007,Autosomal recessive spastic paraplegia type 27,SPG27,spastic paraplegia 27 (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
688543,Reticular dysgenesis-like severe combined immunodeficiency,RAC2,Rac family small GTPase 2,Disease-causing germline mutation(s) (gain of function) in,Assessed
101008,Autosomal recessive spastic paraplegia type 28,DDHD1,DDHD domain containing 1,Disease-causing germline mutation(s) in,Assessed
101005,Autosomal recessive spastic paraplegia type 25,SPG25,"spastic paraplegia 25 (autosomal recessive, with disc herniation)",Disease-causing germline mutation(s) in,Assessed
101006,Autosomal recessive spastic paraplegia type 26,B4GALNT1,"beta-1,4-N-acetyl-galactosaminyltransferase 1",Disease-causing germline mutation(s) in,Assessed
101003,Autosomal recessive spastic paraplegia type 23,DSTYK,dual serine/threonine and tyrosine protein kinase,Disease-causing germline mutation(s) in,Assessed
101003,Autosomal recessive spastic paraplegia type 23,SPG23,spastic paraplegia 23 (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
101004,Autosomal recessive spastic paraplegia type 24,SPG24,spastic paraplegia 24 (autosomal recessive),Disease-causing germline mutation(s) in,Assessed
101001,Autosomal recessive spastic paraplegia type 21,SPG21,"SPG21 abhydrolase domain containing, maspardin",Disease-causing germline mutation(s) in,Assessed
675775,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,RBSN,"rabenosyn, RAB effector",Disease-causing germline mutation(s) in,Assessed
675782,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,RBSN,"rabenosyn, RAB effector",Disease-causing germline mutation(s) (loss of function) in,Assessed
676039,Combined immunodeficiency due to FOXN1 haploinsufficiency,FOXN1,forkhead box N1,Disease-causing germline mutation(s) in,Assessed
676125,X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency,ELF4,E74 like ETS transcription factor 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
100093,Carcinoid syndrome,SDHD,succinate dehydrogenase complex subunit D,Candidate gene tested in,Not yet assessed
100924,Porphyria due to ALA dehydratase deficiency,ALAD,aminolevulinate dehydratase,Disease-causing germline mutation(s) in,Assessed
684216,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,TET3,tet methylcytosine dioxygenase 3,Disease-causing germline mutation(s) in,Assessed
684305,Neurooculocardiogenitourinary syndrome,WDR37,WD repeat domain 37,Disease-causing germline mutation(s) (loss of function) in,Assessed
100973,FRAXE intellectual disability,AFF2,ALF transcription elongation factor 2,Disease-causing germline mutation(s) in,Assessed
100973,FRAXE intellectual disability,FMR3,fragile X mental retardation associated 3,Disease-causing germline mutation(s) in,Assessed
100974,FRAXF syndrome,TMEM185A,transmembrane protein 185A,Disease-causing germline mutation(s) in,Assessed
684742,2q13 microdeletion syndrome,FBLN7,fibulin 7,Role in the phenotype of,Assessed
684742,2q13 microdeletion syndrome,TMEM87B,transmembrane protein 87B,Role in the phenotype of,Assessed
100976,Bathing suit ichthyosis,TGM1,transglutaminase 1,Disease-causing germline mutation(s) in,Assessed
684232,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,SATB1,SATB homeobox 1,Disease-causing germline mutation(s) in,Assessed
684226,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,KMT5B,lysine methyltransferase 5B,Disease-causing germline mutation(s) in,Assessed
684247,Isolated growth hormone deficiency type IV,GHRHR,growth hormone releasing hormone receptor,Disease-causing germline mutation(s) in,Assessed
684240,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,YIF1B,"Yip1 interacting factor homolog B, membrane trafficking protein",Disease-causing germline mutation(s) (loss of function) in,Assessed
100054,F12-related hereditary angioedema with normal C1Inh,F12,coagulation factor XII,Disease-causing germline mutation(s) (gain of function) in,Assessed
100051,Hereditary angioedema type 2,SERPING1,serpin family G member 1,Disease-causing germline mutation(s) in,Assessed
100057,Renin-angiotensin-aldosterone system-blocker-induced angioedema,XPNPEP2,X-prolyl aminopeptidase 2,Major susceptibility factor in,Not yet assessed
692173,Marbach-Schaaf neurodevelopmental syndrome,PRKAR1B,protein kinase cAMP-dependent type I regulatory subunit beta,Disease-causing germline mutation(s) in,Assessed
692193,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,CHAMP1,chromosome alignment maintaining phosphoprotein 1,Disease-causing germline mutation(s) in,Assessed
692812,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,RAC2,Rac family small GTPase 2,Disease-causing germline mutation(s) in,Assessed
693549,Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome,MN1,"MN1 proto-oncogene, transcriptional regulator",Disease-causing germline mutation(s) (gain of function) in,Assessed
692790,ATP6AP1-CDG,ATP6AP1,ATPase H+ transporting accessory protein 1,Disease-causing germline mutation(s) in,Assessed
100069,Semantic dementia,PSEN1,presenilin 1,Disease-causing germline mutation(s) in,Assessed
100069,Semantic dementia,TMEM106B,transmembrane protein 106B,Major susceptibility factor in,Assessed
100069,Semantic dementia,CHMP2B,charged multivesicular body protein 2B,Major susceptibility factor in,Assessed
100069,Semantic dementia,TREM2,triggering receptor expressed on myeloid cells 2,Major susceptibility factor in,Assessed
100069,Semantic dementia,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
100069,Semantic dementia,GRN,granulin precursor,Major susceptibility factor in,Assessed
100069,Semantic dementia,C9ORF72,C9orf72-SMCR8 complex subunit,Major susceptibility factor in,Not yet assessed
693627,Agammaglobulinemia-skin involvement-failure to thrive syndrome,SLC39A7,solute carrier family 39 member 7,Disease-causing germline mutation(s) in,Assessed
100070,Progressive non-fluent aphasia,TMEM106B,transmembrane protein 106B,Major susceptibility factor in,Assessed
100070,Progressive non-fluent aphasia,PSEN1,presenilin 1,Disease-causing germline mutation(s) in,Assessed
100070,Progressive non-fluent aphasia,CHMP2B,charged multivesicular body protein 2B,Major susceptibility factor in,Assessed
100070,Progressive non-fluent aphasia,TREM2,triggering receptor expressed on myeloid cells 2,Major susceptibility factor in,Assessed
100070,Progressive non-fluent aphasia,VCP,valosin containing protein,Major susceptibility factor in,Not yet assessed
100070,Progressive non-fluent aphasia,MAPT,microtubule associated protein tau,Major susceptibility factor in,Assessed
100070,Progressive non-fluent aphasia,GRN,granulin precursor,Major susceptibility factor in,Assessed
100070,Progressive non-fluent aphasia,C9ORF72,C9orf72-SMCR8 complex subunit,Major susceptibility factor in,Not yet assessed
693681,Activated PI3K-delta syndrome 2,PIK3R1,phosphoinositide-3-kinase regulatory subunit 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
100075,Neuroendocrine tumor of stomach,ATRX,ATRX chromatin remodeler,Candidate gene tested in,Not yet assessed
693661,Activated PI3K-delta syndrome 1,PIK3CD,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",Disease-causing germline mutation(s) (gain of function) in,Assessed
693647,Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome,FNIP1,folliculin interacting protein 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
100020,Myelodysplastic neoplasm with increased blasts type 2,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
100019,Myelodysplastic neoplasm with increased blasts type 1,TET2,tet methylcytosine dioxygenase 2,Disease-causing somatic mutation(s) in,Assessed
688581,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,AMMECR1,AMMECR nuclear protein 1,Disease-causing germline mutation(s) in,Assessed
688594,Combined immunodeficiency due to RELB deficiency,RELB,"RELB proto-oncogene, NF-kB subunit",Disease-causing germline mutation(s) (loss of function) in,Assessed
688642,Turnpenny-Fry syndrome,PCGF2,polycomb group ring finger 2,Disease-causing germline mutation(s) in,Assessed
689021,Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome,ANO5,anoctamin 5,Disease-causing germline mutation(s) in,Assessed
100032,Hypocalcified amelogenesis imperfecta,RELT,RELT TNF receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
100032,Hypocalcified amelogenesis imperfecta,FAM83H,family with sequence similarity 83 member H,Disease-causing germline mutation(s) in,Assessed
100032,Hypocalcified amelogenesis imperfecta,SLC24A4,solute carrier family 24 member 4,Disease-causing germline mutation(s) in,Assessed
100032,Hypocalcified amelogenesis imperfecta,ITGB6,integrin subunit beta 6,Disease-causing germline mutation(s) in,Assessed
100032,Hypocalcified amelogenesis imperfecta,AMTN,amelotin,Disease-causing germline mutation(s) in,Assessed
100031,Hypoplastic amelogenesis imperfecta,ACP4,acid phosphatase 4,Disease-causing germline mutation(s) (loss of function) in,Assessed
100031,Hypoplastic amelogenesis imperfecta,SP6,Sp6 transcription factor,Disease-causing germline mutation(s) in,Assessed
100031,Hypoplastic amelogenesis imperfecta,ENAM,enamelin,Disease-causing germline mutation(s) in,Assessed
100031,Hypoplastic amelogenesis imperfecta,LAMB3,laminin subunit beta 3,Disease-causing germline mutation(s) in,Assessed
100031,Hypoplastic amelogenesis imperfecta,ITGB6,integrin subunit beta 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
100031,Hypoplastic amelogenesis imperfecta,AMBN,ameloblastin,Disease-causing germline mutation(s) in,Assessed
100034,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,DLX3,distal-less homeobox 3,Disease-causing germline mutation(s) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,GPR68,G protein-coupled receptor 68,Disease-causing germline mutation(s) (loss of function) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,AMELX,amelogenin X-linked,Disease-causing germline mutation(s) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,KLK4,kallikrein related peptidase 4,Disease-causing germline mutation(s) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,MMP20,matrix metallopeptidase 20,Disease-causing germline mutation(s) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,WDR72,WD repeat domain 72,Disease-causing germline mutation(s) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,ODAPH,odontogenesis associated phosphoprotein,Disease-causing germline mutation(s) (loss of function) in,Assessed
100033,Hypomaturation amelogenesis imperfecta,SLC24A4,solute carrier family 24 member 4,Disease-causing germline mutation(s) in,Assessed
689231,IFIH1-related hereditary spastic paraplegia,IFIH1,interferon induced with helicase C domain 1,Disease-causing germline mutation(s) in,Assessed
689234,RNASEH2B-related hereditary spastic paraplegia,RNASEH2B,ribonuclease H2 subunit B,Disease-causing germline mutation(s) in,Assessed
689397,Poirier-Bienvenu neurodevelopmental syndrome,CSNK2B,casein kinase 2 beta,Disease-causing germline mutation(s) in,Assessed
689408,Shashi-Pena syndrome,ASXL2,ASXL transcriptional regulator 2,Disease-causing germline mutation(s) in,Assessed
689430,Adenoid ameloblastoma,CTNNB1,catenin beta 1,Disease-causing somatic mutation(s) in,Assessed
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,DNM2,dynamin 2,Disease-causing germline mutation(s) in,Assessed
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,YARS1,tyrosyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
689829,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,RARB,retinoic acid receptor beta,Disease-causing germline mutation(s) in,Assessed
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
689822,Structural heart defects-renal anomalies syndrome,TMEM260,transmembrane protein 260,Disease-causing germline mutation(s) (loss of function) in,Assessed
100050,Hereditary angioedema type 1,SERPING1,serpin family G member 1,Disease-causing germline mutation(s) in,Assessed
647667,Mandibuloacral dysplasia associated to MTX2,MTX2,metaxin 2,Disease-causing germline mutation(s) in,Assessed
647676,Multiple epiphyseal dysplasia type 7,CANT1,calcium activated nucleotidase 1,Disease-causing germline mutation(s) in,Assessed
646113,Intermediate collagen VI-related muscular dystrophy,COL6A1,collagen type VI alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
646113,Intermediate collagen VI-related muscular dystrophy,COL6A2,collagen type VI alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
646113,Intermediate collagen VI-related muscular dystrophy,COL6A3,collagen type VI alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
646278,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,CDK13,cyclin dependent kinase 13,Disease-causing germline mutation(s) in,Assessed
100008,ACys amyloidosis,CST3,cystatin C,Disease-causing germline mutation(s) in,Assessed
100006,"ABeta amyloidosis, Dutch type",APP,amyloid beta precursor protein,Disease-causing germline mutation(s) in,Assessed
99989,Intermediate DEND syndrome,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) (gain of function) in,Assessed
99977,Squamous cell carcinoma of the esophagus,WWOX,WW domain containing oxidoreductase,Major susceptibility factor in,Assessed
99977,Squamous cell carcinoma of the esophagus,RNF6,ring finger protein 6,Candidate gene tested in,Not yet assessed
99977,Squamous cell carcinoma of the esophagus,TGFBR2,transforming growth factor beta receptor 2,Candidate gene tested in,Not yet assessed
99977,Squamous cell carcinoma of the esophagus,DLEC1,DLEC1 cilia and flagella associated protein,Candidate gene tested in,Not yet assessed
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,ERBB2,erb-b2 receptor tyrosine kinase 2,Biomarker tested in,Assessed
99971,Well-differentiated liposarcoma,CDK4,cyclin dependent kinase 4,Role in the phenotype of,Assessed
99971,Well-differentiated liposarcoma,HMGA2,high mobility group AT-hook 2,Role in the phenotype of,Assessed
99971,Well-differentiated liposarcoma,MDM2,MDM2 proto-oncogene,Role in the phenotype of,Assessed
99970,Dedifferentiated liposarcoma,CDK4,cyclin dependent kinase 4,Role in the phenotype of,Assessed
99970,Dedifferentiated liposarcoma,HMGA2,high mobility group AT-hook 2,Role in the phenotype of,Assessed
99970,Dedifferentiated liposarcoma,MDM2,MDM2 proto-oncogene,Role in the phenotype of,Assessed
99967,Myxoid/round cell liposarcoma,FUS,FUS RNA binding protein,Part of a fusion gene in,Assessed
99967,Myxoid/round cell liposarcoma,DDIT3,DNA damage inducible transcript 3,Part of a fusion gene in,Assessed
99966,Atypical teratoid rhabdoid tumor,SMARCB1,SWI/SNF related BAF chromatin remodeling complex subunit B1,Disease-causing somatic mutation(s) in,Assessed
99961,Benign recurrent intrahepatic cholestasis type 2,ABCB11,ATP binding cassette subfamily B member 11,Disease-causing germline mutation(s) in,Assessed
99960,Benign recurrent intrahepatic cholestasis type 1,ATP8B1,ATPase phospholipid transporting 8B1,Disease-causing germline mutation(s) in,Assessed
643538,Hao-Fountain syndrome due to USP7 mutation,USP7,ubiquitin specific peptidase 7,Disease-causing germline mutation(s) in,Assessed
643503,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,ABL1,"ABL proto-oncogene 1, non-receptor tyrosine kinase",Disease-causing germline mutation(s) in,Assessed
99955,Charcot-Marie-Tooth disease type 4B1,MTMR2,myotubularin related protein 2,Disease-causing germline mutation(s) in,Assessed
99956,Charcot-Marie-Tooth disease type 4B2,SBF2,SET binding factor 2,Disease-causing germline mutation(s) in,Assessed
99948,Charcot-Marie-Tooth disease type 4A,GDAP1,ganglioside induced differentiation associated protein 1,Disease-causing germline mutation(s) in,Assessed
99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,MFN2,mitofusin 2,Disease-causing germline mutation(s) in,Assessed
99950,Charcot-Marie-Tooth disease type 4D,NDRG1,N-myc downstream regulated 1,Disease-causing germline mutation(s) in,Assessed
99949,Charcot-Marie-Tooth disease type 4C,SH3TC2,SH3 domain and tetratricopeptide repeats 2,Disease-causing germline mutation(s) in,Assessed
99952,Charcot-Marie-Tooth disease type 4F,PRX,periaxin,Disease-causing germline mutation(s) in,Assessed
99951,Charcot-Marie-Tooth disease type 4E,EGR2,early growth response 2,Disease-causing germline mutation(s) in,Assessed
99954,Charcot-Marie-Tooth disease type 4H,FGD4,"FYVE, RhoGEF and PH domain containing 4",Disease-causing germline mutation(s) (loss of function) in,Assessed
99953,Charcot-Marie-Tooth disease type 4G,HK1,hexokinase 1,Disease-causing germline mutation(s) in,Assessed
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,HSPB1,heat shock protein family B (small) member 1,Disease-causing germline mutation(s) in,Assessed
99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,NEFL,neurofilament light chain,Disease-causing germline mutation(s) in,Assessed
99942,Autosomal dominant Charcot-Marie-Tooth disease type 2I,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,GDAP1,ganglioside induced differentiation associated protein 1,Disease-causing germline mutation(s) in,Assessed
99943,Autosomal dominant Charcot-Marie-Tooth disease type 2J,MPZ,myelin protein zero,Disease-causing germline mutation(s) in,Assessed
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,KIF1B,kinesin family member 1B,Disease-causing germline mutation(s) (loss of function) in,Assessed
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,HSPB8,heat shock protein family B (small) member 8,Disease-causing germline mutation(s) in,Assessed
99936,Autosomal dominant Charcot-Marie-Tooth disease type 2B,RAB7A,"RAB7A, member RAS oncogene family",Disease-causing germline mutation(s) in,Assessed
99937,Autosomal dominant Charcot-Marie-Tooth disease type 2C,TRPV4,transient receptor potential cation channel subfamily V member 4,Disease-causing germline mutation(s) in,Assessed
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,GARS1,glycyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
648562,Ferroportin disease,SLC40A1,solute carrier family 40 member 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
648581,Digenic hemochromatosis,HFE,homeostatic iron regulator,Disease-causing germline mutation(s) in,Assessed
648581,Digenic hemochromatosis,HJV,hemojuvelin BMP co-receptor,Disease-causing germline mutation(s) in,Assessed
648581,Digenic hemochromatosis,HAMP,hepcidin antimicrobial peptide,Disease-causing germline mutation(s) in,Assessed
648581,Digenic hemochromatosis,TFR2,transferrin receptor 2,Disease-causing germline mutation(s) in,Assessed
99916,Malignant Sertoli-Leydig cell tumor of the ovary,DICER1,"dicer 1, ribonuclease III",Major susceptibility factor in,Assessed
99915,Malignant granulosa cell tumor of the ovary,FOXL2,forkhead box L2,Disease-causing somatic mutation(s) in,Assessed
99915,Malignant granulosa cell tumor of the ovary,DICER1,"dicer 1, ribonuclease III",Major susceptibility factor in,Assessed
99914,Gynandroblastoma,DICER1,"dicer 1, ribonuclease III",Major susceptibility factor in,Assessed
647815,Keratitis fugax hereditaria,NLRP3,NLR family pyrin domain containing 3,Disease-causing germline mutation(s) in,Assessed
99901,Acyl-CoA dehydrogenase 9 deficiency,ACAD9,acyl-CoA dehydrogenase family member 9,Disease-causing germline mutation(s) in,Assessed
647811,Cardiac-urogenital syndrome,MYRF,myelin regulatory factor,Disease-causing germline mutation(s) in,Assessed
647804,Combined immunodeficiency due to FCHO1 deficiency,FCHO1,FCH and mu domain containing endocytic adaptor 1,Disease-causing germline mutation(s) in,Assessed
647834,SLC40A1-related hemochromatosis,SLC40A1,solute carrier family 40 member 1,Disease-causing germline mutation(s) (gain of function) in,Assessed
647772,Isolated primary pigmented nodular adrenocortical disease,PRKAR1A,protein kinase cAMP-dependent type I regulatory subunit alpha,Disease-causing germline mutation(s) in,Assessed
647772,Isolated primary pigmented nodular adrenocortical disease,PDE11A,phosphodiesterase 11A,Disease-causing germline mutation(s) in,Assessed
647681,Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome,ERF,ETS2 repressor factor,Disease-causing germline mutation(s) in,Assessed
647799,MYT1L-related developmental delay-intellectual disability-obesity syndrome,MYT1L,myelin transcription factor 1 like,Disease-causing germline mutation(s) (loss of function) in,Assessed
99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,IFNGR1,interferon gamma receptor 1,Disease-causing germline mutation(s) in,Assessed
647788,Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome,DHX30,DExH-box helicase 30,Disease-causing germline mutation(s) in,Assessed
647782,Isolated micronodular adrenocortical disease,PDE11A,phosphodiesterase 11A,Disease-causing germline mutation(s) in,Assessed
647782,Isolated micronodular adrenocortical disease,PDE8B,phosphodiesterase 8B,Disease-causing germline mutation(s) in,Assessed
99879,Familial isolated hyperparathyroidism,GCM2,glial cells missing transcription factor 2,Disease-causing germline mutation(s) in,Assessed
99879,Familial isolated hyperparathyroidism,CDC73,cell division cycle 73,Disease-causing germline mutation(s) in,Assessed
99879,Familial isolated hyperparathyroidism,MEN1,menin 1,Disease-causing germline mutation(s) in,Assessed
656283,Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency,IL6ST,interleukin 6 cytokine family signal transducer,Disease-causing germline mutation(s) (loss of function) in,Assessed
656279,1p36.33 duplication syndrome,ATAD3A,ATPase family AAA domain containing 3A,Role in the phenotype of,Assessed
656279,1p36.33 duplication syndrome,ATAD3B,ATPase family AAA domain containing 3B,Role in the phenotype of,Assessed
656279,1p36.33 duplication syndrome,ATAD3C,ATPase family AAA domain containing 3C,Role in the phenotype of,Assessed
99880,Hyperparathyroidism-jaw tumor syndrome,CDC73,cell division cycle 73,Disease-causing germline mutation(s) (gain of function) in,Assessed
656313,Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency,IL6ST,interleukin 6 cytokine family signal transducer,Disease-causing germline mutation(s) (loss of function) in,Assessed
656300,Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency,IL6ST,interleukin 6 cytokine family signal transducer,Disease-causing germline mutation(s) in,Assessed
656130,PBX1-related congenital anomalies of kidney-urinary tract syndrome,PBX1,PBX homeobox 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
656135,Intellectual disability-cupped ears syndrome,POU3F3,POU class 3 homeobox 3,Disease-causing germline mutation(s) in,Assessed
99887,Acute megakaryoblastic leukemia in children with Down syndrome,GATA1,GATA binding protein 1,Disease-causing somatic mutation(s) in,Assessed
656912,Autosomal dominant combined immunodeficiency due to ERBIN deficiency,ERBIN,erbb2 interacting protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
656326,Autosomal recessive combined immunodeficiency due to IL6R deficiency,IL6R,interleukin 6 receptor,Disease-causing germline mutation(s) in,Assessed
99885,Isolated permanent neonatal diabetes mellitus,STAT3,signal transducer and activator of transcription 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
99885,Isolated permanent neonatal diabetes mellitus,GCK,glucokinase,Disease-causing germline mutation(s) in,Assessed
99885,Isolated permanent neonatal diabetes mellitus,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) in,Assessed
99885,Isolated permanent neonatal diabetes mellitus,PDX1,pancreatic and duodenal homeobox 1,Disease-causing germline mutation(s) in,Assessed
99885,Isolated permanent neonatal diabetes mellitus,INS,insulin,Disease-causing germline mutation(s) in,Assessed
99885,Isolated permanent neonatal diabetes mellitus,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
99886,Transient neonatal diabetes mellitus,ABCC8,ATP binding cassette subfamily C member 8,Disease-causing germline mutation(s) in,Assessed
99886,Transient neonatal diabetes mellitus,KCNJ11,potassium inwardly rectifying channel subfamily J member 11,Disease-causing germline mutation(s) in,Assessed
99886,Transient neonatal diabetes mellitus,HYMAI,hydatidiform mole associated and imprinted,Disease-causing germline mutation(s) in,Assessed
99886,Transient neonatal diabetes mellitus,PLAGL1,PLAG1 like zinc finger 1,Disease-causing germline mutation(s) in,Assessed
99886,Transient neonatal diabetes mellitus,ZFP57,ZFP57 zinc finger protein,Disease-causing germline mutation(s) in,Assessed
653712,CHD4-related neurodevelopmental disorder,CHD4,chromodomain helicase DNA binding protein 4,Disease-causing germline mutation(s) in,Assessed
653722,Digenic Alport syndrome,COL4A3,collagen type IV alpha 3 chain,Disease-causing germline mutation(s) in,Assessed
653722,Digenic Alport syndrome,COL4A4,collagen type IV alpha 4 chain,Disease-causing germline mutation(s) in,Assessed
653722,Digenic Alport syndrome,COL4A5,collagen type IV alpha 5 chain,Disease-causing germline mutation(s) in,Assessed
653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28",HMGCR,3-hydroxy-3-methylglutaryl-CoA reductase,Disease-causing germline mutation(s) in,Assessed
653728,"Congenital insensitivity to pain syndrome, Marsili type",ZFHX2,zinc finger homeobox 2,Disease-causing germline mutation(s) in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,ABL1,"ABL proto-oncogene 1, non-receptor tyrosine kinase",Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,SET,SET nuclear proto-oncogene,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,NUP214,nucleoporin 214,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,ZBTB16,zinc finger and BTB domain containing 16,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,SALL2,spalt like transcription factor 2,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TRA,T-cell receptor alpha locus,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,BCR,BCR activator of RhoGEF and GTPase,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,CDKN2A,cyclin dependent kinase inhibitor 2A,Disease-causing somatic mutation(s) in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TAL1,"TAL bHLH transcription factor 1, erythroid differentiation factor",Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,FLT3,fms related receptor tyrosine kinase 3,Disease-causing somatic mutation(s) in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,MYC,"MYC proto-oncogene, bHLH transcription factor",Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,STIL,STIL centriolar assembly protein,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,MYB,"MYB proto-oncogene, transcription factor",Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TRB,T-cell receptor beta locus,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TRD,T-cell receptor delta locus,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TRG,T-cell receptor gamma locus,Candidate gene tested in,Not yet assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TCL1A,TCL1 family AKT coactivator A,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TLX1,T cell leukemia homeobox 1,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,TLX3,T cell leukemia homeobox 3,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,CNOT3,CCR4-NOT transcription complex subunit 3,Disease-causing somatic mutation(s) in,Not yet assessed
99861,Precursor T-cell acute lymphoblastic leukemia,MLLT10,MLLT10 histone lysine methyltransferase DOT1L cofactor,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,DDX3X,DEAD-box helicase 3 X-linked,Part of a fusion gene in,Assessed
99861,Precursor T-cell acute lymphoblastic leukemia,PICALM,phosphatidylinositol binding clathrin assembly protein,Part of a fusion gene in,Assessed
653709,Cone rod dystrophy-short stature syndrome,CFAP410,cilia and flagella associated protein 410,Disease-causing germline mutation(s) in,Assessed
653751,X-linked combined immunodeficiency due to SASH3 deficiency,SASH3,SAM and SH3 domain containing 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
653767,Jansen-de Vries syndrome,PPM1D,"protein phosphatase, Mg2+/Mn2+ dependent 1D",Disease-causing germline mutation(s) in,Assessed
653880,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,ECHS1,"enoyl-CoA hydratase, short chain 1",Disease-causing germline mutation(s) in,Assessed
99849,Glycogen storage disease due to muscle beta-enolase deficiency,ENO3,enolase 3,Disease-causing germline mutation(s) in,Assessed
652487,Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome,SRRM2,serine/arginine repetitive matrix 2,Disease-causing germline mutation(s) in,Assessed
99845,Genetic recurrent myoglobinuria,MT-CO1,mitochondrially encoded cytochrome c oxidase I,Disease-causing germline mutation(s) in,Assessed
99845,Genetic recurrent myoglobinuria,MT-CO3,mitochondrially encoded cytochrome c oxidase III,Disease-causing germline mutation(s) in,Assessed
99845,Genetic recurrent myoglobinuria,LPIN1,lipin 1,Disease-causing germline mutation(s) in,Assessed
99845,Genetic recurrent myoglobinuria,OBSCN,"obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF",Disease-causing germline mutation(s) in,Assessed
99843,Leukocyte adhesion deficiency type II,SLC35C1,solute carrier family 35 member C1,Disease-causing germline mutation(s) in,Assessed
99844,Leukocyte adhesion deficiency type III,FERMT3,FERM domain containing kindlin 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
99853,Ovarioleukodystrophy,EIF2B1,eukaryotic translation initiation factor 2B subunit alpha,Disease-causing germline mutation(s) in,Assessed
99853,Ovarioleukodystrophy,EIF2B2,eukaryotic translation initiation factor 2B subunit beta,Disease-causing germline mutation(s) in,Assessed
99853,Ovarioleukodystrophy,EIF2B3,eukaryotic translation initiation factor 2B subunit gamma,Disease-causing germline mutation(s) in,Assessed
99853,Ovarioleukodystrophy,EIF2B4,eukaryotic translation initiation factor 2B subunit delta,Disease-causing germline mutation(s) in,Assessed
99853,Ovarioleukodystrophy,EIF2B5,eukaryotic translation initiation factor 2B subunit epsilon,Disease-causing germline mutation(s) in,Assessed
99853,Ovarioleukodystrophy,AARS2,"alanyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) (loss of function) in,Assessed
652532,Adult-onset progressive leukoencephalopathy-early-onset deafness,KARS1,lysyl-tRNA synthetase 1,Disease-causing germline mutation(s) in,Assessed
99854,Cree leukoencephalopathy,EIF2B1,eukaryotic translation initiation factor 2B subunit alpha,Disease-causing germline mutation(s) in,Assessed
99854,Cree leukoencephalopathy,EIF2B2,eukaryotic translation initiation factor 2B subunit beta,Disease-causing germline mutation(s) in,Assessed
99854,Cree leukoencephalopathy,EIF2B3,eukaryotic translation initiation factor 2B subunit gamma,Disease-causing germline mutation(s) in,Assessed
99854,Cree leukoencephalopathy,EIF2B4,eukaryotic translation initiation factor 2B subunit delta,Disease-causing germline mutation(s) in,Assessed
99854,Cree leukoencephalopathy,EIF2B5,eukaryotic translation initiation factor 2B subunit epsilon,Disease-causing germline mutation(s) in,Assessed
99852,Ravine syndrome,SLC7A2-IT1,SLC7A2 intronic transcript 1,Disease-causing germline mutation(s) in,Assessed
652522,Periodic fever-immunodeficiency-thrombocytopenia syndrome,WDR1,WD repeat domain 1,Disease-causing germline mutation(s) in,Assessed
99832,Resistance to thyrotropin-releasing hormone syndrome,TRHR,thyrotropin releasing hormone receptor,Disease-causing germline mutation(s) (loss of function) in,Assessed
99842,Leukocyte adhesion deficiency type I,ITGB2,integrin subunit beta 2,Disease-causing germline mutation(s) in,Assessed
650097,Genetic central precocious puberty in male,MKRN3,makorin ring finger protein 3,Disease-causing germline mutation(s) in,Assessed
650097,Genetic central precocious puberty in male,DLK1,delta like non-canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
650097,Genetic central precocious puberty in male,KISS1R,KISS1 receptor,Disease-causing germline mutation(s) in,Assessed
650097,Genetic central precocious puberty in male,KISS1,KiSS-1 metastasis suppressor,Disease-causing germline mutation(s) in,Assessed
650077,Genetic central precocious puberty in female,MKRN3,makorin ring finger protein 3,Disease-causing germline mutation(s) in,Assessed
650077,Genetic central precocious puberty in female,DLK1,delta like non-canonical Notch ligand 1,Disease-causing germline mutation(s) in,Assessed
650077,Genetic central precocious puberty in female,KISS1R,KISS1 receptor,Disease-causing germline mutation(s) in,Assessed
99811,Neuronal intestinal pseudoobstruction,FLNA,filamin A,Disease-causing germline mutation(s) in,Assessed
660012,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation,NR4A2,nuclear receptor subfamily 4 group A member 2,Disease-causing germline mutation(s) in,Assessed
99812,LIG4 syndrome,XRCC4,X-ray repair cross complementing 4,Candidate gene tested in,Not yet assessed
99812,LIG4 syndrome,LIG4,DNA ligase 4,Disease-causing germline mutation(s) in,Assessed
660021,Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome,AMOTL1,angiomotin like 1,Disease-causing germline mutation(s) in,Assessed
661526,MBD4-related tumor predisposition syndrome,MBD4,"methyl-CpG binding domain 4, DNA glycosylase",Disease-causing germline mutation(s) in,Assessed
662172,Phelan-McDermid syndrome due to SHANK3 mutation,SHANK3,SH3 and multiple ankyrin repeat domains 3,Disease-causing germline mutation(s) (loss of function) in,Assessed
99819,Familial gestational hyperthyroidism,TSHR,thyroid stimulating hormone receptor,Disease-causing germline mutation(s) in,Assessed
662169,Phelan-McDermid syndrome due to 22q13.3 deletion,SHANK3,SH3 and multiple ankyrin repeat domains 3,Role in the phenotype of,Assessed
662179,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,SPOP,speckle type BTB/POZ protein,Disease-causing germline mutation(s) (gain of function) in,Assessed
662175,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,SPOP,speckle type BTB/POZ protein,Disease-causing germline mutation(s) (loss of function) in,Assessed
662189,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,HNRNPR,heterogeneous nuclear ribonucleoprotein R,Disease-causing germline mutation(s) in,Assessed
662184,Congenital muscular dystrophy-cataract-intellectual disability syndrome,INPP5K,inositol polyphosphate-5-phosphatase K,Disease-causing germline mutation(s) in,Assessed
662198,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,HNRNPH2,heterogeneous nuclear ribonucleoprotein H2,Disease-causing germline mutation(s) in,Assessed
99796,Subcortical band heterotopia,DCX,doublecortin,Disease-causing germline mutation(s) in,Assessed
99796,Subcortical band heterotopia,PAFAH1B1,platelet activating factor acetylhydrolase 1b regulatory subunit 1,Disease-causing somatic mutation(s) in,Assessed
99796,Subcortical band heterotopia,EML1,EMAP like 1,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,SUMO1,small ubiquitin like modifier 1,Candidate gene tested in,Not yet assessed
99798,Oligodontia,EDA,ectodysplasin A,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,EDARADD,EDAR associated via death domain,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,FGFR1,fibroblast growth factor receptor 1,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,IRF6,interferon regulatory factor 6,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,WNT10A,Wnt family member 10A,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,MSX1,msh homeobox 1,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,PAX9,paired box 9,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,TGFA,transforming growth factor alpha,Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,LRP6,LDL receptor related protein 6,Disease-causing germline mutation(s) (loss of function) in,Assessed
99798,Oligodontia,GREM2,"gremlin 2, DAN family BMP antagonist",Disease-causing germline mutation(s) in,Assessed
99798,Oligodontia,WNT10B,Wnt family member 10B,Disease-causing germline mutation(s) in,Assessed
99802,Hemimegalencephaly,PIK3CA,"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",Disease-causing somatic mutation(s) in,Assessed
99802,Hemimegalencephaly,AKT3,AKT serine/threonine kinase 3,Disease-causing somatic mutation(s) in,Assessed
99802,Hemimegalencephaly,MTOR,mechanistic target of rapamycin kinase,Disease-causing somatic mutation(s) in,Assessed
659873,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,LEMD2,LEM domain nuclear envelope protein 2,Disease-causing germline mutation(s) in,Assessed
99803,Haddad syndrome,PHOX2B,paired like homeobox 2B,Disease-causing germline mutation(s) in,Assessed
99803,Haddad syndrome,RET,ret proto-oncogene,Disease-causing germline mutation(s) in,Assessed
99803,Haddad syndrome,ASCL1,achaete-scute family bHLH transcription factor 1,Disease-causing germline mutation(s) in,Assessed
99806,Oculootodental syndrome,FGF3,fibroblast growth factor 3,Role in the phenotype of,Assessed
99806,Oculootodental syndrome,FADD,Fas associated via death domain,Role in the phenotype of,Assessed
659904,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,PRR12,proline rich 12,Disease-causing germline mutation(s) (loss of function) in,Assessed
99807,PEHO-like syndrome,CCDC88A,coiled-coil and HOOK domain protein 88A,Disease-causing germline mutation(s) (loss of function) in,Assessed
99810,Familial porencephaly,COL4A1,collagen type IV alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
99810,Familial porencephaly,COL4A2,collagen type IV alpha 2 chain,Disease-causing germline mutation(s) in,Assessed
99810,Familial porencephaly,COLGALT1,collagen beta(1-O)galactosyltransferase 1,Disease-causing germline mutation(s) in,Assessed
659975,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,AFG2B,AAA ATPase AFG2B,Disease-causing germline mutation(s) in,Assessed
659396,Cohen-Gibson syndrome,EED,embryonic ectoderm development,Disease-causing germline mutation(s) in,Assessed
658951,Early-onset immune dysregulation due to DOCK11 complete deficiency,DOCK11,dedicator of cytokinesis 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
659609,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,RAC3,Rac family small GTPase 3,Disease-causing germline mutation(s) (gain of function) in,Assessed
659463,Imagawa-Matsumoto syndrome,SUZ12,SUZ12 polycomb repressive complex 2 subunit,Disease-causing germline mutation(s) in,Assessed
659672,Harderoporphyria,CPOX,coproporphyrinogen oxidase,Disease-causing germline mutation(s) in,Assessed
99789,Dentin dysplasia type I,SSUH2,ssu-2 homolog,Disease-causing germline mutation(s) in,Assessed
99789,Dentin dysplasia type I,DSPP,dentin sialophosphoprotein,Disease-causing germline mutation(s) in,Assessed
99789,Dentin dysplasia type I,VPS4B,vacuolar protein sorting 4 homolog B,Disease-causing germline mutation(s) (loss of function) in,Assessed
659702,Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome,ARCN1,archain 1 coat protein complex I subunit delta,Disease-causing germline mutation(s) (loss of function) in,Assessed
99791,Dentin dysplasia type II,DSPP,dentin sialophosphoprotein,Disease-causing germline mutation(s) in,Assessed
658778,COQ7-related distal hereditary motor neuropathy,COQ7,"coenzyme Q7, hydroxylase",Disease-causing germline mutation(s) in,Assessed
658595,DNMT3A-related microcephalic dwarfism,DNMT3A,DNA methyltransferase 3 alpha,Disease-causing germline mutation(s) (gain of function) in,Assessed
658813,Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency,MTHFD1,"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",Disease-causing germline mutation(s) in,Assessed
658843,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,EBF3,EBF transcription factor 3,Disease-causing germline mutation(s) in,Assessed
99772,Cleft velum,GRHL3,grainyhead like transcription factor 3,Major susceptibility factor in,Assessed
99772,Cleft velum,UBB,ubiquitin B,Candidate gene tested in,Not yet assessed
99771,Bifid uvula,UBB,ubiquitin B,Candidate gene tested in,Not yet assessed
99771,Bifid uvula,GRHL3,grainyhead like transcription factor 3,Major susceptibility factor in,Assessed
658946,Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency,DOCK11,dedicator of cytokinesis 11,Disease-causing germline mutation(s) in,Assessed
631073,Autosomal recessive spastic paraplegia type 82,PCYT2,"phosphate cytidylyltransferase 2, ethanolamine",Disease-causing germline mutation(s) in,Assessed
631076,Autosomal recessive spastic paraplegia type 83,HPDL,4-hydroxyphenylpyruvate dioxygenase like,Disease-causing germline mutation(s) in,Assessed
631079,Autosomal recessive spastic paraplegia type 84,PI4KA,phosphatidylinositol 4-kinase alpha,Disease-causing germline mutation(s) in,Assessed
631082,Autosomal recessive spastic paraplegia type 85,RNF170,ring finger protein 170,Disease-causing germline mutation(s) in,Assessed
631068,Autosomal dominant spastic paraplegia type 80,UBAP1,ubiquitin associated protein 1,Disease-causing germline mutation(s) in,Assessed
631106,Spinocerebellar ataxia type 49,SAMD9L,sterile alpha motif domain containing 9 like,Disease-causing germline mutation(s) in,Assessed
631103,Spinocerebellar ataxia type 48,STUB1,STIP1 homology and U-box containing protein 1,Disease-causing germline mutation(s) in,Assessed
631095,Spinocerebellar ataxia type 44,GRM1,glutamate metabotropic receptor 1,Disease-causing germline mutation(s) in,Assessed
631088,Autosomal recessive spastic paraplegia type 87,TMEM63C,transmembrane protein 63C,Disease-causing germline mutation(s) in,Assessed
631085,Autosomal recessive spastic paraplegia type 86,ABHD16A,"abhydrolase domain containing 16A, phospholipase",Disease-causing germline mutation(s) in,Assessed
631248,Mitchell Syndrome,ACOX1,acyl-CoA oxidase 1,Disease-causing germline mutation(s) in,Assessed
634475,Mosaic NF2-related schwannomatosis,NF2,"NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",Disease-causing germline mutation(s) in,Assessed
636970,Autosomal recessive myosin storage myopathy,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
636965,Autosomal dominant myosin storage myopathy,MYH7,myosin heavy chain 7,Disease-causing germline mutation(s) in,Assessed
637013,SMARCA2-related blepharophimosis-intellectual disability syndrome,SMARCA2,SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2,Disease-causing germline mutation(s) in,Assessed
636941,Vascular Ehlers-Danlos-polymicrogyria syndrome,COL3A1,collagen type III alpha 1 chain,Disease-causing germline mutation(s) in,Assessed
641375,B-lymphoblastic leukemia/lymphoma with t(17;19),HLF,"HLF transcription factor, PAR bZIP family member",Part of a fusion gene in,Assessed
641375,B-lymphoblastic leukemia/lymphoma with t(17;19),TCF3,transcription factor 3,Part of a fusion gene in,Assessed
641368,Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency,ZNF341,zinc finger protein 341,Disease-causing germline mutation(s) in,Assessed
641372,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2),PAX5,paired box 5,Part of a fusion gene in,Assessed
641372,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2),AUTS2,activator of transcription and developmental regulator AUTS2,Part of a fusion gene in,Assessed
641353,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,HPDL,4-hydroxyphenylpyruvate dioxygenase like,Disease-causing germline mutation(s) in,Assessed
641361,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,EXOSC5,exosome component 5,Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,PRORP,protein only RNase P catalytic subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
642976,Perrault syndrome type 2,CLPP,caseinolytic mitochondrial matrix peptidase proteolytic subunit,Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,ERAL1,Era like 12S mitochondrial rRNA chaperone 1,Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,HARS2,"histidyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,HSD17B4,hydroxysteroid 17-beta dehydrogenase 4,Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,LARS2,"leucyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,TWNK,twinkle mtDNA helicase,Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,GGPS1,geranylgeranyl diphosphate synthase 1,Disease-causing germline mutation(s) in,Assessed
642976,Perrault syndrome type 2,RMND1,required for meiotic nuclear division 1 homolog,Disease-causing germline mutation(s) in,Assessed
642965,Autosomal recessive ataxia due to PEX2 deficiency,PEX2,peroxisomal biogenesis factor 2,Disease-causing germline mutation(s) in,Assessed
642954,Autosomal recessive ataxia due to PEX16 deficiency,PEX16,peroxisomal biogenesis factor 16,Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,PRORP,protein only RNase P catalytic subunit,Disease-causing germline mutation(s) (loss of function) in,Assessed
642945,Perrault syndrome type 1,CLPP,caseinolytic mitochondrial matrix peptidase proteolytic subunit,Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,ERAL1,Era like 12S mitochondrial rRNA chaperone 1,Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,HARS2,"histidyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,HSD17B4,hydroxysteroid 17-beta dehydrogenase 4,Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,LARS2,"leucyl-tRNA synthetase 2, mitochondrial",Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,TWNK,twinkle mtDNA helicase,Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,GGPS1,geranylgeranyl diphosphate synthase 1,Disease-causing germline mutation(s) in,Assessed
642945,Perrault syndrome type 1,RMND1,required for meiotic nuclear division 1 homolog,Disease-causing germline mutation(s) in,Assessed
642763,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,H1-4,"H1.4 linker histone, cluster member",Disease-causing germline mutation(s) in,Assessed
642747,PUM1-related cerebellar ataxia,PUM1,pumilio RNA binding family member 1,Disease-causing germline mutation(s) in,Assessed
642691,Fragile X-associated primary ovarian insufficiency,FMR1,fragile X messenger ribonucleoprotein 1,Disease-causing germline mutation(s) in,Assessed
642675,CHD8 overgrowth syndrome,CHD8,chromodomain helicase DNA binding protein 8,Disease-causing germline mutation(s) (loss of function) in,Assessed
642671,Familial hyperaldosteronism type IV,CACNA1H,calcium voltage-gated channel subunit alpha1 H,Disease-causing germline mutation(s) (gain of function) in,Assessed
642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",B3GALT6,"beta-1,3-galactosyltransferase 6",Disease-causing germline mutation(s) in,Assessed
642085,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,EXOC6B,exocyst complex component 6B,Disease-causing germline mutation(s) in,Assessed
632603,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,AFF3,ALF transcription elongation factor 3,Disease-causing germline mutation(s) in,Assessed
633021,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome,SLC12A2,solute carrier family 12 member 2,Disease-causing germline mutation(s) in,Assessed
633024,SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,SLC12A2,solute carrier family 12 member 2,Disease-causing germline mutation(s) in,Assessed
633004,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,KDM3B,lysine demethylase 3B,Disease-causing germline mutation(s) in,Assessed
633035,Intellectual disability-early-onset cataract-microcephaly syndrome,COPB1,coat protein complex I subunit beta 1,Disease-causing germline mutation(s) in,Assessed
633028,CPE-related Prader-Willi-like syndrome,CPE,carboxypeptidase E,Disease-causing germline mutation(s) in,Assessed
615938,Spastic paraparesis-cataracts-speech delay syndrome,FAR1,fatty acyl-CoA reductase 1,Disease-causing germline mutation(s) in,Assessed
615986,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,ATAD3A,ATPase family AAA domain containing 3A,Role in the phenotype of,Assessed
615983,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,ATAD3A,ATPase family AAA domain containing 3A,Disease-causing germline mutation(s) in,Assessed
621758,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,NHLRC2,NHL repeat containing 2,Disease-causing germline mutation(s) in,Assessed
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,MT-TF,mitochondrially encoded tRNA-Phe (UUU/C),Disease-causing germline mutation(s) in,Assessed
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,MT-TI,mitochondrially encoded tRNA-Ile (AUU/C),Disease-causing germline mutation(s) in,Assessed
620368,EGF-related primary hypomagnesemia with intellectual disability,EGF,epidermal growth factor,Disease-causing germline mutation(s) in,Assessed
620363,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,CNNM2,cyclin and CBS domain divalent metal cation transport mediator 2,Disease-causing germline mutation(s) in,Assessed
620220,Bartter syndrome type 2,KCNJ1,potassium inwardly rectifying channel subfamily J member 1,Disease-causing germline mutation(s) in,Assessed
620158,Non-syndromic non-specific multisutural craniosynostosis,FUZ,fuzzy planar cell polarity protein,Disease-causing germline mutation(s) in,Assessed
623695,MIR140-related spondyloepiphyseal dysplasia,MIR140,microRNA 140,Disease-causing germline mutation(s) in,Assessed
622925,X-linked severe syndromic thoracic aortic aneurysm and dissection,BGN,biglycan,Disease-causing germline mutation(s) (loss of function) in,Assessed
622934,SBDS-related severe neonatal spondylometaphyseal dysplasia,SBDS,SBDS ribosome maturation factor,Disease-causing germline mutation(s) in,Assessed
617919,F12-associated cold autoinflammatory syndrome,F12,coagulation factor XII,Disease-causing germline mutation(s) in,Assessed
619941,Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency,MRTFA,myocardin related transcription factor A,Disease-causing germline mutation(s) in,Assessed
619367,SAMD9L-associated autoinflammatory syndrome,SAMD9L,sterile alpha motif domain containing 9 like,Disease-causing germline mutation(s) in,Assessed
619953,Familial hyperinflammatory lymphoproliferative immunodeficiency,NCKAP1L,NCK associated protein 1 like,Disease-causing germline mutation(s) in,Assessed
619948,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,SOCS1,suppressor of cytokine signaling 1,Disease-causing germline mutation(s) (loss of function) in,Assessed
619979,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,NFE2L2,NFE2 like bZIP transcription factor 2,Disease-causing germline mutation(s) in,Assessed
619972,CADINS disease,CARD11,caspase recruitment domain family member 11,Disease-causing germline mutation(s) (loss of function) in,Assessed
619363,NOCARH syndrome,CDC42,cell division cycle 42,Disease-causing germline mutation(s) in,Assessed
619233,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,BCL11A,BCL11 transcription factor A,Disease-causing germline mutation(s) in,Assessed
