Explore genetic diseases, one DNA change at a time
Explore 1,299 genetic diseases by body system: the genes involved, 334,165 linked DNA variants, which uncertain variants look disease-causing, and which… Built from public CATVariant analyses of 1,024 human proteins.
Heart & circulation
- Familial thoracic aortic aneurysm and aortic dissection genes and variants: ACTA2, COL3A1, COL5A1, FBN1 and 15 more; 634 disease-causing, 7,355 uncertain
- Hypercholesterolemia, familial, 1 genes and variants: APOB, GHR, LDLR and PCSK9; 568 disease-causing, 653 uncertain
- Long QT syndrome genes and variants: CACNA1C, CALM1, CALM2, CALM3 and 6 more; 365 disease-causing, 3,230 uncertain
- Hypertrophic cardiomyopathy genes and variants: ACAD9, ACTC1, ARAF, BAG3 and 37 more; 361 disease-causing, 6,511 uncertain
- Familial hypercholesterolemia genes and variants: ANGPTL3, APOB, APOE, HMGCR and 2 more; 302 disease-causing, 948 uncertain
- Dilated cardiomyopathy genes and variants: ABCC9, ACTC1, BAG3, CSRP3 and 24 more; 106 disease-causing, 2,106 uncertain
- Cardiac arrhythmia genes and variants: ASS1, CACNA1C, DSP, HCN4 and 13 more; 85 disease-causing, 1,102 uncertain
- Catecholaminergic polymorphic ventricular tachycardia genes and variants: CALM1, CASQ2, RYR2 and TRDN; 78 disease-causing, 2,071 uncertain
- Cardiofaciocutaneous syndrome genes and variants: BRAF, KRAS, MAP2K1, MAP2K2 and 1 more; 49 disease-causing, 105 uncertain
- Primary dilated cardiomyopathy genes and variants: ACTC1, ACTN2, DES, LMNA and 11 more; 46 disease-causing, 268 uncertain
- Pulmonary hypertension, primary, 1 genes and variants: ACVRL1 and BMPR2; 41 disease-causing, 86 uncertain
- Cardio-facio-cutaneous syndrome genes and variants: BRAF, KRAS, MAP2K1 and MAP2K2; 38 disease-causing, 2 uncertain
- Brugada syndrome genes and variants: ANK2, CACNA1C, CACNB2, HCN4 and 2 more; 37 disease-causing, 1,931 uncertain
- Short QT syndrome type 3 genes and variants: KCNH2, KCNJ2 and KCNQ1; 36 disease-causing, 249 uncertain
- Atrial septal defect genes and variants: ABCC8, ACTC1, GATA4, GATA6 and 5 more; 35 disease-causing, 523 uncertain
- Deafness-lymphedema-leukemia syndrome genes and variants: GATA2; 35 disease-causing, 596 uncertain
- Pulmonary arterial hypertension genes and variants: ACVRL1, BMPR2, EDNRB, EIF2AK4 and 2 more; 32 disease-causing, 33 uncertain
- Aortic aneurysm, familial thoracic 7 genes and variants: ACTA2, LOX, MYH11, MYLK and 1 more; 30 disease-causing, 2,072 uncertain
- Homozygous familial hypercholesterolemia genes and variants: APOB, LDLR and PCSK9; 29 disease-causing, 2 uncertain
- Pulmonary hypertension, neonatal, susceptibility to genes and variants: CPS1; 29 disease-causing, 27 uncertain
- Autoimmune lymphoproliferative syndrome genes and variants: CASP8, FAS, KRAS and NRAS; 28 disease-causing, 279 uncertain
- Cardiomyopathy, familial restrictive, 3 genes and variants: TNNC1, TNNI3 and TNNT2; 25 disease-causing, 156 uncertain
- Atrial fibrillation, familial, 10 genes and variants: ABCC9, KCNJ2, KCNQ1, SCN5A and 2 more; 17 disease-causing, 306 uncertain
- Arrhythmogenic right ventricular dysplasia genes and variants: DSC2, DSP, JUP, LMNA and 3 more; 16 disease-causing, 2,925 uncertain
- Familial aortopathy genes and variants: ACTA2, COL3A1, FBN1, SLC2A10 and 1 more; 15 disease-causing, 6 uncertain
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency genes and variants: CTLA4 and KCNH2; 14 disease-causing, 100 uncertain
- Congenital heart defects and skeletal malformations syndrome genes and variants: ABL1; 14 disease-causing, 16 uncertain
- Heterotopia, periventricular, X-linked dominant genes and variants: FLNA; 14 disease-causing, 853 uncertain
- Primary familial hypertrophic cardiomyopathy genes and variants: ACTN2, GLA, JPH2, KCNH2 and 4 more; 14 disease-causing, 538 uncertain
- Isolated thoracic aortic aneurysm genes and variants: ACTA2, FBN1 and MYH11; 13 disease-causing, 30 uncertain
- Primary pulmonary hypertension genes and variants: BMPR2; 13 disease-causing, 81 uncertain
- Left ventricular noncompaction genes and variants: ACTC1, LDB3, MYBPC3, MYH7 and 2 more; 11 disease-causing, 162 uncertain
- Pigmented paravenous retinochoroidal atrophy genes and variants: CRB1; 11 disease-causing, 56 uncertain
- Vascular malformation genes and variants: BRAF, GNA11, KRAS, MAP2K1 and 3 more; 11 disease-causing, 3 uncertain
- Aortic valve disease 2 genes and variants: NOTCH1 and TBX5; 10 disease-causing, 304 uncertain
- Marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections genes and variants: FBN1 and LOX; 10 disease-causing, 1 uncertain
- Primary familial dilated cardiomyopathy genes and variants: DES, LMNA, MYH6, MYH7 and 3 more; 9 disease-causing, 34 uncertain
- Familial cardiomyopathy genes and variants: LMNA, MYH7 and TPM1; 8 disease-causing, 1 uncertain
- Familial hemophagocytic lymphohistiocytosis genes and variants: CDC42, COL3A1, SLC2A10 and UNC13D; 8 disease-causing, 449 uncertain
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome genes and variants: ACADVL and GATA6; 8 disease-causing, 8 uncertain
- Atrioventricular septal defect 4 genes and variants: GATA4 and GATA6; 7 disease-causing, 599 uncertain
- Dilated cardiomyopathy 1FF genes and variants: TNNC1 and TNNI3; 7 disease-causing, 4 uncertain
- Restrictive cardiomyopathy genes and variants: FLNC, MYH7, TNNC1 and TNNI3; 7 disease-causing, 2 uncertain
- X-linked lymphoproliferative disease due to SH2D1A deficiency genes and variants: SH2D1A; 7 disease-causing, 24 uncertain
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma genes and variants: DSP; 6 disease-causing, 1,833 uncertain
- Avascular necrosis of femoral head, primary, 1 genes and variants: COL2A1; 6 disease-causing, 6 uncertain
- Deep venous thrombosis genes and variants: FGA and PROC; 6 disease-causing, 7 uncertain
- Ehlers-Danlos syndrome, cardiac valvular type genes and variants: COL1A2; 6 disease-causing, 4 uncertain
- Heart-hand syndrome, Slovenian type genes and variants: LMNA; 6 disease-causing, 31 uncertain
- Lymphatic malformation genes and variants: PIEZO1; 6 disease-causing, 88 uncertain
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome genes and variants: CDC42; 6 disease-causing, 1 uncertain
- Periventricular nodular heterotopia genes and variants: FLNA and NEDD4L; 6 disease-causing, 49 uncertain
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome genes and variants: COL3A1; 6 disease-causing, 69 uncertain
- Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia genes and variants: ACVRL1; 6 disease-causing, 0 uncertain
- Sick sinus syndrome 2, autosomal dominant genes and variants: HCN4, SCN5A and MYH6; 6 disease-causing, 196 uncertain
- Acute lymphoid leukemia genes and variants: PAX5, FLT3 and NBN; 5 disease-causing, 41 uncertain
- Aicardi-Goutieres syndrome genes and variants: TREX1; 5 disease-causing, 266 uncertain
- Arrhythmogenic right ventricular cardiomyopathy genes and variants: DES, DSC2, DSP, PKP2 and 2 more; 5 disease-causing, 163 uncertain
- Dilated cardiomyopathy 1HH genes and variants: BAG3; 5 disease-causing, 538 uncertain
- Dilated cardiomyopathy 1NN genes and variants: RAF1; 5 disease-causing, 12 uncertain
- Myocardial infarction genes and variants: ACE, AGTR1, APOA5, APOB and 19 more; 5 disease-causing, 4 uncertain
- Progressive familial heart block genes and variants: DSP and SCN5A; 5 disease-causing, 14 uncertain
- Supravalvar aortic stenosis genes and variants: ELN; 5 disease-causing, 340 uncertain
- Cardiac valvular dysplasia, X-linked genes and variants: FLNA; 4 disease-causing, 22 uncertain
- Congenital heart defects, multiple types, 5 genes and variants: GATA5; 4 disease-causing, 18 uncertain
- Dilated cardiomyopathy 1DD genes and variants: RBM20; 4 disease-causing, 765 uncertain
- Jervell and Lange-Nielsen syndrome genes and variants: KCNQ1; 4 disease-causing, 12 uncertain
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability genes and variants: KIF11; 4 disease-causing, 26 uncertain
- Thoracic aortic aneurysm or dissection genes and variants: ACTA2, SLC2A10 and TGFB2; 4 disease-causing, 5 uncertain
- Timothy syndrome genes and variants: CACNA1C; 4 disease-causing, 5 uncertain
- Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome genes and variants: RYR2; 4 disease-causing, 30 uncertain
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome genes and variants: CDH2; 3 disease-causing, 2 uncertain
- Dilated cardiomyopathy 1GG genes and variants: SDHA; 3 disease-causing, 130 uncertain
- Familial isolated dilated cardiomyopathy genes and variants: ABCC9, ACTC1, BAG3, CSRP3 and 15 more; 3 disease-causing, 2 uncertain
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome genes and variants: GBA1; 3 disease-causing, 13 uncertain
- Hypercholesterolemia, autosomal dominant, type B genes and variants: APOB; 3 disease-causing, 1,232 uncertain
- Sudden infant death syndrome genes and variants: SCN5A and CALM2; 3 disease-causing, 14 uncertain
- Testicular anomalies with or without congenital heart disease genes and variants: GATA4; 3 disease-causing, 6 uncertain
- Ventricular fibrillation, paroxysmal familial, type 1 genes and variants: SCN5A; 3 disease-causing, 15 uncertain
- X-linked lymphoproliferative disease due to XIAP deficiency genes and variants: XIAP; 3 disease-causing, 105 uncertain
- Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction genes and variants: ACTN2; 2 disease-causing, 0 uncertain
- Congenital aneurysm of ascending aorta genes and variants: LOX; 2 disease-causing, 4 uncertain
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome genes and variants: LMNA; 2 disease-causing, 44 uncertain
- Familial isolated arrhythmogenic right ventricular dysplasia genes and variants: DSC2, DSP, PKP2 and TMEM43; 2 disease-causing, 326 uncertain
- Lymphangiomyomatosis genes and variants: TSC2 and TSC1; 2 disease-causing, 176 uncertain
- Microvascular complications of diabetes, susceptibility to, 3 genes and variants: ACE and HFE; 2 disease-causing, 187 uncertain
- Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) genes and variants: OPA1; 2 disease-causing, 2 uncertain
- Pulmonary arterial hypertension associated with congenital heart disease genes and variants: BMPR2; 2 disease-causing, 3 uncertain
- Sinoatrial node dysfunction and deafness genes and variants: CACNA1D; 2 disease-causing, 27 uncertain
- Ventricular septal defect genes and variants: GATA4 and NKX2-5; 2 disease-causing, 22 uncertain
- Arrhythmogenic right ventricular dysplasia, familial, 14 genes and variants: CDH2; 1 disease-causing, 5 uncertain
- Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency genes and variants: DMD; 1 disease-causing, 74 uncertain
- Capillary malformation-arteriovenous malformation 1 genes and variants: RASA1; 1 disease-causing, 27 uncertain
- Capillary malformation-arteriovenous malformation syndrome genes and variants: RASA1; 1 disease-causing, 449 uncertain
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis genes and variants: DSP; 1 disease-causing, 54 uncertain
- Dilated cardiomyopathy 1AA genes and variants: ACTN2; 1 disease-causing, 559 uncertain
- Dilated cardiomyopathy 1EE genes and variants: MYH6; 1 disease-causing, 105 uncertain
- Ebv-positive nodal t- and nk-cell lymphoma genes and variants: DNMT3A, TET2 and FBXW7; 1 disease-causing, 0 uncertain
- Familial atrioventricular septal defect genes and variants: GJA1 and TBX5; 1 disease-causing, 1 uncertain
- Hypoplastic left heart syndrome genes and variants: GJA1, MYH6 and NKX2-5; 1 disease-causing, 13 uncertain
- Leukemia, acute lymphoblastic, susceptibility to, 3 genes and variants: PAX5; 1 disease-causing, 11 uncertain
- Myocarditis genes and variants: MYH7; 1 disease-causing, 5 uncertain
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy genes and variants: MYL2; 1 disease-causing, 10 uncertain
- Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities genes and variants: SHMT2; 1 disease-causing, 7 uncertain
- Uruguay Faciocardiomusculoskeletal syndrome genes and variants: FHL1; 1 disease-causing, 6 uncertain
- X-linked mixed hearing loss with perilymphatic gusher genes and variants: GJB2 and GJB6; 1 disease-causing, 2 uncertain
Cancer
- Li-Fraumeni syndrome genes and variants: CHEK2 and TP53; 188 disease-causing, 865 uncertain
- Multiple endocrine neoplasia genes and variants: CDKN1B, MEN1 and RET; 164 disease-causing, 2,961 uncertain
- PTEN hamartoma tumor syndrome genes and variants: PTEN; 147 disease-causing, 550 uncertain
- Lynch syndrome genes and variants: EPCAM, MLH1, MLH3, MSH2 and 3 more; 109 disease-causing, 1,295 uncertain
- Gastrointestinal stromal tumor genes and variants: ABL1, BCR, CSF1R, FLT3 and 7 more; 93 disease-causing, 3,420 uncertain
- Hereditary nonpolyposis colorectal neoplasms genes and variants: MLH1, MSH2, MSH6 and PMS2; 89 disease-causing, 6,248 uncertain
- Pheochromocytoma/paraganglioma syndrome 5 genes and variants: SDHA, SDHAF2, SDHB, SDHC and 1 more; 82 disease-causing, 1,802 uncertain
- Cowden syndrome genes and variants: AKT1, PIK3CA, PTEN and SDHD; 78 disease-causing, 566 uncertain
- Ovarian cancer genes and variants: ALK, APC, AR, ATM and 49 more; 45 disease-causing, 247 uncertain
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome genes and variants: RUNX1; 39 disease-causing, 593 uncertain
- Deafness-lymphedema-leukemia syndrome genes and variants: GATA2; 35 disease-causing, 596 uncertain
- Acute myeloid leukemia genes and variants: ASXL1, AXL, BCL2, CEBPA and 38 more; 34 disease-causing, 620 uncertain
- Hereditary leiomyomatosis and renal cell cancer genes and variants: FH; 34 disease-causing, 68 uncertain
- Retinoblastoma genes and variants: RB1; 33 disease-causing, 1,126 uncertain
- Familial adenomatous polyposis genes and variants: APC, MSH3, MUTYH, NTHL1 and 1 more; 32 disease-causing, 3,356 uncertain
- DICER1-related tumor predisposition genes and variants: DICER1; 28 disease-causing, 1,794 uncertain
- Juvenile polyposis syndrome genes and variants: BMPR1A and SMAD4; 26 disease-causing, 1,357 uncertain
- Adrenocortical carcinoma, hereditary genes and variants: TP53; 23 disease-causing, 84 uncertain
- Familial cancer of breast genes and variants: ATM, BARD1, BRIP1, CHEK2 and 9 more; 23 disease-causing, 6,887 uncertain
- Colorectal cancer genes and variants: ABL1, APC, ARID1A, ATM and 33 more; 20 disease-causing, 2,002 uncertain
- Gastric cancer genes and variants: APC, ATM, BARD1, BRIP1 and 17 more; 19 disease-causing, 139 uncertain
- Malignant tumor of urinary bladder genes and variants: FGFR3, HRAS, KRAS, CTNNB1 and 5 more; 19 disease-causing, 99 uncertain
- Colorectal cancer, hereditary nonpolyposis, type 6 genes and variants: MLH1, TGFBR2 and MLH3; 17 disease-causing, 209 uncertain
- Familial melanoma genes and variants: CDK4, CDKN2A, POT1 and TERT; 17 disease-causing, 651 uncertain
- Non-small cell lung carcinoma genes and variants: ALK, BRAF, CD274, CDKN2A and 31 more; 16 disease-causing, 1 uncertain
- Breast-ovarian cancer, familial, susceptibility to, 1 genes and variants: ATP7B, BRCA1, BRCA2, BRIP1 and 6 more; 14 disease-causing, 884 uncertain
- Familial medullary thyroid carcinoma genes and variants: NTRK1 and RET; 13 disease-causing, 119 uncertain
- Hereditary nonpolyposis colon cancer genes and variants: CHEK2, MLH1, MSH2, MSH6 and 2 more; 13 disease-causing, 46 uncertain
- Paragangliomas with sensorineural hearing loss genes and variants: SDHD; 13 disease-causing, 160 uncertain
- Glioma susceptibility 1 genes and variants: BRCA2, PTEN, TP53 and ERBB2; 12 disease-causing, 65 uncertain
- Melanoma, cutaneous malignant, susceptibility to, 8 genes and variants: CDK4, CDKN2A, MITF, STK11 and 2 more; 12 disease-causing, 374 uncertain
- CDH1-related diffuse gastric and lobular breast cancer syndrome genes and variants: CDH1; 11 disease-causing, 53 uncertain
- Hereditary breast ovarian cancer syndrome genes and variants: ATM, BARD1, BRCA1, BRCA2 and 17 more; 11 disease-causing, 228 uncertain
- Melanoma-pancreatic cancer syndrome genes and variants: CDKN2A; 11 disease-causing, 22 uncertain
- Carcinoma of colon genes and variants: FGFR3, PIK3CA, BRAF, CTNNB1 and 3 more; 10 disease-causing, 6 uncertain
- Inherited phaeochromocytoma and paraganglioma excluding NF1 genes and variants: FH, SDHA, SDHB, SDHC and 1 more; 10 disease-causing, 6 uncertain
- Multiple myeloma genes and variants: TP53, TUBA1A, AURKA, CRBN and 7 more; 10 disease-causing, 0 uncertain
- Ovarian neoplasm genes and variants: BRCA1, BRCA2, PARP2, PIK3CA and 7 more; 10 disease-causing, 9 uncertain
- Rhabdoid tumor predisposition syndrome 2 genes and variants: SMARCA4 and SMARCB1; 10 disease-causing, 1,707 uncertain
- Hereditary pheochromocytoma and paraganglioma genes and variants: MAX, SDHAF2, SDHC, TMEM127 and 3 more; 9 disease-causing, 852 uncertain
- Juvenile myelomonocytic leukemia genes and variants: CBL, KRAS, NF1, NRAS and 1 more; 9 disease-causing, 130 uncertain
- Lung adenocarcinoma genes and variants: ARID1A, BRAF, CDKN2A, EGFR and 12 more; 9 disease-causing, 8 uncertain
- Lung cancer genes and variants: ALK, BRAF, CD274, EGFR and 6 more; 9 disease-causing, 40 uncertain
- Osteoporosis with pseudoglioma genes and variants: LRP5; 9 disease-causing, 61 uncertain
- Tumor predisposition syndrome 3 genes and variants: POT1; 8 disease-causing, 809 uncertain
- Familial meningioma genes and variants: NF2, PTEN, SMARCE1 and SUFU; 7 disease-causing, 461 uncertain
- Mismatch repair cancer syndrome genes and variants: MLH1, MSH2, MSH6 and PMS2; 7 disease-causing, 179 uncertain
- Congenital hypothalamic hamartoma syndrome genes and variants: SMO; 6 disease-causing, 17 uncertain
- Hepatocellular carcinoma genes and variants: APC, ARID1A, ARID2, BRAF and 15 more; 6 disease-causing, 54 uncertain
- Wilms tumor genes and variants: BRCA2 and WT1; 6 disease-causing, 4 uncertain
- Acute lymphoid leukemia genes and variants: PAX5, FLT3 and NBN; 5 disease-causing, 41 uncertain
- Bone osteosarcoma genes and variants: CHEK2, RB1 and TP53; 5 disease-causing, 68 uncertain
- Breast and/or ovarian cancer genes and variants: CHEK2, RAD51D, TP53, BARD1 and 8 more; 5 disease-causing, 174 uncertain
- Familial ovarian cancer genes and variants: BRIP1, RAD51C and RAD51D; 5 disease-causing, 82 uncertain
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib genes and variants: ABL1; 5 disease-causing, 0 uncertain
- Melanoma and neural system tumor syndrome genes and variants: CDKN2A; 5 disease-causing, 33 uncertain
- Muir-Torré syndrome genes and variants: MLH1 and MSH2; 5 disease-causing, 84 uncertain
- Nonpapillary renal cell carcinoma genes and variants: FLCN, HNF1B and VHL; 5 disease-causing, 125 uncertain
- Prostate cancer genes and variants: AR, BRCA2, CHEK2, CYP17A1 and 11 more; 5 disease-causing, 62 uncertain
- Thyroid adenoma, hyperfunctioning, somatic genes and variants: TSHR; 5 disease-causing, 0 uncertain
- Endometrial carcinoma genes and variants: CDH1, MLH1, MLH3, MSH2 and 5 more; 4 disease-causing, 509 uncertain
- Familial pancreatic carcinoma genes and variants: ATM, BRCA1, BRCA2, KRAS and 4 more; 4 disease-causing, 25 uncertain
- Hereditary diffuse gastric adenocarcinoma genes and variants: CDH1 and CTNNA1; 4 disease-causing, 1,541 uncertain
- Lip and oral cavity carcinoma genes and variants: HRAS, ABL1, BRAF and PIK3CA; 4 disease-causing, 0 uncertain
- Medulloblastoma genes and variants: BRCA2, CTNNB1, KMT2C, KMT2D and 4 more; 4 disease-causing, 512 uncertain
- Myelodysplastic syndrome genes and variants: ASXL1, BCR, CRBN, CSF3R and 14 more; 4 disease-causing, 18 uncertain
- Parathyroid carcinoma genes and variants: CDC73; 4 disease-causing, 427 uncertain
- Renal cell carcinoma genes and variants: BRAF, CSF1R, CTLA4, EPAS1 and 14 more; 4 disease-causing, 1,741 uncertain
- Thyroid cancer, nonmedullary, 2 genes and variants: HRAS, NKX2-1 and PTEN; 4 disease-causing, 6 uncertain
- Acute megakaryoblastic leukemia in down syndrome genes and variants: GATA1, JAK1, NRAS and SRSF2; 3 disease-causing, 0 uncertain
- Aldosterone-producing adenoma with seizures and neurological abnormalities genes and variants: CACNA1D; 3 disease-causing, 44 uncertain
- Carcinoma of pancreas genes and variants: STK11, TP53 and SMAD4; 3 disease-causing, 15 uncertain
- CHEK2-related cancer predisposition genes and variants: CHEK2; 3 disease-causing, 103 uncertain
- Chronic myeloid leukemia genes and variants: ABL1; 3 disease-causing, 6 uncertain
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 genes and variants: RUNX1; 3 disease-causing, 37 uncertain
- Malignant tumor of esophagus genes and variants: TGFBR2 and WWOX; 3 disease-causing, 37 uncertain
- Melanoma genes and variants: ARID2, BRAF, CDKN2A, CTLA4 and 12 more; 3 disease-causing, 1 uncertain
- Desmoid disease, hereditary genes and variants: CTNNB1 and APC; 2 disease-causing, 9 uncertain
- Diffuse midline glioma, H3 K27-altered genes and variants: MUTYH; 2 disease-causing, 10 uncertain
- Familial isolated pituitary adenoma genes and variants: AIP; 2 disease-causing, 9 uncertain
- Familial prostate cancer genes and variants: BRCA2, CHEK2 and PTEN; 2 disease-causing, 50 uncertain
- Generalized juvenile polyposis/juvenile polyposis coli genes and variants: BMPR1A and SMAD4; 2 disease-causing, 12 uncertain
- Hereditary retinoblastoma genes and variants: RB1; 2 disease-causing, 1 uncertain
- Inherited polyposis and early onset colorectal cancer - germline testing genes and variants: MUTYH and NTHL1; 2 disease-causing, 13 uncertain
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome genes and variants: SMAD4; 2 disease-causing, 47 uncertain
- Lung carcinoma genes and variants: BRAF, CHEK2, EGFR and TERT; 2 disease-causing, 2 uncertain
- Lynch-like syndrome genes and variants: MLH1 and MSH6; 2 disease-causing, 4 uncertain
- Malignant tumor of testis genes and variants: STK11, BCL10 and KIT; 2 disease-causing, 17 uncertain
- Neoplasm of stomach genes and variants: FGFR2, PIK3CA and MUTYH; 2 disease-causing, 8 uncertain
- Papillary renal cell carcinoma genes and variants: MET; 2 disease-causing, 69 uncertain
- Pituitary adenoma 3, multiple types genes and variants: GNAS; 2 disease-causing, 6 uncertain
- Polyposis syndrome, hereditary mixed, 2 genes and variants: BMPR1A; 2 disease-causing, 106 uncertain
- RAD51C-related cancer predisposition genes and variants: RAD51C; 2 disease-causing, 0 uncertain
- Squamous cell carcinoma of the head and neck genes and variants: TP53; 2 disease-causing, 7 uncertain
- ATM-related cancer predisposition genes and variants: ATM; 1 disease-causing, 8 uncertain
- Basal cell carcinoma genes and variants: BACH2, CTLA4, IRF4, KRT5 and 6 more; 1 disease-causing, 177 uncertain
- Cervical cancer genes and variants: FGFR3, PDCD1, TOP1, TUBA1A and 2 more; 1 disease-causing, 1 uncertain
- Classic or attenuated familial adenomatous polyposis genes and variants: APC and MUTYH; 1 disease-causing, 281 uncertain
- Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype genes and variants: TP53; 1 disease-causing, 6 uncertain
- Dysembryoplastic neuroepithelial tumor genes and variants: MUTYH; 1 disease-causing, 0 uncertain
- Ebv-positive nodal t- and nk-cell lymphoma genes and variants: DNMT3A, TET2 and FBXW7; 1 disease-causing, 0 uncertain
- Familial colorectal cancer genes and variants: ATM, MUTYH, POLE and POLD1; 1 disease-causing, 25 uncertain
- Germ cell tumor of testis genes and variants: FGFR3, KIT and STK11; 1 disease-causing, 29 uncertain
- Hepatoblastoma genes and variants: CTNNB1; 1 disease-causing, 2 uncertain
- Hereditary papillary renal cell carcinoma genes and variants: MET; 1 disease-causing, 5 uncertain
- Inherited MMR deficiency (Lynch syndrome) genes and variants: MSH6; 1 disease-causing, 7 uncertain
- Leukemia, acute lymphoblastic, susceptibility to, 3 genes and variants: PAX5; 1 disease-causing, 11 uncertain
- Neuroblastoma genes and variants: ALK and BARD1; 1 disease-causing, 2,086 uncertain
- Predisposition to cancer genes and variants: CHEK2; 1 disease-causing, 15 uncertain
- Respiratory papillomatosis, juvenile recurrent, congenital genes and variants: NLRP1; 1 disease-causing, 4 uncertain
Blood
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency genes and variants: G6PD; 182 disease-causing, 108 uncertain
- Glanzmann thrombasthenia genes and variants: ITGA2B and ITGB3; 135 disease-causing, 324 uncertain
- Chuvash polycythemia genes and variants: VHL; 116 disease-causing, 455 uncertain
- Thrombophilia, X-linked, due to factor 9 defect genes and variants: F9; 62 disease-causing, 31 uncertain
- Hereditary antithrombin deficiency genes and variants: SERPINC1; 61 disease-causing, 99 uncertain
- Erythrocytosis, familial, 6 genes and variants: EPAS1, HBA1 and HBB; 52 disease-causing, 46 uncertain
- Thrombophilia due to protein C deficiency, autosomal dominant genes and variants: PROC; 50 disease-causing, 125 uncertain
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome genes and variants: RUNX1; 39 disease-causing, 593 uncertain
- Fanconi anemia complementation group A genes and variants: BRCA1, FANCA and FANCC; 38 disease-causing, 272 uncertain
- Malaria genes and variants: G6PD, HBB, TLR7 and TLR9; 28 disease-causing, 12 uncertain
- Thrombophilia due to protein S deficiency, autosomal recessive genes and variants: PROS1; 26 disease-causing, 163 uncertain
- Hereditary spherocytosis genes and variants: SLC4A1, SPTA1 and SPTB; 22 disease-causing, 242 uncertain
- Beta thalassemia genes and variants: HBB; 21 disease-causing, 10 uncertain
- Fanconi anemia genes and variants: BRCA2, BRIP1, ERCC4, FANCA and 7 more; 21 disease-causing, 1,731 uncertain
- Congenital amegakaryocytic thrombocytopenia genes and variants: MPL; 19 disease-causing, 166 uncertain
- Heinz body anemia genes and variants: HBA1 and HBB; 19 disease-causing, 15 uncertain
- Atypical hemolytic-uremic syndrome genes and variants: C3, C5, CFH and HBB; 18 disease-causing, 89 uncertain
- Beta-thalassemia HBB/LCRB genes and variants: HBB; 18 disease-causing, 20 uncertain
- Prothrombin deficiency genes and variants: F2; 17 disease-causing, 41 uncertain
- Thrombophilia, X-linked, due to factor 8 defect genes and variants: F8; 15 disease-causing, 20 uncertain
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema genes and variants: PIEZO1; 12 disease-causing, 41 uncertain
- Hemoglobinopathy genes and variants: HBB; 12 disease-causing, 1 uncertain
- Dominant beta-thalassemia genes and variants: HBB; 11 disease-causing, 4 uncertain
- Alpha Thalassemia genes and variants: HBA1 and HBB; 10 disease-causing, 16 uncertain
- METHEMOGLOBINEMIA, BETA TYPE genes and variants: HBB; 10 disease-causing, 5 uncertain
- Thrombocythemia 2 genes and variants: CALR, JAK2, MPL and SH2B3; 9 disease-causing, 21 uncertain
- Thrombophilia due to thrombin defect genes and variants: F2, MTHFR, F13A1 and F5; 9 disease-causing, 86 uncertain
- Essential thrombocythemia genes and variants: IFNAR1, IFNAR2, JAK2, JAK3 and 1 more; 8 disease-causing, 151 uncertain
- Deep venous thrombosis genes and variants: FGA and PROC; 6 disease-causing, 7 uncertain
- Fanconi anemia complementation group D2 genes and variants: FANCD2; 6 disease-causing, 207 uncertain
- Hemoglobin H disease genes and variants: HBA1; 6 disease-causing, 1 uncertain
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome genes and variants: CDC42; 6 disease-causing, 1 uncertain
- Thrombotic thrombocytopenic purpura genes and variants: ADAMTS13 and VWF; 6 disease-causing, 0 uncertain
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 genes and variants: MECOM; 5 disease-causing, 18 uncertain
- Fanconi anemia complementation group O genes and variants: RAD51C; 4 disease-causing, 710 uncertain
- Non-immune hydrops fetalis genes and variants: HRAS, PIEZO1 and PTPN11; 4 disease-causing, 3 uncertain
- DDX41-related hematologic malignancy predisposition syndrome genes and variants: DDX41; 3 disease-causing, 114 uncertain
- Fanconi anemia complementation group Q genes and variants: ERCC4; 3 disease-causing, 352 uncertain
- Fanconi anemia complementation group R genes and variants: RAD51; 3 disease-causing, 2 uncertain
- Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 genes and variants: RUNX1; 3 disease-causing, 37 uncertain
- Hereditary thrombophilia due to congenital protein C deficiency genes and variants: F2 and PROC; 3 disease-causing, 0 uncertain
- Hydrops fetalis genes and variants: FOXP3, L1CAM, RYR3 and PIEZO1; 3 disease-causing, 5 uncertain
- Pelger-Huët anomaly genes and variants: LBR; 3 disease-causing, 2 uncertain
- Atypical hemolytic-uremic syndrome with C3 anomaly genes and variants: C3; 2 disease-causing, 148 uncertain
- Bleeding disorder, platelet-type, 24 genes and variants: ITGB3; 2 disease-causing, 9 uncertain
- Diamond-Blackfan anemia genes and variants: GATA1; 2 disease-causing, 134 uncertain
- Fanconi anemia complementation group J genes and variants: BRIP1; 2 disease-causing, 1,827 uncertain
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis genes and variants: GATA1; 2 disease-causing, 134 uncertain
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia genes and variants: GATA1; 2 disease-causing, 7 uncertain
- Acquired polycythemia vera genes and variants: FLT3, IFNAR1, IFNAR2, JAK1 and 3 more; 1 disease-causing, 4 uncertain
- BLOOD GROUP, WALDNER genes and variants: SLC4A1; 1 disease-causing, 71 uncertain
- BLOOD GROUP--SWANN SYSTEM genes and variants: SLC4A1; 1 disease-causing, 54 uncertain
- Fanconi anemia complementation group C genes and variants: FANCC; 1 disease-causing, 76 uncertain
- Hemolytic anemia genes and variants: HBB, SLC4A1 and SPTB; 1 disease-causing, 11 uncertain
- Hemolytic uremic syndrome, atypical, susceptibility to, 1 genes and variants: CFH; 1 disease-causing, 6 uncertain
- Primary familial polycythemia due to EPO receptor mutation genes and variants: HBA1, JAK2 and SH2B3; 1 disease-causing, 6 uncertain
- Renal tubular acidosis, distal, 4, with hemolytic anemia genes and variants: SLC4A1; 1 disease-causing, 14 uncertain
- Thrombophilia due to activated protein C resistance genes and variants: F5; 1 disease-causing, 22 uncertain
Brain & nerves
- Charcot-Marie-Tooth disease genes and variants: GJB1, KIF5A, LMNA, MFN2 and 4 more; 304 disease-causing, 1,253 uncertain
- Severe myoclonic epilepsy in infancy genes and variants: HCN1 and SCN1A; 214 disease-causing, 65 uncertain
- Seizures, benign familial infantile, 3 genes and variants: KCNQ3, PRRT2, SCN2A and SCN8A; 183 disease-causing, 723 uncertain
- Adrenoleukodystrophy genes and variants: ABCD1; 174 disease-causing, 338 uncertain
- Episodic ataxia type 2 genes and variants: CACNA1A, KCNA1 and SCN2A; 135 disease-causing, 1,350 uncertain
- Alzheimer disease genes and variants: ACE, APOE, APP, ATP6V1A and 29 more; 120 disease-causing, 332 uncertain
- Generalized epilepsy with febrile seizures plus genes and variants: GABRG2, HCN1, SCN1A and SCN9A; 100 disease-causing, 1,297 uncertain
- Charcot-Marie-Tooth Neuropathy X genes and variants: GJB1; 90 disease-causing, 182 uncertain
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 genes and variants: NOTCH3; 89 disease-causing, 138 uncertain
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 genes and variants: GABRA1, GABRB3 and GABRG2; 80 disease-causing, 532 uncertain
- Frontotemporal dementia genes and variants: GRN, MAPT and PSEN1; 80 disease-causing, 169 uncertain
- Migraine, familial hemiplegic, 1 genes and variants: ATP1A2, CACNA1A and SCN1A; 65 disease-causing, 110 uncertain
- Seizures, benign familial neonatal, 1 genes and variants: KCNQ2 and KCNQ3; 64 disease-causing, 71 uncertain
- Epilepsy with myoclonic atonic seizures genes and variants: SLC6A1; 55 disease-causing, 213 uncertain
- Hypogonadotropic hypogonadism 2 with or without anosmia genes and variants: FGFR1; 55 disease-causing, 320 uncertain
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant genes and variants: GRIN1; 55 disease-causing, 221 uncertain
- Complex cortical dysplasia with other brain malformations 7 genes and variants: TUBB2B and TUBB3; 46 disease-causing, 39 uncertain
- Complex neurodevelopmental disorder genes and variants: ANK2, CHD2, DYRK1A, GRIN2B and 7 more; 38 disease-causing, 34 uncertain
- Frontotemporal dementia and/or amyotrophic lateral sclerosis genes and variants: C9ORF72, SQSTM1, TBK1 and VCP; 38 disease-causing, 650 uncertain
- Spinocerebellar ataxia type 6 genes and variants: ATXN1, ATXN2, CACNA1A, FAT2 and 2 more; 38 disease-causing, 118 uncertain
- Epilepsy, idiopathic generalized, susceptibility to, 13 genes and variants: CASR, GABRA1, SLC2A1, HCN4 and 2 more; 37 disease-causing, 299 uncertain
- Hereditary insensitivity to pain with anhidrosis genes and variants: NTRK1; 34 disease-causing, 362 uncertain
- Familial hemiplegic migraine genes and variants: ATP1A2; 33 disease-causing, 377 uncertain
- Charcot-Marie-Tooth disease type 2A2 genes and variants: MFN2; 32 disease-causing, 40 uncertain
- Encephalopathy due to GLUT1 deficiency genes and variants: SLC2A1; 32 disease-causing, 27 uncertain
- Febrile seizures, familial, 3a genes and variants: GABRG2 and SCN1A; 31 disease-causing, 194 uncertain
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia genes and variants: HNRNPA1 and VCP; 31 disease-causing, 139 uncertain
- Severe neonatal-onset encephalopathy with microcephaly genes and variants: MECP2; 29 disease-causing, 176 uncertain
- Neuropathy, hereditary sensory, type 2C genes and variants: ATL1 and KIF1A; 28 disease-causing, 305 uncertain
- Autosomal recessive DOPA responsive dystonia genes and variants: TH and GCH1; 25 disease-causing, 58 uncertain
- Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language genes and variants: MEF2C; 24 disease-causing, 100 uncertain
- Neurodevelopmental disorder with language impairment and behavioral abnormalities genes and variants: GRIA2; 24 disease-causing, 18 uncertain
- Autosomal recessive ataxia due to ubiquinone deficiency genes and variants: COQ8A; 23 disease-causing, 37 uncertain
- Cognitive impairment with or without cerebellar ataxia genes and variants: SCN8A; 22 disease-causing, 40 uncertain
- Idiopathic generalized epilepsy genes and variants: CASR, GABRA1, KCNMA1, SLC2A1 and 1 more; 21 disease-causing, 160 uncertain
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome genes and variants: ATP1A3; 18 disease-causing, 9 uncertain
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes genes and variants: AKT3, MTOR, PIK3CA and PIK3R2; 18 disease-causing, 11 uncertain
- Epilepsy genes and variants: ALDH5A1, CA2, CACNA1A, CACNA1B and 30 more; 17 disease-causing, 15 uncertain
- Intellectual disability-severe speech delay-mild dysmorphism syndrome genes and variants: FOXP1; 17 disease-causing, 41 uncertain
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 genes and variants: SETX; 17 disease-causing, 577 uncertain
- Cerebrooculofacioskeletal syndrome 2 genes and variants: ERCC2 and ERCC5; 16 disease-causing, 58 uncertain
- Neurodegeneration with brain iron accumulation genes and variants: ATP13A2 and WDR45; 16 disease-causing, 93 uncertain
- Autosomal recessive juvenile Parkinson disease 2 genes and variants: PRKN; 15 disease-causing, 31 uncertain
- Neuropathy, hereditary sensory and autonomic, type 2A genes and variants: KIF1A and SCN9A; 15 disease-causing, 1,214 uncertain
- Tremor, hereditary essential, 4 genes and variants: FUS and KDM6A; 15 disease-causing, 96 uncertain
- Auditory neuropathy genes and variants: CDH2, KIF5A, MFN2, MYO7A and 4 more; 14 disease-causing, 31 uncertain
- Autosomal recessive early-onset Parkinson disease 6 genes and variants: PARK7 and PINK1; 14 disease-causing, 153 uncertain
- Brain-lung-thyroid syndrome genes and variants: NKX2-1; 14 disease-causing, 11 uncertain
- Benign neonatal seizures genes and variants: KCNQ3; 13 disease-causing, 414 uncertain
- Leukoencephalopathy, diffuse hereditary, with spheroids 1 genes and variants: CSF1R; 13 disease-causing, 15 uncertain
- Macrocephaly-autism syndrome genes and variants: PTEN; 13 disease-causing, 18 uncertain
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome genes and variants: MTOR; 13 disease-causing, 53 uncertain
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 genes and variants: FKRP; 13 disease-causing, 34 uncertain
- Intellectual developmental disorder 62 genes and variants: DLG4, GRIA1 and SETD2; 12 disease-causing, 42 uncertain
- Autosomal dominant Parkinson disease 8 genes and variants: LRRK2, PRKN and SNCA; 11 disease-causing, 452 uncertain
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome genes and variants: TBCD; 10 disease-causing, 59 uncertain
- Generalized epilepsy-paroxysmal dyskinesia syndrome genes and variants: KCNA1 and KCNMA1; 10 disease-causing, 352 uncertain
- Intellectual developmental disorder with autism and macrocephaly genes and variants: CHD8; 10 disease-causing, 89 uncertain
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities genes and variants: KDM6B; 10 disease-causing, 63 uncertain
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy genes and variants: OPA1; 10 disease-causing, 12 uncertain
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; genes and variants: MFN2; 9 disease-causing, 19 uncertain
- Hereditary diffuse leukoencephalopathy with spheroids genes and variants: CSF1R; 9 disease-causing, 28 uncertain
- Spinal muscular atrophy genes and variants: SMN1; 9 disease-causing, 8 uncertain
- Autism genes and variants: CHD8, DRD2, HTR2A, HTR2C and 7 more; 8 disease-causing, 85 uncertain
- Blepharophimosis-impaired intellectual development syndrome genes and variants: SMARCA2; 8 disease-causing, 11 uncertain
- Cerebral cavernous malformation genes and variants: KRIT1; 8 disease-causing, 87 uncertain
- Encephalopathy, acute, infection-induced, susceptibility to, 4 genes and variants: CPT2; 8 disease-causing, 58 uncertain
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency genes and variants: SETD5; 8 disease-causing, 80 uncertain
- Lewy body dementia genes and variants: APOE, GBA1 and SNCA; 8 disease-causing, 9 uncertain
- Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities genes and variants: GNAI1; 8 disease-causing, 10 uncertain
- Parkinson disease, late-onset genes and variants: GBA1 and MAPT; 8 disease-causing, 21 uncertain
- Self-limited epilepsy with centrotemporal spikes genes and variants: GABRG2, GRIN2A, RELN, CHD2 and 5 more; 8 disease-causing, 0 uncertain
- Syndromic X-linked intellectual disability Najm type genes and variants: CASK; 8 disease-causing, 17 uncertain
- Autosomal recessive spinocerebellar ataxia 12 genes and variants: SPTBN2 and WWOX; 7 disease-causing, 370 uncertain
- Cerebral amyloid angiopathy, APP-related genes and variants: APP; 7 disease-causing, 9 uncertain
- Hypogonadotropic hypogonadism 5 with or without anosmia genes and variants: CHD7; 7 disease-causing, 321 uncertain
- Spastic ataxia genes and variants: DNMT1, SETX, SPG7, STXBP1 and 1 more; 7 disease-causing, 13 uncertain
- Benign familial infantile epilepsy genes and variants: PRRT2 and SCN2A; 6 disease-causing, 0 uncertain
- Charcot-Marie-tooth disease, axonal, type 2DD genes and variants: ATP1A1; 6 disease-causing, 10 uncertain
- Developmental disorder genes and variants: CASK, GRIN2B, SLC2A1, SOX2 and 2 more; 6 disease-causing, 25 uncertain
- Hypomagnesemia, seizures, and intellectual disability 2 genes and variants: ATP1A1; 6 disease-causing, 11 uncertain
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome genes and variants: CDC42; 6 disease-causing, 1 uncertain
- Microcephaly genes and variants: ABL1, DYRK1A, FOXG1, MAPK1 and 3 more; 6 disease-causing, 18 uncertain
- Neuropathy, hereditary motor and sensory, type 6A genes and variants: MFN2; 6 disease-causing, 13 uncertain
- Primary erythromelalgia genes and variants: SCN9A; 6 disease-causing, 35 uncertain
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis genes and variants: POLG; 6 disease-causing, 25 uncertain
- X-linked distal spinal muscular atrophy type 3 genes and variants: ATP7A; 6 disease-causing, 462 uncertain
- Auditory neuropathy spectrum disorder genes and variants: OTOF and PLP1; 5 disease-causing, 0 uncertain
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy genes and variants: DNMT1; 5 disease-causing, 27 uncertain
- Autosomal dominant epilepsy genes and variants: SCN1A and KCNQ2; 5 disease-causing, 1 uncertain
- Chronic infantile neurological, cutaneous and articular syndrome genes and variants: NLRP3; 5 disease-causing, 0 uncertain
- Familial amyloid polyneuropathy, Iowa type genes and variants: APOA1; 5 disease-causing, 14 uncertain
- Familial sleep-related hypermotor epilepsy genes and variants: CHRNA4 and GABRG2; 5 disease-causing, 386 uncertain
- Glycine encephalopathy genes and variants: PCDH19; 5 disease-causing, 1 uncertain
- Neurodegeneration with ataxia and late-onset optic atrophy genes and variants: SDHA; 5 disease-causing, 57 uncertain
- Paroxysmal extreme pain disorder genes and variants: IDH1 and SCN9A; 5 disease-causing, 35 uncertain
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome genes and variants: FGFR3; 5 disease-causing, 5 uncertain
- Severe intellectual disability-progressive spastic diplegia syndrome genes and variants: CTNNB1; 5 disease-causing, 13 uncertain
- Spastic tetraplegia and axial hypotonia, progressive genes and variants: SOD1; 5 disease-causing, 2 uncertain
- Young-onset Parkinson disease genes and variants: LRRK2, PARK7, PRKN and SYNJ1; 5 disease-causing, 2 uncertain
- ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder genes and variants: ADNP; 4 disease-causing, 46 uncertain
- Ataxia-telangiectasia syndrome genes and variants: ATM and BRAF; 4 disease-causing, 1,026 uncertain
- ATP1A3-associated neurological disorder genes and variants: ATP1A3; 4 disease-causing, 0 uncertain
- Childhood Onset VCP-related Neurodevelopmental Disorder genes and variants: VCP; 4 disease-causing, 1 uncertain
- Developmental delay, hypotonia, and impaired language genes and variants: FBXW7; 4 disease-causing, 12 uncertain
- Familial temporal lobe epilepsy 7 genes and variants: RELN; 4 disease-causing, 1,431 uncertain
- Focal epilepsy genes and variants: CACNA1A, MECP2, SCN10A, SCN1A and 3 more; 4 disease-causing, 4 uncertain
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability genes and variants: KIF11; 4 disease-causing, 26 uncertain
- Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures genes and variants: CACNA1A and CACNA1C; 4 disease-causing, 2 uncertain
- Obesity, hyperphagia, and developmental delay genes and variants: NTRK2; 4 disease-causing, 21 uncertain
- Peripheral neuropathy genes and variants: GJB1, KIF5A and MFN2; 4 disease-causing, 4 uncertain
- Spongiform encephalopathy with neuropsychiatric features genes and variants: PRNP; 4 disease-causing, 1 uncertain
- X-linked intellectual disability-psychosis-macroorchidism syndrome genes and variants: MECP2; 4 disease-causing, 8 uncertain
- Aldosterone-producing adenoma with seizures and neurological abnormalities genes and variants: CACNA1D; 3 disease-causing, 44 uncertain
- Cerebellar ataxia genes and variants: MFN2, SCN8A and SPTBN2; 3 disease-causing, 6 uncertain
- Cerebellar atrophy with seizures and variable developmental delay genes and variants: CACNA2D2; 3 disease-causing, 7 uncertain
- Channelopathy-associated congenital insensitivity to pain genes and variants: SCN9A; 3 disease-causing, 34 uncertain
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness genes and variants: MITF; 3 disease-causing, 7 uncertain
- Early-onset Parkinson disease 20 genes and variants: SYNJ1; 3 disease-causing, 2 uncertain
- Genetic developmental and epileptic encephalopathy genes and variants: ATP6V1A, CACNA1E, CACNA2D2, GABRG2 and 11 more; 3 disease-causing, 9 uncertain
- Hereditary motor and sensory neuropathy with optic atrophy genes and variants: MFN2; 3 disease-causing, 8 uncertain
- Hereditary sensory neuropathy-deafness-dementia syndrome genes and variants: DNMT1; 3 disease-causing, 483 uncertain
- Immunodeficiency, developmental delay, and hypohomocysteinemia genes and variants: NFE2L2; 3 disease-causing, 14 uncertain
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities genes and variants: BCL11B; 3 disease-causing, 19 uncertain
- Intellectual disability, CASK-related, X-linked genes and variants: CASK; 3 disease-causing, 142 uncertain
- Marfanoid habitus and intellectual disability genes and variants: ARID1B, KCNB1 and NSD1; 3 disease-causing, 11 uncertain
- Megalencephalic leukoencephalopathy with subcortical cysts genes and variants: MLC1; 3 disease-causing, 2 uncertain
- Neurodevelopmental disorder with or without autism or seizures genes and variants: CUL3; 3 disease-causing, 30 uncertain
- Rare genetic intellectual disability genes and variants: CREBBP, DNMT3A and EP300; 3 disease-causing, 1 uncertain
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations genes and variants: TREX1; 3 disease-causing, 249 uncertain
- Schizophrenia genes and variants: DRD2, DRD4, GRIN2A, HTR2A and 4 more; 3 disease-causing, 15 uncertain
- Visceral neuropathy, familial, 2, autosomal recessive genes and variants: ERBB2 and ERBB3; 3 disease-causing, 25 uncertain
- Ataxia-telangiectasia-like disorder genes and variants: MRE11; 2 disease-causing, 497 uncertain
- Brain abnormalities, neurodegeneration, and dysosteosclerosis genes and variants: CSF1R; 2 disease-causing, 15 uncertain
- Brain dopamine-serotonin vesicular transport disease genes and variants: SLC18A2; 2 disease-causing, 4 uncertain
- Dementia genes and variants: APOE, APP, GRIN2A, GRIN2B and 3 more; 2 disease-causing, 2 uncertain
- Early-onset autosomal dominant Alzheimer disease genes and variants: APOE, PSEN1 and PSEN2; 2 disease-causing, 0 uncertain
- Encephalopathy, porphyria-related genes and variants: HMBS; 2 disease-causing, 4 uncertain
- Hereditary ataxia genes and variants: ATP1A3, NKX2-1 and SPG7; 2 disease-causing, 13 uncertain
- Hereditary liability to pressure palsies genes and variants: PMP22; 2 disease-causing, 7 uncertain
- Leukoencephalopathy, porphyria-related genes and variants: HMBS; 2 disease-causing, 3 uncertain
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness genes and variants: SPTBN4; 2 disease-causing, 30 uncertain
- Syndromic X-linked intellectual disability Lubs type genes and variants: MECP2; 2 disease-causing, 6 uncertain
- Autosomal dominant nocturnal frontal lobe epilepsy genes and variants: CHRNA4, DEPDC5 and KCNT1; 1 disease-causing, 55 uncertain
- Cerebellar atrophy, developmental delay, and seizures genes and variants: CACNA2D2 and KCNMA1; 1 disease-causing, 8 uncertain
- Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy genes and variants: NOTCH3; 1 disease-causing, 0 uncertain
- Epilepsy, familial focal, with variable foci 1 genes and variants: DEPDC5; 1 disease-causing, 75 uncertain
- Episodic pain syndrome, familial, 2 genes and variants: SCN10A; 1 disease-causing, 79 uncertain
- Familial focal epilepsy with variable foci genes and variants: DEPDC5; 1 disease-causing, 828 uncertain
- Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies genes and variants: ATP1A2; 1 disease-causing, 5 uncertain
- Global developmental delay with or without impaired intellectual development genes and variants: CUX1; 1 disease-causing, 44 uncertain
- GRIN2A-related complex neurodevelopmental disorder genes and variants: GRIN2A; 1 disease-causing, 12 uncertain
- Hemorrhage, intracerebral, susceptibility to genes and variants: ACE; 1 disease-causing, 183 uncertain
- History of neurodevelopmental disorder genes and variants: ABCD1; 1 disease-causing, 5 uncertain
- Hypotonia, infantile, with psychomotor retardation and characteristic facies genes and variants: UNC80; 1 disease-causing, 79 uncertain
- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 genes and variants: HNRNPA1; 1 disease-causing, 2 uncertain
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 genes and variants: FKRP; 1 disease-causing, 20 uncertain
- Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset genes and variants: SQSTM1; 1 disease-causing, 3 uncertain
- Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities genes and variants: SHMT2; 1 disease-causing, 7 uncertain
- Neurodevelopmental disorder with hyperkinetic movements and dyskinesia genes and variants: ADCY5; 1 disease-causing, 4 uncertain
- Parkinson disease genes and variants: ATP13A2, AURKA, AURKB, AXL and 27 more; 1 disease-causing, 69 uncertain
- Parkinsonian disorder genes and variants: GRN; 1 disease-causing, 6 uncertain
- Parkinsonism-dystonia, infantile genes and variants: SLC6A3; 1 disease-causing, 109 uncertain
- Undetermined early-onset epileptic encephalopathy genes and variants: HCN1, KCNA2, KCNB1, SCN8A and 1 more; 1 disease-causing, 0 uncertain
- Uveal coloboma-cleft lip and palate-intellectual disability genes and variants: YAP1; 1 disease-causing, 6 uncertain
Muscles
- Bethlem myopathy genes and variants: COL6A1, COL6A2, COL6A3 and LMNA; 97 disease-causing, 2,500 uncertain
- Congenital myotonia, autosomal dominant form genes and variants: CLCN1; 92 disease-causing, 446 uncertain
- Congenital myotonia, autosomal recessive form genes and variants: CLCN1; 90 disease-causing, 453 uncertain
- Autosomal recessive limb-girdle muscular dystrophy genes and variants: DYSF, FKRP, SGCA, TTN and 1 more; 82 disease-causing, 199 uncertain
- Hyperkalemic periodic paralysis genes and variants: SCN4A and CLCN1; 63 disease-causing, 765 uncertain
- Walker-Warburg congenital muscular dystrophy genes and variants: FKRP; 44 disease-causing, 329 uncertain
- Desmin-related myofibrillar myopathy genes and variants: DES; 37 disease-causing, 475 uncertain
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia genes and variants: HNRNPA1 and VCP; 31 disease-causing, 139 uncertain
- Hypokalemic periodic paralysis genes and variants: CACNA1S, SCN4A and CLCN1; 26 disease-causing, 984 uncertain
- Congenital myasthenic syndrome 17 genes and variants: AGRN, LRP4, MUSK and SCN4A; 23 disease-causing, 801 uncertain
- X-linked myopathy with postural muscle atrophy genes and variants: FHL1; 17 disease-causing, 115 uncertain
- Paramyotonia congenita of Von Eulenburg genes and variants: SCN4A; 15 disease-causing, 158 uncertain
- Potassium-aggravated myotonia genes and variants: SCN4A; 14 disease-causing, 124 uncertain
- Ullrich congenital muscular dystrophy genes and variants: COL6A1, COL6A2 and COL6A3; 14 disease-causing, 75 uncertain
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 genes and variants: FKRP; 13 disease-causing, 34 uncertain
- Myofibrillar myopathy genes and variants: BAG3, DES, FLNC and LDB3; 13 disease-causing, 2,693 uncertain
- Myosin storage myopathy genes and variants: MYH7; 13 disease-causing, 102 uncertain
- Emery-Dreifuss muscular dystrophy genes and variants: FHL1, LMNA and TMEM43; 12 disease-causing, 103 uncertain
- Congenital muscular dystrophy due to LMNA mutation genes and variants: LAMA2 and LMNA; 11 disease-causing, 45 uncertain
- LAMA2-related muscular dystrophy genes and variants: LAMA2; 11 disease-causing, 1,101 uncertain
- Muscular dystrophy genes and variants: COL6A2, DMD, FKRP, LAMA2 and 2 more; 10 disease-causing, 5 uncertain
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy genes and variants: OPA1; 10 disease-causing, 12 uncertain
- Distal myopathy with posterior leg and anterior hand involvement genes and variants: FLNC; 9 disease-causing, 1,449 uncertain
- Merosin deficient congenital muscular dystrophy genes and variants: LAMA2; 9 disease-causing, 112 uncertain
- Central core myopathy genes and variants: RYR1; 8 disease-causing, 34 uncertain
- Congenital myopathy 22A, classic genes and variants: SCN4A; 8 disease-causing, 85 uncertain
- Eichsfeld type congenital muscular dystrophy genes and variants: SELENON; 7 disease-causing, 0 uncertain
- MYH7-related skeletal myopathy genes and variants: MYH7; 7 disease-causing, 39 uncertain
- Congenital myopathy with fiber type disproportion genes and variants: MYH7; 6 disease-causing, 58 uncertain
- Muscular dystrophy, limb-girdle, autosomal recessive 23 genes and variants: HMGCR, L1CAM and LAMA2; 6 disease-causing, 88 uncertain
- Muscular dystrophy-dystroglycanopathy type B5 genes and variants: FKRP; 6 disease-causing, 36 uncertain
- Myopathy, myosin storage, autosomal recessive genes and variants: MYH7; 6 disease-causing, 62 uncertain
- Myopathy genes and variants: CACNA1S, COL6A2, FHL1, FLNC and 5 more; 5 disease-causing, 207 uncertain
- Myopathy, reducing body, X-linked, early-onset, severe genes and variants: FHL1; 5 disease-causing, 6 uncertain
- Centronuclear myopathy genes and variants: FHL1 and RYR1; 4 disease-causing, 2 uncertain
- Collagen 6-related myopathy genes and variants: COL6A1, COL6A2 and COL6A3; 4 disease-causing, 211 uncertain
- Myopathy, centronuclear, 2 genes and variants: BIN1; 4 disease-causing, 256 uncertain
- Duchenne muscular dystrophy genes and variants: DMD; 3 disease-causing, 822 uncertain
- Limb-girdle muscular dystrophy genes and variants: DES, HMGCR and LMNA; 3 disease-causing, 14 uncertain
- Myopathy, reducing body, X-linked, childhood-onset genes and variants: FHL1; 3 disease-causing, 10 uncertain
- Nemaline myopathy genes and variants: FLNC and NEB; 3 disease-causing, 911 uncertain
- RYR1-related myopathy genes and variants: RYR1; 3 disease-causing, 3 uncertain
- SCN4A-related non-dystrophic myotonia genes and variants: SCN4A; 3 disease-causing, 3 uncertain
- Batten-Turner congenital myopathy genes and variants: CLCN1; 2 disease-causing, 20 uncertain
- Congenital multicore myopathy with external ophthalmoplegia genes and variants: RYR1; 2 disease-causing, 14 uncertain
- Congenital myopathy 22B, severe fetal genes and variants: SCN4A; 2 disease-causing, 76 uncertain
- Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency genes and variants: DMD; 1 disease-causing, 74 uncertain
- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 genes and variants: HNRNPA1; 1 disease-causing, 2 uncertain
- Mitochondrial neurogastrointestinal encephalomyopathy genes and variants: POLG; 1 disease-causing, 0 uncertain
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 genes and variants: FKRP; 1 disease-causing, 20 uncertain
- Myopathy, congenital, with structured cores and z-line abnormalities genes and variants: ACTN2; 1 disease-causing, 57 uncertain
- Myopathy, distal, 6, adult-onset, autosomal dominant genes and variants: ACTN2; 1 disease-causing, 50 uncertain
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy genes and variants: MYL2; 1 disease-causing, 10 uncertain
- SCN4A-related myopathy, autosomal recessive genes and variants: SCN4A; 1 disease-causing, 5 uncertain
- Thyrotoxic periodic paralysis, susceptibility to, 1 genes and variants: CACNA1S; 1 disease-causing, 131 uncertain
- X-linked scapuloperoneal muscular dystrophy genes and variants: FHL1; 1 disease-causing, 7 uncertain
Bones, skin & tissue
- Osteogenesis imperfecta genes and variants: ALPL, COL1A1, COL1A2 and LRP5; 576 disease-causing, 1,020 uncertain
- Marfan syndrome genes and variants: FBN1, TGFBR1 and TGFBR2; 439 disease-causing, 1,117 uncertain
- Ehlers-Danlos syndrome, classic type, 1 genes and variants: COL1A1, COL1A2, COL5A1 and COL5A2; 296 disease-causing, 1,980 uncertain
- Ehlers-Danlos syndrome genes and variants: COL1A1, COL1A2, COL3A1, COL5A1 and 6 more; 206 disease-causing, 922 uncertain
- Osteogenesis imperfecta, perinatal lethal genes and variants: COL1A1 and COL1A2; 94 disease-causing, 12 uncertain
- Osteogenesis imperfecta with normal sclerae, dominant form genes and variants: COL1A1 and COL1A2; 85 disease-causing, 14 uncertain
- Combined immunodeficiency with skin granulomas genes and variants: RAG1 and RAG2; 82 disease-causing, 391 uncertain
- FGFR2-related craniosynostosis genes and variants: FGFR2; 54 disease-causing, 179 uncertain
- Complex cortical dysplasia with other brain malformations 7 genes and variants: TUBB2B and TUBB3; 46 disease-causing, 39 uncertain
- Spondyloepiphyseal dysplasia congenita genes and variants: COL2A1; 38 disease-causing, 11 uncertain
- Oculodentodigital dysplasia genes and variants: GJA1; 37 disease-causing, 110 uncertain
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia genes and variants: HNRNPA1 and VCP; 31 disease-causing, 139 uncertain
- Menkes kinky-hair syndrome genes and variants: ATP7A; 29 disease-causing, 564 uncertain
- Camptomelic dysplasia genes and variants: SOX9; 26 disease-causing, 117 uncertain
- Connective tissue disorder genes and variants: COL2A1, FBN1, FGFR3, FLNB and 15 more; 21 disease-causing, 166 uncertain
- FGFR3-related chondrodysplasia genes and variants: FGFR3; 20 disease-causing, 107 uncertain
- Aneurysm-osteoarthritis syndrome genes and variants: SMAD3; 18 disease-causing, 111 uncertain
- Skeletal muscle channelopathy genes and variants: CACNA1S, CLCN1 and SCN4A; 18 disease-causing, 5 uncertain
- Spondyloepimetaphyseal dysplasia, Strudwick type genes and variants: COL2A1; 18 disease-causing, 0 uncertain
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 genes and variants: COL1A1 and COL1A2; 17 disease-causing, 8 uncertain
- Ehlers-Danlos syndrome, arthrochalasia type genes and variants: COL1A1 and COL1A2; 17 disease-causing, 40 uncertain
- Arrhythmogenic right ventricular dysplasia genes and variants: DSC2, DSP, JUP, LMNA and 3 more; 16 disease-causing, 2,925 uncertain
- Cerebrooculofacioskeletal syndrome 2 genes and variants: ERCC2 and ERCC5; 16 disease-causing, 58 uncertain
- Hypertrichotic osteochondrodysplasia Cantu type genes and variants: ABCC9; 15 disease-causing, 39 uncertain
- Infantile cortical hyperostosis genes and variants: COL1A1; 15 disease-causing, 15 uncertain
- Nonsyndromic congenital nail disorder 8 genes and variants: COL7A1; 15 disease-causing, 25 uncertain
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 genes and variants: RPA1 and TERT; 15 disease-causing, 34 uncertain
- Congenital heart defects and skeletal malformations syndrome genes and variants: ABL1; 14 disease-causing, 16 uncertain
- Type 2 collagenopathy genes and variants: COL2A1; 14 disease-causing, 32 uncertain
- Autosomal recessive hypophosphatemic bone disease genes and variants: SLC34A3; 13 disease-causing, 171 uncertain
- Familial partial lipodystrophy, Dunnigan type genes and variants: LMNA; 13 disease-causing, 25 uncertain
- Spondyloperipheral dysplasia genes and variants: COL2A1; 13 disease-causing, 12 uncertain
- Dominant dystrophic epidermolysis bullosa with absence of skin genes and variants: COL7A1; 12 disease-causing, 19 uncertain
- Frontometaphyseal dysplasia genes and variants: FLNA; 12 disease-causing, 713 uncertain
- Isolated focal cortical dysplasia type II genes and variants: MTOR, RHEB, TSC1 and TSC2; 12 disease-causing, 405 uncertain
- Marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections genes and variants: FBN1 and LOX; 10 disease-causing, 1 uncertain
- Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities genes and variants: KDM6B; 10 disease-causing, 63 uncertain
- Spondyloepiphyseal dysplasia, Stanescu type genes and variants: COL2A1; 10 disease-causing, 0 uncertain
- Hutchinson-Gilford syndrome genes and variants: LMNA; 9 disease-causing, 21 uncertain
- Osteoporosis with pseudoglioma genes and variants: LRP5; 9 disease-causing, 61 uncertain
- Platyspondylic dysplasia, Torrance type genes and variants: COL2A1; 9 disease-causing, 0 uncertain
- Trichothiodystrophy 1, photosensitive genes and variants: ERCC2; 9 disease-causing, 28 uncertain
- Dermatopathia pigmentosa reticularis genes and variants: KRT14; 8 disease-causing, 1 uncertain
- Kniest dysplasia genes and variants: COL2A1; 8 disease-causing, 3 uncertain
- Osteoporosis genes and variants: COL1A1, COL1A2, ESR1, LRP5 and 3 more; 8 disease-causing, 29 uncertain
- Thanatophoric dysplasia genes and variants: FGFR3; 8 disease-causing, 6 uncertain
- Cutis laxa genes and variants: ATP7A, ELN and LOX; 7 disease-causing, 551 uncertain
- MYH7-related skeletal myopathy genes and variants: MYH7; 7 disease-causing, 39 uncertain
- PPARG-related familial partial lipodystrophy genes and variants: PPARG; 7 disease-causing, 4 uncertain
- Acromicric dysplasia genes and variants: FBN1; 6 disease-causing, 39 uncertain
- Acroosteolysis-keloid-like lesions-premature aging syndrome genes and variants: PDGFRB; 6 disease-causing, 114 uncertain
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma genes and variants: DSP; 6 disease-causing, 1,833 uncertain
- Atelosteogenesis type I genes and variants: FLNB; 6 disease-causing, 41 uncertain
- Autosomal dominant osteopetrosis 1 genes and variants: LRP5; 6 disease-causing, 97 uncertain
- Avascular necrosis of femoral head, primary, 1 genes and variants: COL2A1; 6 disease-causing, 6 uncertain
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome genes and variants: KMT2D; 6 disease-causing, 354 uncertain
- Common craniosynostosis syndromes genes and variants: FGFR2 and FGFR3; 6 disease-causing, 2 uncertain
- Ehlers-Danlos syndrome, cardiac valvular type genes and variants: COL1A2; 6 disease-causing, 4 uncertain
- Geleophysic dysplasia genes and variants: FBN1; 6 disease-causing, 21 uncertain
- Multiple epiphyseal dysplasia, Beighton type genes and variants: COL2A1; 6 disease-causing, 11 uncertain
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome genes and variants: COL3A1; 6 disease-causing, 69 uncertain
- Short-rib thoracic dysplasia 10 with or without polydactyly genes and variants: IFT172; 6 disease-causing, 616 uncertain
- Bone mineral density quantitative trait locus 1 genes and variants: LRP5; 5 disease-causing, 159 uncertain
- Bone osteosarcoma genes and variants: CHEK2, RB1 and TP53; 5 disease-causing, 68 uncertain
- Ectodermal dysplasia and immunodeficiency 2 genes and variants: NFKBIA; 5 disease-causing, 121 uncertain
- Immunodeficiency 11b with atopic dermatitis genes and variants: CARD11; 5 disease-causing, 19 uncertain
- Metaphyseal chondrodysplasia, Jansen type genes and variants: PTH1R; 5 disease-causing, 45 uncertain
- Osteoglophonic dysplasia genes and variants: FGFR1; 5 disease-causing, 18 uncertain
- Acute febrile neutrophilic dermatosis genes and variants: MEFV; 4 disease-causing, 199 uncertain
- Cardiac valvular dysplasia, X-linked genes and variants: FLNA; 4 disease-causing, 22 uncertain
- Collagen 6-related myopathy genes and variants: COL6A1, COL6A2 and COL6A3; 4 disease-causing, 211 uncertain
- Greenberg dysplasia genes and variants: LBR; 4 disease-causing, 38 uncertain
- Mandibuloacral dysplasia with type A lipodystrophy genes and variants: LMNA; 4 disease-causing, 27 uncertain
- Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures genes and variants: CACNA1A and CACNA1C; 4 disease-causing, 2 uncertain
- Postmenopausal osteoporosis genes and variants: COL1A1, COL1A2, ESR1, PTH1R and 2 more; 4 disease-causing, 3 uncertain
- Sclerosteosis genes and variants: LRP4 and SOST; 4 disease-causing, 474 uncertain
- Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans genes and variants: ACAN; 4 disease-causing, 14 uncertain
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome genes and variants: PDGFRB; 4 disease-causing, 95 uncertain
- Angioosteohypertrophic syndrome genes and variants: GNAQ, PIK3CA and RASA1; 3 disease-causing, 0 uncertain
- Beare-Stevenson cutis gyrata syndrome genes and variants: FGFR2; 3 disease-causing, 14 uncertain
- Boomerang dysplasia genes and variants: FLNB; 3 disease-causing, 13 uncertain
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness genes and variants: MITF; 3 disease-causing, 7 uncertain
- Hidrotic ectodermal dysplasia syndrome genes and variants: GJB6; 3 disease-causing, 24 uncertain
- Marfanoid habitus and intellectual disability genes and variants: ARID1B, KCNB1 and NSD1; 3 disease-causing, 11 uncertain
- Paget disease of bone 2, early-onset genes and variants: SQSTM1; 3 disease-causing, 309 uncertain
- Spondyloepimetaphyseal dysplasia, aggrecan type genes and variants: ACAN; 3 disease-causing, 12 uncertain
- Spondyloepiphyseal dysplasia with metatarsal shortening genes and variants: COL2A1; 3 disease-causing, 6 uncertain
- Stiff skin syndrome genes and variants: FBN1; 3 disease-causing, 25 uncertain
- Autosomal recessive cutis laxa type 2 genes and variants: ATP6V1A; 2 disease-causing, 1 uncertain
- Brain abnormalities, neurodegeneration, and dysosteosclerosis genes and variants: CSF1R; 2 disease-causing, 15 uncertain
- Chondrodysplasia Blomstrand type genes and variants: PTH1R; 2 disease-causing, 34 uncertain
- Craniosynostosis syndrome genes and variants: FGFR3, GRIN2B, FGFR1 and FGFR2; 2 disease-causing, 16 uncertain
- Familial isolated arrhythmogenic right ventricular dysplasia genes and variants: DSC2, DSP, PKP2 and TMEM43; 2 disease-causing, 326 uncertain
- Osteopetrosis with renal tubular acidosis genes and variants: CA2; 2 disease-causing, 33 uncertain
- Progeroid and marfanoid aspect-lipodystrophy syndrome genes and variants: FBN1; 2 disease-causing, 18 uncertain
- Regressive spondylometaphyseal dysplasia genes and variants: LBR; 2 disease-causing, 5 uncertain
- Skeletal dysplasia genes and variants: COL1A2 and LRP5; 2 disease-causing, 3 uncertain
- Arrhythmogenic right ventricular dysplasia, familial, 14 genes and variants: CDH2; 1 disease-causing, 5 uncertain
- Bent bone dysplasia syndrome 1 genes and variants: FGFR2; 1 disease-causing, 46 uncertain
- Bone marrow failure syndrome genes and variants: MDM4 and TP53; 1 disease-causing, 5 uncertain
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome genes and variants: FGFR3; 1 disease-causing, 7 uncertain
- Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis genes and variants: DSP; 1 disease-causing, 54 uncertain
- Cranioectodermal dysplasia genes and variants: WDR19; 1 disease-causing, 84 uncertain
- Gaze palsy, familial horizontal, with progressive scoliosis, 2 genes and variants: DCC; 1 disease-causing, 3 uncertain
- Osteofibrous dysplasia genes and variants: MET; 1 disease-causing, 48 uncertain
- Paget disease of bone 3 genes and variants: SQSTM1; 1 disease-causing, 15 uncertain
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 genes and variants: POT1; 1 disease-causing, 15 uncertain
- Restrictive dermopathy 2 genes and variants: LMNA; 1 disease-causing, 17 uncertain
- Short stature due to partial GHR deficiency genes and variants: GHR; 1 disease-causing, 17 uncertain
- Uruguay Faciocardiomusculoskeletal syndrome genes and variants: FHL1; 1 disease-causing, 6 uncertain
Lungs & breathing
- Cystic fibrosis genes and variants: CFTR; 155 disease-causing, 1,436 uncertain
- Pulmonary hypertension, primary, 1 genes and variants: ACVRL1 and BMPR2; 41 disease-causing, 86 uncertain
- Pulmonary arterial hypertension genes and variants: ACVRL1, BMPR2, EDNRB, EIF2AK4 and 2 more; 32 disease-causing, 33 uncertain
- Interstitial lung disease due to ABCA3 deficiency genes and variants: ABCA3; 30 disease-causing, 106 uncertain
- Pulmonary hypertension, neonatal, susceptibility to genes and variants: CPS1; 29 disease-causing, 27 uncertain
- Hereditary pulmonary alveolar proteinosis genes and variants: ABCA3, SFTPB and SFTPC; 19 disease-causing, 405 uncertain
- Bronchiectasis with or without elevated sweat chloride 1 genes and variants: CFTR; 18 disease-causing, 79 uncertain
- Non-small cell lung carcinoma genes and variants: ALK, BRAF, CD274, CDKN2A and 31 more; 16 disease-causing, 1 uncertain
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 genes and variants: RPA1 and TERT; 15 disease-causing, 34 uncertain
- Brain-lung-thyroid syndrome genes and variants: NKX2-1; 14 disease-causing, 11 uncertain
- Idiopathic pulmonary fibrosis genes and variants: DSP, FGFR1, FGFR4, PDGFRA and 3 more; 13 disease-causing, 1,078 uncertain
- Primary pulmonary hypertension genes and variants: BMPR2; 13 disease-causing, 81 uncertain
- Familial pulmonary capillary hemangiomatosis genes and variants: EIF2AK4; 9 disease-causing, 10 uncertain
- Lung adenocarcinoma genes and variants: ARID1A, BRAF, CDKN2A, EGFR and 12 more; 9 disease-causing, 8 uncertain
- Lung cancer genes and variants: ALK, BRAF, CD274, EGFR and 6 more; 9 disease-causing, 40 uncertain
- Surfactant metabolism dysfunction, pulmonary, 1 genes and variants: ABCA3, SFTPB and SFTPC; 8 disease-causing, 44 uncertain
- Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia genes and variants: ACVRL1; 6 disease-causing, 0 uncertain
- Café-au-lait macules with pulmonary stenosis genes and variants: NF1; 2 disease-causing, 6 uncertain
- Lung carcinoma genes and variants: BRAF, CHEK2, EGFR and TERT; 2 disease-causing, 2 uncertain
- Pulmonary arterial hypertension associated with congenital heart disease genes and variants: BMPR2; 2 disease-causing, 3 uncertain
- Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies genes and variants: ATP1A2; 1 disease-causing, 5 uncertain
- Interstitial lung disease genes and variants: FGFR1, FGFR4, PDGFRA, PDGFRB and 3 more; 1 disease-causing, 36 uncertain
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 genes and variants: POT1; 1 disease-causing, 15 uncertain
- Respiratory papillomatosis, juvenile recurrent, congenital genes and variants: NLRP1; 1 disease-causing, 4 uncertain
- Susceptibility to respiratory infections associated with CD8alpha chain mutation genes and variants: CD8A; 1 disease-causing, 71 uncertain
Liver & digestion
- Wilson disease genes and variants: ATP7B; 222 disease-causing, 992 uncertain
- Gastrointestinal stromal tumor genes and variants: ABL1, BCR, CSF1R, FLT3 and 7 more; 93 disease-causing, 3,420 uncertain
- Cholestanol storage disease genes and variants: CYP27A1; 28 disease-causing, 304 uncertain
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins genes and variants: MMUT and TRMU; 13 disease-causing, 34 uncertain
- Melanoma-pancreatic cancer syndrome genes and variants: CDKN2A; 11 disease-causing, 22 uncertain
- Adams-Oliver syndrome genes and variants: NOTCH1 and NOTCH3; 10 disease-causing, 1,311 uncertain
- Hereditary pancreatitis genes and variants: CFTR and SPG7; 8 disease-causing, 42 uncertain
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome genes and variants: ACADVL and GATA6; 8 disease-causing, 8 uncertain
- Inflammatory bowel disease genes and variants: BACH2, CD40, IL10, IL10RA and 4 more; 7 disease-causing, 221 uncertain
- Hepatocellular carcinoma genes and variants: APC, ARID1A, ARID2, BRAF and 15 more; 6 disease-causing, 54 uncertain
- Polycystic liver disease 4 with or without kidney cysts genes and variants: LRP5; 6 disease-causing, 74 uncertain
- Familial pancreatic carcinoma genes and variants: ATM, BRCA1, BRCA2, KRAS and 4 more; 4 disease-causing, 25 uncertain
- Pancreatic agenesis 1 genes and variants: PDX1; 4 disease-causing, 33 uncertain
- Carcinoma of pancreas genes and variants: STK11, TP53 and SMAD4; 3 disease-causing, 15 uncertain
- Autosomal dominant polycystic liver disease genes and variants: CTNNB1 and LRP5; 2 disease-causing, 3 uncertain
- Hepatoblastoma genes and variants: CTNNB1; 1 disease-causing, 2 uncertain
- Hyperlipidemia due to hepatic triglyceride lipase deficiency genes and variants: LIPC; 1 disease-causing, 28 uncertain
- Mitochondrial neurogastrointestinal encephalomyopathy genes and variants: POLG; 1 disease-causing, 0 uncertain
Hearing & vision
- Retinitis pigmentosa genes and variants: ABCA4, ALMS1, BBS1, BBS2 and 21 more; 399 disease-causing, 1,850 uncertain
- Autosomal recessive nonsyndromic hearing loss 4 genes and variants: CLDN14, FOXI1, GJB2, GJB6 and 8 more; 211 disease-causing, 844 uncertain
- Severe early-childhood-onset retinal dystrophy genes and variants: ABCA4 and CRB1; 148 disease-causing, 64 uncertain
- Usher syndrome genes and variants: MYO7A, PCDH15, USH1C and USH2A; 128 disease-causing, 656 uncertain
- Pendred syndrome genes and variants: KCNJ10, SLC26A4 and FOXI1; 107 disease-causing, 114 uncertain
- RPE65-related recessive retinopathy genes and variants: RPE65; 83 disease-causing, 12 uncertain
- Rare genetic deafness genes and variants: COL4A5, EYA1, GJB2, KCNQ4 and 7 more; 76 disease-causing, 7 uncertain
- Autosomal dominant nonsyndromic hearing loss genes and variants: GJB2, GJB6, KCNQ4, MYO7A and 5 more; 67 disease-causing, 373 uncertain
- ABCA4-related retinopathy genes and variants: ABCA4; 60 disease-causing, 28 uncertain
- Age related macular degeneration 9 genes and variants: ABCA4, APOE, C3, CETP and 3 more; 44 disease-causing, 173 uncertain
- Nonsyndromic genetic hearing loss genes and variants: GJB2, KCNQ4, MYO7A, OTOF and 1 more; 44 disease-causing, 30 uncertain
- Vitelliform macular dystrophy 2 genes and variants: BEST1 and PRPH2; 42 disease-causing, 31 uncertain
- Deafness-lymphedema-leukemia syndrome genes and variants: GATA2; 35 disease-causing, 596 uncertain
- Retinoblastoma genes and variants: RB1; 33 disease-causing, 1,126 uncertain
- Perrault syndrome genes and variants: FBN1, HSD17B4 and CLDN14; 30 disease-causing, 194 uncertain
- Hearing loss genes and variants: ATP7B, CLDN14, GJB2, GJB6 and 8 more; 21 disease-causing, 18 uncertain
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome genes and variants: ATP1A3; 18 disease-causing, 9 uncertain
- Exudative vitreoretinopathy 4 genes and variants: LRP5; 17 disease-causing, 207 uncertain
- Monogenic hearing loss genes and variants: COL4A5, GJB2, KCNQ1, KCNQ4 and 3 more; 16 disease-causing, 8 uncertain
- Hypoparathyroidism, deafness, renal disease syndrome genes and variants: GATA3; 14 disease-causing, 57 uncertain
- Retinal disorder genes and variants: ABCA4, BEST1, C3, CETP and 4 more; 14 disease-causing, 11 uncertain
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome genes and variants: GJB2; 13 disease-causing, 4 uncertain
- Autosomal dominant optic atrophy classic form genes and variants: OPA1; 13 disease-causing, 28 uncertain
- Ichthyosis, hystrix-like, with hearing loss genes and variants: GJB2; 13 disease-causing, 13 uncertain
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 genes and variants: FKRP; 13 disease-causing, 34 uncertain
- Paragangliomas with sensorineural hearing loss genes and variants: SDHD; 13 disease-causing, 160 uncertain
- Patterned dystrophy of the retinal pigment epithelium genes and variants: PRPH2; 11 disease-causing, 5 uncertain
- Pigmented paravenous retinochoroidal atrophy genes and variants: CRB1; 11 disease-causing, 56 uncertain
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome genes and variants: TBCD; 10 disease-causing, 59 uncertain
- Knuckle pads, deafness AND leukonychia syndrome genes and variants: GJB2; 10 disease-causing, 1 uncertain
- Optic atrophy genes and variants: ABCA4, ABCC6, OPA1 and WDR45; 10 disease-causing, 17 uncertain
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy genes and variants: OPA1; 10 disease-causing, 12 uncertain
- Palmoplantar keratoderma-deafness syndrome genes and variants: GJB2; 10 disease-causing, 1 uncertain
- Autosomal dominant vitreoretinochoroidopathy genes and variants: BEST1; 9 disease-causing, 13 uncertain
- Bilateral sensorineural hearing impairment genes and variants: FGFR2, KCNQ4, OTOF and KCNJ10; 9 disease-causing, 2 uncertain
- Congenital stationary night blindness autosomal dominant 3 genes and variants: GNAT1, PDE6B, RHO and ABCA4; 9 disease-causing, 66 uncertain
- Pigmentary retinal dystrophy genes and variants: PRPH2, RHO and RLBP1; 8 disease-causing, 20 uncertain
- Fish-eye disease genes and variants: LCAT; 7 disease-causing, 44 uncertain
- Hyperthyroxinemia, dystransthyretinemic genes and variants: TTR; 7 disease-causing, 21 uncertain
- Renal tubular acidosis with progressive nerve deafness genes and variants: ATP6V1B1; 7 disease-causing, 95 uncertain
- Aminoglycoside-induced deafness genes and variants: TRMU; 6 disease-causing, 5 uncertain
- Autosomal recessive retinitis pigmentosa genes and variants: ABCA4, CRB1, EYS, MERTK and 4 more; 6 disease-causing, 2 uncertain
- Deafness genes and variants: CLDN14, GJB2, MYO7A, OTOF and 5 more; 6 disease-causing, 0 uncertain
- RPGR-related retinopathy genes and variants: RPGR; 6 disease-causing, 7 uncertain
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy genes and variants: DNMT1; 5 disease-causing, 27 uncertain
- Isolated macular dystrophy genes and variants: ABCA4, BEST1 and COL4A5; 5 disease-causing, 2 uncertain
- Neurodegeneration with ataxia and late-onset optic atrophy genes and variants: SDHA; 5 disease-causing, 57 uncertain
- Patterned macular dystrophy 1 genes and variants: PRPH2 and CTNNA1; 5 disease-causing, 100 uncertain
- Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability genes and variants: KIF11; 4 disease-causing, 26 uncertain
- Sensorineural hearing loss disorder genes and variants: FOXI1, SLC12A2, SLC26A4 and USH2A; 4 disease-causing, 4 uncertain
- BEST1-related dominant retinopathy genes and variants: BEST1; 3 disease-causing, 5 uncertain
- Bothnia retinal dystrophy genes and variants: RLBP1; 3 disease-causing, 5 uncertain
- Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness genes and variants: MITF; 3 disease-causing, 7 uncertain
- Hereditary motor and sensory neuropathy with optic atrophy genes and variants: MFN2; 3 disease-causing, 8 uncertain
- Hereditary sensory neuropathy-deafness-dementia syndrome genes and variants: DNMT1; 3 disease-causing, 483 uncertain
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations genes and variants: TREX1; 3 disease-causing, 249 uncertain
- Cataract genes and variants: RHO and VIM; 2 disease-causing, 20 uncertain
- Glaucoma 1, open angle, E genes and variants: OPTN; 2 disease-causing, 139 uncertain
- Hereditary retinoblastoma genes and variants: RB1; 2 disease-causing, 1 uncertain
- Neurodevelopmental disorder with hypotonia, neuropathy, and deafness genes and variants: SPTBN4; 2 disease-causing, 30 uncertain
- Retinitis pigmentosa 87 with choroidal involvement genes and variants: RPE65; 2 disease-causing, 5 uncertain
- Sinoatrial node dysfunction and deafness genes and variants: CACNA1D; 2 disease-causing, 27 uncertain
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome genes and variants: FGFR3; 1 disease-causing, 7 uncertain
- Coloboma of optic nerve genes and variants: PAX6; 1 disease-causing, 3 uncertain
- Familial exudative vitreoretinopathy genes and variants: CTNNB1 and LRP5; 1 disease-causing, 0 uncertain
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 genes and variants: FKRP; 1 disease-causing, 20 uncertain
- Primary open angle glaucoma genes and variants: OPTN; 1 disease-causing, 149 uncertain
- X-linked mixed hearing loss with perilymphatic gusher genes and variants: GJB2 and GJB6; 1 disease-causing, 2 uncertain
Metabolism & hormones
- Hypercholesterolemia, familial, 1 genes and variants: APOB, GHR, LDLR and PCSK9; 568 disease-causing, 653 uncertain
- Familial hypercholesterolemia genes and variants: ANGPTL3, APOB, APOE, HMGCR and 2 more; 302 disease-causing, 948 uncertain
- Monogenic diabetes genes and variants: ABCC8, GCK, HNF4A, INS and 8 more; 289 disease-causing, 210 uncertain
- Hereditary factor VIII deficiency disease genes and variants: ACVRL1, F8 and F9; 276 disease-causing, 99 uncertain
- Wilson disease genes and variants: ATP7B; 222 disease-causing, 992 uncertain
- Glycogen storage disease genes and variants: ALDOB, G6PC1, GAA and SLC37A4; 221 disease-causing, 809 uncertain
- Hereditary factor IX deficiency disease genes and variants: F8 and F9; 192 disease-causing, 51 uncertain
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency genes and variants: G6PD; 182 disease-causing, 108 uncertain
- Hypophosphatasia genes and variants: ALPL; 172 disease-causing, 88 uncertain
- Very long chain acyl-CoA dehydrogenase deficiency genes and variants: ACADVL; 149 disease-causing, 501 uncertain
- Ornithine carbamoyltransferase deficiency genes and variants: OTC; 135 disease-causing, 141 uncertain
- Medium-chain acyl-coenzyme A dehydrogenase deficiency genes and variants: ACADM; 117 disease-causing, 145 uncertain
- Adult hypophosphatasia genes and variants: ALPL; 113 disease-causing, 65 uncertain
- Multiple acyl-CoA dehydrogenase deficiency genes and variants: ETFB and ETFDH; 96 disease-causing, 272 uncertain
- Maturity-onset diabetes of the young genes and variants: ABCC8, GCK, HNF1B, HNF4A and 3 more; 94 disease-causing, 460 uncertain
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive genes and variants: JAK3, RAG1 and RAG2; 84 disease-causing, 412 uncertain
- Combined immunodeficiency with skin granulomas genes and variants: RAG1 and RAG2; 82 disease-causing, 391 uncertain
- Renal cysts and diabetes syndrome genes and variants: HNF1B and HNF4A; 71 disease-causing, 95 uncertain
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase genes and variants: GALT; 65 disease-causing, 94 uncertain
- Glycogen storage disease due to glucose-6-phosphatase deficiency genes and variants: ASS1, G6PC1 and SLC37A4; 65 disease-causing, 94 uncertain
- Hereditary antithrombin deficiency genes and variants: SERPINC1; 61 disease-causing, 99 uncertain
- Childhood hypophosphatasia genes and variants: ALPL; 60 disease-causing, 48 uncertain
- Deficiency of acetyl-CoA acetyltransferase genes and variants: ACAT1; 55 disease-causing, 94 uncertain
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency genes and variants: MMUT; 55 disease-causing, 68 uncertain
- Succinate-semialdehyde dehydrogenase deficiency genes and variants: ALDH5A1; 55 disease-causing, 252 uncertain
- GLUT1 deficiency syndrome genes and variants: SLC2A1; 53 disease-causing, 226 uncertain
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency genes and variants: MMUT; 53 disease-causing, 10 uncertain
- Glutaric acidemia IIc genes and variants: ETFDH; 51 disease-causing, 17 uncertain
- Thrombophilia due to protein C deficiency, autosomal dominant genes and variants: PROC; 50 disease-causing, 125 uncertain
- Congenital adrenal hyperplasia genes and variants: CYP11B1, CYP17A1, CYP21A2, HSD3B2 and 1 more; 49 disease-causing, 9 uncertain
- Hereditary factor XI deficiency disease genes and variants: F11; 48 disease-causing, 52 uncertain
- 3-methylcrotonyl-CoA carboxylase 2 deficiency genes and variants: MCCC2; 46 disease-causing, 164 uncertain
- Hyperinsulinemic hypoglycemia, familial, 1 genes and variants: ABCC8, GCK and KCNJ11; 45 disease-causing, 206 uncertain
- Type 2 diabetes mellitus genes and variants: ABCC8, ACE, ADCY5, AGTR1 and 28 more; 45 disease-causing, 335 uncertain
- Hyperlipoproteinemia genes and variants: APOA5, APOC2, APOE, HMGCR and 1 more; 44 disease-causing, 46 uncertain
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency genes and variants: ADA; 44 disease-causing, 118 uncertain
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency genes and variants: SRD5A2; 43 disease-causing, 26 uncertain
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency genes and variants: MTHFR; 43 disease-causing, 148 uncertain
- Deficiency of steroid 17-alpha-monooxygenase genes and variants: CYP17A1; 40 disease-causing, 21 uncertain
- Infantile hypophosphatasia genes and variants: ALPL; 40 disease-causing, 41 uncertain
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency genes and variants: STAT1; 38 disease-causing, 149 uncertain
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia genes and variants: CYP21A2; 37 disease-causing, 53 uncertain
- Diabetes mellitus, permanent neonatal 3 genes and variants: ABCC8, INS and KCNJ11; 35 disease-causing, 54 uncertain
- Severe combined immunodeficiency disease genes and variants: ADA, DOCK8, IL7R, JAK3 and 2 more; 35 disease-causing, 3 uncertain
- Thyroid hormone resistance, generalized, autosomal dominant genes and variants: THRB; 35 disease-causing, 16 uncertain
- Plasma factor XI deficiency genes and variants: F11; 34 disease-causing, 25 uncertain
- Bifunctional peroxisomal enzyme deficiency genes and variants: HSD17B4; 33 disease-causing, 212 uncertain
- Deficiency of steroid 11-beta-monooxygenase genes and variants: CYP11B1; 33 disease-causing, 111 uncertain
- Dyslipidemia genes and variants: LDLR; 32 disease-causing, 17 uncertain
- Encephalopathy due to GLUT1 deficiency genes and variants: SLC2A1; 32 disease-causing, 27 uncertain
- GATA2 deficiency with susceptibility to MDS/AML genes and variants: GATA2; 32 disease-causing, 18 uncertain
- Methylmalonic acidemia genes and variants: MMUT; 32 disease-causing, 2 uncertain
- Phenylketonuria genes and variants: COL1A1 and PAH; 32 disease-causing, 8 uncertain
- Alpha-1-antitrypsin deficiency genes and variants: SERPINA1; 30 disease-causing, 42 uncertain
- Interstitial lung disease due to ABCA3 deficiency genes and variants: ABCA3; 30 disease-causing, 106 uncertain
- Methylcrotonyl-CoA carboxylase deficiency genes and variants: MCCC1 and MCCC2; 30 disease-causing, 7 uncertain
- X-linked severe combined immunodeficiency genes and variants: IL2RG; 30 disease-causing, 88 uncertain
- Homozygous familial hypercholesterolemia genes and variants: APOB, LDLR and PCSK9; 29 disease-causing, 2 uncertain
- Neonatal diabetes mellitus genes and variants: ABCC8, INS and KCNJ11; 29 disease-causing, 12 uncertain
- Pseudohypoparathyroidism type I A genes and variants: GNAS; 29 disease-causing, 13 uncertain
- Sphingomyelin/cholesterol lipidosis genes and variants: NPC1 and SMPD1; 29 disease-causing, 12 uncertain
- Cholestanol storage disease genes and variants: CYP27A1; 28 disease-causing, 304 uncertain
- Familial hyperinsulinism genes and variants: ABCC8, GCK and KCNJ11; 27 disease-causing, 9 uncertain
- Mitochondrial DNA depletion syndrome genes and variants: POLG; 26 disease-causing, 53 uncertain
- Nephrogenic diabetes insipidus genes and variants: AQP2 and AVPR2; 26 disease-causing, 8 uncertain
- Thrombophilia due to protein S deficiency, autosomal recessive genes and variants: PROS1; 26 disease-causing, 163 uncertain
- Diabetes insipidus, nephrogenic, X-linked genes and variants: AVPR2; 25 disease-causing, 36 uncertain
- Recombinase activating gene 2 deficiency genes and variants: RAG2; 25 disease-causing, 22 uncertain
- Acyl-CoA dehydrogenase 9 deficiency genes and variants: ACAD9; 24 disease-causing, 68 uncertain
- Hypothyroidism due to TSH receptor mutations genes and variants: TSHR; 24 disease-causing, 31 uncertain
- Autosomal recessive ataxia due to ubiquinone deficiency genes and variants: COQ8A; 23 disease-causing, 37 uncertain
- Pyruvate kinase deficiency of red cells genes and variants: PKLR; 23 disease-causing, 46 uncertain
- Carnitine deficiency genes and variants: SLC22A5; 22 disease-causing, 17 uncertain
- Diabetes mellitus, transient neonatal, 2 genes and variants: ABCC8 and KCNJ11; 22 disease-causing, 204 uncertain
- Hereditary hyperinsulinism genes and variants: ABCC8; 22 disease-causing, 38 uncertain
- Mitochondrial trifunctional protein deficiency genes and variants: HADHB; 22 disease-causing, 113 uncertain
- T-B+ severe combined immunodeficiency due to JAK3 deficiency genes and variants: IL7R, JAK3 and PTPRC; 22 disease-causing, 256 uncertain
- 3-methylcrotonyl-CoA carboxylase 1 deficiency genes and variants: MCCC1; 21 disease-causing, 210 uncertain
- Acute intermittent porphyria genes and variants: HMBS; 21 disease-causing, 31 uncertain
- Deficiency of iodide peroxidase genes and variants: TPO; 20 disease-causing, 47 uncertain
- Testosterone 17-beta-dehydrogenase deficiency genes and variants: HSD17B3; 20 disease-causing, 10 uncertain
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency genes and variants: HMGCS2; 19 disease-causing, 96 uncertain
- GTP cyclohydrolase I deficiency genes and variants: GCH1; 19 disease-causing, 135 uncertain
- Childhood onset GLUT1 deficiency syndrome 2 genes and variants: SLC2A1; 18 disease-causing, 24 uncertain
- Familial hyperthyroidism due to mutations in TSH receptor genes and variants: TSHR; 18 disease-causing, 21 uncertain
- Hyperlipidemia, familial combined, LPL related genes and variants: LPL; 18 disease-causing, 21 uncertain
- Mitochondrial complex II deficiency, nuclear type 1 genes and variants: SDHA and SDHD; 18 disease-causing, 1,136 uncertain
- 3 beta-Hydroxysteroid dehydrogenase deficiency genes and variants: HSD3B2; 17 disease-causing, 43 uncertain
- Permanent neonatal diabetes mellitus genes and variants: ABCC8, GCK, INS and KCNJ11; 17 disease-causing, 41 uncertain
- Progressive external ophthalmoplegia with mitochondrial DNA deletions genes and variants: POLG; 17 disease-causing, 64 uncertain
- Prothrombin deficiency genes and variants: F2; 17 disease-causing, 41 uncertain
- Diabetes insipidus, nephrogenic, autosomal genes and variants: AQP2; 16 disease-causing, 38 uncertain
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome genes and variants: FOXP3; 16 disease-causing, 137 uncertain
- Carnitine palmitoyltransferase II deficiency genes and variants: CPT2; 15 disease-causing, 265 uncertain
- Hereditary factor X deficiency disease genes and variants: F10; 15 disease-causing, 23 uncertain
- Brain-lung-thyroid syndrome genes and variants: NKX2-1; 14 disease-causing, 11 uncertain
- Factor V deficiency genes and variants: F5; 14 disease-causing, 203 uncertain
- Hypoparathyroidism, deafness, renal disease syndrome genes and variants: GATA3; 14 disease-causing, 57 uncertain
- Pseudohypoparathyroidism genes and variants: GNAS and PTH1R; 14 disease-causing, 11 uncertain
- Autosomal recessive hypophosphatemic bone disease genes and variants: SLC34A3; 13 disease-causing, 171 uncertain
- Combined immunodeficiency due to partial RAG1 deficiency genes and variants: RAG1; 13 disease-causing, 15 uncertain
- Factor XIII, A subunit, deficiency of genes and variants: F13A1; 13 disease-causing, 30 uncertain
- Familial gestational hyperthyroidism genes and variants: TSHR; 13 disease-causing, 9 uncertain
- Familial medullary thyroid carcinoma genes and variants: NTRK1 and RET; 13 disease-causing, 119 uncertain
- Inherited Immunodeficiency Diseases genes and variants: AIRE, CD19, CD79A, CTLA4 and 4 more; 13 disease-causing, 10 uncertain
- Myosin storage myopathy genes and variants: MYH7; 13 disease-causing, 102 uncertain
- 3-Methylglutaconic aciduria type 2 genes and variants: TAFAZZIN; 12 disease-causing, 105 uncertain
- Carnitine palmitoyl transferase II deficiency, myopathic form genes and variants: CPT2; 11 disease-causing, 64 uncertain
- Carnitine palmitoyl transferase II deficiency, severe infantile form genes and variants: CPT2; 11 disease-causing, 81 uncertain
- Fumarase deficiency genes and variants: FH; 11 disease-causing, 111 uncertain
- G6PD deficiency genes and variants: G6PD; 11 disease-causing, 4 uncertain
- Hyperthyroidism genes and variants: CTLA4, THRB, TPO and TSHR; 11 disease-causing, 3 uncertain
- Hypothyroidism, congenital, nongoitrous, 2 genes and variants: NKX2-5 and PAX8; 11 disease-causing, 31 uncertain
- Neonatal severe primary hyperparathyroidism genes and variants: CASR; 11 disease-causing, 45 uncertain
- Factor X deficiency genes and variants: F10; 10 disease-causing, 11 uncertain
- Familial type 3 hyperlipoproteinemia genes and variants: APOE; 10 disease-causing, 6 uncertain
- LCAT deficiency genes and variants: LCAT; 10 disease-causing, 4 uncertain
- Mitochondrial complex 2 deficiency, nuclear type 3 genes and variants: SDHB and SDHD; 10 disease-causing, 33 uncertain
- Aromatase deficiency genes and variants: CYP19A1; 9 disease-causing, 25 uncertain
- Carnitine acylcarnitine translocase deficiency genes and variants: SLC25A20; 9 disease-causing, 63 uncertain
- Carnitine palmitoyl transferase II deficiency, neonatal form genes and variants: CPT2; 9 disease-causing, 69 uncertain
- Early onset severe obesity genes and variants: MC4R; 9 disease-causing, 27 uncertain
- Hypophosphataemia or rickets genes and variants: ALPL and SLC34A3; 9 disease-causing, 4 uncertain
- Mitochondrial complex I deficiency genes and variants: ACAD9; 9 disease-causing, 0 uncertain
- Diabetes mellitus genes and variants: ABCC8, ACE, AGTR1, AKT2 and 19 more; 8 disease-causing, 5 uncertain
- Factor VII deficiency genes and variants: F7; 8 disease-causing, 9 uncertain
- Familial hypobetalipoproteinemia 1 genes and variants: ANGPTL3 and APOB; 8 disease-causing, 1,250 uncertain
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome genes and variants: ACADVL and GATA6; 8 disease-causing, 8 uncertain
- Recombinase activating gene 1 deficiency genes and variants: RAG1; 8 disease-causing, 17 uncertain
- Surfactant metabolism dysfunction, pulmonary, 1 genes and variants: ABCA3, SFTPB and SFTPC; 8 disease-causing, 44 uncertain
- Type 1 diabetes mellitus genes and variants: BACH2, CD3E, CTLA4, FOXP3 and 9 more; 8 disease-causing, 12 uncertain
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency genes and variants: POR; 7 disease-causing, 156 uncertain
- Dihydropyrimidine dehydrogenase deficiency genes and variants: DPYD; 7 disease-causing, 59 uncertain
- Hypothyroidism genes and variants: BACH2, CTLA4, FLT3, IL7R and 11 more; 7 disease-causing, 8 uncertain
- Insulin-resistant diabetes mellitus AND acanthosis nigricans genes and variants: INSR; 7 disease-causing, 30 uncertain
- Mitochondrial disease genes and variants: COQ8A, POLG and SPG7; 7 disease-causing, 5 uncertain
- Protein S deficiency disease genes and variants: PROS1; 7 disease-causing, 12 uncertain
- Pseudopseudohypoparathyroidism genes and variants: GNAS; 7 disease-causing, 12 uncertain
- X-linked lymphoproliferative disease due to SH2D1A deficiency genes and variants: SH2D1A; 7 disease-causing, 24 uncertain
- Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome genes and variants: KMT2D; 6 disease-causing, 354 uncertain
- Hypoalphalipoproteinemia, primary, 1 genes and variants: ABCA1 and APOA1; 6 disease-causing, 93 uncertain
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency genes and variants: IL12RB1; 6 disease-causing, 196 uncertain
- Myopathy, myosin storage, autosomal recessive genes and variants: MYH7; 6 disease-causing, 62 uncertain
- Obesity due to melanocortin 4 receptor deficiency genes and variants: MC4R and PCSK1; 6 disease-causing, 2 uncertain
- Obesity due to prohormone convertase I deficiency genes and variants: PCSK1; 6 disease-causing, 27 uncertain
- Severe combined immunodeficiency due to CARD11 deficiency genes and variants: CARD11; 6 disease-causing, 386 uncertain
- Ectodermal dysplasia and immunodeficiency 2 genes and variants: NFKBIA; 5 disease-causing, 121 uncertain
- Factor VIII deficiency genes and variants: F8; 5 disease-causing, 1 uncertain
- Familial hyperparathyroidism or Hypocalciuric hypercalcaemia genes and variants: CASR and RET; 5 disease-causing, 20 uncertain
- Hypophosphatemic rickets genes and variants: CLCN5; 5 disease-causing, 29 uncertain
- Immunodeficiency 11b with atopic dermatitis genes and variants: CARD11; 5 disease-causing, 19 uncertain
- Immunodeficiency, common variable, 10 genes and variants: CD19, ICOS, NFKB2, TNFRSF13B and 2 more; 5 disease-causing, 574 uncertain
- Leucine-induced hypoglycemia genes and variants: ABCC8; 5 disease-causing, 112 uncertain
- Possible mitochondrial disorder - nuclear genes genes and variants: ACAD9, POLG and SPG7; 5 disease-causing, 0 uncertain
- Selective pituitary resistance to thyroid hormone genes and variants: THRB; 5 disease-causing, 3 uncertain
- Thyroid adenoma, hyperfunctioning, somatic genes and variants: TSHR; 5 disease-causing, 0 uncertain
- Autoimmune thyroid disease, susceptibility to, 3 genes and variants: TG; 4 disease-causing, 15 uncertain
- Factor H deficiency genes and variants: CFH; 4 disease-causing, 15 uncertain
- Generalized resistance to thyroid hormone genes and variants: THRB; 4 disease-causing, 0 uncertain
- Likely inborn error of metabolism genes and variants: ALDH5A1, MMUT and OTC; 4 disease-causing, 2 uncertain
- Mitochondrial DNA maintenance disorder genes and variants: POLG and SPG7; 4 disease-causing, 2 uncertain
- Obesity due to congenital leptin deficiency genes and variants: LEP; 4 disease-causing, 5 uncertain
- Obesity, hyperphagia, and developmental delay genes and variants: NTRK2; 4 disease-causing, 21 uncertain
- Parathyroid carcinoma genes and variants: CDC73; 4 disease-causing, 427 uncertain
- Thyroid cancer, nonmedullary, 2 genes and variants: HRAS, NKX2-1 and PTEN; 4 disease-causing, 6 uncertain
- Thyroid hormone resistance syndrome genes and variants: THRB; 4 disease-causing, 0 uncertain
- Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome genes and variants: RYR2; 4 disease-causing, 30 uncertain
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete genes and variants: CYP17A1; 3 disease-causing, 0 uncertain
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation genes and variants: PLCG2; 3 disease-causing, 93 uncertain
- Classic dopamine transporter deficiency syndrome genes and variants: SLC6A3; 3 disease-causing, 14 uncertain
- Combined immunodeficiency due to LRBA deficiency genes and variants: LRBA; 3 disease-causing, 869 uncertain
- D-2-hydroxyglutaric aciduria genes and variants: IDH2; 3 disease-causing, 79 uncertain
- Factor XII deficiency disease genes and variants: F12; 3 disease-causing, 10 uncertain
- Growth hormone insensitivity syndrome with immune dysregulation genes and variants: STAT5B; 3 disease-causing, 13 uncertain
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive genes and variants: STAT5B; 3 disease-causing, 179 uncertain
- Hereditary thrombophilia due to congenital protein C deficiency genes and variants: F2 and PROC; 3 disease-causing, 0 uncertain
- Hypercholesterolemia, autosomal dominant, type B genes and variants: APOB; 3 disease-causing, 1,232 uncertain
- Immunodeficiency, developmental delay, and hypohomocysteinemia genes and variants: NFE2L2; 3 disease-causing, 14 uncertain
- X-linked lymphoproliferative disease due to XIAP deficiency genes and variants: XIAP; 3 disease-causing, 105 uncertain
- X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency genes and variants: CYBB; 3 disease-causing, 5 uncertain
- 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial genes and variants: CYP17A1; 2 disease-causing, 0 uncertain
- Acrodysostosis 1 with or without hormone resistance genes and variants: PRKAR1A; 2 disease-causing, 28 uncertain
- Autoinflammatory syndrome with immunodeficiency genes and variants: SOCS1; 2 disease-causing, 5 uncertain
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency genes and variants: CSF3R; 2 disease-causing, 303 uncertain
- Combined immunodeficiency genes and variants: IL2RG and BCL11B; 2 disease-causing, 2 uncertain
- Combined immunodeficiency due to MALT1 deficiency genes and variants: MALT1; 2 disease-causing, 139 uncertain
- Common variable immunodeficiency genes and variants: BTK, CD19, ICOS, NFKB1 and 3 more; 2 disease-causing, 3 uncertain
- Encephalopathy, porphyria-related genes and variants: HMBS; 2 disease-causing, 4 uncertain
- Familial hypoparathyroidism genes and variants: CASR and GNA11; 2 disease-causing, 3 uncertain
- Hyperinsulinism due to INSR deficiency genes and variants: INSR; 2 disease-causing, 15 uncertain
- Hypoparathyroidism, familial isolated 1 genes and variants: PTH; 2 disease-causing, 3 uncertain
- Immunodeficiency 98 with autoinflammation, X-linked genes and variants: TLR8; 2 disease-causing, 3 uncertain
- Immunodeficiency due to CD25 deficiency genes and variants: IL2RA; 2 disease-causing, 102 uncertain
- Leukoencephalopathy, porphyria-related genes and variants: HMBS; 2 disease-causing, 3 uncertain
- Lipoprotein glomerulopathy genes and variants: APOE; 2 disease-causing, 4 uncertain
- Methylmalonic aciduria and homocystinuria type cblD genes and variants: MMADHC; 2 disease-causing, 50 uncertain
- Microvascular complications of diabetes, susceptibility to, 3 genes and variants: ACE and HFE; 2 disease-causing, 187 uncertain
- Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) genes and variants: OPA1; 2 disease-causing, 2 uncertain
- Obesity due to leptin receptor gene deficiency genes and variants: LEPR; 2 disease-causing, 28 uncertain
- PIK3R1-related immunodeficiency and SHORT syndrome genes and variants: PIK3R1; 2 disease-causing, 12 uncertain
- Severe combined immunodeficiency due to LCK deficiency genes and variants: LCK; 2 disease-causing, 73 uncertain
- Apolipoprotein c-III deficiency genes and variants: APOC3; 1 disease-causing, 2 uncertain
- Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency genes and variants: DMD; 1 disease-causing, 74 uncertain
- Combined immunodeficiency due to DOCK8 deficiency genes and variants: DOCK8; 1 disease-causing, 742 uncertain
- Complement component 5 deficiency genes and variants: C5; 1 disease-causing, 50 uncertain
- Cortisone reductase deficiency 1 genes and variants: H6PD; 1 disease-causing, 6 uncertain
- Disorders of Intracellular Cobalamin Metabolism genes and variants: MMACHC and MMADHC; 1 disease-causing, 25 uncertain
- Factor XIII deficiency genes and variants: F13A1 and F13B; 1 disease-causing, 0 uncertain
- Factor XIII, b subunit, deficiency of genes and variants: F13B; 1 disease-causing, 30 uncertain
- Familial apolipoprotein C-II deficiency genes and variants: APOC2; 1 disease-causing, 11 uncertain
- Familial porphyria cutanea tarda genes and variants: HFE; 1 disease-causing, 2 uncertain
- GTP cyclohydrolase I deficiency with hyperphenylalaninemia genes and variants: GCH1; 1 disease-causing, 7 uncertain
- Hyperlipidemia due to hepatic triglyceride lipase deficiency genes and variants: LIPC; 1 disease-causing, 28 uncertain
- Hypoalphalipoproteinemia, primary, 2, intermediate genes and variants: APOA1; 1 disease-causing, 18 uncertain
- Hypoinsulinemic hypoglycemia and body hemihypertrophy genes and variants: AKT2; 1 disease-causing, 38 uncertain
- Immunoglobulin A deficiency 2 genes and variants: TNFRSF13B; 1 disease-causing, 11 uncertain
- Inherited MMR deficiency (Lynch syndrome) genes and variants: MSH6; 1 disease-causing, 7 uncertain
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency genes and variants: IRF8; 1 disease-causing, 164 uncertain
- Mitochondrial neurogastrointestinal encephalomyopathy genes and variants: POLG; 1 disease-causing, 0 uncertain
- Multiple mitochondrial dysfunctions syndrome 4 genes and variants: ISCA2; 1 disease-causing, 7 uncertain
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection genes and variants: STAT2; 1 disease-causing, 185 uncertain
- Severe combined immunodeficiency due to IKK2 deficiency genes and variants: IKBKB; 1 disease-causing, 210 uncertain
- Short stature due to partial GHR deficiency genes and variants: GHR; 1 disease-causing, 17 uncertain
- Specific granule deficiency genes and variants: CEBPE; 1 disease-causing, 89 uncertain
Kidneys & reproduction
- Renal carnitine transport defect genes and variants: SLC22A5; 79 disease-causing, 344 uncertain
- Finnish congenital nephrotic syndrome genes and variants: NPHS1 and NPHS2; 71 disease-causing, 212 uncertain
- Renal cysts and diabetes syndrome genes and variants: HNF1B and HNF4A; 71 disease-causing, 95 uncertain
- Polycystic kidney disease, adult type genes and variants: PKD1 and PKD2; 62 disease-causing, 1,129 uncertain
- Familial juvenile hyperuricemic nephropathy type 1 genes and variants: REN and UMOD; 56 disease-causing, 154 uncertain
- Hypogonadotropic hypogonadism 2 with or without anosmia genes and variants: FGFR1; 55 disease-causing, 320 uncertain
- Congenital adrenal hyperplasia genes and variants: CYP11B1, CYP17A1, CYP21A2, HSD3B2 and 1 more; 49 disease-causing, 9 uncertain
- Nephrotic syndrome genes and variants: NOS1AP, NPHS1, NPHS2, NR3C1 and 6 more; 42 disease-causing, 115 uncertain
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia genes and variants: CYP21A2; 37 disease-causing, 53 uncertain
- Hereditary leiomyomatosis and renal cell cancer genes and variants: FH; 34 disease-causing, 68 uncertain
- Perrault syndrome genes and variants: FBN1, HSD17B4 and CLDN14; 30 disease-causing, 194 uncertain
- Nephrogenic diabetes insipidus genes and variants: AQP2 and AVPR2; 26 disease-causing, 8 uncertain
- Diabetes insipidus, nephrogenic, X-linked genes and variants: AVPR2; 25 disease-causing, 36 uncertain
- Malignant tumor of urinary bladder genes and variants: FGFR3, HRAS, KRAS, CTNNB1 and 5 more; 19 disease-causing, 99 uncertain
- Familial renal glucosuria genes and variants: SLC5A2; 18 disease-causing, 139 uncertain
- Diabetes insipidus, nephrogenic, autosomal genes and variants: AQP2; 16 disease-causing, 38 uncertain
- Renal tubulopathies genes and variants: AVPR2, SLC12A3 and SLC4A1; 16 disease-causing, 8 uncertain
- Hypoparathyroidism, deafness, renal disease syndrome genes and variants: GATA3; 14 disease-causing, 57 uncertain
- Nephrolithiasis/nephrocalcinosis genes and variants: CASR and OCRL; 14 disease-causing, 619 uncertain
- Autosomal dominant polycystic kidney disease genes and variants: AVPR2, PKD1 and PKD2; 12 disease-causing, 389 uncertain
- Gonadotropin-independent familial sexual precocity genes and variants: LHCGR; 12 disease-causing, 8 uncertain
- Autosomal dominant distal renal tubular acidosis genes and variants: SLC4A1; 11 disease-causing, 49 uncertain
- Congenital bilateral aplasia of vas deferens from CFTR mutation genes and variants: CFTR; 10 disease-causing, 57 uncertain
- Steroid-resistant nephrotic syndrome genes and variants: NPHS2 and COL4A5; 9 disease-causing, 11 uncertain
- Nephronophthisis genes and variants: CEP290 and WDR19; 8 disease-causing, 769 uncertain
- Polycystic kidney disease genes and variants: PKD1, PKD2 and COL4A4; 8 disease-causing, 225 uncertain
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency genes and variants: POR; 7 disease-causing, 156 uncertain
- Hypogonadotropic hypogonadism 5 with or without anosmia genes and variants: CHD7; 7 disease-causing, 321 uncertain
- Male infertility genes and variants: AR; 7 disease-causing, 11 uncertain
- Male infertility with azoospermia or oligozoospermia due to single gene mutation genes and variants: AR, MAP2K1, PTPN11, SOS1 and 1 more; 7 disease-causing, 5 uncertain
- Nephrogenic syndrome of inappropriate antidiuresis genes and variants: AVPR2; 7 disease-causing, 23 uncertain
- Renal tubular acidosis with progressive nerve deafness genes and variants: ATP6V1B1; 7 disease-causing, 95 uncertain
- Polycystic liver disease 4 with or without kidney cysts genes and variants: LRP5; 6 disease-causing, 74 uncertain
- Branchiootorenal syndrome 1 genes and variants: EYA1; 5 disease-causing, 51 uncertain
- Idiopathic nephrotic syndrome genes and variants: NPHS2; 5 disease-causing, 0 uncertain
- Nonpapillary renal cell carcinoma genes and variants: FLCN, HNF1B and VHL; 5 disease-causing, 125 uncertain
- Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis genes and variants: CLCN5; 5 disease-causing, 21 uncertain
- Renal tubular dysgenesis genes and variants: ACE, AGTR1, REN and AGT; 5 disease-causing, 66 uncertain
- Kidney disorder genes and variants: AGTR1, APOL1, COL4A5, NPHS1 and 6 more; 4 disease-causing, 19 uncertain
- Renal cell carcinoma genes and variants: BRAF, CSF1R, CTLA4, EPAS1 and 14 more; 4 disease-causing, 1,741 uncertain
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia genes and variants: MUC1 and UMOD; 3 disease-causing, 4 uncertain
- C3 glomerulonephritis genes and variants: C3; 3 disease-causing, 46 uncertain
- Premature ovarian failure genes and variants: CHEK2, FMR1, NOS3 and XRCC2; 3 disease-causing, 29 uncertain
- Testicular anomalies with or without congenital heart disease genes and variants: GATA4; 3 disease-causing, 6 uncertain
- X-linked recessive nephrolithiasis with renal failure genes and variants: CLCN5; 3 disease-causing, 17 uncertain
- Autosomal dominant polycystic liver disease genes and variants: CTNNB1 and LRP5; 2 disease-causing, 3 uncertain
- Congenital anomaly of kidney and urinary tract genes and variants: PTPN11 and ETV4; 2 disease-causing, 7 uncertain
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome genes and variants: LMNA; 2 disease-causing, 44 uncertain
- Hypogonadotropic hypogonadism genes and variants: CHD7, FGFR1 and FSHR; 2 disease-causing, 6 uncertain
- Osteopetrosis with renal tubular acidosis genes and variants: CA2; 2 disease-causing, 33 uncertain
- Papillary renal cell carcinoma genes and variants: MET; 2 disease-causing, 69 uncertain
- Renal tubular dysgenesis of genetic origin genes and variants: ACE, AGTR1, REN and AGT; 2 disease-causing, 301 uncertain
- Chronic kidney disease genes and variants: AGTR1, APOL1, CASR, COL4A5 and 9 more; 1 disease-causing, 2 uncertain
- Genetic non-acquired premature ovarian failure genes and variants: FSHR and AMH; 1 disease-causing, 0 uncertain
- Hereditary papillary renal cell carcinoma genes and variants: MET; 1 disease-causing, 5 uncertain
- Pregnancy loss, recurrent, susceptibility to, 1 genes and variants: F2 and F5; 1 disease-causing, 12 uncertain
- Renal tubular acidosis genes and variants: SLC12A3; 1 disease-causing, 1 uncertain
- Renal tubular acidosis, distal, 4, with hemolytic anemia genes and variants: SLC4A1; 1 disease-causing, 14 uncertain
Immune system
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive genes and variants: JAK3, RAG1 and RAG2; 84 disease-causing, 412 uncertain
- Combined immunodeficiency with skin granulomas genes and variants: RAG1 and RAG2; 82 disease-causing, 391 uncertain
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome genes and variants: STAT1; 47 disease-causing, 157 uncertain
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency genes and variants: ADA; 44 disease-causing, 118 uncertain
- Polyglandular autoimmune syndrome, type 1 genes and variants: AIRE; 37 disease-causing, 314 uncertain
- Severe combined immunodeficiency disease genes and variants: ADA, DOCK8, IL7R, JAK3 and 2 more; 35 disease-causing, 3 uncertain
- X-linked severe combined immunodeficiency genes and variants: IL2RG; 30 disease-causing, 88 uncertain
- Autoimmune lymphoproliferative syndrome genes and variants: CASP8, FAS, KRAS and NRAS; 28 disease-causing, 279 uncertain
- T-B+ severe combined immunodeficiency due to JAK3 deficiency genes and variants: IL7R, JAK3 and PTPRC; 22 disease-causing, 256 uncertain
- STAT3-related early-onset multisystem autoimmune disease genes and variants: STAT3; 21 disease-causing, 7 uncertain
- TNF receptor-associated periodic fever syndrome (TRAPS) genes and variants: TNFRSF1A; 21 disease-causing, 168 uncertain
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency genes and variants: CTLA4 and KCNH2; 14 disease-causing, 100 uncertain
- Autoinflammatory syndrome genes and variants: MEFV, NLRP3, SH2D1A, TNFRSF1A and 6 more; 13 disease-causing, 178 uncertain
- Combined immunodeficiency due to partial RAG1 deficiency genes and variants: RAG1; 13 disease-causing, 15 uncertain
- Inherited Immunodeficiency Diseases genes and variants: AIRE, CD19, CD79A, CTLA4 and 4 more; 13 disease-causing, 10 uncertain
- Severe combined immunodeficiency due to CARD11 deficiency genes and variants: CARD11; 6 disease-causing, 386 uncertain
- Ectodermal dysplasia and immunodeficiency 2 genes and variants: NFKBIA; 5 disease-causing, 121 uncertain
- Immunodeficiency 11b with atopic dermatitis genes and variants: CARD11; 5 disease-causing, 19 uncertain
- Immunodeficiency, common variable, 10 genes and variants: CD19, ICOS, NFKB2, TNFRSF13B and 2 more; 5 disease-causing, 574 uncertain
- Autoimmune thyroid disease, susceptibility to, 3 genes and variants: TG; 4 disease-causing, 15 uncertain
- Familial cold autoinflammatory syndrome 3 genes and variants: NLRP3 and PLCG2; 4 disease-causing, 598 uncertain
- Non-immune hydrops fetalis genes and variants: HRAS, PIEZO1 and PTPN11; 4 disease-causing, 3 uncertain
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation genes and variants: PLCG2; 3 disease-causing, 93 uncertain
- Combined immunodeficiency due to LRBA deficiency genes and variants: LRBA; 3 disease-causing, 869 uncertain
- Growth hormone insensitivity syndrome with immune dysregulation genes and variants: STAT5B; 3 disease-causing, 13 uncertain
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive genes and variants: STAT5B; 3 disease-causing, 179 uncertain
- Immunodeficiency, developmental delay, and hypohomocysteinemia genes and variants: NFE2L2; 3 disease-causing, 14 uncertain
- Systemic lupus erythematosus genes and variants: CTLA4, IFNAR1, IL10, NCF2 and 8 more; 3 disease-causing, 12 uncertain
- Autoinflammatory syndrome with immunodeficiency genes and variants: SOCS1; 2 disease-causing, 5 uncertain
- Chilblain lupus genes and variants: TREX1; 2 disease-causing, 240 uncertain
- Combined immunodeficiency genes and variants: IL2RG and BCL11B; 2 disease-causing, 2 uncertain
- Combined immunodeficiency due to MALT1 deficiency genes and variants: MALT1; 2 disease-causing, 139 uncertain
- Common variable immunodeficiency genes and variants: BTK, CD19, ICOS, NFKB1 and 3 more; 2 disease-causing, 3 uncertain
- Immunodeficiency 98 with autoinflammation, X-linked genes and variants: TLR8; 2 disease-causing, 3 uncertain
- Immunodeficiency due to CD25 deficiency genes and variants: IL2RA; 2 disease-causing, 102 uncertain
- PIK3R1-related immunodeficiency and SHORT syndrome genes and variants: PIK3R1; 2 disease-causing, 12 uncertain
- Severe combined immunodeficiency due to LCK deficiency genes and variants: LCK; 2 disease-causing, 73 uncertain
- Autoinflammation with arthritis and dyskeratosis genes and variants: NLRP1; 1 disease-causing, 12 uncertain
- Autoinflammation, immune dysregulation, and eosinophilia genes and variants: JAK1; 1 disease-causing, 14 uncertain
- Combined immunodeficiency due to DOCK8 deficiency genes and variants: DOCK8; 1 disease-causing, 742 uncertain
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection genes and variants: STAT2; 1 disease-causing, 185 uncertain
- Severe combined immunodeficiency due to IKK2 deficiency genes and variants: IKBKB; 1 disease-causing, 210 uncertain
Response to medicines
- Ivacaftor response - Efficacy genes and variants: CFTR; 4 disease-causing, 0 uncertain
- Warfarin response genes and variants: CYP2C9 and VKORC1; 4 disease-causing, 1 uncertain
Other conditions
- Early-infantile DEE genes and variants: CACNA2D2, HCN1, KCNQ2, SCN1A and 2 more; 770 disease-causing, 2,333 uncertain
- X-linked Alport syndrome genes and variants: COL4A5; 341 disease-causing, 178 uncertain
- Fabry disease genes and variants: GLA; 320 disease-causing, 261 uncertain
- Hereditary spastic paraplegia genes and variants: ATL1, FGG, GNAS, KIF1A and 8 more; 308 disease-causing, 1,289 uncertain
- RASopathy genes and variants: BRAF, CBL, HRAS, KRAS and 9 more; 212 disease-causing, 2,492 uncertain
- Alport syndrome genes and variants: COL4A3, COL4A4 and COL4A5; 199 disease-causing, 315 uncertain
- Mucopolysaccharidosis, MPS-II genes and variants: IDS; 193 disease-causing, 139 uncertain
- Leber congenital amaurosis genes and variants: ABCA4, ALMS1, CEP290, CRB1 and 2 more; 183 disease-causing, 947 uncertain
- Telangiectasia, hereditary hemorrhagic, type 2 genes and variants: ACVRL1 and PSEN1; 179 disease-causing, 154 uncertain
- Niemann-Pick disease, type C1 genes and variants: NPC1; 175 disease-causing, 469 uncertain
- Noonan syndrome genes and variants: ARAF, BRAF, CBL, FGA and 21 more; 164 disease-causing, 980 uncertain
- Von Hippel-Lindau syndrome genes and variants: VHL; 147 disease-causing, 457 uncertain
- Amyotrophic lateral sclerosis genes and variants: C9ORF72, ERBB4, FUS, HNRNPA1 and 15 more; 145 disease-causing, 1,039 uncertain
- Autosomal dominant Alport syndrome genes and variants: COL4A3, COL4A4 and COL4A5; 138 disease-causing, 261 uncertain
- Gaucher disease genes and variants: GBA1; 132 disease-causing, 62 uncertain
- Autosomal recessive Alport syndrome genes and variants: COL4A3 and COL4A4; 131 disease-causing, 344 uncertain
- Niemann-Pick disease, type A genes and variants: NPC1 and SMPD1; 130 disease-causing, 158 uncertain
- Familial hypokalemia-hypomagnesemia genes and variants: IDUA and SLC12A3; 116 disease-causing, 227 uncertain
- Niemann-Pick disease, type B genes and variants: SMPD1; 113 disease-causing, 130 uncertain
- Von Willebrand disease genes and variants: VWF; 112 disease-causing, 182 uncertain
- Hematuria, benign familial genes and variants: COL4A3 and COL4A4; 110 disease-causing, 352 uncertain
- Tubulinopathy genes and variants: TUBA1A and TUBB2B; 103 disease-causing, 7 uncertain
- Amyloidosis, hereditary systemic 1 genes and variants: B2M and TTR; 102 disease-causing, 83 uncertain
- Rett syndrome genes and variants: CDKL5, FOXG1 and MECP2; 93 disease-causing, 82 uncertain
- Androgen resistance syndrome genes and variants: AR; 85 disease-causing, 80 uncertain
- Familial hypocalciuric hypercalcemia genes and variants: CASR and GNA11; 85 disease-causing, 1,188 uncertain
- Landau-Kleffner syndrome genes and variants: GRIN2A; 85 disease-causing, 639 uncertain
- Loeys-Dietz syndrome genes and variants: ABCA3, SMAD2, SMAD3, TGFB2 and 2 more; 83 disease-causing, 499 uncertain
- Sotos syndrome genes and variants: NSD1 and SCN4A; 83 disease-causing, 288 uncertain
- Mucopolysaccharidosis genes and variants: IDS and IDUA; 80 disease-causing, 299 uncertain
- Progressive sclerosing poliodystrophy genes and variants: POLG; 77 disease-causing, 1,009 uncertain
- Autosomal dominant hypocalcemia genes and variants: CASR and GNA11; 75 disease-causing, 1,163 uncertain
- Tuberous sclerosis genes and variants: TSC1, TSC2 and SERPINC1; 75 disease-causing, 3,749 uncertain
- Pheochromocytoma genes and variants: MAX, RET, SDHB, SDHD and 2 more; 71 disease-causing, 918 uncertain
- FOXG1 disorder genes and variants: FOXG1; 70 disease-causing, 124 uncertain
- Noonan syndrome and Noonan-related syndrome genes and variants: BRAF, CBL, HRAS, KRAS and 8 more; 70 disease-causing, 97 uncertain
- Citrullinemia genes and variants: ASS1; 69 disease-causing, 128 uncertain
- Autosomal recessive inherited pseudoxanthoma elasticum genes and variants: ABCC6; 67 disease-causing, 294 uncertain
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant genes and variants: IL6R, STAT3 and DOCK8; 65 disease-causing, 266 uncertain
- Autosomal recessive congenital ichthyosis genes and variants: TGM1; 64 disease-causing, 93 uncertain
- Epidermolysis bullosa dystrophica genes and variants: COL7A1; 64 disease-causing, 81 uncertain
- Lissencephaly due to TUBA1A mutation genes and variants: TUBA1A; 62 disease-causing, 37 uncertain
- Aniridia genes and variants: PAX6; 60 disease-causing, 97 uncertain
- Niemann-Pick disease, type C genes and variants: NPC1; 60 disease-causing, 10 uncertain
- Acne inversa, familial, 3 genes and variants: NCSTN and PSEN1; 58 disease-causing, 54 uncertain
- Neurofibromatosis genes and variants: MAP2K1, MAP2K2, NF1 and NF2; 57 disease-causing, 1,467 uncertain
- Recessive dystrophic epidermolysis bullosa genes and variants: COL7A1; 53 disease-causing, 58 uncertain
- Rubinstein-Taybi syndrome due to CREBBP mutations genes and variants: CREBBP and EP300; 53 disease-causing, 255 uncertain
- Pelizaeus-Merzbacher disease genes and variants: PLP1; 51 disease-causing, 26 uncertain
- Nicolaides-Baraitser syndrome genes and variants: SMARCA2; 50 disease-causing, 57 uncertain
- STAT3 gain of function genes and variants: STAT3; 49 disease-causing, 167 uncertain
- Bardet-Biedl syndrome genes and variants: ALMS1, BBS1, BBS2, BBS4 and 2 more; 48 disease-causing, 1,064 uncertain
- Kabuki syndrome genes and variants: KDM6A and KMT2D; 48 disease-causing, 1,958 uncertain
- Kennedy disease genes and variants: AR; 46 disease-causing, 70 uncertain
- Stargardt disease genes and variants: ABCA4 and PRPH2; 45 disease-causing, 24 uncertain
- Cone-rod dystrophy genes and variants: ABCA4, CRB1, CREBBP, CRX and 3 more; 44 disease-causing, 173 uncertain
- Alexander disease genes and variants: GFAP; 42 disease-causing, 37 uncertain
- CHARGE syndrome genes and variants: CHD7; 42 disease-causing, 1,114 uncertain
- Hemochromatosis genes and variants: HFE and SLC40A1; 42 disease-causing, 88 uncertain
- Angelman syndrome-like genes and variants: CDKL5; 41 disease-causing, 154 uncertain
- Cobalamin C disease genes and variants: MMACHC and MMADHC; 41 disease-causing, 102 uncertain
- Irido-corneo-trabecular dysgenesis genes and variants: PAX6; 40 disease-causing, 94 uncertain
- Hyper-IgM syndrome genes and variants: AICDA, CD40, CD40LG and UNG; 38 disease-causing, 231 uncertain
- Galactosemia genes and variants: GALT; 36 disease-causing, 14 uncertain
- Granulomatous disease, chronic, X-linked genes and variants: CYBB; 36 disease-causing, 99 uncertain
- Waardenburg syndrome genes and variants: EDNRB, MITF and SOX10; 36 disease-causing, 272 uncertain
- Achondrogenesis type II genes and variants: COL2A1; 34 disease-causing, 13 uncertain
- Andersen Tawil syndrome genes and variants: KCNJ2; 34 disease-causing, 191 uncertain
- Benign familial hematuria genes and variants: COL4A3 and COL4A4; 34 disease-causing, 69 uncertain
- Pachyonychia congenita genes and variants: KRT10, KRT16, KRT17, KRT6A and 1 more; 34 disease-causing, 14 uncertain
- CDKL5 disorder genes and variants: CDKL5; 32 disease-causing, 34 uncertain
- Tatton-Brown-Rahman overgrowth syndrome genes and variants: DNMT3A; 32 disease-causing, 176 uncertain
- Upshaw-Schulman syndrome genes and variants: ADAMTS13; 32 disease-causing, 191 uncertain
- Pfeiffer syndrome genes and variants: FGFR1 and FGFR2; 31 disease-causing, 266 uncertain
- Pick disease genes and variants: MAPT and PSEN1; 31 disease-causing, 65 uncertain
- Alternating hemiplegia of childhood genes and variants: ATP1A2 and ATP1A3; 30 disease-causing, 39 uncertain
- Bartter disease type 1 genes and variants: CLCNKB and SLC12A1; 30 disease-causing, 248 uncertain
- Glucose-6-phosphate transport defect genes and variants: SLC37A4; 30 disease-causing, 312 uncertain
- PIK3CA related overgrowth syndrome genes and variants: PIK3CA; 30 disease-causing, 4 uncertain
- Wiskott-Aldrich syndrome genes and variants: WAS and WRN; 28 disease-causing, 149 uncertain
- Gorlin syndrome genes and variants: PTCH1 and SUFU; 27 disease-causing, 2,357 uncertain
- Generalized dominant dystrophic epidermolysis bullosa genes and variants: COL7A1; 26 disease-causing, 6 uncertain
- Hereditary von Willebrand disease genes and variants: VWF; 26 disease-causing, 50 uncertain
- Stickler syndrome genes and variants: COL2A1; 26 disease-causing, 52 uncertain
- Wiedemann-Steiner syndrome genes and variants: KMT2A and CHD7; 26 disease-causing, 105 uncertain
- Arterial calcification, generalized, of infancy, 2 genes and variants: ABCC6; 25 disease-causing, 227 uncertain
- Dent disease genes and variants: CLCN5 and OCRL; 25 disease-causing, 77 uncertain
- Ectopic tissue genes and variants: DCX; 25 disease-causing, 7 uncertain
- Histiocytic medullary reticulosis genes and variants: RAG1 and RAG2; 25 disease-causing, 68 uncertain
- Dyskeratosis congenita genes and variants: NPM1, POT1 and TERT; 24 disease-causing, 1,380 uncertain
- Epidermolysis bullosa simplex genes and variants: KRT14 and KRT5; 24 disease-causing, 13 uncertain
- Lamellar ichthyosis genes and variants: TGM1; 24 disease-causing, 0 uncertain
- Peutz-Jeghers syndrome genes and variants: STK11; 24 disease-causing, 729 uncertain
- Primary ciliary dyskinesia genes and variants: DNAH5, RPGR and NFKB1; 24 disease-causing, 1,200 uncertain
- Lissencephaly type 1 due to doublecortin gene mutation genes and variants: DCX; 23 disease-causing, 13 uncertain
- Megalencephaly-capillary malformation-polymicrogyria syndrome genes and variants: PIK3CA and RIT1; 23 disease-causing, 4 uncertain
- Autosomal recessive bestrophinopathy genes and variants: BEST1; 22 disease-causing, 9 uncertain
- Crouzon syndrome genes and variants: FGFR2; 22 disease-causing, 45 uncertain
- Differences in sex development genes and variants: AMH, AR, CYP11B1, CYP17A1 and 4 more; 22 disease-causing, 9 uncertain
- LEOPARD syndrome 1 genes and variants: BRAF, PTPN11 and RAF1; 22 disease-causing, 66 uncertain
- Neuronal ceroid lipofuscinosis genes and variants: CLN3 and GRN; 22 disease-causing, 496 uncertain
- X-linked severe congenital neutropenia genes and variants: WAS; 22 disease-causing, 148 uncertain
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 genes and variants: AKT3, CCND2 and PIK3R2; 21 disease-causing, 51 uncertain
- Pseudoxanthoma elasticum, forme fruste genes and variants: ABCC6; 21 disease-causing, 216 uncertain
- Carney-Stratakis syndrome genes and variants: SDHB, SDHC and SDHD; 20 disease-causing, 194 uncertain
- Glucocorticoid-remediable aldosteronism genes and variants: CYP11B1; 20 disease-causing, 95 uncertain
- Hereditary fructosuria genes and variants: ALDOB; 19 disease-causing, 60 uncertain
- Menke-Hennekam syndrome genes and variants: CREBBP and EP300; 19 disease-causing, 210 uncertain
- Neural tube defects, folate-sensitive genes and variants: MTHFR; 19 disease-causing, 15 uncertain
- Lowe syndrome genes and variants: OCRL; 17 disease-causing, 140 uncertain
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency genes and variants: EP300; 17 disease-causing, 404 uncertain
- Coffin-Siris syndrome genes and variants: ARID1A, ARID1B, ARID2, SMARCA4 and 2 more; 16 disease-causing, 182 uncertain
- Hirschsprung disease genes and variants: EDNRB and RET; 16 disease-causing, 260 uncertain
- Hurler syndrome genes and variants: IDUA; 16 disease-causing, 25 uncertain
- Myofibromatosis, infantile, 2 genes and variants: NOTCH3 and PDGFRB; 16 disease-causing, 31 uncertain
- Xeroderma pigmentosum genes and variants: ERCC2, ERCC4, ERCC5, XPA and 1 more; 16 disease-causing, 65 uncertain
- Costello syndrome genes and variants: ARAF, BRAF, FGA, FGB and 11 more; 15 disease-causing, 210 uncertain
- Cryopyrin associated periodic syndrome genes and variants: IL1B and NLRP3; 15 disease-causing, 2 uncertain
- Hypochondroplasia genes and variants: FGFR3; 15 disease-causing, 11 uncertain
- Mutilating keratoderma genes and variants: GJB2; 15 disease-causing, 11 uncertain
- Rubinstein-Taybi syndrome genes and variants: CREBBP and EP300; 15 disease-causing, 450 uncertain
- Vitamin D-dependent rickets type II with alopecia genes and variants: VDR; 15 disease-causing, 76 uncertain
- Angelman syndrome genes and variants: CDKL5, MECP2 and UBE3A; 14 disease-causing, 32 uncertain
- Chronic progressive multiple sclerosis genes and variants: HNRNPA1; 14 disease-causing, 0 uncertain
- Crigler-Najjar syndrome genes and variants: UGT1A1; 14 disease-causing, 38 uncertain
- Dyskinesia with orofacial involvement genes and variants: ADCY5; 14 disease-causing, 27 uncertain
- Familial dysfibrinogenemia genes and variants: FGA, FGB and FGG; 14 disease-causing, 67 uncertain
- Houge-Janssens syndrome 1 genes and variants: PPP2R5D; 14 disease-causing, 29 uncertain
- Leprechaunism syndrome genes and variants: INSR; 14 disease-causing, 31 uncertain
- Oto-palato-digital syndrome, type II genes and variants: FLNA; 14 disease-causing, 613 uncertain
- Anophthalmia/microphthalmia-esophageal atresia syndrome genes and variants: SOX2; 13 disease-causing, 31 uncertain
- Branchiootic syndrome genes and variants: EYA1 and SIX1; 13 disease-causing, 109 uncertain
- Hartsfield-Bixler-Demyer syndrome genes and variants: FGFR1; 13 disease-causing, 42 uncertain
- Holt-Oram syndrome genes and variants: TBX5; 13 disease-causing, 26 uncertain
- Huntington disease-like 1 genes and variants: PRNP; 13 disease-causing, 36 uncertain
- Junctional epidermolysis bullosa with pyloric atresia genes and variants: ITGA6 and ITGB4; 13 disease-causing, 286 uncertain
- West syndrome genes and variants: KCNQ2, TUBA1A and SCN2A; 13 disease-causing, 2 uncertain
- Arterial tortuosity syndrome genes and variants: SLC2A10; 12 disease-causing, 170 uncertain
- Blau syndrome genes and variants: NOD2; 12 disease-causing, 141 uncertain
- Borjeson-Forssman-Lehmann syndrome genes and variants: PHF6; 12 disease-causing, 35 uncertain
- EAST syndrome genes and variants: KCNJ10; 12 disease-causing, 159 uncertain
- Enhanced S-cone syndrome genes and variants: NR2E3; 12 disease-causing, 44 uncertain
- Epidermolytic palmoplantar keratoderma, 1 genes and variants: KRT1, KRT10 and KRT9; 12 disease-causing, 7 uncertain
- Larsen syndrome genes and variants: FLNB; 12 disease-causing, 25 uncertain
- Lateral meningocele syndrome genes and variants: NOTCH3; 12 disease-causing, 27 uncertain
- Monocytopenia with susceptibility to infections genes and variants: GATA2; 12 disease-causing, 583 uncertain
- Reduced protein C activity genes and variants: PROC; 12 disease-causing, 9 uncertain
- SLC35A2-congenital disorder of glycosylation genes and variants: SLC35A2; 12 disease-causing, 84 uncertain
- Von Willebrand disorder genes and variants: VWF; 12 disease-causing, 3 uncertain
- Weaver syndrome genes and variants: EZH1, EZH2 and NSD1; 12 disease-causing, 65 uncertain
- Birt-Hogg-Dube syndrome genes and variants: FLCN; 11 disease-causing, 798 uncertain
- Corneal dystrophy, Meesmann, 2 genes and variants: KRT3 and KRT12; 11 disease-causing, 6 uncertain
- Epidermolytic hyperkeratosis 2A, autosomal dominant genes and variants: KRT1 and KRT10; 11 disease-causing, 2 uncertain
- Fetal anomalies with a likely genetic cause genes and variants: CDC42, COL1A1, COL2A1, COL6A3 and 6 more; 11 disease-causing, 6 uncertain
- Metachondromatosis genes and variants: PTPN11; 11 disease-causing, 28 uncertain
- Xeroderma pigmentosum, group D genes and variants: ERCC2; 11 disease-causing, 56 uncertain
- Corpus callosum, agenesis of genes and variants: CDH2 and DCC; 10 disease-causing, 3 uncertain
- Fanconi-Bickel syndrome genes and variants: SLC2A2; 10 disease-causing, 82 uncertain
- Gilbert syndrome genes and variants: UGT1A1; 10 disease-causing, 28 uncertain
- Inborn error of immunity genes and variants: MYD88, PGR and RAG2; 10 disease-causing, 5 uncertain
- Kugelberg-Welander disease genes and variants: SMN1; 10 disease-causing, 3 uncertain
- Leydig cell agenesis genes and variants: LHCGR; 10 disease-causing, 13 uncertain
- Transient bullous dermolysis of the newborn genes and variants: COL7A1; 10 disease-causing, 16 uncertain
- Achondroplasia genes and variants: FGFR3; 9 disease-causing, 17 uncertain
- Afibrinogenemia genes and variants: FGA, FGB and FGG; 9 disease-causing, 108 uncertain
- Bloom syndrome genes and variants: BLM; 9 disease-causing, 1,736 uncertain
- Cenani-Lenz syndactyly syndrome genes and variants: LRP4; 9 disease-causing, 494 uncertain
- Cryohydrocytosis genes and variants: SLC4A1; 9 disease-causing, 24 uncertain
- Epidermolysis bullosa simplex 1A, generalized severe genes and variants: COL7A1, KRT14 and KRT5; 9 disease-causing, 3 uncertain
- Episodic kinesigenic dyskinesia genes and variants: KCNA1 and PRRT2; 9 disease-causing, 244 uncertain
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 genes and variants: NCF1, NCF2 and NCF4; 9 disease-causing, 240 uncertain
- Junctional epidermolysis bullosa genes and variants: COL17A1, ITGB4, LAMA3, LAMB3 and 1 more; 9 disease-causing, 100 uncertain
- Pilomatrixoma genes and variants: CTNNB1 and MUTYH; 9 disease-causing, 4 uncertain
- Progressive myositis ossificans genes and variants: ACVR1; 9 disease-causing, 3 uncertain
- Regional enteritis genes and variants: NOD2; 9 disease-causing, 131 uncertain
- Schinzel-Giedion syndrome genes and variants: SETBP1; 9 disease-causing, 25 uncertain
- Senior-Loken syndrome genes and variants: CEP290 and WDR19; 9 disease-causing, 522 uncertain
- Worth disease genes and variants: LRP5; 9 disease-causing, 152 uncertain
- BENTA disease genes and variants: CARD11; 8 disease-causing, 388 uncertain
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 genes and variants: MC4R and PCSK1; 8 disease-causing, 22 uncertain
- Carpal tunnel syndrome genes and variants: SERPINA1 and TTR; 8 disease-causing, 21 uncertain
- CHD7-related CHARGE syndrome genes and variants: CHD7; 8 disease-causing, 7 uncertain
- Cohen-Gibson syndrome genes and variants: EED; 8 disease-causing, 16 uncertain
- Congenital disorder of glycosylation, type IIw genes and variants: SLC35A2, SLC37A4 and CACNA1D; 8 disease-causing, 38 uncertain
- Epidermolysis bullosa simplex, Koebner type genes and variants: KRT14 and KRT5; 8 disease-causing, 0 uncertain
- FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED genes and variants: TARDBP; 8 disease-causing, 7 uncertain
- Gerstmann-Straussler-Scheinker syndrome genes and variants: PRNP; 8 disease-causing, 1 uncertain
- Ichthyosis bullosa of Siemens genes and variants: KRT2; 8 disease-causing, 12 uncertain
- Infantile myofibromatosis genes and variants: PDGFRB; 8 disease-causing, 95 uncertain
- Iodotyrosyl coupling defect genes and variants: TG; 8 disease-causing, 158 uncertain
- Jackson-Weiss syndrome genes and variants: FGFR1, FGFR2 and SOX2; 8 disease-causing, 37 uncertain
- Melnick-Needles syndrome genes and variants: FLNA; 8 disease-causing, 727 uncertain
- Monogenic short statue genes and variants: PTPN11, SOS1, ACAN and GHR; 8 disease-causing, 18 uncertain
- Piebaldism genes and variants: KIT; 8 disease-causing, 43 uncertain
- Rabson-Mendenhall syndrome genes and variants: INSR; 8 disease-causing, 41 uncertain
- Sitosterolemia genes and variants: ABCG5 and ABCG8; 8 disease-causing, 304 uncertain
- X-linked hydrocephalus syndrome genes and variants: L1CAM; 8 disease-causing, 16 uncertain
- Annular epidermolytic ichthyosis genes and variants: KRT1 and KRT10; 7 disease-causing, 0 uncertain
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis genes and variants: POR; 7 disease-causing, 15 uncertain
- Asphyxiating thoracic dystrophy 5 genes and variants: WDR19; 7 disease-causing, 411 uncertain
- Beckwith-Wiedemann syndrome genes and variants: CDKN1C, KCNQ1 and NSD1; 7 disease-causing, 152 uncertain
- CEP290-related ciliopathy genes and variants: CEP290; 7 disease-causing, 12 uncertain
- Dubin-Johnson syndrome genes and variants: ABCC2; 7 disease-causing, 71 uncertain
- Epidermolysis bullosa simplex 1C, localized genes and variants: KRT14 and KRT5; 7 disease-causing, 2 uncertain
- Feingold syndrome genes and variants: MYCN; 7 disease-causing, 51 uncertain
- Fetal akinesia deformation sequence genes and variants: MUSK, RYR1, SCN4A and SCN8A; 7 disease-causing, 235 uncertain
- Joubert syndrome genes and variants: CEP290, CHD7 and SUFU; 7 disease-causing, 850 uncertain
- Juvenile neuronal ceroid lipofuscinosis genes and variants: CLN3; 7 disease-causing, 4 uncertain
- L1 syndrome genes and variants: L1CAM; 7 disease-causing, 0 uncertain
- Laron-type isolated somatotropin defect genes and variants: GHR; 7 disease-causing, 32 uncertain
- Meier-Gorlin syndrome genes and variants: ORC1 and MCM5; 7 disease-causing, 33 uncertain
- Motor neuron disease genes and variants: SOD1, TARDBP and TBK1; 7 disease-causing, 9 uncertain
- NK-cell enteropathy genes and variants: AURKB, AXL, CUL3, ERBB4 and 2 more; 7 disease-causing, 0 uncertain
- Norum disease genes and variants: LCAT; 7 disease-causing, 44 uncertain
- Partial androgen insensitivity syndrome genes and variants: AR; 7 disease-causing, 7 uncertain
- Phosphate transport defect genes and variants: SLC37A4; 7 disease-causing, 43 uncertain
- Pretibial dystrophic epidermolysis bullosa genes and variants: COL7A1; 7 disease-causing, 24 uncertain
- Pseudohypoaldosteronism type 2E genes and variants: CUL3; 7 disease-causing, 24 uncertain
- SMARCA2-related BAFopathy genes and variants: SMARCA2; 7 disease-causing, 2 uncertain
- Stickler syndrome, type I, nonsyndromic ocular genes and variants: COL2A1; 7 disease-causing, 7 uncertain
- Werner syndrome genes and variants: WRN; 7 disease-causing, 1,671 uncertain
- Acrocephalosyndactyly type I genes and variants: FGFR2; 6 disease-causing, 17 uncertain
- Alagille syndrome due to a NOTCH2 point mutation genes and variants: NOTCH2; 6 disease-causing, 231 uncertain
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis genes and variants: FGFR2 and POR; 6 disease-causing, 36 uncertain
- Baller-Gerold syndrome genes and variants: RECQL4; 6 disease-causing, 2,185 uncertain
- CEBALID syndrome genes and variants: MTOR; 6 disease-causing, 0 uncertain
- Chédiak-Higashi syndrome genes and variants: LYST; 6 disease-causing, 1,340 uncertain
- Danon disease genes and variants: LAMP2; 6 disease-causing, 175 uncertain
- Disorder of sexual differentiation genes and variants: AR, CACNA1A and HSD17B3; 6 disease-causing, 2 uncertain
- Ectopia lentis 1, isolated, autosomal dominant genes and variants: FBN1; 6 disease-causing, 36 uncertain
- Elliptocytosis 2 genes and variants: SPTA1 and SPTB; 6 disease-causing, 121 uncertain
- Enchondromatosis genes and variants: HIF1A and IDH1; 6 disease-causing, 5 uncertain
- Familial Mediterranean fever genes and variants: IL1B, MEFV, TUBA1A, TUBB2B and 1 more; 6 disease-causing, 424 uncertain
- Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement genes and variants: TUBB3; 6 disease-causing, 4 uncertain
- Frasier syndrome genes and variants: WT1; 6 disease-causing, 0 uncertain
- Glucocorticoid resistance genes and variants: NR3C1; 6 disease-causing, 58 uncertain
- Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections genes and variants: STAT3 and STAT6; 6 disease-causing, 0 uncertain
- Hyperproinsulinemia genes and variants: INS; 6 disease-causing, 4 uncertain
- Ichthyosis and erythrokeratoderma genes and variants: GJB2, KRT10, KRT16 and TGM1; 6 disease-causing, 0 uncertain
- Legg-Calve-Perthes disease genes and variants: COL2A1; 6 disease-causing, 5 uncertain
- MASA syndrome genes and variants: L1CAM; 6 disease-causing, 18 uncertain
- Mucopolysaccharidosis, MPS-I-S genes and variants: IDUA; 6 disease-causing, 16 uncertain
- Multisystemic smooth muscle dysfunction syndrome genes and variants: ACTA2; 6 disease-causing, 8 uncertain
- Paediatric disorders genes and variants: ALPL, CHD8, COL2A1, DNMT3A and 2 more; 6 disease-causing, 19 uncertain
- Palmoplantar keratoderma, nonepidermolytic, focal 1 genes and variants: KRT16; 6 disease-causing, 4 uncertain
- Schwartz-Jampel syndrome genes and variants: HSPG2; 6 disease-causing, 205 uncertain
- Semidominant ALPL-related disorders genes and variants: ALPL; 6 disease-causing, 1 uncertain
- Supranuclear palsy, progressive, 1 genes and variants: MAPT; 6 disease-causing, 3 uncertain
- Tubulinopathy-associated dysgyria genes and variants: TUBA1A; 6 disease-causing, 3 uncertain
- Warfarin sensitivity, X-linked genes and variants: F9; 6 disease-causing, 0 uncertain
- Werdnig-Hoffmann disease genes and variants: SMN1; 6 disease-causing, 2 uncertain
- 11p partial monosomy syndrome genes and variants: WT1; 5 disease-causing, 3 uncertain
- Amelogenesis imperfecta genes and variants: COL17A1, LAMB3 and PRKAR1A; 5 disease-causing, 17 uncertain
- Autosomal dominant epidermolytic ichthyosis genes and variants: KRT10; 5 disease-causing, 0 uncertain
- Bartter syndrome genes and variants: CLCNKB, MAGED2, SLC12A1 and SLC12A3; 5 disease-causing, 7 uncertain
- Carney complex genes and variants: PRKAR1A; 5 disease-causing, 285 uncertain
- Coloboma, ocular, autosomal dominant genes and variants: PAX6; 5 disease-causing, 0 uncertain
- Cornelia de Lange syndrome genes and variants: BRD4 and RAD21; 5 disease-causing, 84 uncertain
- Dejerine-Sottas disease genes and variants: PMP22; 5 disease-causing, 7 uncertain
- Donnai-Barrow syndrome genes and variants: LRP2; 5 disease-causing, 665 uncertain
- Encephalocraniocutaneous lipomatosis genes and variants: FGFR1 and KRAS; 5 disease-causing, 26 uncertain
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive genes and variants: KRT14 and KRT5; 5 disease-causing, 1 uncertain
- Epidermolysis bullosa simplex 2B, generalized intermediate genes and variants: KRT5; 5 disease-causing, 3 uncertain
- Epidermolysis bullosa, junctional 5A, intermediate genes and variants: ITGB4; 5 disease-causing, 250 uncertain
- Epidermolytic ichthyosis genes and variants: KRT1 and KRT10; 5 disease-causing, 9 uncertain
- Epidermolytic nevus genes and variants: KRT10; 5 disease-causing, 0 uncertain
- Gaucher disease perinatal lethal genes and variants: GBA1; 5 disease-causing, 7 uncertain
- Hereditary cryohydrocytosis with reduced stomatin genes and variants: SLC2A1; 5 disease-causing, 47 uncertain
- Heyn-Sproul-Jackson syndrome genes and variants: DNMT3A; 5 disease-causing, 4 uncertain
- Large congenital melanocytic nevus genes and variants: HRAS and NRAS; 5 disease-causing, 6 uncertain
- Levy-Hollister syndrome genes and variants: FGFR2 and FGFR3; 5 disease-causing, 10 uncertain
- Linear nevus sebaceous syndrome genes and variants: HRAS, KRAS and NRAS; 5 disease-causing, 9 uncertain
- Luscan-Lumish syndrome genes and variants: SETD2; 5 disease-causing, 400 uncertain
- Maffucci syndrome genes and variants: COL2A1, HIF1A, IDH1 and IDH2; 5 disease-causing, 6 uncertain
- McCune-Albright syndrome genes and variants: GNAS; 5 disease-causing, 3 uncertain
- Melnick-Fraser syndrome genes and variants: EYA1 and SIX1; 5 disease-causing, 85 uncertain
- MEN2 phenotype: Unclassified genes and variants: RET; 5 disease-causing, 0 uncertain
- Mucopolysaccharidosis, MPS-III-A genes and variants: IDS; 5 disease-causing, 4 uncertain
- Primary myelofibrosis genes and variants: ACVR1, CALR, FLT3, JAK1 and 3 more; 5 disease-causing, 12 uncertain
- SMARCA4-related BAFopathy genes and variants: SMARCA4; 5 disease-causing, 1 uncertain
- Tangier disease genes and variants: ABCA1; 5 disease-causing, 64 uncertain
- TUBB3-related tubulinopathy genes and variants: TUBB3; 5 disease-causing, 2 uncertain
- Agammaglobulinemia genes and variants: PIK3R1, SPI1, CD79A and CD79B; 4 disease-causing, 308 uncertain
- Alstrom syndrome genes and variants: ALMS1; 4 disease-causing, 1,888 uncertain
- Benign hereditary chorea genes and variants: NKX2-1; 4 disease-causing, 8 uncertain
- Chronic granulomatous disease genes and variants: CYBB, IFNGR1, IFNGR2, NCF1 and 2 more; 4 disease-causing, 4 uncertain
- Epidermal nevus genes and variants: HRAS and NRAS; 4 disease-causing, 13 uncertain
- Epidermolysis bullosa pruriginosa genes and variants: COL7A1; 4 disease-causing, 4 uncertain
- Familial hyperaldosteronism type III genes and variants: KCNJ5; 4 disease-causing, 48 uncertain
- FG syndrome genes and variants: CASK and FLNA; 4 disease-causing, 28 uncertain
- Fibromatosis, gingival, 1 genes and variants: SOS1; 4 disease-causing, 81 uncertain
- Focal segmental glomerulosclerosis genes and variants: APOL1, COL4A4, NPHS1 and NPHS2; 4 disease-causing, 25 uncertain
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions genes and variants: GRN; 4 disease-causing, 241 uncertain
- Hereditary hemorrhagic telangiectasia genes and variants: ACVRL1 and SMAD4; 4 disease-causing, 1 uncertain
- Imagawa-Matsumoto syndrome genes and variants: SUZ12; 4 disease-causing, 6 uncertain
- Infantile spasms genes and variants: CDKL5, GRIN2B, SCN2A and SCN8A; 4 disease-causing, 1 uncertain
- Inherited Creutzfeldt-Jakob disease genes and variants: PRNP; 4 disease-causing, 0 uncertain
- Junctional epidermolysis bullosa gravis of Herlitz genes and variants: LAMB3, LAMA3 and LAMC2; 4 disease-causing, 87 uncertain
- King Denborough syndrome genes and variants: RYR1; 4 disease-causing, 7 uncertain
- Laminopathy genes and variants: LMNA; 4 disease-causing, 4 uncertain
- Lucey-Driscoll syndrome genes and variants: UGT1A1; 4 disease-causing, 25 uncertain
- Noonan syndrome with multiple lentigines genes and variants: BRAF, MAP2K1 and PTPN11; 4 disease-causing, 0 uncertain
- O'Donnell-Luria-Rodan syndrome genes and variants: KMT2E; 4 disease-causing, 46 uncertain
- PCWH syndrome genes and variants: SOX10; 4 disease-causing, 13 uncertain
- Persistent Mullerian duct syndrome genes and variants: AMH; 4 disease-causing, 4 uncertain
- PIK3CA constitutional syndrome genes and variants: PIK3CA; 4 disease-causing, 3 uncertain
- Radioulnar synostosis genes and variants: MECOM; 4 disease-causing, 1 uncertain
- Saethre-Chotzen syndrome genes and variants: FGFR2; 4 disease-causing, 4 uncertain
- Steatocystoma multiplex genes and variants: KRT17; 4 disease-causing, 3 uncertain
- TARP syndrome genes and variants: RBM10; 4 disease-causing, 3 uncertain
- Tuberous sclerosis syndrome genes and variants: TSC1 and TSC2; 4 disease-causing, 745 uncertain
- Xeroderma pigmentosum group A genes and variants: XPA; 4 disease-causing, 13 uncertain
- Xeroderma pigmentosum, group G genes and variants: ERCC5; 4 disease-causing, 56 uncertain
- BBS2-related ciliopathy genes and variants: BBS2; 3 disease-causing, 1 uncertain
- Congenital secretory sodium diarrhea 8 genes and variants: SLC9A3; 3 disease-causing, 9 uncertain
- Cutaneous mastocytosis genes and variants: KIT; 3 disease-causing, 21 uncertain
- Epidermolysis bullosa genes and variants: COL7A1 and KRT5; 3 disease-causing, 0 uncertain
- Familial multiple nevi flammei genes and variants: GNA11 and GNAQ; 3 disease-causing, 0 uncertain
- Fatal familial insomnia genes and variants: PRNP; 3 disease-causing, 2 uncertain
- Foveal hypoplasia 1 genes and variants: PAX6; 3 disease-causing, 5 uncertain
- Hypospadias genes and variants: PIK3CA, AR and HSD3B2; 3 disease-causing, 3 uncertain
- IMAGe syndrome genes and variants: CDKN1C; 3 disease-causing, 13 uncertain
- Kufor-Rakeb syndrome genes and variants: ATP13A2; 3 disease-causing, 363 uncertain
- Liang-Wang syndrome genes and variants: KCNMA1; 3 disease-causing, 13 uncertain
- MASS syndrome genes and variants: COL2A1 and FBN1; 3 disease-causing, 31 uncertain
- Mirror movements 1 genes and variants: DCC and RAD51; 3 disease-causing, 7 uncertain
- Mucopolysaccharidosis, MPS-I-H/S genes and variants: IDUA; 3 disease-causing, 10 uncertain
- Myoclonus, familial, 2 genes and variants: SCN8A; 3 disease-causing, 12 uncertain
- Neurofibromatosis-Noonan syndrome genes and variants: NF1; 3 disease-causing, 6 uncertain
- Neurogenic scapuloperoneal syndrome, Kaeser type genes and variants: DES; 3 disease-causing, 23 uncertain
- Pseudohermaphroditism genes and variants: HSD17B3 and LHCGR; 3 disease-causing, 0 uncertain
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome genes and variants: PSTPIP1; 3 disease-causing, 235 uncertain
- Pyropoikilocytosis, hereditary genes and variants: SPTA1 and SPTB; 3 disease-causing, 87 uncertain
- Spermatogenic failure 72 genes and variants: WDR19 and XRCC2; 3 disease-causing, 69 uncertain
- Tietz syndrome genes and variants: MITF; 3 disease-causing, 263 uncertain
- Treacher Collins syndrome 2 genes and variants: POLR1D and TGM1; 3 disease-causing, 2 uncertain
- Weill-Marchesani syndrome 2, dominant genes and variants: FBN1; 3 disease-causing, 40 uncertain
- White sponge nevus genes and variants: KRT13 and KRT4; 3 disease-causing, 31 uncertain
- ARID1A-related BAFopathy genes and variants: ARID1A; 2 disease-causing, 3 uncertain
- Arthrogryposis multiplex congenita genes and variants: NEB, RYR1, SCN4A and SCN8A; 2 disease-causing, 16 uncertain
- Auriculocondylar syndrome genes and variants: EDN1; 2 disease-causing, 1 uncertain
- Autosomal recessive spastic paraplegia type 78 genes and variants: ATP13A2, KIF1A and SPG7; 2 disease-causing, 350 uncertain
- Basal cell nevus syndrome 1 genes and variants: PTCH1 and SUFU; 2 disease-causing, 49 uncertain
- Basal ganglia calcification, idiopathic, 4 genes and variants: PDGFRB; 2 disease-causing, 107 uncertain
- Behcet disease genes and variants: MEFV and TNFRSF1A; 2 disease-causing, 0 uncertain
- BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 genes and variants: UGT1A1; 2 disease-causing, 7 uncertain
- Bohring-Opitz syndrome genes and variants: ASXL1; 2 disease-causing, 33 uncertain
- Brunner syndrome genes and variants: MAOA; 2 disease-causing, 50 uncertain
- Childhood apraxia of speech genes and variants: FOXP2; 2 disease-causing, 26 uncertain
- Christianson syndrome genes and variants: SLC9A6; 2 disease-causing, 40 uncertain
- CLAPO syndrome genes and variants: PIK3CA; 2 disease-causing, 4 uncertain
- CLOVES syndrome genes and variants: PIK3CA and PIK3R1; 2 disease-causing, 3 uncertain
- Cockayne syndrome genes and variants: ERCC4; 2 disease-causing, 317 uncertain
- Delpire-McNeill syndrome genes and variants: SLC12A2; 2 disease-causing, 26 uncertain
- Dowling-Degos disease genes and variants: KRT5; 2 disease-causing, 2 uncertain
- Dystonic disorder genes and variants: ATP1A3, NPC1 and DRD2; 2 disease-causing, 37 uncertain
- Epidermolysis bullosa simplex 2A, generalized severe genes and variants: KRT5; 2 disease-causing, 2 uncertain
- Estrogen resistance syndrome genes and variants: ESR1; 2 disease-causing, 3 uncertain
- Familial visceral amyloidosis, Ostertag type genes and variants: FGA and APOA1; 2 disease-causing, 69 uncertain
- Hereditary hemochromatosis genes and variants: HFE; 2 disease-causing, 38 uncertain
- Hereditary neutrophilia genes and variants: CSF3R; 2 disease-causing, 3 uncertain
- Ichthyosis, annular epidermolytic 1 genes and variants: KRT1 and KRT10; 2 disease-causing, 1 uncertain
- Ischemic stroke genes and variants: F10, F2, F5, NOTCH3 and 1 more; 2 disease-causing, 10 uncertain
- Junctional epidermolysis bullosa, non-Herlitz type genes and variants: COL17A1, ITGB4, LAMA3, LAMB3 and 1 more; 2 disease-causing, 86 uncertain
- Keratosis palmoplantaris striata 2 genes and variants: DSP and KRT1; 2 disease-causing, 33 uncertain
- Kleefstra syndrome 2 genes and variants: KMT2C; 2 disease-causing, 186 uncertain
- KMT2C-related NDD genes and variants: KMT2C; 2 disease-causing, 1 uncertain
- Kuru, susceptibility to genes and variants: PRNP; 2 disease-causing, 2 uncertain
- Leydig cell hypoplasia genes and variants: LHCGR; 2 disease-causing, 0 uncertain
- Meckel syndrome genes and variants: CEP290, PKD1 and PKD2; 2 disease-causing, 55 uncertain
- Melorheostosis genes and variants: MAP2K1; 2 disease-causing, 12 uncertain
- Muenke syndrome genes and variants: FGFR3; 2 disease-causing, 11 uncertain
- Multiple self-healing squamous epithelioma genes and variants: TGFBR1; 2 disease-causing, 11 uncertain
- Myeloproliferative disorder, chronic, with eosinophilia genes and variants: PDGFRB; 2 disease-causing, 5 uncertain
- Neuromuscular disease genes and variants: LDB3; 2 disease-causing, 3 uncertain
- Neuromuscular disease caused by qualitative or quantitative defects of dystrophin genes and variants: DMD; 2 disease-causing, 1 uncertain
- Nijmegen breakage syndrome-like disorder genes and variants: RAD50; 2 disease-causing, 173 uncertain
- Orthostatic hypotension 1 genes and variants: DBH; 2 disease-causing, 139 uncertain
- Palmoplantar keratoderma, epidermolytic genes and variants: KRT9; 2 disease-causing, 30 uncertain
- Pituitary stalk interruption syndrome genes and variants: DNMT1 and SMARCA2; 2 disease-causing, 5 uncertain
- Proteus syndrome genes and variants: AKT1; 2 disease-causing, 6 uncertain
- Pyruvate kinase hyperactivity genes and variants: PKLR; 2 disease-causing, 6 uncertain
- Relapsing remitting multiple sclerosis genes and variants: KEAP1, MS4A1 and HNRNPA1; 2 disease-causing, 2 uncertain
- Rothmund-Thomson syndrome genes and variants: RECQL4; 2 disease-causing, 160 uncertain
- Southeast Asian ovalocytosis genes and variants: SLC4A1; 2 disease-causing, 21 uncertain
- Ulnar-mammary syndrome genes and variants: TBX3; 2 disease-causing, 45 uncertain
- X-linked complicated corpus callosum dysgenesis genes and variants: L1CAM; 2 disease-causing, 10 uncertain
- Xeroderma pigmentosum, group F genes and variants: ERCC4; 2 disease-causing, 373 uncertain
- Aromatase excess syndrome genes and variants: CYP19A1; 1 disease-causing, 3 uncertain
- Arthrogryposis, distal, IIa 11 genes and variants: MET; 1 disease-causing, 19 uncertain
- Autosomal dominant palmoplantar keratoderma and congenital alopecia genes and variants: GJA1; 1 disease-causing, 3 uncertain
- Blepharocheilodontic syndrome 1 genes and variants: CDH1; 1 disease-causing, 33 uncertain
- Candidiasis, familial, 6 genes and variants: IL17F and TRAF3IP2; 1 disease-causing, 99 uncertain
- Choroidal dystrophy, central areolar 2 genes and variants: PRPH2; 1 disease-causing, 9 uncertain
- Choroideremia genes and variants: CHM; 1 disease-causing, 12 uncertain
- Congenital diarrhea 5 with tufting enteropathy genes and variants: EPCAM; 1 disease-causing, 14 uncertain
- Congenital reticular ichthyosiform erythroderma genes and variants: KRT10 and TGM1; 1 disease-causing, 1 uncertain
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome genes and variants: NLRP1; 1 disease-causing, 6 uncertain
- Crouzon syndrome-acanthosis nigricans syndrome genes and variants: FGFR3; 1 disease-causing, 5 uncertain
- Curry-Jones syndrome genes and variants: SMO; 1 disease-causing, 4 uncertain
- Diffuse nonepidermolytic palmoplantar keratoderma genes and variants: KRT1; 1 disease-causing, 9 uncertain
- Disseminated atypical mycobacterial infection genes and variants: IFNGR1; 1 disease-causing, 182 uncertain
- Eiken syndrome genes and variants: PTH1R; 1 disease-causing, 31 uncertain
- Epidermolysis bullosa simplex 2C, localized genes and variants: KRT5; 1 disease-causing, 2 uncertain
- Epidermolysis bullosa simplex with mottled pigmentation genes and variants: KRT5; 1 disease-causing, 2 uncertain
- Epidermolysis bullosa, junctional 4, intermediate genes and variants: COL17A1 and LAMA3; 1 disease-causing, 4 uncertain
- Epithelial recurrent erosion dystrophy genes and variants: COL17A1; 1 disease-causing, 4 uncertain
- Fragile X syndrome genes and variants: FMR1; 1 disease-causing, 7 uncertain
- Hajdu-Cheney syndrome genes and variants: NOTCH2; 1 disease-causing, 789 uncertain
- Holoprosencephaly genes and variants: NSD1 and PTCH1; 1 disease-causing, 60 uncertain
- Hypoproteinemia, hypercatabolic genes and variants: B2M; 1 disease-causing, 31 uncertain
- Ichthyosis linearis circumflexa genes and variants: SPINK5; 1 disease-causing, 210 uncertain
- Isolated anhidrosis with normal sweat glands genes and variants: ITPR2; 1 disease-causing, 3 uncertain
- Keratitis fugax hereditaria genes and variants: NLRP3; 1 disease-causing, 2 uncertain
- Kindler syndrome genes and variants: FERMT1; 1 disease-causing, 20 uncertain
- Lennox-Gastaut syndrome genes and variants: CA2, CCND2, DNM1, GABRA1 and 9 more; 1 disease-causing, 0 uncertain
- Lethal congenital contracture syndrome 2 genes and variants: ERBB3; 1 disease-causing, 5 uncertain
- Lethal polymalformative syndrome, Boissel type genes and variants: FTO; 1 disease-causing, 24 uncertain
- Long telomere syndrome genes and variants: POT1; 1 disease-causing, 4 uncertain
- Lopes-Maciel-Rodan syndrome genes and variants: HTT; 1 disease-causing, 10 uncertain
- Mastocytosis genes and variants: KIT; 1 disease-causing, 20 uncertain
- Meacham syndrome genes and variants: WT1; 1 disease-causing, 2 uncertain
- Meckel-Gruber syndrome genes and variants: CEP290; 1 disease-causing, 696 uncertain
- Mosaic variegated aneuploidy syndrome genes and variants: BUB1B; 1 disease-causing, 466 uncertain
- Moyamoya disease genes and variants: ACTA2; 1 disease-causing, 8 uncertain
- Mungan syndrome genes and variants: RAD21; 1 disease-causing, 4 uncertain
- Myoclonus, intractable, neonatal genes and variants: KIF5A; 1 disease-causing, 7 uncertain
- Netherton syndrome genes and variants: SPINK5; 1 disease-causing, 119 uncertain
- Neuronopathy, distal hereditary motor, type 5B genes and variants: REEP1; 1 disease-causing, 4 uncertain
- Newfoundland cone-rod dystrophy genes and variants: RLBP1; 1 disease-causing, 12 uncertain
- Otofaciocervical syndrome genes and variants: EYA1; 1 disease-causing, 41 uncertain
- Ovarian hyperstimulation syndrome genes and variants: FSHR; 1 disease-causing, 0 uncertain
- Paroxysmal central nervous system disorders genes and variants: ATP1A2; 1 disease-causing, 5 uncertain
- Primary failure of tooth eruption genes and variants: PTH1R; 1 disease-causing, 51 uncertain
- Progressive osseous heteroplasia genes and variants: GNAS; 1 disease-causing, 2 uncertain
- Pseudo-TORCH syndrome 3 genes and variants: STAT2; 1 disease-causing, 5 uncertain
- Reynolds syndrome genes and variants: LBR; 1 disease-causing, 3 uncertain
- Seborrheic keratosis genes and variants: FGFR3, FLG and PIK3CA; 1 disease-causing, 8 uncertain
- Spondylocarpotarsal synostosis syndrome genes and variants: FLNB; 1 disease-causing, 20 uncertain
- Syndactyly type 3 genes and variants: GJA1; 1 disease-causing, 8 uncertain
- Teratoma genes and variants: SETBP1; 1 disease-causing, 7 uncertain
- Wagner disease genes and variants: VCAN; 1 disease-causing, 51 uncertain
- Xeroderma pigmentosum, group C genes and variants: XPC; 1 disease-causing, 64 uncertain
- XFE progeroid syndrome genes and variants: ERCC4; 1 disease-causing, 22 uncertain