ClinVar Miner

Variants by condition

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Total conditions: 23966
Total variants: 2813113
Total genes and gene combinations: 53258
Total submitters: 2778
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Filter Condition Variants Genes Submitters
not provided 1153171 29551 247
Inborn genetic diseases 436280 23382 4
Hereditary cancer-predisposing syndrome 145420 211 41
not specified 131555 7850 102
Cardiovascular phenotype 52144 279 4
See cases 25714 14272 87
Hereditary breast ovarian cancer syndrome 21437 159 65
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 19920 28 1
Primary ciliary dyskinesia 19577 101 22
Hereditary nonpolyposis colorectal neoplasms 17429 25 5
Familial cancer of breast 15683 75 107
Cardiomyopathy 14906 141 32
Fanconi anemia 14712 53 13
Familial thoracic aortic aneurysm and aortic dissection 14058 66 21
Early infantile epileptic encephalopathy with suppression bursts 12796 76 20
Ataxia-telangiectasia syndrome 12592 16 86
Neurofibromatosis, type 1 11658 32 115
Spastic paraplegia 10890 73 15
Long QT syndrome 10786 181 24
Familial adenomatous polyposis 1 10460 9 61
Nemaline myopathy 2 9973 5 61
Hypertrophic cardiomyopathy 9762 139 42
Breast-ovarian cancer, familial, susceptibility to, 1 8637 28 112
Tuberous sclerosis 2 8484 21 74
Duchenne muscular dystrophy 7202 19 66
Bardet-Biedl syndrome 7017 63 28
Breast-ovarian cancer, familial, susceptibility to, 2 6718 11 104
RYR1-Related Disorders 6499 5 11
Retinal dystrophy 6416 248 18
Charcot-Marie-Tooth disease type 2 6377 47 7
Catecholaminergic polymorphic ventricular tachycardia 1 6304 21 38
Familial aplasia of the vermis; Meckel-Gruber syndrome 5902 20 1
RASopathy 5776 40 16
Alstrom syndrome 5582 4 69
Bethlem myopathy 1 5575 13 42
Charcot-Marie-Tooth disease type 4 5527 37 6
Gastrointestinal stromal tumor 5455 19 26
Retinitis pigmentosa 5359 182 41
Cohen syndrome 5292 10 76
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 5278 6 1
DICER1-related tumor predisposition 5052 4 15
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 4880 6 2
Gorlin syndrome 4829 11 49
Baller-Gerold syndrome 4658 5 12
Rhabdoid tumor predisposition syndrome 2 4549 3 13
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 4448 11 1
Cystic fibrosis 4405 25 84
Nephronophthisis 4313 45 8
Epileptic encephalopathy 4309 73 22
Colorectal cancer, susceptibility to, 10 4166 3 19
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 4161 3 1
Autosomal recessive polycystic kidney disease 4099 8 48
Neuroblastoma, susceptibility to, 3 4090 4 16
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 4034 8 2
Kabuki syndrome 4030 2 2
LAMA2-related muscular dystrophy 4030 4 7
Familial cancer of breast; Fanconi anemia complementation group J 3875 4 3
Tuberous sclerosis 1 3700 11 60
Ehlers-Danlos syndrome, classic type, 1 3658 8 35
Charcot-Marie-Tooth disease axonal type 2O 3654 7 26
Werner syndrome 3580 5 23
Hereditary diffuse gastric adenocarcinoma 3514 7 37
Bloom syndrome 3494 4 51
Neuronal ceroid lipofuscinosis 3466 26 8
Leigh syndrome 3365 81 47
Jeune thoracic dystrophy 3315 34 6
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 3240 2 29
Brugada syndrome 3217 48 24
Qualitative or quantitative defects of dysferlin 3215 3 7
Charcot-Marie-Tooth disease 3200 103 13
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 3193 3 1
Chédiak-Higashi syndrome 3178 5 28
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 3158 4 4
Hypercholesterolemia, familial, 1 3117 18 109
CHARGE association 3106 16 97
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 3093 5 1
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 3018 6 2
Familial hypercholesterolemia 3006 12 23
Oligodontia-cancer predisposition syndrome 2980 3 22
Ellis-van Creveld syndrome; Curry-Hall syndrome 2952 7 3
Non-ketotic hyperglycinemia 2950 12 51
Hereditary spastic paraplegia 11 2949 9 54
Juvenile polyposis syndrome 2934 5 16
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2886 7 4
Microcephaly, normal intelligence and immunodeficiency 2850 6 34
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2806 5 6
Dyskeratosis congenita 2784 30 13
Primary dilated cardiomyopathy 2766 162 55
Renal cell carcinoma 2750 5 4
Adams-Oliver syndrome 5 2709 9 19
Cardiac arrhythmia 2709 33 18
Multiple endocrine neoplasia, type 2 2693 5 8
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2641 3 7
EGFR-related lung cancer 2626 2 3
Retinoblastoma 2583 15 39
Glycogen storage disease, type II 2557 7 76
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2549 5 1
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2540 9 1
Intellectual disability 2519 694 75
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2511 9 4
Progressive sclerosing poliodystrophy 2487 9 30
Familial aplasia of the vermis 2478 52 19
Glycogen storage disease type III 2461 1 45
Wilson disease 2447 8 81
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2437 3 4
Lynch syndrome 2400 26 25
Tuberous sclerosis syndrome 2363 4 14
MHC class II deficiency 2352 14 27
Propionic acidemia 2315 7 54
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2296 4 5
Severe combined immunodeficiency due to DNA-PKcs deficiency 2289 6 12
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2286 6 1
Congenital contractural arachnodactyly 2285 3 39
Niemann-Pick disease, type C1 2261 8 62
Li-Fraumeni syndrome 2259 12 19
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2258 1 2
Early-onset myopathy with fatal cardiomyopathy 2216 20 24
Autosomal recessive limb-girdle muscular dystrophy type 2J 2212 20 35
Perlman syndrome 2203 8 20
Tibial muscular dystrophy 2199 21 19
Myopathy, myofibrillar, 9, with early respiratory failure 2195 21 16
Familial adenomatous polyposis 2 2127 7 50
Osteogenesis imperfecta type I 2116 10 51
Peroxisome biogenesis disorder 2116 19 13
Ehlers-Danlos syndrome, type 4 2096 7 55
Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2076 3 1
Dilated cardiomyopathy 1G 2069 22 54
Breast and/or ovarian cancer 2065 26 4
BAP1-related tumor predisposition syndrome 2049 6 22
Hereditary spastic paraplegia 2043 98 17
Hereditary pancreatitis 2038 17 40
Maple syrup urine disease 2038 9 53
Vici syndrome 2032 5 38
Congenital myasthenic syndrome 8 1993 7 25
Maturity onset diabetes mellitus in young 1978 25 17
Multiple endocrine neoplasia, type 1 1960 6 46
Malignant tumor of breast 1948 70 15
Alpha thalassemia-X-linked intellectual disability syndrome 1934 4 34
Peutz-Jeghers syndrome 1932 13 42
Aortic aneurysm, familial thoracic 4 1883 5 37
Marfan syndrome 1876 24 102
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 1874 1 3
Autosomal dominant nocturnal frontal lobe epilepsy 1849 15 6
Birt-Hogg-Dube syndrome 1846 4 39
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 1838 3 3
PTEN hamartoma tumor syndrome 1822 14 28
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1821 7 7
Very long chain acyl-CoA dehydrogenase deficiency 1807 8 57
Usher syndrome type 2A 1798 7 67
Combined immunodeficiency due to LRBA deficiency 1793 8 34
Familial focal epilepsy with variable foci 1790 4 3
Lynch syndrome 1 1784 17 58
Developmental and epileptic encephalopathy, 12 1771 7 16
Zellweger spectrum disorders 1738 7 4
Kleefstra syndrome 1 1730 20 60
Congenital hyperammonemia, type I 1720 1 33
Hereditary pheochromocytoma-paraganglioma 1720 16 12
Early myoclonic encephalopathy 1709 6 7
Familial melanoma 1708 14 5
Landau-Kleffner syndrome 1693 7 64
Pitt-Hopkins-like syndrome 2 1686 8 19
Developmental and epileptic encephalopathy 94 1657 3 57
Hyperkalemic periodic paralysis 1656 6 15
Imerslund-Grasbeck syndrome 1655 9 17
Saldino-Mainzer syndrome 1623 10 28
Tramadol response 1610 17 1
Aortic aneurysm, familial thoracic 7 1609 6 33
Hypertrophic cardiomyopathy 14 1608 8 17
Deficiency of alpha-mannosidase 1600 8 37
Neurofibromatosis, type 2 1599 4 34
KBG syndrome 1592 20 92
Autosomal recessive hyper-IgE syndrome 1580 3 1
Tumor predisposition syndrome 3 1579 1 10
Walker-Warburg congenital muscular dystrophy 1574 10 6
Ehlers-Danlos syndrome, dermatosparaxis type 1564 5 20
Multiple acyl-CoA dehydrogenase deficiency 1561 5 36
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 1555 6 9
Fanconi anemia complementation group A 1541 28 61
Retinitis pigmentosa 12; Leber congenital amaurosis 8 1540 3 2
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 1539 3 3
Autosomal recessive limb-girdle muscular dystrophy type 2A 1518 6 55
Cortical dysplasia-focal epilepsy syndrome 1516 8 28
Congenital long QT syndrome 1512 22 10
Dilated cardiomyopathy 1DD 1511 5 31
Immunodeficiency 104 1495 6 25
Fanconi anemia complementation group O 1488 6 11
Autoinflammatory syndrome 1480 40 2
Familial hemophagocytic lymphohistiocytosis 3 1468 3 28
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 1463 4 6
Phenylketonuria 1441 6 81
Lynch syndrome 5 1440 5 48
Polycystic kidney disease, adult type 1436 13 86
Retinitis pigmentosa 39 1425 2 29
Brugada syndrome 8 1410 5 7
Usher syndrome type 1 1403 13 40
Developmental and epileptic encephalopathy, 23 1402 4 18
Mucopolysaccharidosis type 1 1363 2 15
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 1363 1 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1360 8 25
Acute myeloid leukemia 1357 45 43
Connective tissue disorder 1352 84 4
Breast-ovarian cancer, familial, susceptibility to, 4 1330 5 28
Arrhythmogenic right ventricular dysplasia 9 1328 17 51
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 1321 4 2
Chuvash polycythemia; Von Hippel-Lindau syndrome 1320 5 2
Adrenoleukodystrophy 1317 9 63
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 1315 5 3
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1302 19 7
Pyruvate carboxylase deficiency 1296 4 29
Prostate cancer, hereditary, 1 1294 8 7
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1285 1 4
Galactosylceramide beta-galactosidase deficiency 1273 7 57
Mucolipidosis type II; Pseudo-Hurler polydystrophy 1271 1 6
Parathyroid carcinoma 1269 6 6
Dilated cardiomyopathy 1O 1265 3 12
Familial cold autoinflammatory syndrome 3 1262 1 7
Alagille syndrome due to a JAG1 point mutation 1256 7 53
Progressive myoclonic epilepsy 1252 18 2
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 1248 4 3
Glycogen storage disease, type V 1240 2 42
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 1234 1 9
Intellectual disability, autosomal dominant 5 1233 5 72
Arrhythmogenic right ventricular dysplasia 10 1224 4 25
Progressive familial heart block type IB 1224 3 17
Hereditary insensitivity to pain with anhidrosis 1222 5 29
Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 1218 4 3
Colorectal cancer, hereditary nonpolyposis, type 2 1210 3 39
Cornelia de Lange syndrome 1 1210 9 73
Rubinstein-Taybi syndrome 1210 11 6
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 1206 4 3
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 1205 3 8
Cone-rod dystrophy 6; Leber congenital amaurosis 1 1203 3 2
Ehlers-Danlos syndrome 1201 33 8
Beckwith-Wiedemann syndrome 1200 11 24
Acrocallosal syndrome 1197 4 19
Hereditary sensory neuropathy-deafness-dementia syndrome 1196 5 12
Intellectual disability, autosomal dominant 1 1195 9 39
Epidermodysplasia verruciformis 1190 11 1
Nephronophthisis 15 1189 3 18
Hereditary spastic paraplegia 49 1186 3 20
Charlevoix-Saguenay spastic ataxia 1173 3 66
Myopathy, proximal, and ophthalmoplegia 1171 7 31
Metachromatic leukodystrophy 1170 7 59
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 1160 2 7
FG syndrome 1157 2 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 1155 1 1
Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 1153 3 4
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 1146 4 5
Dilated cardiomyopathy 1JJ 1144 2 18
Idiopathic generalized epilepsy 1144 14 7
Hereditary hemorrhagic telangiectasia 1143 5 6
Hereditary spastic paraplegia 39 1142 4 14
Noonan syndrome 9 1139 3 28
Endometrial carcinoma 1137 37 23
Familial colorectal cancer 1135 25 11
Congenital myasthenic syndrome 4A 1124 9 17
Renal carnitine transport defect 1121 7 45
Sotos syndrome 1121 10 71
Mucopolysaccharidosis, MPS-IV-A 1118 9 37
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 1117 2 5
Hereditary hemochromatosis 1114 8 5
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 1112 3 1
Dystonic disorder 1109 31 14
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 1109 6 2
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 1106 1 3
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 1101 3 3
Polyglandular autoimmune syndrome, type 1 1098 6 35
Colorectal cancer, hereditary nonpolyposis, type 7 1097 3 10
Mowat-Wilson syndrome 1095 4 64
Hajdu-Cheney syndrome 1093 2 17
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1090 2 22
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1084 3 2
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 1084 3 1
Monogenic diabetes 1084 49 7
Tay-Sachs disease 1082 6 52
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 1078 2 5
Gorlin syndrome; Medulloblastoma 1077 4 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1077 8 31
Dilated cardiomyopathy 1KK 1076 2 19
Leber congenital amaurosis 1076 62 21
Developmental and epileptic encephalopathy, 9 1072 6 50
Left ventricular noncompaction 8 1069 4 18
Neonatal-onset encephalopathy with rigidity and seizures 1069 2 19
Charcot-Marie-Tooth disease, type I 1066 31 5
Methylmalonic acidemia with homocystinuria, type cblX 1064 4 23
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1060 2 5
Arrhythmogenic right ventricular dysplasia 11 1056 3 28
Severe myoclonic epilepsy in infancy 1054 12 70
Brachyolmia-amelogenesis imperfecta syndrome 1052 8 9
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 1049 3 12
Dilated cardiomyopathy 1W 1045 2 9
Autosomal recessive DOPA responsive dystonia 1044 5 33
MHC class I deficiency 1044 6 16
Charcot-Marie-Tooth disease dominant intermediate B 1041 6 15
Familial cold autoinflammatory syndrome 2 1041 3 31
Schimke immuno-osseous dysplasia 1027 3 27
Familial Mediterranean fever 1021 2 47
Emery-Dreifuss muscular dystrophy 1020 13 6
Pityriasis rubra pilaris; Psoriasis 2 1018 5 5
Generalized epilepsy-paroxysmal dyskinesia syndrome 1016 3 21
Mucopolysaccharidosis, MPS-III-A 1016 10 43
Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 1012 2 1
Facioscapulohumeral muscular dystrophy 2 1012 3 11
Joubert syndrome 21 1012 5 26
Ataxia-telangiectasia-like disorder 1009 2 3
Familial hemophagocytic lymphohistiocytosis 5 1002 5 25
Severe combined immunodeficiency due to DCLRE1C deficiency 994 6 16
Cholestanol storage disease 992 3 40
TTN-related condition 990 20 1
Hereditary spastic paraplegia 4 987 18 73
Wilms tumor 1 978 6 20
Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 974 4 1
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 972 6 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 972 5 43
Capillary malformation-arteriovenous malformation syndrome 970 4 2
Familial hemiplegic migraine 965 7 3
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 963 4 1
Jeune thoracic dystrophy; Nephronophthisis 961 2 1
Myofibrillar myopathy 4 960 3 12
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 959 2 2
Severe neonatal-onset encephalopathy with microcephaly 953 13 15
Polycystic kidney disease 4 948 3 46
Developmental and epileptic encephalopathy, 36 942 3 23
DOCK2 deficiency 938 5 14
Carnitine palmitoyl transferase 1A deficiency 935 2 24
Koolen-de Vries syndrome 930 6 45
Methylcobalamin deficiency type cblG 930 3 15
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 930 3 1
Naxos disease; Arrhythmogenic right ventricular dysplasia 12 927 2 4
Pyridoxine-dependent epilepsy 926 9 45
Genitopatellar syndrome 925 4 21
Dystonia 12 923 3 22
Benign neonatal seizures 917 3 3
Ehlers-Danlos syndrome, kyphoscoliotic type 1 917 5 25
Developmental and epileptic encephalopathy, 30 913 6 16
Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 913 1 4
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 912 2 2
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 911 1 1
Glucose-6-phosphate transport defect 911 3 26
Lethal multiple pterygium syndrome 911 8 14
Primary familial hypertrophic cardiomyopathy 910 85 14
Creatine transporter deficiency 906 6 51
Glycogen storage disease IXb 900 4 22
Charcot-Marie-Tooth disease axonal type 2C 897 3 24
Intellectual disability, X-linked 1 897 6 47
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 895 2 1
Carnitine palmitoyltransferase II deficiency 892 3 10
Aortic valve disease 2 889 3 14
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 887 1 1
Intellectual disability, autosomal recessive 53 884 6 16
Diamond-Blackfan anemia 882 28 8
Glanzmann thrombasthenia 882 10 10
Primary ciliary dyskinesia 3 877 10 47
Neurodevelopmental disorder 875 503 27
Holocarboxylase synthetase deficiency 873 3 23
Desmin-related myofibrillar myopathy 872 5 33
Mucopolysaccharidosis type 6 872 6 36
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 872 4 3
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 868 3 2
Retinitis pigmentosa 25 861 8 42
Dilated Cardiomyopathy, Dominant 860 49 2
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 856 2 1
Combined oxidative phosphorylation defect type 17 855 1 17
MEGF10-related myopathy 850 1 13
Multiple gastrointestinal atresias 849 4 14
Hyperphosphatasia with intellectual disability syndrome 2 847 4 25
Osteogenesis imperfecta 847 33 28
Pancreatic adenocarcinoma 845 18 2
Familial infantile myasthenia 841 3 21
CFTR-related disorders 840 7 8
Carney complex, type 1 840 3 10
Neuronal ceroid lipofuscinosis 7 838 9 34
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 838 3 2
Hypertrophic cardiomyopathy 1 837 37 62
Li-Fraumeni syndrome 1 837 3 53
Congenital muscular dystrophy due to integrin alpha-7 deficiency 835 4 16
Mosaic variegated aneuploidy syndrome 1 835 6 16
Autosomal dominant Parkinson disease 8 834 2 25
Peroxisome biogenesis disorder 2B 834 5 9
Smith-Lemli-Opitz syndrome 834 4 54
Fabry disease 833 5 59
Aicardi-Goutieres syndrome 5 830 4 16
Rett syndrome 829 11 97
Intellectual disability, autosomal dominant 8 826 5 42
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 824 2 4
Pitt-Hopkins syndrome 824 5 59
Glycogen storage disease, type VII 823 2 17
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 822 4 18
Lynch syndrome 4 822 2 42
Blau syndrome; Regional enteritis 814 2 1
Combined malonic and methylmalonic acidemia 814 2 21
Kabuki syndrome 1 814 11 102
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 811 5 1
Cone-rod dystrophy 13; Leber congenital amaurosis 6 810 3 2
Multiple congenital exostosis 809 5 18
Infantile neuroaxonal dystrophy 808 3 26
Glutaric aciduria, type 1 807 7 54
Hereditary spastic paraplegia 48 806 5 19
Immunodeficiency 35 806 1 14
Muscular dystrophy-dystroglycanopathy type B6 806 5 6
Carcinoma of colon 804 64 14
Familial meningioma 804 8 11
Malignant hyperthermia, susceptibility to, 1 804 6 35
Familial acute necrotizing encephalopathy 802 6 19
Developmental and epileptic encephalopathy, 34 800 3 15
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 797 7 1
Niemann-Pick disease, type B; Niemann-Pick disease, type A 796 3 9
Ellis-van Creveld syndrome 794 10 42
Mitochondrial complex I deficiency, nuclear type 1 791 39 22
Epilepsy, familial focal, with variable foci 3 790 2 24
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 789 3 4
Argininosuccinate lyase deficiency 788 5 46
Autosomal dominant polycystic kidney disease 787 17 8
Autosomal recessive limb-girdle muscular dystrophy type 2B 787 5 50
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 786 4 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 786 4 44
Mucolipidosis type IV 786 5 24
Nephronophthisis 14 783 2 12
Methylcobalamin deficiency type cblE 775 2 14
Adenylosuccinate lyase deficiency 774 3 27
Developmental and epileptic encephalopathy, 54 772 6 42
Immunodeficiency 51 772 6 13
Sphingolipid activator protein 1 deficiency 772 3 14
Supravalvar aortic stenosis 771 3 21
Autosomal recessive limb-girdle muscular dystrophy type R18 770 2 17
Telangiectasia, hereditary hemorrhagic, type 2 768 2 38
Mucopolysaccharidosis, MPS-II 766 7 48
Donnai-Barrow syndrome 765 2 29
Immunodeficiency 14 764 4 29
Herpes simplex encephalitis, susceptibility to, 1 762 5 7
PHGDH deficiency 762 4 14
Lethal congenital glycogen storage disease of heart 759 7 7
Multiple endocrine neoplasia type 4 759 6 20
Osteogenesis imperfecta type 8 755 2 28
Collagen 6-related myopathy 752 6 9
Majeed syndrome 750 4 22
ALG1-congenital disorder of glycosylation 748 4 30
Acyl-CoA oxidase deficiency 748 2 23
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 748 3 1
Leber congenital amaurosis 2; Retinitis pigmentosa 20 747 2 4
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 741 2 34
Malignant tumor of prostate 741 462 28
Charcot-Marie-Tooth disease axonal type 2P 739 2 25
Dilated Cardiomyopathy, Recessive 739 6 2
Noonan syndrome 738 30 27
COG5-congenital disorder of glycosylation 737 8 16
Luscan-Lumish syndrome 733 4 31
Rare genetic deafness 732 81 2
2-aminoadipic 2-oxoadipic aciduria 731 3 17
Congenital disorder of deglycosylation 731 3 20
Epilepsy, familial adult myoclonic, 5 731 3 14
GNE myopathy; Sialuria 731 1 5
Alport syndrome 727 8 20
3-methylcrotonyl-CoA carboxylase 1 deficiency 725 3 24
Succinate-semialdehyde dehydrogenase deficiency 725 5 37
Infantile-onset ascending hereditary spastic paralysis 724 2 18
Colorectal cancer, susceptibility to, 12 723 4 24
Leukocyte adhesion deficiency 1 723 1 21
Congenital muscular hypertrophy-cerebral syndrome 721 5 42
Dilated cardiomyopathy 1J 721 3 5
DYRK1A-related intellectual disability syndrome 720 6 58
Polycystic kidney disease 720 12 11
Brody myopathy 717 4 16
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 713 4 9
GLUT1 deficiency syndrome 1, autosomal recessive 713 3 2
Haddad syndrome 713 3 2
ALG6-congenital disorder of glycosylation 1C 712 2 21
Pulmonary hypertension, primary, 1 709 18 18
X-linked Alport syndrome 709 7 75
Sandhoff disease 708 4 45
Lysinuric protein intolerance 707 6 20
Shprintzen-Goldberg syndrome 707 3 28
Fraser syndrome 1 706 6 38
Xanthinuria type II 706 3 5
Exostoses, multiple, type 2 703 4 24
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 701 2 28
Fibrous dysplasia of jaw 700 7 16
DiGeorge syndrome 697 18 16
Cryopyrin associated periodic syndrome 696 3 3
Epilepsy 696 28 13
Gamma-aminobutyric acid transaminase deficiency 695 5 12
Anauxetic dysplasia 694 4 1
Mucopolysaccharidosis, MPS-III-D 694 2 17
Multiple sulfatase deficiency 694 5 24
Usher syndrome type 1F 693 2 17
Hermansky-Pudlak syndrome 2 692 4 16
Transposition of the great arteries, dextro-looped 691 3 7
Arrhythmogenic right ventricular dysplasia 13 690 5 16
Hereditary spastic paraplegia 7 689 2 62
Angelman syndrome 688 17 54
Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 687 1 1
Charcot-Marie-Tooth disease axonal type 2Z 685 1 21
Autoimmune interstitial lung disease-arthritis syndrome 683 4 16
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 683 6 47
Giant axonal neuropathy 1 681 4 25
Legius syndrome 680 5 30
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 680 1 8
Isovaleryl-CoA dehydrogenase deficiency 678 1 32
PMM2-congenital disorder of glycosylation 678 5 60
Autosomal recessive ataxia, Beauce type 675 6 41
Deficiency of acetyl-CoA acetyltransferase 673 4 29
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 671 1 4
Hyperekplexia 3 671 1 19
Combined oxidative phosphorylation defect type 27 669 3 15
Breast neoplasm 667 46 13
Immunodeficiency, common variable, 7 667 4 16
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 666 3 9
Tyrosinemia type I 665 4 29
Autosomal recessive limb-girdle muscular dystrophy type 2D 662 4 36
Charcot-Marie-Tooth Neuropathy X 662 4 1
Microcephaly 5, primary, autosomal recessive 662 4 49
Citrullinemia 660 5 5
DNA ligase IV deficiency 660 1 29
Kabuki syndrome 2 660 7 50
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 658 4 28
Fanconi anemia complementation group E 656 2 14
Developmental and epileptic encephalopathy, 31 654 9 34
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 654 4 3
Peroxisome biogenesis disorder, complementation group 7 654 3 1
Central core myopathy 653 12 51
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 653 3 1
Candidiasis, familial, 9 651 7 8
Combined immunodeficiency due to DOCK8 deficiency 651 13 29
Intellectual disability, autosomal dominant 16 650 1 29
Beta-D-mannosidosis 649 6 24
Severe X-linked myotubular myopathy 649 6 31
Citrin deficiency 648 2 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 645 9 43
Ovarian cancer 644 112 8
3-methylcrotonyl-CoA carboxylase 2 deficiency 643 2 30
Aortic valve disease 1 643 14 23
Neuronal ceroid lipofuscinosis 1 642 4 42
Hereditary factor VIII deficiency disease 641 11 40
Immunodeficiency 638 10 8
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 636 4 21
Autosomal recessive Alport syndrome 633 4 48
Cowden syndrome 632 4 12
PKD1-related condition 631 3 1
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 631 5 1
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 630 4 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 628 3 18
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 628 4 32
Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 627 3 4
KMT2D-related condition 625 2 1
Rett syndrome, congenital variant 624 4 52
Autism spectrum disorder 622 335 29
Familial aplasia of the vermis; Orofaciodigital syndrome I 622 5 1
PCNT-related condition 622 2 1
Arrhythmogenic right ventricular dysplasia 5 620 1 12
Severe combined immunodeficiency due to IKK2 deficiency 620 5 9
Autosomal recessive nonsyndromic hearing loss 3 619 4 55
Myoclonic-atonic epilepsy 619 1 10
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 618 6 17
Familial dysautonomia 618 1 22
Immunodeficiency, common variable, 10 617 6 22
Transcobalamin II deficiency 617 2 19
Myasthenic syndrome, congenital, 22 610 2 19
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 608 5 1
Achondrogenesis, type IA 606 2 13
Congenital factor V deficiency 603 1 3
Developmental and epileptic encephalopathy, 25 603 4 23
Familial hemophagocytic lymphohistiocytosis 2 602 3 36
Hypercholesterolemia, autosomal dominant, 3 602 3 28
Myopathy, centronuclear, 2 601 6 14
ALG9 congenital disorder of glycosylation 599 7 11
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 599 4 2
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 599 4 1
Isolated microphthalmia 5 599 2 12
Chromosome 2q32-q33 deletion syndrome 598 5 51
Charcot-Marie-Tooth disease type 4C 596 3 41
Developmental and epileptic encephalopathy, 18 596 4 32
Developmental and epileptic encephalopathy, 26 596 4 36
Immunodeficiency 39 596 3 8
Citalopram response 595 2 1
Escitalopram response 595 2 1
Sertraline response 595 2 1
Voriconazole response 595 2 1
Pigmentary pallidal degeneration 594 6 33
Biotinidase deficiency 593 3 61
Gastrointestinal stromal tumor; Paragangliomas 3 593 5 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 592 33 17
Long QT syndrome 1 591 18 63
Ichthyosis linearis circumflexa 590 1 2
Distal hereditary motor neuropathy type 2 588 2 5
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 588 1 2
Ornithine aminotransferase deficiency 588 3 22
Microcephalic osteodysplastic primordial dwarfism type II 583 3 44
Schuurs-Hoeijmakers syndrome 582 2 38
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 580 3 6
Pheochromocytoma 580 24 36
Mucopolysaccharidosis type 7 579 3 30
Biotin-responsive basal ganglia disease 578 2 38
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 578 4 1
Lowe syndrome 578 4 34
Usher syndrome type 2A; Retinitis pigmentosa 39 578 3 7
Androgen resistance syndrome; Kennedy disease 577 2 1
Atrioventricular septal defect 4 577 3 4
Granulomatous disease, chronic, X-linked 576 6 23
Autosomal recessive nonsyndromic hearing loss 4 575 4 41
Short-rib thoracic dysplasia 6 with or without polydactyly 575 17 22
Cowden syndrome 1 574 6 51
Dyskeratosis congenita, autosomal dominant 6 574 3 11
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 574 1 5
Deficiency of malonyl-CoA decarboxylase 573 7 17
Ornithine carbamoyltransferase deficiency 573 6 45
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 572 3 3
Osteogenesis imperfecta type 7 572 4 22
Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia 571 1 1
Hereditary spherocytosis type 1 571 5 30
Finnish congenital nephrotic syndrome 570 12 53
Treacher Collins syndrome 1 569 6 34
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 567 4 2
3-methylglutaconic aciduria, type VIIB 565 5 17
Isolated focal cortical dysplasia type II 564 4 13
Neoplasm of ovary 562 37 24
Hyperammonemia, type III 559 2 17
Junctional epidermolysis bullosa gravis of Herlitz 558 7 22
Usher syndrome type 1B 558 1 5
Noonan syndrome and Noonan-related syndrome 557 25 2
Weill-Marchesani syndrome 557 8 2
Autoimmune lymphoproliferative syndrome type 1 556 7 25
Pyruvate dehydrogenase E3 deficiency 555 3 22
Von Hippel-Lindau syndrome 553 6 43
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 551 1 3
Desbuquois dysplasia 1 551 8 13
Amelocerebrohypohidrotic syndrome 550 2 19
Cranioectodermal dysplasia 1 550 5 16
Glycogen storage disease due to muscle and heart glycogen synthase deficiency 550 8 13
Brugada syndrome 4 549 1 19
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 549 3 21