ClinVar Miner

Variants by condition

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Total conditions: 14725
Total variants: 926960
Total genes and gene combinations: 33028
Total submitters: 1891
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Filter Condition Variants Genes Submitters
not provided 319632 20312 193
not specified 103615 3932 72
Hereditary cancer-predisposing syndrome 67848 131 26
See cases 25033 12721 30
Hereditary breast and ovarian cancer syndrome 11658 140 41
Cardiomyopathy 9808 98 24
Hereditary nonpolyposis colorectal neoplasms 8881 13 2
Cardiovascular phenotype 8403 131 4
Breast-ovarian cancer, familial 1 8284 18 66
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 6889 2 1
Familial cancer of breast 6687 48 60
Ataxia-telangiectasia syndrome 6389 4 43
Breast-ovarian cancer, familial 2 6271 7 63
none provided 5537 572 1
Neurofibromatosis, type 1 5361 23 54
Inborn genetic diseases 5182 1415 1
Primary ciliary dyskinesia 5114 57 13
Familial adenomatous polyposis 1 5106 3 35
Retinitis pigmentosa 5007 137 33
Familial thoracic aortic aneurysm and aortic dissection 4646 35 16
History of neurodevelopmental disorder 4571 184 1
Hypertrophic cardiomyopathy 4311 108 27
Long QT syndrome 4259 138 18
Fanconi anemia 4070 29 9
Tuberous sclerosis 2 3901 12 32
Early infantile epileptic encephalopathy with suppression bursts 3775 42 11
Colorectal cancer, susceptibility to, 12 3760 1 10
Charcot-Marie-Tooth disease 3204 83 10
Familial hypercholesterolemia 3166 10 11
Retinal dystrophy 3026 183 12
Familial hypercholesterolemia 1 3018 14 64
Leigh syndrome 2816 61 35
Lynch syndrome 2755 17 18
Nemaline myopathy 2 2676 3 32
Gastrointestinal stromal tumor 2424 16 16
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2395 1 10
Tuberous sclerosis syndrome 2345 3 9
Duchenne muscular dystrophy 2342 8 35
Charcot-Marie-Tooth disease type 4 2265 23 5
Brugada syndrome 2250 40 19
Charcot-Marie-Tooth disease, type 2 2149 20 3
Baller-Gerold syndrome 2135 1 4
Intellectual disability 2119 603 57
Gorlin syndrome 2098 8 24
Bethlem myopathy 1 2086 8 21
Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2054 2 2
Catecholaminergic polymorphic ventricular tachycardia 2026 10 10
Colorectal cancer 10 2005 1 8
Epileptic encephalopathy 1988 51 17
Rhabdoid tumor predisposition syndrome 2 1974 1 10
Dilated cardiomyopathy 1G 1924 3 17
Familial cancer of breast; Fanconi anemia, complementation group J 1920 2 2
Cystic fibrosis 1904 20 47
Myopathy, myofibrillar, 9, with early respiratory failure 1875 2 9
Malignant tumor of breast 1869 60 7
Tibial muscular dystrophy 1866 2 12
Myopathy, early-onset, with fatal cardiomyopathy 1852 2 11
Limb-girdle muscular dystrophy, type 2J 1841 2 16
Spastic paraplegia 1814 37 9
Arrhythmia 1791 11 7
RYR1-Related Disorders 1755 1 3
Tuberous sclerosis 1 1732 6 30
Neuroblastoma 3 1710 3 12
Hereditary diffuse gastric cancer 1690 3 24
Bardet-Biedl syndrome 1667 39 23
Tramadol response 1610 13 1
Seizures 1602 209 17
Primary dilated cardiomyopathy 1586 108 34
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 1584 1 1
Marfan syndrome 1576 18 55
Cohen syndrome 1559 4 49
Alstrom syndrome 1553 2 40
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 1553 3 1
Bloom syndrome 1458 3 29
Werner syndrome 1456 2 16
Oligodontia-colorectal cancer syndrome 1441 2 9
Microcephaly, normal intelligence and immunodeficiency 1421 3 20
Rasopathy 1346 23 10
Ehlers-Danlos syndrome, classic type 1277 11 24
Nephronophthisis 1268 33 7
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1244 1 12
Autosomal recessive polycystic kidney disease 1240 6 44
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 1213 3 2
Li-Fraumeni syndrome 1200 4 13
Neuronal ceroid lipofuscinosis 1175 13 7
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 1164 1 1
Multiple endocrine neoplasia, type 2 1160 3 6
Familial colorectal cancer 1126 19 9
Fanconi anemia, complementation group A 1100 17 32
Glycogen storage disease, type II 1069 4 48
Mitochondrial complex II deficiency; Paragangliomas 5 1057 1 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 1056 2 1
Retinoblastoma 1051 15 17
Peutz-Jeghers syndrome 1042 6 22
Spastic paraplegia 11, autosomal recessive 1032 4 29
MYH-associated polyposis 1013 3 27
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 1009 4 1
Alport syndrome 1, X-linked recessive 1008 5 37
Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant, 2 984 4 1
Generalized juvenile polyposis/juvenile polyposis coli 980 7 22
PTEN hamartoma tumor syndrome 973 6 15
Ehlers-Danlos syndrome, type 4 960 5 32
Laminin alpha 2-related dystrophy 957 1 4
CHARGE association 956 9 55
Perlman syndrome 950 3 8
Multiple endocrine neoplasia, type 1 940 2 25
Adams-Oliver syndrome 5 929 4 9
Joubert syndrome; Meckel-Gruber syndrome 927 9 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 908 4 1
Congenital long QT syndrome 906 10 4
Usher syndrome type 1 892 14 22
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 888 2 3
Qualitative or quantitative defects of dysferlin 886 1 5
Congenital contractural arachnodactyly 883 1 25
Dyskeratosis congenita 872 16 9
Glycogen storage disease type III 857 1 26
Non-ketotic hyperglycinemia 855 6 34
Charcot-Marie-Tooth disease, axonal, type 2O 842 2 12
Hereditary Paraganglioma-Pheochromocytoma Syndromes 832 10 9
Wilson disease 831 3 49
Hereditary melanoma 817 6 2
Progressive sclerosing poliodystrophy 815 4 20
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 812 1 4
Carcinoma of colon 805 58 15
Tumor susceptibility linked to germline BAP1 mutations 801 7 12
Multiple fibrofolliculomas 799 1 21
Bare lymphocyte syndrome 2 778 5 14
Mitochondrial complex I deficiency, nuclear type 1 777 31 10
Early myoclonic encephalopathy 776 3 8
Chédiak-Higashi syndrome 775 2 18
Phenylketonuria 769 1 48
Polycystic kidney disease, adult type 767 10 39
Prostate cancer, hereditary, 1 765 2 3
Joubert syndrome 755 45 17
Fanconi anemia, complementation group O 753 2 9
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 745 2 2
Myasthenic syndrome, congenital, 8 741 3 14
Collagen VI-related myopathy 739 4 3
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 733 1 1
Epilepsy, focal, with speech disorder and with or without mental retardation 720 5 34
Rare genetic deafness 720 69 2
Maple syrup urine disease 716 5 34
Polycystic kidney disease 716 8 8
Aortic aneurysm, familial thoracic 4 709 6 24
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 709 4 1
Charlevoix-Saguenay spastic ataxia 706 2 35
Beckwith-Wiedemann syndrome 703 8 13
Very long chain acyl-CoA dehydrogenase deficiency 703 4 35
Pitt-Hopkins-like syndrome 1 702 4 13
Renal cell carcinoma, papillary, 1 701 22 9
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 691 1 14
Neurofibromatosis, type 2 689 1 16
Autosomal dominant nocturnal frontal lobe epilepsy 686 9 3
Fumarase deficiency 679 3 15
Primary familial hypertrophic cardiomyopathy 678 76 12
Familial hyperkalemic periodic paralysis 677 3 7
Malignant tumor of prostate 666 456 13
Early infantile epileptic encephalopathy 12 665 3 12
Breast neoplasm 662 40 12
Primary pulmonary hypertension 1 660 11 11
Severe myoclonic epilepsy in infancy 660 7 38
Renal cell carcinoma 654 3 1
Breast-ovarian cancer, familial 4 645 4 13
Aortic aneurysm, familial thoracic 7 642 1 22
Dilated cardiomyopathy 1DD 642 3 21
Familial hypertrophic cardiomyopathy 14 638 6 8
Romano-Ward syndrome 637 15 4
EGFR-related lung cancer 626 1 1
Ellis-van Creveld syndrome 626 6 21
Melanoma, cutaneous malignant, susceptibility to, 10 625 1 4
Progressive myoclonic epilepsy 625 10 2
Pitt-Hopkins-like syndrome 2 623 5 13
Spinocerebellar ataxia, autosomal recessive 8 622 2 24
Acute myeloid leukemia 615 41 22
Juvenile polyposis syndrome 615 2 1
Common variable immunodeficiency 8, with autoimmunity 614 3 15
Osteogenesis imperfecta type I 613 3 21
Usher syndrome, type 2A 609 3 37
Familial platelet disorder with associated myeloid malignancy 603 3 14
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 601 1 2
Arrhythmogenic right ventricular dysplasia 9 595 13 25
Citalopram response 595 2 1
Escitalopram response 595 2 1
Immunodeficiency 26 with or without neurologic abnormalities 595 1 6
Sertraline response 595 2 1
Voriconazole response 595 2 1
Limb-girdle muscular dystrophy, type 2A 594 1 34
Lynch syndrome I 589 8 32
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 587 2 8
Alport syndrome 584 6 8
Kabuki syndrome 1 584 10 58
Leber congenital amaurosis 584 52 17
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 583 3 3
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 580 4 4
Charcot-Marie-Tooth disease, type 4C 578 2 20
Rett syndrome 578 6 55
Noonan syndrome 577 21 19
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 571 3 1
Breast and/or ovarian cancer 570 19 4
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 566 29 4
Jeune thoracic dystrophy 562 28 5
Central core myopathy 559 8 25
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 558 1 3
Weill-Marchesani syndrome 557 4 2
Fraser syndrome 1 556 3 20
Kleefstra syndrome 1 551 9 31
Niemann-Pick disease type C1 551 6 42
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 549 1 2
Malignant hyperthermia, susceptibility to, 1 548 3 19
Neoplasm of ovary 547 32 17
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 540 2 3
Limb-Girdle Muscular Dystrophy, Recessive 535 13 1
Mononeuropathy of the median nerve, mild 534 2 3
Dilated Cardiomyopathy, Dominant 533 39 2
Charcot-Marie-Tooth disease, type I 531 25 5
Saldino-Mainzer syndrome 528 6 18
Microcephalic osteodysplastic primordial dwarfism type II 522 1 25
Von Hippel-Lindau syndrome 522 3 26
Cornelia de Lange syndrome 1 521 6 33
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 520 4 1
Disorders of Intracellular Cobalamin Metabolism 513 6 1
Autosomal dominant cerebellar ataxia 512 9 1
Glucose-6-phosphate transport defect 512 3 14
Propionic acidemia 512 4 34
Connective tissue disease 511 28 3
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 508 1 2
Walker-Warburg congenital muscular dystrophy 505 8 5
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 500 2 1
Hereditary nonpolyposis colorectal cancer type 7 500 3 6
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 498 3 1
Pancreatic adenocarcinoma 493 18 2
Lethal Kniest-like syndrome 489 2 7
Schwartz-Jampel syndrome 489 2 12
Arrhythmogenic right ventricular cardiomyopathy, type 10 481 2 10
Ciliary dyskinesia, primary, 3 481 2 21
Epileptic encephalopathy, early infantile, 23 480 2 8
Primary autosomal recessive microcephaly 5 479 2 29
Arrhythmogenic right ventricular cardiomyopathy 478 43 15
Pheochromocytoma 478 14 16
Epileptic encephalopathy, childhood-onset 477 1 25
Parathyroid carcinoma 477 4 6
Brugada syndrome 8 473 2 5
Usher syndrome, type 2C 472 6 21
Dilated cardiomyopathy 1KK 471 1 15
Familial focal epilepsy with variable foci 470 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 470 2 3
Familial Mediterranean fever 465 1 28
Hereditary factor VIII deficiency disease 464 4 20
Wilms tumor 1 464 4 11
Familial hypertrophic cardiomyopathy 1 463 31 31
Metachromatic leukodystrophy 463 4 36
Renal carnitine transport defect 463 5 29
Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 463 3 8
Encephalopathy, acute, infection-induced, 3, suceptibility to 461 4 13
Monogenic diabetes 461 40 3
Ehlers-Danlos syndrome dermatosparaxis type 460 3 13
Retinitis Pigmentosa, Recessive 459 37 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 457 3 30
Hereditary nonpolyposis colorectal cancer type 5 456 2 21
Rigidity and multifocal seizure syndrome, lethal neonatal 453 2 12
Growth delay due to insulin-like growth factor I resistance 452 2 12
Hearing impairment 451 111 10
Junctional epidermolysis bullosa gravis of Herlitz 451 4 12
Vici syndrome 450 1 24
Ellis-van Creveld syndrome; Curry-Hall syndrome 445 3 3
Minicore myopathy with external ophthalmoplegia 444 1 7
Occult macular dystrophy 443 2 9
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 441 2 2
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 436 2 3
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 436 3 15
Spastic paraplegia 48, autosomal recessive 434 2 9
Dystonia 433 22 8
Mitochondrial complex IV deficiency 432 29 17
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 432 4 1
Familial dysautonomia 430 1 18
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 430 1 6
Fabry disease 428 3 35
Stargardt disease 1 428 5 29
Deafness, autosomal recessive 3 427 2 31
Donnai-Barrow syndrome 425 2 18
Adrenoleukodystrophy 423 3 34
Galactosylceramide beta-galactosidase deficiency 423 3 36
Deafness, autosomal recessive 12 422 5 13
Autism spectrum disorder 421 123 16
Mowat-Wilson syndrome 421 4 33
Usher syndrome type 1F 421 2 10
Neoplasm of the large intestine 420 34 2
Early infantile epileptic encephalopathy 9 419 2 25
Mental retardation, autosomal dominant 5 416 6 39
Sotos syndrome 1 416 1 31
Congenital disorder of glycosylation 415 43 7
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 414 2 27
Lethal multiple pterygium syndrome 414 6 9
Dystrophic epidermolysis bullosa 412 2 8
Myopathy, proximal, and ophthalmoplegia 412 4 15
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 411 1 3
Usher syndrome type 1D 411 6 14
Short-rib thoracic dysplasia 3 with or without polydactyly 410 8 21
Familial cold autoinflammatory syndrome 2 408 2 14
Luscan-lumish syndrome 408 1 11
Arrhythmogenic right ventricular cardiomyopathy, type 11 407 2 17
Congenital hyperammonemia, type I 405 1 20
Idiopathic generalized epilepsy 405 7 4
Hereditary insensitivity to pain with anhidrosis 404 2 15
Telangiectasia, hereditary hemorrhagic, type 2 403 1 20
Mucopolysaccharidosis type 6 401 2 23
Left ventricular noncompaction 8 399 3 8
Lung adenocarcinoma 398 39 6
Classic homocystinuria 397 2 26
Alpha thalassemia-X-linked intellectual disability syndrome 396 1 19
Familial hemophagocytic lymphohistiocytosis 3 394 2 13
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 394 1 1
Pendred syndrome 394 7 24
Mental retardation, autosomal dominant 1 393 4 19
Age-related macular degeneration 1 391 2 4
Gorlin syndrome; Medulloblastoma 391 1 1
Hereditary hemorrhagic telangiectasia type 1 391 4 24
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 390 1 18
Squamous cell carcinoma of the head and neck 390 33 7
Hyperphosphatasia with mental retardation syndrome 2 388 2 12
Dilated cardiomyopathy 1JJ 387 1 13
Hereditary sensory neuropathy type IE 387 3 5
Spastic paraplegia 4, autosomal dominant 387 7 32
Pseudoxanthoma elasticum 386 5 15
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 385 3 1
Dilated cardiomyopathy 1W 384 2 6
Emery-Dreifuss muscular dystrophy 381 8 6
Pitt-Hopkins syndrome 381 2 31
Catecholaminergic polymorphic ventricular tachycardia type 1 380 15 22
Peroxisome biogenesis disorder 1A (Zellweger) 379 16 20
Charcot-Marie-Tooth disease, dominant intermediate B 377 4 6
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 377 3 21
Immunodeficiency 51 376 1 7
Osteogenesis imperfecta 374 7 16
Glanzmann thrombasthenia 372 3 11
Hereditary pancreatitis 369 12 20
Multiple endocrine neoplasia, type 4 369 4 14
Charcot-Marie-Tooth disease axonal type 2C 368 3 12
Deficiency of alpha-mannosidase 365 1 23
Benign familial neonatal seizures 364 2 3
Kabuki syndrome 362 1 2
Renal dysplasia 362 5 11
Adenocarcinoma of stomach 361 33 2
Ataxia-telangiectasia-like disorder 361 2 2
Dilated cardiomyopathy 1O 361 1 7
Fraser syndrome 2 361 1 10
Pyridoxine-dependent epilepsy 361 7 20
Loeys-Dietz syndrome 359 12 9
Myofibrillar myopathy, ZASP-related 359 2 6
Alport syndrome, autosomal recessive 358 3 26
Craniosynostosis syndrome 356 17 6
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 356 1 3
Deafness, autosomal recessive 77 355 1 21
Majeed syndrome 354 1 13
Imerslund-Gräsbeck syndrome 352 3 16
Giant axonal neuropathy 1 351 2 12
Koolen-de Vries syndrome 351 6 23
Bare lymphocyte syndrome type 1 350 5 5
Hereditary hemorrhagic telangiectasia 350 3 2
Hereditary spastic paraplegia 39 350 2 8
Imerslund-Gräsbeck syndrome 1 349 2 5
Weill-Marchesani syndrome 4 349 1 5
beta Thalassemia 349 6 31
Junctional epidermolysis bullosa 347 6 5
Epidermolysis bullosa junctionalis with pyloric atresia 346 4 13
Polyglandular autoimmune syndrome, type 1 346 2 20
Biotinidase deficiency 344 1 33
Leukocyte adhesion deficiency 1 344 1 11
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 343 1 13
Progressive familial heart block type IB 343 2 14
Congenital myasthenic syndrome 342 17 11
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 341 4 26
Congenital microvillous atrophy 338 2 12
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 338 4 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 337 1 5
Histiocytic medullary reticulosis 336 5 7
Fanconi anemia, complementation group C 334 2 17
Parkinson disease 8, autosomal dominant 332 1 15
Multiple congenital anomalies-hypotonia-seizures syndrome 1 331 2 16
Charcot-Marie-Tooth disease type 2P 330 1 14
Succinate-semialdehyde dehydrogenase deficiency 330 2 20
Hyperinsulinemic hypoglycemia, familial, 1 329 3 22
Squamous cell lung carcinoma 329 28 4
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 328 1 2
Carney complex, type 1 326 2 7
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 325 1 2
Deafness, autosomal recessive 9 324 3 24
Dystonia 12 324 1 10
Multiple acyl-CoA dehydrogenase deficiency 324 4 21
Rubinstein-Taybi syndrome 1 324 3 35
Fibrous dysplasia of jaw 323 3 12
Smith-Lemli-Opitz syndrome 323 3 36
Glycogen storage disease, type V 322 1 24
Severe neonatal-onset encephalopathy with microcephaly 322 10 11
Brittle cornea syndrome 1 321 2 14
Autosomal dominant pseudohypoaldosteronism type 1 320 4 9
Immunodeficiency 35 320 1 7
Neuromuscular disease, congenital, with uniform type 1 fiber 320 1 2
Deafness, autosomal recessive 2 319 1 12
Epileptic encephalopathy, early infantile, 30 319 4 7
Tay-Sachs disease 319 2 34
Ehlers-Danlos syndrome, hydroxylysine-deficient 318 3 11
Choreoacanthocytosis 317 1 13
Familial cold autoinflammatory syndrome 3 317 1 4
Lynch syndrome II 317 2 20
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 315 2 1
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 315 1 2
Alagille syndrome 1 313 4 22
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 313 2 1
Angelman syndrome 312 11 25
Medium-chain acyl-coenzyme A dehydrogenase deficiency 311 2 25
Neurodevelopmental disorder 311 257 12
Finnish congenital nephrotic syndrome 309 9 31
Multiple congenital exostosis 309 1 10
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 309 2 1
Netherton syndrome 308 1 17
Primary hyperoxaluria, type I 308 2 22
Familial hypercholesterolemia 2 307 3 15
Epidermodysplasia verruciformis 306 3 1
Leukoencephalopathy with vanishing white matter 305 8 27
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 304 1 3
Brugada syndrome 1 304 8 20
Nephronophthisis 15 304 1 9
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 303 2 11
Premature ovarian failure 303 240 7
Ehlers-Danlos syndrome, type 7A 301 4 1
Long QT syndrome 1 300 15 38
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 300 12 7
Corneal dystrophy 299 6 3
Arrhythmogenic right ventricular dysplasia, familial, 2 298 1 9
Hereditary sensory and autonomic neuropathy type IC 298 2 10
Holt-Oram syndrome 298 3 15
Pityriasis rubra pilaris; Psoriasis susceptibility 2 298 2 3
Renal cysts and diabetes syndrome 298 5 16
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 296 2 7
Permanent neonatal diabetes mellitus 296 9 8
Glutaric aciduria, type 1 295 3 32
Iodotyrosyl coupling defect 295 2 13
Multiple gastrointestinal atresias 295 2 11
Neuroblastoma 295 27 7
Hypobetalipoproteinemia, familial, 1 294 3 10
Loeys-Dietz syndrome 4 294 5 17
Severe combined immunodeficiency due to DCLRE1C deficiency 294 4 4
Blau syndrome; Inflammatory bowel disease 1 293 1 1
Familial hemiplegic migraine 293 4 3
Autosomal recessive retinitis pigmentosa 292 34 4
KBG syndrome 292 6 44
Hereditary spastic paraplegia 15 291 1 18
Merosin deficient congenital muscular dystrophy 291 1 34
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 290 3 1
Legius syndrome 289 2 15
Fanconi anemia, complementation group P 288 1 10
Focal cortical dysplasia type II 288 3 8
Hereditary pyropoikilocytosis 288 3 5
Deafness, autosomal dominant 11 287 1 14
Malignant neoplasm of body of uterus 287 25 1
Retinitis pigmentosa 12; Leber congenital amaurosis 8 287 2 1
Macular degeneration 285 16 2
Citrullinemia type I 284 2 29
Familial hypokalemia-hypomagnesemia 284 2 31
Mucopolysaccharidosis type 1 284 2 11
Oculotrichoanal syndrome 284 1 4
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 284 1 2
Epilepsy, hearing loss, and mental retardation syndrome 283 1 12
Holocarboxylase synthetase deficiency 283 2 16
Microcephaly 283 216 9
Joubert syndrome 17 282 5 21
Mucolipidosis type II 282 2 16
Malignant melanoma of skin 280 37 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 280 1 10
Usher syndrome, type 1B 280 1 3
Familial hypertrophic cardiomyopathy 4 279 6 33
Carnitine palmitoyltransferase II deficiency 278 2 9
Epilepsy 278 24 12
Mucopolysaccharidosis, MPS-III-A 278 4 27
Agenesis of the corpus callosum with peripheral neuropathy 277 5 15
Hepatocellular carcinoma 277 26 8
Transitional cell carcinoma of the bladder 276 27 1
Mental retardation, autosomal recessive 53 275 2 6
Gamma-aminobutyric acid transaminase deficiency 274 3 6
Spherocytosis type 1 274 1 12
Meningioma, familial 273 6 6
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 271 1 16
Congenital muscular dystrophy due to partial LAMA2 deficiency 271 1 4
Gastrointestinal stromal tumor; Paragangliomas 3 271 4 1
Tangier disease 271 2 5
Cardiac arrhythmia, ankyrin B-related 270 1 17
Cutaneous malignant melanoma 5 270 2 5
Elliptocytosis 2 270 2 6
Immunodeficiency 40 269 3 6
Osteogenesis imperfecta type 7 269 2 14
Cardiomyopathy, left ventricular noncompaction 268 39 8
Benign familial neonatal seizures 2 267 2 21
Fanconi anemia, complementation group J 266 1 14
Anauxetic dysplasia 265 3 1
Brody myopathy 265 3 7
Neuronal ceroid lipofuscinosis 1 265 1 26
Epilepsy, familial focal, with variable foci 3 264 2 8
Mosaic variegated aneuploidy syndrome 264 3 2
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 264 1 6
Zellweger syndrome 264 6 2
Congenital disorder of glycosylation, type Ia 263 2 40
Familial hypoalphalipoproteinemia 263 2 3
Neuronal ceroid lipofuscinosis 7 263 4 19
Stüve-Wiedemann syndrome 263 3 11
Supravalvar aortic stenosis 263 2 10
Congenital muscular hypertrophy-cerebral syndrome 261 2 25
Insulin-resistant diabetes mellitus AND acanthosis nigricans 261 2 7
Leprechaunism syndrome 260 1 7
Biotin-responsive basal ganglia disease 259 2 23
Combined oxidative phosphorylation deficiency 27 259 1 7
Congenital Muscular Dystrophy, alpha-dystroglycan related 259 4 1
FLNB-Related Spectrum Disorders 259 1 1
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 259 1 1
3-Methylglutaconic aciduria type 3 258 1 11
Early infantile epileptic encephalopathy 34 258 3 8
Glycogen storage disease of heart, lethal congenital 258 3 4
Hereditary nonpolyposis colorectal cancer type 4 258 2 23
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 258 1 2
Spherocytosis type 3 258 2 9
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 257 1 2
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 256 5 17
Danon disease 254 2 13
Diabetes mellitus, neonatal, with congenital hypothyroidism 254 1 5
Autosomal recessive osteopetrosis 1 253 1 21
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 253 2 1
Hermansky-Pudlak syndrome 253 13 7
Spastic paraplegia 49, autosomal recessive 253 2 9
Autosomal recessive congenital ichthyosis 1 251 4 19
Gray platelet syndrome 251 2 7
Aniridia 1 249 6 18
Arterial tortuosity syndrome 249 1 18
Mental retardation, X-linked 1 249 3 25
Severe X-linked myotubular myopathy 249 3 17
Factor V deficiency 248 1 11
Knobloch syndrome 1 248 3 20
Pineal hyperplasia AND diabetes mellitus syndrome 248 1 6
Surfactant metabolism dysfunction, pulmonary, 3 248 1 14
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 247 4 1
Nephronophthisis 14 247 1 7
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 247 1 12
Autosomal recessive DOPA responsive dystonia 246 5 20
Ductal breast carcinoma 246 255 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 246 1 12
Acromicric dysplasia 245 2 6
Congenital myasthenic syndrome 12 245 2 6
Dilated cardiomyopathy 3B 245 4 12
Herpes simplex encephalitis 1 245 2 4
Mucolipidosis type II; Pseudo-Hurler polydystrophy 245 2 6
Arrhythmogenic right ventricular cardiomyopathy, type 5 244 1 4
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 244 2 16
Dilated Cardiomyopathy, Recessive 244 5 2
Holoprosencephaly sequence 244 15 6
Autosomal dominant polycystic kidney disease 243 8 6
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 243 3 1
Lig4 syndrome 243 1 13
MYH9-related disorder 243 2 3
Shprintzen-Goldberg syndrome 243 4 15
Limb-girdle muscular dystrophy, type 2S 242 1 10
Pyruvate carboxylase deficiency 242 2 19
Stiff skin syndrome 242 2 3
Wagner syndrome 242 1 9
Bardet-Biedl syndrome 1 241 11 34
Charcot-Marie-Tooth disease, axonal, type 2z 241 1 10
Cowden syndrome 241 4 9
Thrombophilia due to thrombin defect 241 3 7
Achondrogenesis, type IA 240 1 7
Charcot-Marie-Tooth Neuropathy X 240 2 1
GLUT1 deficiency syndrome 1, autosomal recessive 240 1 2
Myasthenic syndrome, congenital, 4a, slow-channel 240 3 7
Amelocerebrohypohidrotic syndrome 239 2 11
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 239 1 5
Epileptic encephalopathy, early infantile, 36 239 2 14
Episodic ataxia type 1 239 2 10
Heterotaxy, visceral, 4, autosomal 239 2 9
Ataxia-telangiectasia-like disorder 1 238 1 19
Common variable immunodeficiency 7 238 1 7
Familial X-linked hypophosphatemic vitamin D refractory rickets 238 3 18
Hereditary spastic paraplegia 7 238 2 30
Holoprosencephaly 11 238 1 6
Nail-patella syndrome 238 1 16
Neoplasm of brain 238 15 3
Norman-Roberts syndrome 238 2 11
Arrhythmogenic right ventricular dysplasia, familial, 13 237 2 6
Cholestanol storage disease 237 2 28
Dyskeratosis congenita, autosomal dominant 1 237 9 7
Familial hypercholesterolemia 3 237 2 15
Spastic paraplegia 30, autosomal recessive 237 1 9
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 236 2 1
Vitamin B12-responsive methylmalonic acidemia type cblA 236 1 19
Aortic valve disease 2 235 2 4
Joubert syndrome 21 235 4 12
Multiple exostoses type 2 235 1 13
Pontoneocerebellar hypoplasia 235 11 5
Progressive myoclonus epilepsy with ataxia 235 2 11
Cone-rod dystrophy 6; Leber congenital amaurosis 1 234 2 1
Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 234 1 1
Mucopolysaccharidosis, MPS-II 234 2 23
Nephropathic cystinosis 234 4 13
Vitreoretinopathy 234 6 4
Achromatopsia 3 233 1 14
Deafness, autosomal recessive 2; Usher syndrome type 1 233 1 2
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 233 1 11
Myopathy, centronuclear, 2 233 2 9
von Willebrand disorder 233 1 6
Anophthalmia-microphthalmia syndrome 232 43 3
Autosomal recessive pseudohypoaldosteronism type 1 232 5 7
Dilated cardiomyopathy 1J 232 2 3
GNE myopathy 232 2 25
Multiple endocrine neoplasia, type 2a 232 3 16
Neutral lipid storage myopathy 232 1 9
Congenital disorder of deglycosylation 231 1 13
FG syndrome 1 231 2 10
Familial infantile myasthenia 231 3 11
Loeys-Dietz syndrome 2 231 2 12
Peroxisomal acyl-CoA oxidase deficiency 231 2 13
Familial hemophagocytic lymphohistiocytosis 2 230 3 18
Xeroderma pigmentosum variant type 230 2 13
Acrocallosal syndrome 229 3 14
Cataract 18 229 1 8
Glioblastoma 229 22 4
Hennekam lymphangiectasia-lymphedema syndrome 1 229 2 9
Hermansky-Pudlak syndrome 2 229 2 11
Neural tube defect 229 10 7
Carcinoma of esophagus 228 15 2
Congenital myopathy with fiber type disproportion 228 7 11
Epidermolysis bullosa dystrophica inversa, autosomal recessive 228 2 2
Three M syndrome 2 228 1 12
Greig cephalopolysyndactyly syndrome 227 2 11
Long QT syndrome 3 227 2 17
Mental retardation, autosomal dominant 7 227 4 29
Nemaline myopathy 6 227 2 11
Cone-rod dystrophy 13; Leber congenital amaurosis 6 226 1 2
Deafness, autosomal recessive 1A 226 4 35
Hypokalemic periodic paralysis 1 226 3 14
Isovaleryl-CoA dehydrogenase deficiency 226 1 21
Mucopolysaccharidosis, MPS-IV-A 226 3 20