ClinVar Miner

Variants by condition

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Total conditions: 15392
Total variants: 843273
Total genes and gene combinations: 31972
Total submitters: 1705
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Filter Condition Variants Genes Submitters
not provided 294698 19390 181
not specified 102924 3881 68
Hereditary cancer-predisposing syndrome 67668 129 22
See cases 24802 12578 21
Hereditary breast and ovarian cancer syndrome 10200 56 36
Cardiomyopathy 9806 98 24
Cardiovascular phenotype 8403 131 4
Breast-ovarian cancer, familial 1 8200 17 60
Hereditary nonpolyposis colorectal neoplasms 7878 13 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 6571 2 1
Breast-ovarian cancer, familial 2 6225 7 56
Familial cancer of breast 6003 44 49
Ataxia-telangiectasia syndrome 5754 4 40
Retinitis pigmentosa 4936 135 30
Primary ciliary dyskinesia 4712 54 10
Neurofibromatosis, type 1 4638 22 46
Familial thoracic aortic aneurysm and aortic dissection 4582 34 15
History of neurodevelopmental disorder 4571 184 1
Familial adenomatous polyposis 1 4218 3 29
Hypertrophic cardiomyopathy 3724 108 22
Long QT syndrome 3590 137 18
Tuberous sclerosis 2 3451 11 30
Fanconi anemia 3373 29 7
Colorectal cancer, susceptibility to, 12 3263 1 9
Inborn genetic diseases 3205 1030 1
Charcot-Marie-Tooth disease 3196 84 9
Early infantile epileptic encephalopathy 3083 38 10
Familial hypercholesterolemia 3070 8 7
Retinal dystrophy 3028 183 11
Familial hypercholesterolemia 1 3010 14 59
Lynch syndrome 2764 17 17
Leigh syndrome 2739 56 29
Nemaline myopathy 2 2369 3 24
Tuberous sclerosis syndrome 2345 3 9
Duchenne muscular dystrophy 2123 7 27
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2105 1 8
Gastrointestinal stromal tumor 2097 17 14
Brugada syndrome 1931 39 18
Charcot-Marie-Tooth disease type 4 1918 23 4
Dilated cardiomyopathy 1G 1893 3 16
Tibial muscular dystrophy 1840 2 10
Charcot-Marie-Tooth disease, type 2 1832 20 3
Limb-girdle muscular dystrophy, type 2J 1828 2 14
Myopathy, early-onset, with fatal cardiomyopathy 1827 2 6
Myopathy, myofibrillar, 9, with early respiratory failure 1827 2 7
Gorlin syndrome 1824 7 21
Bethlem myopathy 1 1801 7 17
Baller-Gerold syndrome 1798 1 3
Arrhythmia 1790 10 6
Cystic fibrosis 1771 19 43
Colorectal cancer 10 1769 1 7
Rhabdoid tumor predisposition syndrome 2 1748 1 8
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 1739 2 2
Familial cancer of breast; Fanconi anemia, complementation group J 1679 2 2
Spastic paraplegia 1667 32 6
Epileptic encephalopathy 1656 51 15
Catecholaminergic polymorphic ventricular tachycardia 1633 10 10
Tramadol response 1610 13 1
Marfan syndrome 1553 17 51
Seizures 1538 175 15
Hereditary diffuse gastric cancer 1517 3 22
Tuberous sclerosis 1 1511 6 24
RYR1-Related Disorders 1469 1 3
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 1437 3 1
Intellectual disability 1426 455 48
Alstrom syndrome 1402 1 33
Neuroblastoma 3 1395 2 11
Juvenile polyposis syndrome 1357 7 19
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 1357 1 1
Cohen syndrome 1314 4 42
Bardet-Biedl syndrome 1282 36 21
Microcephaly, normal intelligence and immunodeficiency 1272 3 16
Oligodontia-colorectal cancer syndrome 1259 2 6
Werner syndrome 1236 2 12
Bloom syndrome 1227 2 25
Primary dilated cardiomyopathy 1204 88 25
Rasopathy 1193 21 10
Autosomal recessive polycystic kidney disease 1156 7 39
Ehlers-Danlos syndrome, classic type 1143 11 23
COLORECTAL CANCER 1115 17 8
Neuronal ceroid lipofuscinosis 1103 13 6
Renal cell carcinoma, papillary, 1 1101 22 8
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1082 1 9
Li-Fraumeni syndrome 1078 4 11
Multiple endocrine neoplasia, type 2 1011 3 4
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 1002 3 2
Peutz-Jeghers syndrome 965 6 17
Fanconi anemia, complementation group A 961 17 27
Glycogen storage disease, type II 957 3 41
Alport syndrome 1, X-linked recessive 934 4 32
Mitochondrial complex II deficiency; Paragangliomas 5 927 1 1
MYH-associated polyposis 914 3 22
Ehlers-Danlos syndrome, type 4 907 5 31
PTEN hamartoma tumor syndrome 906 6 13
Spastic paraplegia 11, autosomal recessive 906 4 26
Congenital long QT syndrome 905 10 3
Retinoblastoma 903 18 13
Nephronophthisis 893 20 6
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 883 2 1
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 882 1 1
Laminin alpha 2-related dystrophy 857 1 4
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 847 2 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 842 4 1
Multiple endocrine neoplasia, type 1 837 2 21
Qualitative or quantitative defects of dysferlin 819 1 5
CHARGE association 812 10 48
Adams-Oliver syndrome 5 809 4 8
Perlman syndrome 799 3 5
Congenital contractural arachnodactyly 776 1 25
Prostate cancer, hereditary, 1 764 2 2
Hereditary Paraganglioma-Pheochromocytoma Syndromes 752 10 9
Non-ketotic hyperglycinemia 751 6 26
Collagen VI-related myopathy 738 4 3
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 735 2 1
Glycogen storage disease type III 730 1 21
Mitochondrial complex I deficiency, nuclear type 1 730 28 9
Wilson disease 729 3 43
Charcot-Marie-Tooth disease, axonal, type 2O 721 2 9
Rare genetic deafness 720 69 2
Progressive sclerosing poliodystrophy 717 4 14
Multiple fibrofolliculomas 716 1 17
Joubert syndrome; Meckel-Gruber syndrome 715 9 1
Hereditary cutaneous melanoma 697 5 2
Beckwith-Wiedemann syndrome 690 8 10
Tumor susceptibility linked to germline BAP1 mutations 685 7 10
Fanconi anemia, complementation group O 679 1 8
Maple syrup urine disease 669 5 27
Malignant tumor of prostate 663 454 11
Phenylketonuria 663 2 42
Primary pulmonary hypertension 659 11 9
Very long chain acyl-CoA dehydrogenase deficiency 659 3 29
Dyskeratosis congenita 656 16 7
Primary familial hypertrophic cardiomyopathy 653 75 11
Neoplasm of the breast 652 35 11
Chédiak-Higashi syndrome 644 1 15
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 644 2 3
Bare lymphocyte syndrome 2 640 5 11
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 640 1 4
Romano-Ward syndrome 631 15 4
Aortic aneurysm, familial thoracic 4 630 6 21
Epilepsy, focal, with speech disorder and with or without mental retardation 620 4 31
Severe myoclonic epilepsy in infancy 620 6 33
Pitt-Hopkins-like syndrome 1 609 4 11
Neurofibromatosis, type 2 607 1 14
Early myoclonic encephalopathy 603 3 8
Spinocerebellar ataxia, autosomal recessive 8 600 2 17
Hyperkalemic Periodic Paralysis Type 1 598 3 5
Fumarase deficiency 596 3 12
Myasthenic syndrome, congenital, 8 596 3 12
Citalopram response 595 2 1
Escitalopram response 595 2 1
Sertraline response 595 2 1
Voriconazole response 595 2 1
Charlevoix-Saguenay spastic ataxia 587 2 29
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 587 1 2
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 580 1 1
Breast-ovarian cancer, familial 4 578 4 9
Ellis-van Creveld syndrome 577 6 17
Aortic aneurysm, familial thoracic 7 575 1 19
Rett syndrome 571 6 50
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 569 4 1
Charcot-Marie-Tooth disease, type 4C 566 2 17
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 566 29 4
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 564 1 11
Lynch syndrome I 564 7 27
Osteogenesis imperfecta type I 563 3 20
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 558 2 6
Weill-Marchesani syndrome 557 4 2
Polycystic kidney disease, adult type 556 9 32
Early infantile epileptic encephalopathy 12 552 3 10
Fraser syndrome 1 546 3 16
Autosomal dominant nocturnal frontal lobe epilepsy 543 9 3
Familial hypertrophic cardiomyopathy 14 539 4 6
Progressive myoclonic epilepsy 538 9 2
Acute myeloid leukemia 536 37 18
Limb-Girdle Muscular Dystrophy, Recessive 535 13 1
SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 534 1 2
Mononeuropathy of the median nerve, mild 533 2 2
Dilated cardiomyopathy 1DD 531 3 18
Central core myopathy 523 2 23
Malignant hyperthermia, susceptibility to, 1 523 3 16
Limb-girdle muscular dystrophy, type 2A 520 1 29
Arrhythmogenic right ventricular cardiomyopathy, type 9 519 13 23
Familial platelet disorder with associated myeloid malignancy 519 3 12
Connective tissue disease 518 30 4
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 515 3 3
Disorders of Intracellular Cobalamin Metabolism 513 6 1
Spinocerebellar Ataxia, Dominant 512 9 1
Dilated Cardiomyopathy, Dominant 510 39 2
Pitt-Hopkins-like syndrome 2 510 4 11
Jeune thoracic dystrophy 503 28 5
Joubert syndrome 503 42 14
Niemann-Pick disease type C1 491 6 34
Cornelia de Lange syndrome 1 489 5 29
Usher syndrome type 1 487 12 18
Glucose-6-phosphate transport defect 485 3 11
Microcephalic osteodysplastic primordial dwarfism type II 485 1 20
Melanoma, cutaneous malignant, susceptibility to, 10 484 1 2
Schwartz-Jampel syndrome 484 2 10
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 482 2 4
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 481 1 3
Common variable immunodeficiency 8, with autoimmunity 480 3 12
Arrhythmogenic right ventricular cardiomyopathy 478 43 15
Charcot-Marie-Tooth disease, type I 477 25 5
Usher syndrome, type 2A; Retinitis pigmentosa 39 470 2 3
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 469 3 1
Von Hippel-Lindau syndrome 468 2 21
Ciliary dyskinesia, primary, 3 467 2 19
Pheochromocytoma 466 14 13
Lethal Kniest-like syndrome 463 2 5
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 461 1 2
Monogenic diabetes 461 40 3
Retinitis Pigmentosa, Recessive 459 37 1
Primary autosomal recessive microcephaly 5 457 1 22
Propionic acidemia 454 4 27
Usher syndrome, type 2C 453 1 18
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 452 2 1
Immunodeficiency 26 with or without neurologic abnormalities 452 1 5
Alport syndrome 449 4 4
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 448 2 3
Hereditary nonpolyposis colorectal cancer type 5 442 2 18
Kleefstra syndrome 1 441 7 22
Growth delay due to insulin-like growth factor I resistance 438 2 9
Ovarian Neoplasms 436 30 2
Pancreatic adenocarcinoma 436 18 2
Familial hypertrophic cardiomyopathy 1 433 30 29
Minicore myopathy 432 1 6
Occult macular dystrophy 432 1 6
Hereditary nonpolyposis colorectal cancer type 7 426 3 5
Parathyroid carcinoma 426 3 6
Breast and/or ovarian cancer 424 7 3
Noonan syndrome 424 20 18
Renal carnitine transport defect 423 5 28
Neoplasm of the large intestine 420 34 2
Mitochondrial complex IV deficiency 419 33 14
Walker-Warburg congenital muscular dystrophy 418 7 4
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 417 3 1
Ehlers-Danlos syndrome dermatosparaxis type 417 2 11
Junctional epidermolysis bullosa gravis of Herlitz 417 4 10
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 416 1 2
Donnai-Barrow syndrome 415 2 14
Familial Mediterranean fever 415 1 25
Spastic paraplegia 48, autosomal recessive 415 2 7
Kabuki syndrome 1 414 8 50
Ellis-van Creveld syndrome; Curry-Hall syndrome 413 3 3
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 410 4 1
Arrhythmogenic right ventricular cardiomyopathy, type 10 409 2 7
Dystonia 408 22 8
Deafness, autosomal recessive 12 407 5 12
Hereditary factor VIII deficiency disease 405 3 15
Wilms tumor 1 404 4 7
Deafness, autosomal recessive 3 400 2 27
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 399 2 25
Lung adenocarcinoma 398 39 6
Metachromatic leukodystrophy 398 4 29
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 397 4 14
Usher syndrome type 1D 397 6 12
Congenital disorder of glycosylation 395 41 6
Dilated cardiomyopathy 1KK 394 1 12
Age-related macular degeneration 1 391 2 4
Mucopolysaccharidosis type 6 390 2 20
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 388 1 18
Peroxisome biogenesis disorder 1A (Zellweger) 388 16 20
Brugada syndrome 8 385 2 5
Pseudoxanthoma elasticum 385 5 14
Adrenoleukodystrophy 383 3 26
Stargardt disease 1 383 4 25
Galactosylceramide beta-galactosidase deficiency 381 3 30
Rigidity and multifocal seizure syndrome, lethal neonatal 379 1 9
Squamous cell carcinoma of the head and neck 379 33 5
Epileptic encephalopathy, childhood-onset 378 1 21
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 373 3 14
Fabry disease 371 4 28
Lethal multiple pterygium syndrome 371 6 8
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 370 2 7
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 369 1 5
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 369 1 3
Mowat-Wilson syndrome 364 4 31
Spastic paraplegia 4, autosomal dominant 363 7 28
Vici syndrome 362 1 20
Adenocarcinoma of stomach 361 33 2
Catecholaminergic polymorphic ventricular tachycardia type 1 361 15 19
Pendred syndrome 361 3 19
Loeys-Dietz syndrome 359 12 9
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 359 1 3
Classic homocystinuria 358 2 23
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 357 2 2
FRASER SYNDROME 2 356 1 6
Craniosynostosis 355 18 6
Hereditary insensitivity to pain with anhidrosis 355 2 11
Epileptic encephalopathy, early infantile, 23 354 1 5
Pitt-Hopkins syndrome 353 2 26
Telangiectasia, hereditary hemorrhagic, type 2 353 1 18
Osteogenesis imperfecta 351 6 15
Renal dysplasia 351 5 8
Enlarged vestibular aqueduct 350 3 16
Familial focal epilepsy with variable foci 350 1 1
Myopathy, proximal, and ophthalmoplegia 349 4 15
Arrhythmogenic right ventricular cardiomyopathy, type 11 348 2 15
Weill-Marchesani syndrome 4 348 1 4
Early infantile epileptic encephalopathy 9 346 2 22
Congenital hyperammonemia, type I 345 1 15
Autism spectrum disorder 343 66 13
Hereditary sensory neuropathy type IE 342 2 5
Mental retardation, autosomal dominant 5 342 5 36
Encephalopathy, acute, infection-induced, 3, suceptibility to 339 2 10
Imerslund-Gräsbeck syndrome 1 339 1 3
Left ventricular noncompaction 8 336 3 4
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 335 3 1
Immunodeficiency 51 334 1 6
Epidermolysis bullosa junctionalis with pyloric atresia 333 4 11
Biotinidase deficiency 332 1 27
Dilated cardiomyopathy 1W 332 2 5
Congenital microvillous atrophy 331 2 9
Familial hemophagocytic lymphohistiocytosis 3 331 2 11
Idiopathic generalized epilepsy 330 6 4
Pyridoxine-dependent epilepsy 329 7 17
Squamous cell lung carcinoma 329 28 4
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 328 2 1
beta Thalassemia 327 6 28
Charcot-Marie-Tooth disease, dominant intermediate B 326 4 6
Familial cold autoinflammatory syndrome 2 326 1 12
EGFR-related lung cancer 325 1 1
Luscan-lumish syndrome 325 1 8
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 324 1 1
Glanzmann thrombasthenia 324 4 10
Multiple endocrine neoplasia, type 4 323 4 13
Gorlin syndrome; Medulloblastoma 321 1 1
Junctional epidermolysis bullosa 321 4 4
Hyperinsulinemic hypoglycemia, familial, 1 320 3 17
Neuromuscular disease, congenital, with uniform type 1 fiber 320 1 2
Emery-Dreifuss muscular dystrophy 319 7 4
Mental retardation, autosomal dominant 1 319 4 17
Parkinson disease 8, autosomal dominant 319 1 11
Autosomal dominant pseudohypoaldosteronism type 1 318 4 8
Deficiency of alpha-mannosidase 318 1 20
Giant axonal neuropathy 1 318 2 11
Alpha thalassemia-X-linked intellectual disability syndrome 316 1 17
Imerslund-Gräsbeck syndrome 316 3 16
Deafness, autosomal recessive 2 315 1 11
Deafness, autosomal recessive 9 315 3 20
Hereditary pancreatitis 314 12 16
Charcot-Marie-Tooth disease axonal type 2C 313 3 10
Kabuki syndrome 311 1 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 310 4 21
Majeed syndrome 308 1 12
Benign familial neonatal seizures 307 2 3
Hereditary hemorrhagic telangiectasia type 1 307 4 23
Hyperphosphatasia with mental retardation syndrome 2 306 2 8
Lynch syndrome II 305 1 18
Brittle cornea syndrome 1 303 2 10
Myofibrillar myopathy, ZASP-related 303 2 6
Ehlers-Danlos syndrome, type 7A 301 4 1
Corneal dystrophy 299 6 3
Dilated cardiomyopathy 1JJ 299 1 10
Neuroblastoma 299 30 7
Rubinstein-Taybi syndrome 1 299 3 30
Familial dysautonomia 298 1 17
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 296 1 3
Medium-chain acyl-coenzyme A dehydrogenase deficiency 296 2 23
Familial hypercholesterolemia 2 295 3 12
Dilated cardiomyopathy 1O 294 1 5
Leukocyte adhesion deficiency 1 294 1 7
Succinate-semialdehyde dehydrogenase deficiency 294 2 16
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 293 1 5
Hereditary hemorrhagic telangiectasia 293 3 2
Brugada syndrome 1 292 8 18
Carney complex, type 1 292 2 6
Short-rib thoracic dysplasia 3 with or without polydactyly 292 6 17
Angelman syndrome 290 11 21
Charcot-Marie-Tooth disease type 2P 290 1 12
Primary hyperoxaluria, type I 290 2 19
Smith-Lemli-Opitz syndrome 290 2 35
Usher syndrome type 1F 290 2 9
Usher syndrome, type 2A 289 3 32
Arrhythmogenic right ventricular dysplasia, familial, 2 288 1 9
Ehlers-Danlos syndrome, hydroxylysine-deficient 288 3 10
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 288 1 11
Citrullinemia type I 287 2 27
Fibrous dysplasia of jaw 287 2 9
Hypobetalipoproteinemia, familial, 1 287 3 8
Malignant neoplasm of body of uterus 287 25 1
Polyglandular autoimmune syndrome, type 1 287 2 14
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 286 2 1
Hereditary pyropoikilocytosis 286 3 4
Bare lymphocyte syndrome type 1 285 5 4
Macular degeneration 285 16 2
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 284 1 2
Glycogen storage disease, type V 284 1 20
Oculotrichoanal syndrome 284 1 3
Severe neonatal-onset encephalopathy with microcephaly 284 10 10
Histiocytic medullary reticulosis 282 5 5
Holt-Oram syndrome 282 3 15
Iodotyrosyl coupling defect 282 2 12
Tay-Sachs disease 281 2 29
Epilepsy 280 50 11
Focal cortical dysplasia type II 280 3 6
Malignant melanoma of skin 280 37 2
Microcephaly 280 214 6
Multiple congenital exostosis 279 1 7
Progressive familial heart block type IB 279 2 12
Hereditary spastic paraplegia 15 278 1 15
Koolen-de Vries syndrome 278 5 19
Ataxia-telangiectasia-like disorder 277 2 2
Dystonia 12 277 1 8
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 277 4 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 277 2 12
Hepatocellular carcinoma 276 26 7
Leukoencephalopathy with vanishing white matter 276 8 20
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 276 1 2
Transitional cell carcinoma of the bladder 276 27 1
Alport syndrome, autosomal recessive 273 3 21
Glutaric aciduria, type 1 273 3 26
Hereditary spastic paraplegia 39 272 2 8
Congenital muscular dystrophy due to partial LAMA2 deficiency 271 1 4
Sotos syndrome 1 271 1 23
Tangier disease 271 2 5
Familial hypertrophic cardiomyopathy 4 267 5 29
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 267 1 2
Tyrosine kinase 2 deficiency 267 1 5
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 266 1 3
Deafness, autosomal dominant 11 266 1 12
Hereditary sensory and autonomic neuropathy type IC 266 2 9
Left ventricular noncompaction cardiomyopathy 266 38 7
Permanent neonatal diabetes mellitus 265 9 7
Deafness, autosomal recessive 77 264 1 18
Legius syndrome 264 2 13
Severe combined immunodeficiency due to DCLRE1C deficiency 264 4 4
Long QT syndrome 1 263 15 34
Mucopolysaccharidosis, MPS-III-A 263 3 21
Fanconi anemia, complementation group J 262 1 11
Cardiac arrhythmia, ankyrin B-related 261 1 15
Elliptocytosis 2 261 2 5
Fanconi anemia, complementation group P 261 1 9
Epileptic encephalopathy, early infantile, 30 260 2 4
Familial hypoalphalipoproteinemia 260 2 2
Loeys-Dietz syndrome 4 260 5 16
Netherton syndrome 260 1 14
Benign familial neonatal seizures 2 259 2 17
Congenital Muscular Dystrophy, alpha-dystroglycan related 259 4 1
Leprechaunism syndrome 259 1 6
Congenital myasthenic syndrome 258 17 9
FLNB-Related Spectrum Disorders 258 1 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 258 1 5
Joubert syndrome 17 257 2 16
Dystrophic epidermolysis bullosa 256 1 4
Merosin deficient congenital muscular dystrophy 254 1 27
Multiple acyl-CoA dehydrogenase deficiency 254 4 18
3-Methylglutaconic aciduria type 3 253 1 7
Holocarboxylase synthetase deficiency 253 2 13
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 252 5 18
Spherocytosis type 3 252 2 7
Congenital disorder of glycosylation, type Ia 251 2 34
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 251 2 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 250 3 28
Diabetes mellitus, neonatal, with congenital hypothyroidism 250 1 4
Osteogenesis imperfecta type 7 250 2 11
Aniridia 1 248 6 16
Cutaneous malignant melanoma 5 248 2 5
Familial cold autoinflammatory syndrome 3 248 1 3
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 248 2 9
Choreoacanthocytosis 247 1 10
Factor V deficiency 247 1 8
Gamma-aminobutyric acid transaminase deficiency 247 3 6
Pineal hyperplasia AND diabetes mellitus syndrome 247 1 5
Ductal breast carcinoma 246 255 2
Neuronal ceroid lipofuscinosis 1 246 1 24
Hereditary nonpolyposis colorectal cancer type 4 245 2 20
Leber congenital amaurosis 245 48 16
Mucopolysaccharidosis type 1 245 2 10
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 245 1 9
Congenital central hypoventilation 244 8 7
Acromicric dysplasia 243 2 4
Knobloch syndrome 1 243 3 19
MYH9-related disorder 243 2 3
Pityriasis rubra pilaris; Psoriasis susceptibility 2 243 2 2
Spherocytosis type 1 243 1 9
Carnitine palmitoyltransferase II deficiency 242 2 8
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 242 2 6
Mosaic variegated aneuploidy syndrome 242 3 2
Stiff skin syndrome 242 2 3
Stüve-Wiedemann syndrome 242 3 10
Blau syndrome; Inflammatory bowel disease 1 241 1 1
Fanconi anemia, complementation group C 241 2 13
Gastrointestinal stromal tumor; Paragangliomas 3 241 3 1
Venous thrombosis 241 3 7
Wagner syndrome 239 1 7
Holoprosencephaly sequence 238 15 5
Surfactant metabolism dysfunction, pulmonary, 3 238 1 10
Neoplasm of brain 237 14 2
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 237 1 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 237 1 11
Alagille syndrome 1 236 3 16
Familial hypokalemia-hypomagnesemia 236 2 27
Heterotaxy, visceral, 4, autosomal 235 2 8
Supravalvar aortic stenosis 235 2 7
Familial X-linked hypophosphatemic vitamin D refractory rickets 234 3 15
Finnish congenital nephrotic syndrome 234 6 28
Nail-patella syndrome 234 1 13
Vitreoretinopathy 234 6 4
Ataxia-telangiectasia-like disorder 1 233 1 18
Danon disease 233 2 10
Familial hemiplegic migraine 233 4 3
Mental retardation, autosomal recessive 53 233 2 5
Nephropathic cystinosis 233 4 10
Pontoneocerebellar hypoplasia 233 10 4
von Willebrand disorder 233 1 5
Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 232 3 1
Congenital muscular hypertrophy-cerebral syndrome 232 2 24
Congenital myasthenic syndrome 12 232 2 5
Autosomal recessive pseudohypoaldosteronism type 1 231 5 6
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 231 1 13
Deafness, autosomal recessive 2; Usher syndrome type 1 231 1 1
Multiple endocrine neoplasia, type 2a 231 3 14
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 230 2 14
Severe X-linked myotubular myopathy 230 3 11
Spastic paraplegia 30, autosomal recessive 230 1 8
Arterial tortuosity syndrome 229 1 14
Brody myopathy 229 3 6
Glioblastoma 229 22 4
Neural tube defect 229 10 7
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 229 9 7
Achromatopsia 3 228 1 10
Carcinoma of esophagus 228 15 2
Xeroderma pigmentosum variant type 228 1 12
Biotin-responsive basal ganglia disease 227 2 21
Dilated cardiomyopathy 3B 227 4 10
Greig cephalopolysyndactyly syndrome 227 2 11
Norman-Roberts syndrome 227 2 9
Gray platelet syndrome 226 2 6
Hennekam lymphangiectasia-lymphedema syndrome 1 226 2 8
Holoprosencephaly 11 226 1 4
Epidermodysplasia verruciformis 225 3 1
Long QT syndrome 3 225 2 15
Multiple gastrointestinal atresias 225 2 10
Neuronal ceroid lipofuscinosis 7 225 3 15
Ovarian Serous Cystadenocarcinoma 225 9 1
Pyruvate carboxylase deficiency 225 1 15
Agenesis of the corpus callosum with peripheral neuropathy 224 3 13
Premature ovarian failure 224 168 4
Cataract 18 223 1 6
Paroxysmal extreme pain disorder 223 2 4
Peroxisomal acyl-CoA oxidase deficiency 223 2 9
Thyroid dyshormonogenesis 6 221 1 14
Achondrogenesis, type IA 220 1 6
Deafness, autosomal dominant 4 220 1 8
Maturity-onset diabetes of the young, type 2 220 1 17
Polycystic kidney disease, autosomal dominant 220 8 5
Epilepsy, hearing loss, and mental retardation syndrome 219 1 9
Fanconi anemia, complementation group D1 219 2 5
Meningioma, familial 219 3 4
Multiple epiphyseal dysplasia type 4 219 1 8
Posterior column ataxia-retinitis pigmentosa syndrome 219 3 7
Mucolipidosis type II 218 2 13
Paramyotonia congenita of von Eulenburg 218 2 6
Episodic ataxia type 1 217 1 9
Hereditary spastic paraplegia 7 217 2 26
Renal cysts and diabetes syndrome 217 1 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 217 1 10
Anauxetic dysplasia 216 3 1
Deafness, autosomal recessive 1A 216 4 29
Hypokalemic periodic paralysis 1 216 3 11
Myhre syndrome 216 1 12
WFS1-Related Spectrum Disorders 216 1 2
ABCA4-Related Disorders 215 1 2
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 215 1 1
Myasthenic syndrome, congenital, 4a, slow-channel 215 3 6
Three M syndrome 2 215 1 9
Cholestanol storage disease 214 2 22
Familial hypercholesterolemia 3 214 2 13
Platelet-type bleeding disorder 9 214 2 2
KBG syndrome 213 4 34
Qualitative or quantitative defects of delta-sarcoglycan 213 1 1
Retinitis pigmentosa 12; Leber congenital amaurosis 8 213 2 1
Charcot-Marie-Tooth Neuropathy X 212 2 1
Glycogen storage disease of heart, lethal congenital 212 2 4
Hyperaldosteronism, familial, type I 212 4 2
Hypogonadotropic hypogonadism 5 with or without anosmia 212 2 8
Immunodeficiency 40 212 1 3
Potassium-aggravated myotonia 212 2 4
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 211 1 1
Hydatidiform mole, recurrent, 1 211 3 9
Steinert myotonic dystrophy syndrome 211 5 11
Vitamin B12-responsive methylmalonic acidemia type cblA 211 1 14
Alpha-1-antitrypsin deficiency 210 1 22
Arterial calcification, generalized, of infancy, 1 210 1 8
Frank-Ter Haar syndrome 210 1 7
Hereditary factor XI deficiency disease 210 2 12
Neutral lipid storage myopathy 209 1 7
Niemann-Pick disease, type A 209 2 18
Autosomal dominant nonsyndromic deafness 6 208 1 8
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 208 1 4
Hypokalemic periodic paralysis, type 2 208 2 4
Irido-corneo-trabecular dysgenesis 208 12 4
Isovaleryl-CoA dehydrogenase deficiency 208 1 16
Mucolipidosis type II; Pseudo-Hurler polydystrophy 208 2 5
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 208 1 2
Shprintzen-Goldberg syndrome 208 4 14
Multiple exostoses type 2 207 1 9
Polydactyly 207 3 2
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 207 1 10
Budd-Chiari syndrome 206 3 1
Congenital myasthenic syndrome, acetazolamide-responsive 206 2 4
Deficiency of acetyl-CoA acetyltransferase 206 2 14
Dilated cardiomyopathy 1J 206 2 3
Familial hemophagocytic lymphohistiocytosis 2 206 2 16
Glaucoma 3, primary congenital, d 206 1 2
Long QT syndrome 2 206 7 23
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 205 3 1
Epilepsy, familial focal, with variable foci 3 205 2 5
Nonsyndromic Hearing Loss, Recessive 205 34 2
Junctional epidermolysis bullosa, non-Herlitz type 204 5 12
Thyroid hormone resistance, generalized, autosomal dominant 204 1 7
Cystinuria 203 5 22
GLUT1 deficiency syndrome 1, autosomal recessive 203 1 2
GNE myopathy 203 2 21
Amyotrophic lateral sclerosis type 4 202 1 6
Cowden syndrome 202 4 8
Diastrophic dysplasia 202 1 8
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 202 2 1
Spherocytosis 202 1 1
Lig4 syndrome 201 1 10
Nemaline myopathy 6 201 2 9
Pallister-Hall syndrome 201 1 4
Porencephaly 2 201 2 11
Primary erythromelalgia 201 2 7
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 201 1 2
Craniometaphyseal dysplasia, autosomal dominant 200 3 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 200 1 24
Lethal acantholytic epidermolysis bullosa 200 1 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 200 2 1
Miyoshi myopathy 200 2 1
Pseudohypoaldosteronism type 2C 200 2 4
Argininosuccinate lyase deficiency 199 2 24
Autosomal dominant nonsyndromic deafness 17 199 1 4
Autosomal recessive centronuclear myopathy 199 2 8
Cerebral cavernous malformation 199 8 15
Charcot-Marie-Tooth disease, axonal, type 2z