ClinVar Miner

Variants by condition

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total conditions: 13689
Total variants: 785694
Total genes and gene combinations: 31795
Total submitters: 1577
Download table as spreadsheet
Filter Condition Variants Genes Submitters
not provided 284233 19338 173
not specified 99608 3839 65
Hereditary cancer-predisposing syndrome 62246 128 21
See cases 24706 12539 21
Hereditary breast and ovarian cancer syndrome 9099 45 34
Cardiovascular phenotype 8403 131 4
Breast-ovarian cancer, familial 1 8195 17 57
Hereditary nonpolyposis colon cancer 6937 13 2
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 6226 2 1
Breast-ovarian cancer, familial 2 6220 7 49
Familial cancer of breast 5455 44 48
Ataxia-telangiectasia syndrome 5085 4 34
Retinitis pigmentosa 4647 129 26
History of neurodevelopmental disorder 4571 184 1
Hypertrophic cardiomyopathy 4472 100 22
Primary ciliary dyskinesia 4247 44 9
Cardiomyopathy 4063 98 22
Neurofibromatosis, type 1 4043 22 40
Familial adenomatous polyposis 1 3697 3 24
Long QT syndrome 3316 137 18
Inborn genetic diseases 3204 1031 1
Retinal dystrophy 3028 183 11
Tuberous sclerosis 2 3024 11 25
Familial hypercholesterolemia 1 2988 14 53
Colorectal cancer, susceptibility to, 12 2899 1 8
Lynch syndrome 2898 18 17
Fanconi anemia 2847 29 7
Leigh syndrome 2724 55 27
Early infantile epileptic encephalopathy 2556 38 9
Tuberous sclerosis syndrome 2346 3 9
Brugada syndrome 2189 37 17
Familial thoracic aortic aneurysm and aortic dissection 2129 33 13
Nemaline myopathy 2 2111 3 23
Dilated cardiomyopathy 1G 1894 3 15
Duchenne muscular dystrophy 1877 6 23
Gastrointestinal stromal tumor 1874 16 14
Tibial muscular dystrophy 1840 2 10
Myopathy, early-onset, with fatal cardiomyopathy 1827 2 6
Myopathy, myofibrillar, 9, with early respiratory failure 1827 2 6
Limb-girdle muscular dystrophy, type 2J 1825 2 13
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 1722 1 5
Cystic fibrosis 1690 19 41
Charcot-Marie-Tooth disease, type 2 1638 20 3
Charcot-Marie-Tooth disease type 4 1628 23 4
Tramadol response 1610 13 1
Colorectal cancer 10 1599 1 7
Gorlin syndrome 1596 7 18
Rhabdoid tumor predisposition syndrome 2 1593 1 8
Baller-Gerold syndrome 1564 1 3
Marfan syndrome 1550 16 47
Bethlem myopathy 1 1532 7 15
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 1497 2 2
Familial cancer of breast; Fanconi anemia, complementation group J 1459 2 2
Epileptic encephalopathy 1448 49 15
Catecholaminergic polymorphic ventricular tachycardia 1434 10 9
Spastic paraplegia 1429 32 6
Seizures 1400 82 12
Charcot-Marie-Tooth disease 1383 77 9
Hereditary diffuse gastric cancer 1338 2 18
Tuberous sclerosis 1 1300 6 19
Alstrom syndrome 1281 1 29
RYR1-Related Disorders 1272 1 3
Juvenile polyposis syndrome 1242 6 16
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 1227 3 1
Neuroblastoma 3 1199 2 11
Familial hypercholesterolemia 1194 7 5
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 1160 1 1
Primary dilated cardiomyopathy 1139 88 24
Microcephaly, normal intelligence and immunodeficiency 1134 3 15
Oligodontia-colorectal cancer syndrome 1120 2 6
COLORECTAL CANCER 1118 17 8
Cohen syndrome 1100 4 37
Autosomal recessive polycystic kidney disease 1080 6 35
Bloom syndrome 1048 2 22
Werner syndrome 1045 2 11
Ehlers-Danlos syndrome, classic type 1036 11 22
Rasopathy 1034 19 10
Dilated Cardiomyopathy, Dominant 1023 39 2
Renal cell carcinoma, papillary, 1 981 22 8
Li-Fraumeni syndrome 970 4 10
Bardet-Biedl syndrome 955 35 20
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 953 1 9
Alport syndrome 1, X-linked recessive 925 4 28
Neuronal ceroid lipofuscinosis 925 13 6
Congenital long QT syndrome 902 10 3
Peutz-Jeghers syndrome 902 6 17
Multiple endocrine neoplasia, type 2 887 3 4
Ehlers-Danlos syndrome, type 4 857 5 26
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 842 3 2
MYH-associated polyposis 823 3 20
PTEN hamartoma tumor syndrome 818 6 10
Glycogen storage disease, type II 810 3 35
Retinoblastoma 798 18 12
Spastic paraplegia 11, autosomal recessive 796 4 23
Mitochondrial complex II deficiency; Paragangliomas 5 785 1 1
Severe myoclonic epilepsy in infancy 767 7 30
Prostate cancer, hereditary, 1 764 2 2
Primary pulmonary hypertension 756 11 9
CHARGE association 754 10 46
Multiple endocrine neoplasia, type 1 739 2 18
Collagen VI-related myopathy 737 4 3
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 736 2 1
Adams-Oliver syndrome 5 734 4 8
Mitochondrial complex I deficiency, nuclear type 1 730 28 8
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 727 2 1
Neoplasm of the breast 723 35 11
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 719 4 1
Rare genetic deafness 712 69 2
Laminin alpha 2-related dystrophy 709 1 3
Congenital contractural arachnodactyly 708 1 22
Qualitative or quantitative defects of dysferlin 704 1 4
Perlman syndrome 690 3 5
Wilson disease 676 3 40
Non-ketotic hyperglycinemia 673 6 25
Hereditary Paraganglioma-Pheochromocytoma Syndromes 667 10 9
Malignant tumor of prostate 662 454 10
Nephronophthisis 656 18 5
Progressive sclerosing poliodystrophy 655 4 14
Charcot-Marie-Tooth disease, axonal, type 2O 647 2 7
Romano-Ward syndrome 640 14 3
Multiple fibrofolliculomas 637 1 17
Primary familial hypertrophic cardiomyopathy 635 75 11
Maple syrup urine disease 620 5 24
Glycogen storage disease type III 616 1 19
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 616 2 1
Fanconi anemia, complementation group O 606 1 7
Spinocerebellar ataxia, autosomal recessive 8 599 2 16
Hereditary cutaneous melanoma 598 5 2
Citalopram response 595 2 1
Escitalopram response 595 2 1
Sertraline response 595 2 1
Voriconazole response 595 2 1
Aortic aneurysm, familial thoracic 4 593 6 20
Phenylketonuria 593 2 40
Tumor susceptibility linked to germline BAP1 mutations 593 8 9
Pheochromocytoma 592 14 12
Beckwith-Wiedemann syndrome 591 8 9
Charlevoix-Saguenay spastic ataxia 582 2 28
Congenital disorder of glycosylation 582 43 6
Ellis-van Creveld syndrome 575 6 16
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 566 29 4
Charcot-Marie-Tooth disease, type 4C 565 2 15
Dyskeratosis congenita 564 16 7
Rett syndrome 560 5 43
Lynch syndrome I 559 7 23
Chédiak-Higashi syndrome 557 1 14
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 557 2 5
Weill-Marchesani syndrome 557 4 2
Bare lymphocyte syndrome 2 555 5 10
Epilepsy, focal, with speech disorder and with or without mental retardation 552 4 26
Pitt-Hopkins-like syndrome 1 541 4 8
Neurofibromatosis, type 2 540 1 14
Fanconi anemia, complementation group A 537 15 24
Limb-Girdle Muscular Dystrophy, Recessive 536 13 1
Arrhythmogenic right ventricular cardiomyopathy 534 43 15
Joubert syndrome; Meckel-Gruber syndrome 534 9 1
Mononeuropathy of the median nerve, mild 533 2 2
Hyperkalemic Periodic Paralysis Type 1 530 3 4
Aortic aneurysm, familial thoracic 7 529 1 18
Central core myopathy 523 2 22
Malignant hyperthermia, susceptibility to, 1 522 2 14
Polycystic kidney disease, adult type 518 8 28
Disorders of Intracellular Cobalamin Metabolism 513 6 1
Spinocerebellar Ataxia, Dominant 512 9 1
Connective tissue disease 511 28 3
Myasthenic syndrome, congenital, 8 511 3 11
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 511 2 3
Fraser syndrome 1 510 3 15
Breast-ovarian cancer, familial 4 506 4 7
Fumarase deficiency 506 3 11
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 502 1 3
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 497 1 1
Osteogenesis imperfecta type I 491 3 19
Acute myeloid leukemia 486 36 14
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 485 4 1
Schwartz-Jampel syndrome 483 2 9
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 481 1 11
Microcephalic osteodysplastic primordial dwarfism type II 481 1 17
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 480 1 2
Usher syndrome type 1 480 12 16
Limb-girdle muscular dystrophy, type 2A 479 1 28
Familial hypertrophic cardiomyopathy 14 476 4 6
Early myoclonic encephalopathy 475 3 8
SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 475 1 2
Early infantile epileptic encephalopathy 12 471 3 10
Dilated cardiomyopathy 1DD 470 3 16
Usher syndrome, type 2A; Retinitis pigmentosa 39 470 2 3
Cornelia de Lange syndrome 1 468 5 27
Progressive myoclonic epilepsy 468 9 2
Von Hippel-Lindau syndrome 467 2 20
Lethal Kniest-like syndrome 463 2 5
Ciliary dyskinesia, primary, 3 462 2 16
Niemann-Pick disease type C1 461 5 30
Retinitis Pigmentosa, Recessive 461 37 1
Very long chain acyl-CoA dehydrogenase deficiency 461 3 25
Pitt-Hopkins-like syndrome 2 456 4 10
Jeune thoracic dystrophy 455 28 5
Glucose-6-phosphate transport defect 454 3 10
Arrhythmogenic right ventricular cardiomyopathy, type 9 453 13 23
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 453 1 1
Familial platelet disorder with associated myeloid malignancy 453 3 12
Usher syndrome, type 2C 452 1 17
Primary autosomal recessive microcephaly 5 451 1 21
Autosomal dominant nocturnal frontal lobe epilepsy 447 9 3
Alport syndrome 442 4 3
Hereditary nonpolyposis colorectal cancer type 5 439 2 16
Noonan syndrome 439 19 18
Joubert syndrome 438 38 14
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 437 3 3
Ovarian Neoplasms 436 30 2
Pendred syndrome 434 3 18
Growth delay due to insulin-like growth factor I resistance 433 2 6
Minicore myopathy 432 1 6
Occult macular dystrophy 432 1 6
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 427 1 2
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 426 2 4
Propionic acidemia 426 4 25
Breast and/or ovarian cancer 424 7 3
Neoplasm of the large intestine 420 34 2
Charcot-Marie-Tooth disease, type I 419 25 5
Kleefstra syndrome 1 418 6 17
Mitochondrial complex IV deficiency 417 31 14
Donnai-Barrow syndrome 415 2 14
Pancreatic adenocarcinoma 415 18 2
Junctional epidermolysis bullosa gravis of Herlitz 414 4 10
Kabuki syndrome 411 2 2
Rubinstein-Taybi syndrome 1 407 3 23
Deafness, autosomal recessive 12 406 5 11
Hereditary factor VIII deficiency disease 403 3 15
Lung adenocarcinoma 398 39 6
Nonsyndromic Hearing Loss, Recessive 397 37 2
Spastic paraplegia 48, autosomal recessive 396 2 6
Usher syndrome type 1D 396 5 11
Deafness, autosomal recessive 3 394 2 25
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 394 1 2
Kabuki syndrome 1 394 8 44
Peroxisome biogenesis disorder 1A (Zellweger) 392 16 20
Age-related macular degeneration 1 391 2 4
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 391 2 22
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 390 2 1
Melanoma, cutaneous malignant, susceptibility to, 10 386 1 2
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 385 1 14
Pseudoxanthoma elasticum 384 5 13
Common variable immunodeficiency 8, with autoimmunity 383 3 11
Familial Mediterranean fever 383 1 23
Stargardt disease 1 383 4 24
Parathyroid carcinoma 381 3 6
Mucopolysaccharidosis type 6 380 2 18
Nonsyndromic Hearing Loss, Dominant 380 20 1
Renal carnitine transport defect 380 5 24
Squamous cell carcinoma of the head and neck 380 33 5
Ehlers-Danlos syndrome dermatosparaxis type 379 2 11
Mowat-Wilson syndrome 379 3 25
Familial hypertrophic cardiomyopathy 1 374 22 25
Dystonia 370 22 8
Arrhythmogenic right ventricular cardiomyopathy, type 10 369 2 6
Immunodeficiency 26 with or without neurologic abnormalities 365 1 5
Galactosylceramide beta-galactosidase deficiency 364 3 27
Adenocarcinoma of stomach 361 33 2
Ellis-van Creveld syndrome; Curry-Hall syndrome 360 3 3
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 356 2 3
Loeys-Dietz syndrome 356 12 9
Wilms tumor 1 356 4 7
Catecholaminergic polymorphic ventricular tachycardia type 1 355 15 18
Left ventricular noncompaction cardiomyopathy 355 35 6
Metachromatic leukodystrophy 355 4 24
FRASER SYNDROME 2 351 1 5
Osteogenesis imperfecta 351 6 15
Enlarged vestibular aqueduct 350 3 16
Dilated cardiomyopathy 1KK 349 1 12
Renal dysplasia 349 5 7
Craniosynostosis 348 17 5
Weill-Marchesani syndrome 4 348 1 4
Walker-Warburg congenital muscular dystrophy 347 7 4
Lethal multiple pterygium syndrome 342 6 7
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 341 3 1
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 340 1 5
Autism spectrum disorder 339 64 11
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 337 1 2
Classic homocystinuria 336 2 22
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 336 7 1
Imerslund-Gräsbeck syndrome 1 336 1 2
Adrenoleukodystrophy 334 3 25
Arrhythmia 333 10 6
Pitt-Hopkins syndrome 331 2 22
beta Thalassemia 331 5 25
Congenital microvillous atrophy 330 2 8
Epidermolysis bullosa junctionalis with pyloric atresia 330 4 9
Biotinidase deficiency 328 1 23
Intellectual Disability, Dominant 321 4 1
Spastic paraplegia 4, autosomal dominant 321 7 27
Telangiectasia, hereditary hemorrhagic, type 2 321 1 17
Brugada syndrome 8 320 2 5
Neuromuscular disease, congenital, with uniform type 1 fiber 320 1 2
Intellectual disability 319 134 40
Junctional epidermolysis bullosa 319 4 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 319 3 13
Arrhythmogenic right ventricular cardiomyopathy, type 11 317 2 15
Autosomal dominant pseudohypoaldosteronism type 1 317 4 7
Hyperinsulinemic hypoglycemia, familial, 1 317 3 15
Rigidity and multifocal seizure syndrome, lethal neonatal 317 1 8
Congenital hyperammonemia, type I 316 1 13
Deafness, autosomal recessive 2 316 1 11
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 316 3 1
Deafness, autosomal recessive 9 314 3 19
Hereditary hemorrhagic telangiectasia type 1 313 4 21
Hereditary insensitivity to pain with anhidrosis 312 2 11
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 311 2 7
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 311 1 2
Familial dysautonomia 310 1 17
Parkinson disease 8, autosomal dominant 310 1 10
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 310 4 1
Epileptic encephalopathy, childhood-onset 306 1 18
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 306 1 3
Vici syndrome 305 1 20
Immunodeficiency 51 304 1 6
Brittle cornea syndrome 1 303 2 10
Lynch syndrome II 303 1 17
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 302 2 2
Ehlers-Danlos syndrome, type 7A 301 4 1
Myopathy, proximal, and ophthalmoplegia 301 4 13
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 301 4 13
Corneal dystrophy 299 6 3
Neuroblastoma 299 30 7
Pyridoxine-dependent epilepsy 297 7 16
Giant axonal neuropathy 1 295 2 11
Left ventricular noncompaction 8 295 3 4
Hereditary pancreatitis 294 11 15
Deficiency of alpha-mannosidase 293 1 16
Familial hypercholesterolemia 2 293 3 9
Epidermolysis bullosa simplex due to plakophilin deficiency 291 2 3
Majeed syndrome 291 1 12
Hereditary sensory neuropathy type IE 290 2 5
Primary hyperoxaluria, type I 290 2 17
Short-rib thoracic dysplasia 3 with or without polydactyly 290 6 15
Usher syndrome type 1F 290 2 9
Charcot-Marie-Tooth disease, dominant intermediate B 288 4 6
Dilated cardiomyopathy 1W 288 2 5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 288 3 20
Emery-Dreifuss muscular dystrophy 287 7 4
Encephalopathy, acute, infection-induced, 3, suceptibility to 287 2 10
Familial cold autoinflammatory syndrome 2 287 1 11
Malignant neoplasm of body of uterus 287 25 1
Arrhythmogenic right ventricular dysplasia, familial, 2 286 1 7
Hereditary pyropoikilocytosis 286 2 4
Mental retardation, autosomal dominant 5 286 5 33
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 285 1 1
Macular degeneration 285 16 2
Charcot-Marie-Tooth disease axonal type 2C 284 3 10
Hypobetalipoproteinemia, familial, 1 284 3 6
Idiopathic generalized epilepsy 283 5 3
Megaloblastic anemia due to inborn errors of metabolism 283 3 16
Smith-Lemli-Opitz syndrome 283 2 34
Hereditary sensory and autonomic neuropathy type II 282 5 1
Brugada syndrome 1 281 8 15
Histiocytic medullary reticulosis 281 5 5
Iodotyrosyl coupling defect 281 2 12
Familial hemophagocytic lymphohistiocytosis 3 280 2 11
Malignant melanoma of skin 280 37 2
Oculotrichoanal syndrome 280 1 3
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 279 2 1
Epileptic encephalopathy, early infantile, 23 278 1 5
Focal cortical dysplasia type II 278 3 5
Multiple endocrine neoplasia, type 4 278 4 13
Usher syndrome, type 2A 278 2 31
Hereditary spastic paraplegia 15 277 1 14
Alpha thalassemia-X-linked intellectual disability syndrome 276 1 15
Early infantile epileptic encephalopathy 9 276 2 18
Hepatocellular carcinoma 276 26 7
Transitional cell carcinoma of the bladder 276 27 1
Monogenic diabetes 275 39 2
Benign familial neonatal seizures 274 2 3
Medium-chain acyl-coenzyme A dehydrogenase deficiency 274 2 22
Mental retardation, autosomal dominant 1 274 4 14
MLH3-Related Lynch Syndrome 273 2 1
Angelman syndrome 272 9 19
Gorlin syndrome; Medulloblastoma 272 1 1
Squamous cell lung carcinoma 272 22 3
Congenital muscular dystrophy due to partial LAMA2 deficiency 271 1 4
Tangier disease 271 2 5
Leukoencephalopathy with vanishing white matter 269 7 15
Sotos syndrome 1 267 1 20
Alport syndrome, autosomal recessive 266 3 18
Citrullinemia type I 266 2 25
Succinate-semialdehyde dehydrogenase deficiency 266 2 14
Familial hypertrophic cardiomyopathy 4 265 5 26
Holt-Oram syndrome 265 3 14
Permanent neonatal diabetes mellitus 265 9 7
Deafness, autosomal dominant 11 264 1 10
Deafness, autosomal recessive 77 264 1 18
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 264 3 1
Fibrous dysplasia of jaw 263 2 9
Luscan-lumish syndrome 263 1 5
Tay-Sachs disease 263 2 27
Carney complex, type 1 262 2 5
Ehlers-Danlos syndrome, hydroxylysine-deficient 262 3 10
Fabry disease 261 3 24
Cardiac arrhythmia, ankyrin B-related 260 1 15
Congenital central hypoventilation 260 8 7
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 260 1 3
Elliptocytosis 2 260 1 4
Familial hypoalphalipoproteinemia 260 2 2
Glycogen storage disease, type V 260 1 20
Thrombocytopenia 260 27 3
Congenital Muscular Dystrophy, alpha-dystroglycan related 259 4 1
Benign familial neonatal seizures 2 258 2 16
Charcot-Marie-Tooth disease type 2P 258 1 11
FLNB-Related Spectrum Disorders 258 1 1
Leprechaunism syndrome 258 1 5
Congenital myasthenic syndrome 257 17 8
Dilated cardiomyopathy 1JJ 257 1 10
Dilated cardiomyopathy 1O 257 1 5
Fanconi anemia, complementation group P 257 1 8
Insulin-resistant diabetes mellitus AND acanthosis nigricans 257 1 4
Hereditary sensory and autonomic neuropathy type IC 255 2 9
Joubert syndrome 17 254 2 13
Leukocyte adhesion deficiency 1 254 1 7
Dystrophic epidermolysis bullosa 253 1 2
Fanconi anemia, complementation group J 253 1 8
Glutaric aciduria, type 1 253 3 25
Polyglandular autoimmune syndrome, type 1 253 2 10
3-Methylglutaconic aciduria type 3 252 1 7
Budd-Chiari syndrome 252 3 1
Merosin deficient congenital muscular dystrophy 252 1 25
Non-syndromic X-linked intellectual disability 251 16 4
Spherocytosis type 3 251 1 6
Loeys-Dietz syndrome 4 250 5 16
Mucopolysaccharidosis, MPS-III-A 250 3 20
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 250 5 16
Aniridia 1 248 6 14
Diabetes mellitus, neonatal, with congenital hypothyroidism 248 1 4
Pineal hyperplasia AND diabetes mellitus syndrome 247 1 5
Ductal breast carcinoma 246 255 2
Dystonia 12 246 1 7
Factor V deficiency 246 1 7
Autosomal recessive limb-girdle muscular dystrophy type 2B 245 1 24
Choreoacanthocytosis 245 1 10
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 244 1 5
Hereditary nonpolyposis colorectal cancer type 4 244 2 19
Koolen-de Vries syndrome 244 4 15
Severe neonatal-onset encephalopathy with microcephaly 244 10 8
Acromicric dysplasia 243 2 4
MYH9-related disorder 243 2 3
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 243 1 10
Knobloch syndrome 1 242 3 17
Long QT syndrome 1 242 11 31
Progressive familial heart block type IB 242 2 11
Spherocytosis type 1 242 1 8
Stiff skin syndrome 242 2 3
Stüve-Wiedemann syndrome 242 3 10
Holocarboxylase synthetase deficiency 241 2 13
Legius syndrome 241 2 12
Venous thrombosis 241 3 7
Epilepsy, familial focal, with variable foci 1 240 2 17
Myofibrillar myopathy, ZASP-related 240 2 6
Osteogenesis imperfecta type 7 240 2 10
Ataxia-telangiectasia-like disorder 1 239 1 17
Congenital disorder of glycosylation, type Ia 239 2 31
Wagner syndrome 239 1 7
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 238 4 1
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 237 1 2
Gamma-aminobutyric acid transaminase deficiency 237 3 6
Glanzmann thrombasthenia 237 3 8
Hyperphosphatasia with mental retardation syndrome 2 237 2 8
Neoplasm of brain 237 14 2
Holoprosencephaly sequence 236 15 5
Tyrosine kinase 2 deficiency 236 1 5
Bare lymphocyte syndrome type 1 235 5 4
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 235 2 1
Timothy syndrome 235 1 8
Heterotaxy, visceral, 4, autosomal 234 2 8
Vitreoretinopathy 234 6 4
Familial X-linked hypophosphatemic vitamin D refractory rickets 233 3 14
Nephropathic cystinosis 233 4 10
Familial hypokalemia-hypomagnesemia 232 2 24
Finnish congenital nephrotic syndrome 232 6 26
Hermansky-Pudlak syndrome 232 12 4
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 13
Pontoneocerebellar hypoplasia 231 10 3
von Willebrand disorder 231 1 4
Cutaneous malignant melanoma 5 230 2 5
Leber congenital amaurosis 230 46 13
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 230 1 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 230 1 11
Glioblastoma 229 22 4
Nail-patella syndrome 229 1 11
Neural tube defect 229 10 7
Achromatopsia 3 228 1 8
Carcinoma of esophagus 228 15 2
Neuronal ceroid lipofuscinosis 1 228 1 22
Xeroderma pigmentosum variant type 228 2 12
Dilated cardiomyopathy 3B 227 4 10
Fanconi anemia, complementation group C 227 2 12
Norman-Roberts syndrome 227 2 9
Severe combined immunodeficiency due to DCLRE1C deficiency 227 4 4
Gray platelet syndrome 226 2 6
Hennekam lymphangiectasia-lymphedema syndrome 1 226 2 8
Hereditary spastic paraplegia 39 226 2 8
Malignant hyperthermia susceptibility 225 2 4
Ovarian Serous Cystadenocarcinoma 225 9 1
Surfactant metabolism dysfunction, pulmonary, 3 225 1 8
Agenesis of the corpus callosum with peripheral neuropathy 224 3 13
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 224 1 3
Holoprosencephaly 11 224 1 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 224 2 10
Premature ovarian failure 224 168 4
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 224 1 8
Multiple acyl-CoA dehydrogenase deficiency 223 4 16
Paroxysmal extreme pain disorder 223 2 4
Ataxia-telangiectasia-like disorder 222 2 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 222 2 11
Greig cephalopolysyndactyly syndrome 222 2 9
Hereditary hemorrhagic telangiectasia 222 3 2
Supravalvar aortic stenosis 222 2 6
Arterial tortuosity syndrome 221 1 13
Familial focal epilepsy with variable foci 221 1 1
Long QT syndrome 3 221 2 15
Deafness, autosomal dominant 4 220 1 8
Netherton syndrome 220 1 14
Severe X-linked myotubular myopathy 220 3 10
Thyroid dyshormonogenesis 6 220 1 14
Cataract 18 219 1 6
Fanconi anemia, complementation group D1 219 2 5
Multiple epiphyseal dysplasia type 4 219 1 7
Peroxisomal acyl-CoA oxidase deficiency 219 2 8
Posterior column ataxia-retinitis pigmentosa syndrome 219 3 7
Glycogen storage disease of heart, lethal congenital 218 2 4
Congenital myasthenic syndrome 12 217 2 5
Epilepsy 217 19 9
Epileptic encephalopathy, early infantile, 30 217 2 4
Mucolipidosis type II 217 2 12
Renal cysts and diabetes syndrome 217 1 1
Myhre syndrome 216 1 9
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 216 1 2
Paramyotonia congenita of von Eulenburg 216 2 5
ABCA4-Related Disorders 215 1 2
Congenital muscular hypertrophy-cerebral syndrome 215 2 20
Deafness, autosomal recessive 1A 215 4 27
Hypokalemic periodic paralysis 1 215 3 10
Three M syndrome 2 215 1 8
WFS1-Related Spectrum Disorders 215 1 2
Weaver syndrome 215 3 11
Platelet-type bleeding disorder 9 214 2 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 214 1 10
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 213 2 8
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 213 2 1
Pyruvate carboxylase deficiency 213 1 14
Qualitative or quantitative defects of delta-sarcoglycan 213 1 1
Achondrogenesis, type IA 212 1 6
Hyperaldosteronism, familial, type I 212 4 2
Hypogonadotropic hypogonadism 5 with or without anosmia 212 2 8
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 211 2 6
Potassium aggravated myotonia 211 2 3
Spastic paraplegia 30, autosomal recessive 211 1 5
Alpha-1-antitrypsin deficiency 210 1 21
Arterial calcification, generalized, of infancy, 1 210 1 8
Frank-Ter Haar syndrome 210 1 7
Hydatidiform mole, recurrent, 1 210 3 8
Danon disease 209 2 10
Gastrointestinal stromal tumor; Paragangliomas 3 209 3 1
Hereditary factor XI deficiency disease 209 2 10
Steinert myotonic dystrophy syndrome 209 5 10
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 208 2 1
Carnitine palmitoyltransferase II deficiency 208 2 8
Familial cold autoinflammatory syndrome 3 208 1 3
Hypokalemic periodic paralysis, type 2 208 2 4
Irido-corneo-trabecular dysgenesis 208 12 4
Niemann-Pick disease, type A 207 2 16
Polydactyly 207 3 2
Brody myopathy 206 3 6
Congenital myasthenic syndrome, acetazolamide-responsive 206 2 4
Glaucoma 3, primary congenital, d 206 1 2
Autosomal dominant nonsyndromic deafness 6 205 1 8
Biotin-responsive basal ganglia disease 205 1 19
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 204 4 1
Pityriasis rubra pilaris; Psoriasis susceptibility 2 204 2 2
Thyroid hormone resistance, generalized, autosomal dominant 204 1 7
Vitamin B12-responsive methylmalonic acidemia type cblA 204 1 14
Cholestanol storage disease 203 2 20
Hereditary spastic paraplegia 7 203 1 24
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 203 1 2
Primary open angle glaucoma 203 7 7
Diastrophic dysplasia 202 1 8
Junctional epidermolysis bullosa, non-Herlitz type 202 5 12
Spherocytosis 202 1 1
Amyotrophic lateral sclerosis type 4 201 1 6
Cardio-facio-cutaneous syndrome 201 7 8
Episodic ataxia type 1 201 1 9
Maturity-onset diabetes of the young, type 2 201 1 14
Pallister-Hall syndrome 201 1 4
Primary erythromelalgia 201 2 7
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 201 1 2
Craniometaphyseal dysplasia, autosomal dominant 200 3 2
Deficiency of acetyl-CoA acetyltransferase 200 2 14
Familial hypercholesterolemia 3 200 2 11
Isovaleryl-CoA dehydrogenase deficiency 200 1 14
Lethal acantholytic epidermolysis bullosa 200 1 2
Miyoshi myopathy 200 2 1
Pseudohypoaldosteronism type 2C 200 2 4
Atrial septal defect 199 7 3
Autosomal dominant nonsyndromic deafness 17 199 1 4
Ectopia lentis, isolated, autosomal dominant 199 3 5
GNE myopathy 199 2 20
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 199 1 5
Mosaic variegated aneuploidy syndrome 199 3 2
Neuronal ceroid lipofuscinosis 7 199 3 13
Porencephaly 2 199 2 9
Renal hypodysplasia/aplasia 1 199 4 6
Familial calcium pyrophosphate deposition 198 3 2
Geleophysic dysplasia 198 3 1
Indifference to pain, congenital, autosomal recessive 198 2 8
Macular corneal dystrophy Type I 198 1 5
Blau syndrome; Inflammatory bowel disease 1 197 1 1
Myoclonic epilepsy, familial infantile 197 2 5
Waardenburg syndrome 197 8 3
Long QT syndrome 2 196 7 21
Medulloblastoma 195 30 8
Multiple congenital exostosis 195 1 4
Dilated cardiomyopathy 1J 194 2 3
Optic atrophy and cataract, autosomal dominant 194 1 4
Paroxysmal familial ventricular fibrillation 1 194 14 4
Xeroderma pigmentosum, group C 194 2 13
Familial hemiplegic migraine 193 4 3
Palmoplantar keratoderma, nonepidermolytic, focal 2 193 2 2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 192 1 3
Hypomyelinating leukodystrophy 7 192 2 14
Multiple myeloma 192 56 3
APC-Associated Polyposis Disorders 191 1 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 191 1 13
Autosomal recessive congenital ichthyosis 1 191 4 16
Blau syndrome 191 1 7
Cystinuria 191 4 20
Distal arthrogryposis type 2B 191 4 6
Juvenile myoclonic epilepsy 191 4 8
Bardet-Biedl syndrome 1 190 11 25
Mental retardation, autosomal recessive 53 190 2 5
Shprintzen-Goldberg syndrome 190