ClinVar Miner

Variants by condition

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Total conditions: 12562
Total variants: 511257
Total genes and gene combinations: 24760
Total submitters: 1282
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Filter Condition Variants Genes Submitters
not provided 132241 10786 163
not specified 97063 3786 60
Hereditary cancer-predisposing syndrome 44653 115 18
See cases 24599 12464 20
Cardiovascular phenotype 8403 133 4
Hereditary breast and ovarian cancer syndrome 6990 25 29
Breast-ovarian cancer, familial 2 6037 6 39
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 5236 2 1
Breast-ovarian cancer, familial 1 4787 12 51
History of neurodevelopmental disorder 4574 183 1
Hereditary nonpolyposis colon cancer 4481 9 2
Familial cancer of breast 4081 36 40
Lynch syndrome 4024 18 15
Ataxia-telangiectasia syndrome 3568 2 27
Hypertrophic cardiomyopathy 3488 61 15
Ciliary dyskinesia 3401 43 8
Familial hypercholesterolemia 3116 14 41
Cardiomyopathy 2951 74 20
Inborn genetic diseases 2779 1023 1
Neurofibromatosis, type 1 2670 18 32
Long QT syndrome 2655 124 15
Familial adenomatous polyposis 1 2629 3 23
Dilated Cardiomyopathy, Dominant 2528 43 2
Tuberous sclerosis syndrome 2373 3 9
Fanconi anemia 2270 27 3
Tuberous sclerosis 2 2112 6 20
Colorectal cancer, susceptibility to, 12 2056 1 7
Thoracic aortic aneurysm and aortic dissection 1869 31 13
Nonsyndromic Hearing Loss, Recessive 1838 36 2
Brugada syndrome 1809 30 15
Retinitis Pigmentosa, Recessive 1757 39 1
Limb-Girdle Muscular Dystrophy, Recessive 1617 18 1
Charcot-Marie-Tooth disease type 4 1578 11 3
Early infantile epileptic encephalopathy 1454 25 8
Cystic fibrosis 1427 14 33
Charcot-Marie-Tooth disease, type 2 1412 18 3
Seizures 1388 76 7
Marfan syndrome 1379 15 38
Gastrointestinal stroma tumor 1331 16 13
Nonsyndromic Hearing Loss, Dominant 1259 21 1
Colorectal cancer 10 1210 1 6
Congenital disorder of glycosylation 1184 48 4
Rhabdoid tumor predisposition syndrome 2 1165 1 6
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 1139 1 3
Catecholaminergic polymorphic ventricular tachycardia 1130 8 7
Nemaline myopathy 2 1124 2 17
Familial colorectal cancer 1110 17 8
Duchenne muscular dystrophy 1086 6 18
Gorlin syndrome 1069 6 16
Alstrom syndrome 1043 1 21
Familial cancer of breast; Fanconi anemia, complementation group J 1026 2 2
Distal myopathy Markesbery-Griggs type 1010 2 10
Hereditary diffuse gastric cancer 1007 2 17
Baller-Gerold syndrome 1000 1 2
Hereditary myopathy with early respiratory failure 993 2 6
Myopathy, early-onset, with fatal cardiomyopathy 990 2 6
Joubert syndrome 985 34 12
Arrhythmogenic right ventricular cardiomyopathy 946 27 12
Bethlem myopathy 1 932 7 14
Bardet-Biedl syndrome 929 33 17
Familial hypercholesterolemias 928 7 4
Emery-Dreifuss muscular dystrophy 897 7 4
Congenital long QT syndrome 893 10 2
Primary dilated cardiomyopathy 891 80 19
Epileptic encephalopathy 864 39 12
Epidermolysa bullosa simplex and limb girdle 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 845 1 2
Alport syndrome 1, X-linked recessive 842 3 18
Microcephaly, normal intelligence and immunodeficiency 813 2 13
Primary familial hypertrophic cardiomyopathy 812 74 10
Macular degeneration 811 16 2
Tuberous sclerosis 1 811 2 11
Retinitis Pigmentosa, Dominant 803 25 1
Rasopathy 794 16 10
Oligodontia-colorectal cancer syndrome 766 1 5
Neoplasm of the breast 759 35 9
RYR1-Related Disorders 753 1 3
Leber congenital amaurosis 752 39 11
Juvenile polyposis syndrome 750 4 14
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 742 2 1
Neuroblastoma 3 729 2 8
Retinitis pigmentosa-deafness syndrome 719 17 2
Ehlers-Danlos syndrome, type 4 716 4 21
Peroxisome biogenesis disorder 1A (Zellweger) 713 17 13
Bloom syndrome 704 1 18
Li-Fraumeni syndrome 699 3 9
Ehlers-Danlos syndrome, classic type 694 9 19
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 694 1 1
Renal cell carcinoma, papillary, 1 680 20 8
Werner syndrome 680 2 9
Autosomal recessive polycystic kidney disease 677 5 26
Peutz-Jeghers syndrome 666 5 18
Spastic paraplegia 666 26 5
Primary pulmonary hypertension 661 12 10
Severe myoclonic epilepsy in infancy 658 6 21
Cohen syndrome 647 4 29
Nephronophthisis 637 15 4
MYH-associated polyposis 629 2 18
Romano-Ward syndrome 628 13 2
Multiple endocrine neoplasia, type 2 623 3 4
Leigh syndrome 608 44 23
Pheochromocytoma 596 14 10
Citalopram response 591 2 1
Escitalopram response 591 2 1
Sertraline response 591 2 1
Voriconazole response 591 2 1
PTEN hamartoma tumor syndrome 588 2 9
Spinocerebellar Ataxia, Dominant 588 10 1
Cryptophthalmos syndrome 585 3 13
Noonan syndrome 569 18 15
Glycogen storage disease, type II 567 3 24
Spastic Paraplegia, Recessive 554 11 1
Jeune thoracic dystrophy 546 27 5
Mitochondrial complex II deficiency; Paragangliomas 5 544 1 1
Progressive sclerosing poliodystrophy 544 3 11
Adams-Oliver syndrome 5 542 3 7
Rett syndrome 540 5 34
Multiple endocrine neoplasia, type 1 537 2 16
Primary Microcephaly, Recessive 531 10 1
Retinoblastoma 514 17 11
Connective tissue disorder 510 28 2
Holoprosencephaly sequence 508 15 5
Cone-Rod Dystrophy, Dominant 507 8 1
Mitochondrial complex I deficiency 507 36 20
Collagen VI-related myopathy 506 4 4
Malignant tumor of prostate 500 453 8
Congenital contractural arachnodactyly 496 1 16
Usher syndrome, type 2A; Retinitis pigmentosa 39 494 3 3
Hermansky-Pudlak syndrome 489 12 2
Malignant hyperthermia susceptibility 483 2 4
Xeroderma pigmentosum 482 12 2
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 479 1 1
Spastic paraplegia 11, autosomal recessive 475 2 20
CHARGE association 473 3 33
Wilson disease 473 2 30
Amyotrophic Lateral Sclerosis, Dominant 468 12 1
Maple syrup urine disease 466 5 19
Meckel-Gruber syndrome 466 23 4
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 466 3 2
Loeys-Dietz syndrome 465 12 9
Spastic paraplegia, autosomal dominant 465 11 1
Osler hemorrhagic telangiectasia syndrome 462 4 15
Neuronal ceroid lipofuscinosis 453 10 5
Spastic ataxia Charlevoix-Saguenay type 448 2 25
Phenylketonuria 447 2 34
Non-ketotic hyperglycinemia 443 6 21
Autism spectrum disorder 441 64 10
Ovarian Neoplasms 436 30 2
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 430 3 1
Myopathy, Central Core 430 2 19
Maturity onset diabetes mellitus in young 429 14 3
Lynch syndrome I 427 6 20
Fanconi anemia, complementation group O 424 1 5
Multiple fibrofolliculomas 423 1 13
Neoplasm of the large intestine 420 34 2
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 417 1 1
Renal hamartomas nephroblastomatosis and fetal gigantism 416 3 5
Retinitis pigmentosa 415 80 18
Glycogen storage disease type III 412 1 17
Cone-Rod Dystrophy, Recessive 410 7 1
Hereditary cutaneous melanoma 410 5 2
Von Hippel-Lindau syndrome 409 2 15
Beckwith-Wiedemann syndrome 407 9 7
Cerebellar ataxia 403 7 7
Lung adenocarcinoma 398 39 6
Left ventricular noncompaction cardiomyopathy 394 29 3
Glucose-6-phosphate transport defect 392 1 8
Pancreatic adenocarcinoma 392 18 2
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 391 1 7
Epidermolysis bullosa, junctional 383 4 1
Mononeuropathy of the Median Nerve 382 2 1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 381 1 8
Tumor susceptibility linked to germline BAP1 mutations 380 8 8
Congenital hypothyroidism 379 8 3
Acute myeloid leukemia 378 36 13
Breast and/or ovarian cancer 377 3 3
Pseudoxanthoma elasticum 377 3 10
Aortic aneurysm, familial thoracic 4 375 3 15
Retinal dystrophy 375 83 9
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 373 3 1
Congenital Myasthenic Syndrome, Recessive 372 6 1
Ehlers-Danlos syndrome, type 7A 369 4 1
Charcot-Marie-Tooth disease, axonal, type 2O 368 2 4
Kabuki syndrome 1 367 7 35
Pendred syndrome 366 4 11
Non-syndromic X-linked intellectual disability 362 16 4
Progressive myoclonic epilepsy 362 8 2
Adenocarcinoma of stomach 361 33 2
Breast-ovarian cancer, familial 4 360 3 6
Disorders of Intracellular Cobalamin Metabolism 359 6 1
Congenital Stationary Night Blindness, Recessive 355 7 1
Neurofibromatosis, type 2 353 1 11
Epilepsy, focal, with speech disorder and with or without mental retardation 347 4 23
Laminin alpha 2-related dystrophy 346 1 3
Pseudohypoaldosteronism type 1 autosomal dominant 346 4 6
Congenital ichthyosiform erythroderma 344 10 1
Very long chain acyl-CoA dehydrogenase deficiency 343 3 19
Osteogenesis imperfecta type I 342 3 14
Squamous cell carcinoma of the head and neck 341 29 3
Charcot-Marie-Tooth disease, type I 340 10 3
Cornelia de Lange syndrome 1 340 4 20
Combined oxidative phosphorylation deficiency 338 13 1
Pitt-Hopkins-like syndrome 1 338 5 4
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 337 1 1
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 336 7 1
Hereditary nonpolyposis colorectal cancer type 5 334 1 13
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 333 4 1
Arrhythmia 331 9 5
Familial hypertrophic cardiomyopathy 14 331 4 5
Short Rib Polydactyly Syndrome 331 9 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 330 2 16
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 330 29 10
Hereditary Paraganglioma-Pheochromocytoma Syndromes 327 8 8
Limb-girdle muscular dystrophy, type 2A 324 3 25
Elliptocytosis 323 2 1
Intellectual Disability, Dominant 321 4 1
Neuromuscular disease, congenital, with uniform type 1 fiber 321 1 2
Chédiak-Higashi syndrome 319 1 10
Multiminicore Disease 319 1 3
Spherocytosis, Dominant 319 3 1
Fumarase deficiency 316 1 9
Osteogenesis Imperfecta, Recessive 314 11 1
Rubinstein-Taybi syndrome 1 314 3 20
Dystonia 313 17 6
Atypical hemolytic uremic syndrome 312 8 4
Galactosylceramide beta-galactosidase deficiency 311 3 20
Aortic aneurysm, familial thoracic 7 310 1 14
Hereditary sensory and autonomic neuropathy type II 309 5 1
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 307 2 8
Mucopolysaccharidosis type VI 305 2 15
Weill-Marchesani syndrome 305 4 2
Metachromatic leukodystrophy 304 4 17
Nemaline Myopathy, Recessive 302 6 1
Nonsyndromic hearing loss and deafness 300 42 5
Mowat-Wilson syndrome 297 3 22
Epilepsy, familial focal, with variable foci 1 294 2 12
Arrhythmogenic right ventricular cardiomyopathy, type 9 293 12 18
Junctional epidermolysis bullosa gravis of Herlitz 292 4 7
Stickler Syndrome, Dominant 292 3 1
Biotinidase deficiency 291 2 17
Hypokalemic periodic paralysis 291 3 2
Dysferlinopathy 289 1 3
Kabuki syndrome 289 2 2
Osteopetrosis 289 6 1
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 288 3 3
Usher syndrome, type 1F 288 3 8
Malignant neoplasm of body of uterus 287 25 1
Neuronal Ceroid-Lipofuscinosis, Recessive 285 6 1
Congenital cataract 284 32 6
Pitt-Hopkins-like syndrome 284 2 1
Schwartz Jampel syndrome type 1 283 2 7
Renal carnitine transport defect 282 3 19
SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 281 1 1
Malignant melanoma of skin 280 37 2
Methylmalonic acidemia 280 7 2
Familial platelet disorder with associated myeloid malignancy 278 3 8
Severe Combined Immune Deficiency 278 10 1
Finnish congenital nephrotic syndrome 276 5 20
Transitional cell carcinoma of the bladder 276 27 1
Monogenic diabetes 275 39 2
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 274 3 1
Occult macular dystrophy 273 1 5
Episodic ataxia 272 4 2
Familial Mediterranean fever 272 1 19
Squamous cell lung carcinoma 272 22 3
Autosomal dominant nocturnal frontal lobe epilepsy 271 6 2
Hepatocellular carcinoma 270 26 5
Hereditary factor VIII deficiency disease 270 1 10
Renal dysplasia and retinal aplasia 269 7 1
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 268 1 3
Dyssegmental Dysplasia 267 2 1
Niemann-Pick disease type C1 267 1 26
Premature ovarian failure 267 166 3
Dilated cardiomyopathy 1DD 266 3 14
Myasthenic syndrome, congenital, 8 266 2 8
Ataxia-telangiectasia-like disorder 1 265 1 11
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 264 2 3
Mitochondrial DNA depletion syndrome 264 9 2
Familial atrial fibrillation 262 9 3
Propionyl-CoA carboxylase deficiency 262 4 19
Seckel syndrome 262 6 3
Pseudohypoaldosteronism, type 2 261 5 3
Neuroblastoma 260 31 6
Primary autosomal recessive microcephaly 5 259 1 19
Donnai Barrow syndrome 257 2 11
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 257 2 1
Multiple Epiphyseal Dysplasia, Dominant 256 9 2
Primary hyperoxaluria, type I 256 2 12
Benign familial neonatal seizures 254 2 3
Familial erythrocytosis 254 3 1
Fanconi anemia, complementation group A 254 4 21
Sotos syndrome 1 253 1 16
Ellis-van Creveld Syndrome 252 3 2
Lissencephaly, Recessive 252 5 1
Pontoneocerebellar hypoplasia 252 11 2
Familial dysautonomia 251 1 11
Porencephalic cyst 248 3 1
Chromosome 9q deletion syndrome 247 3 12
Limb-girdle muscular dystrophy, type 2B 247 1 20
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 247 1 1
Ductal breast carcinoma 246 255 2
Familial hemiplegic migraine 246 3 3
Ectodermal dysplasia skin fragility syndrome 245 2 3
Insulin-like growth factor 1 resistance to 245 2 4
Bare lymphocyte syndrome 2 243 5 6
Deafness, autosomal recessive 2; Usher syndrome, type 1 243 1 1
Familial hypobetalipoproteinemia 243 4 3
Stargardt disease 1 243 4 20
Alport syndrome 242 4 3
Merosin deficient congenital muscular dystrophy 242 1 24
Nonsyndromic Hearing Loss, Mixed 241 6 1
Heterotaxia 239 5 3
Neoplasm of brain 237 14 2
Juvenile myoclonic epilepsy 236 4 6
Parathyroid carcinoma 236 2 5
Parkinson disease 8, autosomal dominant 236 1 8
Ectopia lentis 235 3 1
Focal segmental glomerulosclerosis 234 7 3
Hyperkalemic Periodic Paralysis Type 1 233 3 3
Tay-Sachs disease 232 2 23
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 232 1 2
Angelman syndrome 231 7 16
Melanoma, cutaneous malignant, susceptibility to, 10 231 1 2
Cranioectodermal dysplasia 230 9 3
Spherocytosis, Recessive 230 2 1
Timothy syndrome 230 1 7
Alport syndrome, autosomal recessive 229 3 13
Craniosynostosis 229 5 4
Glioblastoma 229 22 4
Hereditary pancreatitis 229 11 14
Intellectual Disability, Recessive 229 4 1
Carcinoma of esophagus 228 15 2
Familial Candidiasis, Recessive 228 3 1
Megaloblastic anemia 228 1 1
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 227 1 1
Generalized epilepsy with febrile seizures plus 226 6 2
Normal pregnancy 226 123 1
Geleophysic dysplasia 225 3 1
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 225 1 2
Ovarian Serous Cystadenocarcinoma 225 9 1
Hypogonadism with anosmia 224 3 1
Waardenburg syndrome 224 9 3
Early infantile epileptic encephalopathy 12 223 3 9
Fabry disease 223 3 21
Fibrochondrogenesis 220 2 2
Juvenile Polyposis 220 4 1
Multiple endocrine neoplasia, type 2a 220 3 14
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 220 1 1
Homocystinuria due to CBS deficiency 219 2 18
Brugada syndrome 8 217 1 4
Dilated cardiomyopathy 1KK 217 1 10
Lynch syndrome II 216 1 13
Familial hypertrophic cardiomyopathy 1 215 21 21
Charcot-Marie-Tooth, Intermediate 213 7 1
Familial hemophagocytic lymphohistiocytosis 213 5 2
Optic Atrophy, Dominant 213 2 1
Dyskeratosis Congenita, Recessive 212 13 1
Autosomal recessive cerebellar ataxia 211 5 1
Weill-Marchesani-like syndrome 211 1 4
Pitt-Hopkins syndrome 210 2 21
Congenital Muscular Dystrophy, alpha-dystroglycan related 209 4 1
Hyperinsulinism, Dominant 209 5 1
Primary open angle glaucoma 209 7 6
Spastic paraplegia 4, autosomal dominant 209 7 19
Medium-chain acyl-coenzyme A dehydrogenase deficiency 208 2 17
Warburg micro syndrome 208 4 1
Achromatopsia 206 5 6
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 206 2 1
Epidermolysis bullosa junctionalis with pyloric atresia 206 4 8
Fibrous dysplasia of jaw 206 1 8
Hereditary pyropoikilocytosis 206 2 3
Persistent hyperinsulinemic hypoglycemia of infancy 206 2 10
Joubert syndrome; Meckel-Gruber syndrome 205 9 1
Permanent neonatal diabetes mellitus 205 9 6
Thrombocytopenia 205 6 2
Ehlers-Danlos syndrome, type vii, autosomal recessive 204 2 9
Brachydactyly 203 6 1
Focal cortical dysplasia type II 202 3 4
Renal dysplasia 202 5 6
Sanfilippo syndrome 202 5 2
Atrial septal defect 201 7 4
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 201 3 1
Holt-Oram syndrome 201 2 12
Miyoshi myopathy 200 2 1
Achondrogenesis 199 2 1
Hirschsprung Disease, Dominant 199 4 1
Microcephalic Osteodysplastic Primordial Dwarfism 199 1 1
Congenital hyperammonemia, type I 198 1 11
Walker-Warburg congenital muscular dystrophy 198 5 2
Cutis laxa, recessive 197 6 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 195 4 16
Smith-Lemli-Opitz syndrome 194 1 26
Dyskeratosis congenita 193 9 5
Arrhythmogenic right ventricular cardiomyopathy, type 10 192 1 5
Polycystic liver disease 1 192 4 6
Citrullinemia type I 189 2 19
Nephropathic cystinosis 189 4 7
Left ventricular noncompaction 8 187 2 3
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 187 1 2
Spondyloepiphyseal dysplasia 187 3 7
Adenocarcinoma of prostate 186 17 1
Cardio-facio-cutaneous syndrome 186 7 6
Pyruvate dehydrogenase complex deficiency 185 8 3
Tangier disease 184 2 4
Myofibrillar Myopathy, Dominant 183 8 1
Noonan-Like Syndrome Disorder 183 4 2
Rhizomelic chondrodysplasia punctata 183 4 2
Schizophrenia 183 123 6
Severe X-linked myotubular myopathy 183 2 9
Weaver syndrome 183 3 10
Becker muscular dystrophy 182 3 10
Budd-Chiari syndrome 182 3 1
Dilated cardiomyopathy 1JJ 182 2 7
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 182 1 5
Rigidity and multifocal seizure syndrome, lethal neonatal 182 1 7
3-Methylglutaconic aciduria type 3 181 1 5
Congenital Myasthenic Syndrome, Dominant/Recessive 181 7 1
Epileptic encephalopathy, childhood-onset 181 1 12
Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3 181 1 2
Chondroectodermal dysplasia 180 5 11
Diarrhea with Microvillus Atrophy 180 2 1
Early myoclonic encephalopathy 180 3 5
Intellectual disability 180 80 23
Familial High Density Lipoprotein Deficiency 179 2 1
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 178 2 6
Ehlers-Danlos syndrome, hydroxylysine-deficient 178 2 8
Multiple endocrine neoplasia 178 5 2
Myofibrillar myopathy, ZASP-related 178 2 5
Dilated Cardiomyopathy, Recessive 177 5 2
Pyridoxine-dependent epilepsy 177 7 14
Robinow syndrome 177 3 6
Three M syndrome 177 2 2
short QT syndrome 177 6 3
Arrhythmogenic right ventricular cardiomyopathy, type 11 176 2 12
Autoimmune lymphoproliferative syndrome 176 4 10
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 176 1 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 176 5 1
Wilms tumor 1 176 4 6
Frontotemporal dementia 175 9 8
Histiocytic medullary reticulosis 175 4 4
Pallister-Hall syndrome 175 1 3
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 175 6 4
Curry-Hall syndrome 174 3 3
Encephalopathy, acute, infection-induced, 3, suceptibility to 174 2 8
I cell disease 174 2 9
Leprechaunism syndrome 174 1 6
Majeed syndrome 174 1 11
Skeletal dysplasia 174 4 3
Uterine Carcinosarcoma 174 12 1
Cone dystrophy 3 173 4 2
Diamond-Blackfan anemia 173 15 3
Adrenoleukodystrophy 172 1 20
Congenital central hypoventilation 172 8 5
Benign Neonatal Epilepsy 171 1 1
Hyper-IgE syndrome 171 4 3
Jervell and Lange-Nielsen syndrome 171 3 2
Marles Greenberg Persaud syndrome 171 1 2
Mental retardation, autosomal dominant 5 171 1 25
Acromicric dysplasia 170 2 5
Cutaneous melanoma 170 21 3
Deficiency of alpha-mannosidase 170 1 15
Dilated cardiomyopathy 1W 170 1 4
Irido-corneo-trabecular dysgenesis 170 12 4
Hereditary nonpolyposis colorectal cancer type 4 169 1 14
Insulin-resistant diabetes mellitus AND acanthosis nigricans 169 1 3
Stiff skin syndrome 168 2 3
Dysostosis multiplex 167 2 9
Hereditary sensory and autonomic neuropathy type IC 166 1 7
Paroxysmal extreme pain disorder 166 2 4
Abnormality of esophagus morphology 165 130 1
Alexander Disease 165 2 12
Congenital Stationary Night Blindness, Dominant 165 3 1
Deafness, autosomal recessive 1A 165 4 21
Glutaric aciduria, type 1 165 2 19
Glycogen storage disease of heart, lethal congenital 165 2 3
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 165 1 2
MASS syndrome 165 2 4
Pitt-Hopkins-like syndrome 2 165 4 9
Spondyloepiphyseal dysplasia with congenital joint dislocations 165 1 9
Cockayne syndrome 164 6 3
Cornelia de Lange Syndrome 164 4 1
Gorlin syndrome; Medulloblastoma 164 1 1
Leukoencephalopathy with vanishing white matter 164 7 9
Wagner syndrome 164 1 6
Familial hypertrophic cardiomyopathy 4 163 5 21
Stargardt Disease, Recessive 163 2 1
Arthrogryposis multiplex congenita 162 6 3
Congenital adrenal hyperplasia 162 10 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 162 3 11
Legius syndrome 162 2 10
Pineal hyperplasia AND diabetes mellitus syndrome 162 1 5
Hereditary insensitivity to pain with anhidrosis 161 2 8
Immunodeficiency 26 with or without neurologic abnormalities 161 1 4
Multiple epiphyseal dysplasia 4 161 1 5
Alpha-1-antitrypsin deficiency 160 1 16
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 160 1 2
Hypophosphatemic Rickets, Recessive 160 2 1
Medulloblastoma 160 30 7
Nephrotic syndrome 160 4 2
Steinert myotonic dystrophy syndrome 160 5 8
Distal spinal muscular atrophy 159 12 4
Familial adenomatous polyposis 159 1 4
Greig cephalopolysyndactyly syndrome 159 1 6
Pseudohypoaldosteronism type 1 autosomal recessive 159 5 4
Usher syndrome, type 2A 159 3 27
Amelogenesis Imperfecta, Recessive 158 2 1
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 158 2 1
Gestational diabetes mellitus uncontrolled 158 83 1
Inherited Erythromelalgia 158 2 1
Small fiber neuropathy 158 2 2
Succinate-semialdehyde dehydrogenase deficiency 158 2 10
Congenital Indifference to Pain 157 2 1
Giant axonal neuropathy 157 2 9
Hydatidiform mole 157 2 7
Pfeiffer syndrome 157 2 7
Polycystic kidney disease, adult type 157 3 18
Venous thrombosis 157 3 5
Andermann syndrome 156 3 10
Danon disease 156 2 8
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 156 4 1
Familial Febrile Seizures 156 2 1
Knobloch syndrome 1 156 3 13
Pol III-related leukodystrophy 156 4 1
Pulmonary Surfactant Metabolism Dysfunction, Recessive 156 2 1
MLH3-Related Lynch Syndrome 155 1 1
Nail-patella syndrome 155 1 7
Primary congenital glaucoma 155 4 1
Vitreoretinopathy 155 3 3
Arterial tortuosity syndrome 154 1 10
Familial restrictive cardiomyopathy 154 7 2
Idiopathic generalized epilepsy 154 5 2
Progressive familial heart block 154 5 2
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 154 3 9
Cleft Lip +/- Cleft Palate, Autosomal Dominant 153 6 1
Early-Onset Familial Alzheimer Disease 153 3 1
Glycogen storage disease, type V 153 1 15
Koolen-de Vries syndrome 153 2 11
Mental retardation, autosomal dominant 1 153 4 11
Charcot-Marie-Tooth disease type 2C 152 1 5
Chondrodysplasia 152 5 1
Supravalvar aortic stenosis 152 1 4
Familial Intrahepatic Cholestasis 151 4 1
Familial hypokalemia-hypomagnesemia 151 2 22
Gamma-aminobutyric acid transaminase deficiency 151 1 6
Osteogenesis Imperfecta, Dominant 151 2 1
Usher syndrome, type 1 151 11 13
Acrodysostosis 150 3 1
Common variable immunodeficiency 8, with autoimmunity 150 2 7
Dilated cardiomyopathy 1G 150 2 13
Epilepsy 150 10 6
Aicardi Goutieres syndrome 149 8 2
Early infantile epileptic encephalopathy 2 149 2 19
Holocarboxylase synthetase deficiency 149 1 11
Dilated cardiomyopathy 3B 148 5 9
Familial cold autoinflammatory syndrome 148 2 1
Hyperinsulinism, Dominant/Recessive 148 5 1
Chondrocalcinosis 147 3 1
Craniometaphyseal dysplasia 147 3 1
Enlarged parietal foramina 147 2 2
Larsen syndrome 147 2 2
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 147 2 3
Paramyotonia congenita of von Eulenburg 147 2 5
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 146 1 3
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 146 1 7
Lymphoproliferative syndrome 146 3 1
Maturity-onset diabetes of the young, type 2 146 1 13
Tumoral calcinosis, familial, hyperphosphatemic 146 4 9
Erythropoietic protoporphyria 145 1 6
Parkinson Disease, Dominant 145 8 1
Platelet-type bleeding disorder 9 145 2 1
Polydactyly 145 1 1
Skin fragility woolly hair syndrome 145 1 2
Syndromic intellectual disability 145 6 6
Epidermolysis bullosa, lethal acantholytic 144 1 2
Hennekam lymphangiectasia-lymphedema syndrome 144 2 6
Hereditary factor XI deficiency disease 144 1 6
MYH9-related disorder 144 2 1
Metaphyseal chondrodysplasia, McKusick type 144 1 4
Diastrophic dysplasia 143 1 6
Factor V deficiency 143 1 4
Multiple endocrine neoplasia, type 4 143 4 9
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 143 1 2
Shprintzen-Goldberg syndrome 143 3 10
Cowden syndrome 142 4 8
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 142 1 1
Cholestanol storage disease 141 2 17
Multiple myeloma 141 13 2
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 141 1 2
Neural tube defect 141 7 3
Potassium aggravated myotonia 141 2 3
Severe neonatal-onset encephalopathy with microcephaly 141 8 6
Adams-Oliver syndrome 140 5 4
Early infantile epileptic encephalopathy 9 140 2 14
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 140 1 1
Monogenic Non-Syndromic Obesity 140 7 1
Neoplasm of ovary 140 21 12
Stuve-Wiedemann syndrome 140 2 7
Ceroid lipofuscinosis neuronal 1 139 1 16
Cystinosis 139 2 5
Deafness, autosomal recessive 9 139 3 18
Fanconi anemia, complementation group J 139 1 6
Hyperekplexia 139 4 2
Preeclampsia 139 73 1
Thrombophilia due to activated protein C resistance 139 1 4
Trichorhinophalangeal Syndrome 139 1 1
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 138 2 4
Epileptic encephalopathy, early infantile, 23 138 1 3
Non-small cell lung cancer 138 21 4
Arterial calcification of infancy 137 1 6
Delta-sarcoglycanopathy 137 1 1
Dystonia 12 137 1 5
Polyglandular autoimmune syndrome, type 1 137 2 8
Alternating hemiplegia of childhood 136 2 1
Megaloblastic anemia due to inborn errors of metabolism 136 3 13
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 136 1 1
Choreoacanthocytosis 135 1 6
Congenital dyserythropoietic anemia 135 3 1
Gastrointestinal stroma tumor; Paragangliomas 3 135 1 1
Hereditary diffuse leukoencephalopathy with spheroids 135 4 8
Inclusion body myopathy 3 135 2 10
Myhre syndrome 135 1 9
Myosclerosis 135 2 1
beta Thalassemia 135 5 18
von Willebrand disorder 135 1 3
Familial Atypical Mycobacteriosis, Autosomal Recessive 134 4 1
Generalized epilepsy and paroxysmal dyskinesia 134 1 10
Hyperkalemic Periodic Paralysis 134 2 1
Kindler's syndrome 134 1 4
Luscan-lumish syndrome 134 1 4
ATR-X syndrome 133 1 12
Carney complex, type 1 133 2 3
Corneal Dystrophy, Recessive 133 2 1
Deficiency of ferroxidase 133 2 10
Hyperaldosteronism, familial, type I 133 4 2
Orotic aciduria 133 1 3
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 133 2 1
Short stature 133 66 3
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 132 1 2
Charcot-Marie-Tooth disease type 2P 132 1 8
Hereditary sensory neuropathy type IE 132 2 4
Uterine cervical neoplasms 132 17 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 131 1 4
Li-Fraumeni syndrome 1 131 1 16
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 131 2 6
Progressive myoclonus epilepsy with ataxia 131 2 9
Vici syndrome 131 1 15
Cerebrooculofacioskeletal Syndrome 130 3 1
Dihydropyrimidine dehydrogenase deficiency 130 1 9
FLNB-Related Spectrum Disorders 130 1 1
Glanzmann thrombasthenia 130 3 <