ClinVar Miner

Variants with conflicting interpretations, by condition

Submission 1 minimum review status: Submission 1 collection method:
Submission 2 minimum review status: Submission 2 collection method:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
808850 68795 1723 25643 20894 741 6009 49315
Total conditions with conflicts: 4473
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Filter Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 267189 29496 267 10768 11458 370 1966 22947
not specified 57975 24477 180 13053 9072 229 729 21163
Cardiovascular phenotype 2936 2895 0 1686 1073 7 137 2572
Hereditary cancer-predisposing syndrome 51244 14342 0 917 1221 1 153 2262
none provided 1537 2081 69 1366 606 95 85 1919
History of neurodevelopmental disorder 1951 1138 0 1085 539 0 19 1482
Familial hypercholesterolemia 1 1389 554 0 672 266 0 382 1075
Breast-ovarian cancer, familial 2 3300 2324 0 313 424 0 61 647
Familial hypercholesterolemia 2332 206 0 331 226 0 241 628
Seizures 636 434 0 382 202 4 20 532
Breast-ovarian cancer, familial 1 5695 2116 0 207 299 1 82 473
Ataxia-telangiectasia syndrome 5460 609 0 208 125 0 15 320
Hereditary breast and ovarian cancer syndrome 10444 927 0 176 87 0 30 287
Nemaline myopathy 2 1919 483 1 87 182 0 13 274
RYR1-Related Disorders 1122 364 0 115 119 25 44 269
Cardiomyopathy 9075 490 1 122 105 0 15 243
Autosomal recessive polycystic kidney disease 848 153 0 108 120 0 35 239
Familial cancer of breast 5913 541 4 136 86 0 22 233
Spastic paraplegia 1321 264 0 142 103 1 14 229
Primary ciliary dyskinesia 4555 334 0 67 156 0 2 225
Charcot-Marie-Tooth disease, type 2 1532 395 2 114 97 0 38 222
Cystic fibrosis 1117 567 1 138 41 0 69 220
Phenylketonuria 436 124 17 143 12 0 50 209
Neurofibromatosis, type 1 4817 342 0 102 48 0 63 202
Colorectal cancer, susceptibility to, 12 2886 675 0 102 107 2 4 199
Glycogen storage disease, type II 676 195 5 125 51 3 27 198
Familial thoracic aortic aneurysm and aortic dissection 4163 286 0 97 99 0 11 197
Breast and/or ovarian cancer 129 245 15 101 98 7 34 196
Fanconi anemia, complementation group A 655 261 2 100 61 0 34 184
Cohen syndrome 1188 196 22 76 84 0 14 175
Wilson disease 543 119 4 92 60 0 31 169
Fanconi anemia 3656 253 2 81 64 0 27 161
Laminin alpha 2-related dystrophy 653 158 0 67 90 0 7 146
Limb-Girdle Muscular Dystrophy, Recessive 238 151 0 64 85 0 5 146
Dilated Cardiomyopathy, Dominant 304 90 0 59 88 1 4 139
Hypertrophic cardiomyopathy 3938 237 0 81 15 0 43 136
Non-ketotic hyperglycinemia 631 88 20 68 51 0 19 136
See cases 24484 414 15 24 58 1 51 135
Colorectal cancer 10 1459 415 0 81 61 3 0 131
Jeune thoracic dystrophy 418 13 0 101 18 0 22 131
Familial adenomatous polyposis 1 4669 314 3 48 81 1 2 123
Very long chain acyl-CoA dehydrogenase deficiency 471 110 6 70 28 0 37 122
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 993 130 0 62 59 0 1 121
Lynch syndrome 2408 229 41 54 20 0 8 118
Ehlers-Danlos syndrome, type 7A 134 52 0 75 42 0 0 115
Retinitis pigmentosa 4772 120 4 46 19 0 51 115
Brugada syndrome 1989 148 0 46 55 0 18 113
Congenital muscular dystrophy due to partial LAMA2 deficiency 87 77 0 35 72 0 4 107
Hereditary diffuse gastric cancer 1378 206 0 68 46 0 3 106
Propionic acidemia 350 56 12 42 45 0 14 106
Rare genetic deafness 423 197 0 73 0 1 30 100
Retinitis Pigmentosa, Recessive 231 128 4 53 53 2 7 100
Limb-girdle muscular dystrophy, type 2A 399 96 4 63 26 0 14 99
Niemann-Pick disease type C1 384 69 7 61 28 0 12 98
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2125 173 0 56 39 0 9 97
Marfan syndrome 1401 79 1 61 22 0 15 96
Spastic paraplegia 11, autosomal recessive 894 42 41 23 35 0 5 96
ABCA4-Related Disorders 52 68 4 36 47 4 22 95
Biotinidase deficiency 217 32 5 46 5 0 56 95
Brugada syndrome 1 123 86 0 41 47 0 15 95
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 283 36 2 52 8 0 39 95
Qualitative or quantitative defects of dysferlin 751 41 0 13 81 0 0 94
Rasopathy 1093 170 6 45 20 0 13 83
Bloom syndrome 1142 234 0 46 43 0 3 82
WFS1-Related Spectrum Disorders 92 43 1 46 36 0 4 81
CFTR-related disorders 68 37 0 26 44 7 28 80
Smith-Lemli-Opitz syndrome 206 38 12 45 22 0 13 79
Aortic aneurysm, familial thoracic 4 558 73 0 32 50 0 0 78
Progressive sclerosing poliodystrophy 630 108 0 28 22 0 31 77
Maple syrup urine disease 602 41 3 41 18 0 14 73
Retinal dystrophy 2885 69 0 48 1 0 24 72
Glycogen storage disease type III 687 100 9 46 21 0 4 70
Charcot-Marie-Tooth disease 3086 49 0 4 14 0 54 69
APC-Associated Polyposis Disorders 83 43 8 36 38 0 0 68
Metachromatic leukodystrophy 363 32 11 45 9 1 12 68
Parkinson disease 8, autosomal dominant 256 8 25 15 43 1 4 68
Cone-Rod Dystrophy, Recessive 30 60 4 43 29 2 7 65
Deficiency of alpha-mannosidase 256 44 5 25 29 0 15 65
Ehlers-Danlos syndrome, type 4 828 67 0 48 14 0 5 65
Galactosylceramide beta-galactosidase deficiency 316 42 0 35 20 3 11 65
Cholestanol storage disease 163 11 33 27 15 0 9 63
Medium-chain acyl-coenzyme A dehydrogenase deficiency 201 48 0 42 8 0 16 62
POLG-Related Spectrum Disorders 46 26 0 18 40 0 10 62
Familial Mediterranean fever 279 125 0 19 35 0 25 61
Primary hyperoxaluria, type I 227 20 0 36 27 0 2 61
MYH-associated polyposis 829 124 1 32 20 0 13 60
Alstrom syndrome 1254 240 0 24 36 0 1 59
Bare lymphocyte syndrome 2 618 101 0 15 42 0 3 59
Renal carnitine transport defect 332 72 0 37 18 0 11 59
Tay-Sachs disease 217 43 0 34 14 2 10 59
Tuberous sclerosis 1 1500 173 0 32 30 0 1 59
Aortic aneurysm, familial thoracic 7 532 52 0 18 38 0 3 58
Charlevoix-Saguenay spastic ataxia 610 38 0 23 36 0 2 58
Congenital disorder of glycosylation, type Ia 183 22 10 37 7 0 11 58
FLNB-Related Spectrum Disorders 152 49 0 30 29 0 0 58
Glutaric aciduria, type 1 210 27 0 33 11 0 16 58
Classic homocystinuria 278 62 0 37 14 0 8 57
Finnish congenital nephrotic syndrome 231 21 24 30 8 0 6 57
Stargardt Disease, Recessive 3 49 4 40 26 2 6 57
Kabuki syndrome 1 478 50 0 39 17 0 5 56
Mucopolysaccharidosis, MPS-III-A 191 31 0 23 31 0 5 56
Pendred syndrome 301 37 3 35 13 0 8 56
Peroxisome biogenesis disorder 1A (Zellweger) 277 46 0 27 29 0 3 56
Charcot-Marie-Tooth disease, type I 408 68 0 23 23 0 13 55
Long QT syndrome 4142 62 0 23 21 2 13 55
Tuberous sclerosis 2 3762 85 0 24 24 0 9 54
Gastrointestinal stromal tumor 2324 47 0 14 33 0 7 53
Stargardt disease 1 343 32 0 47 1 1 7 53
Werner syndrome 1347 56 4 14 35 0 2 53
Arrhythmogenic right ventricular dysplasia 9 488 55 0 28 28 0 1 52
Hereditary melanoma 626 139 3 25 25 0 6 52
Chédiak-Higashi syndrome 644 80 4 12 38 0 2 51
Citrullinemia type I 201 32 0 34 16 0 8 51
Deafness, autosomal recessive 1A 133 42 12 33 7 0 8 51
Deafness, autosomal recessive 77 265 39 0 17 40 0 0 51
Dilated cardiomyopathy 1DD 555 36 0 17 36 0 1 51
Microcephaly, normal intelligence and immunodeficiency 1202 168 0 28 25 0 1 51
Peutz-Jeghers syndrome 899 92 0 25 31 0 3 51
Ehlers-Danlos syndrome dermatosparaxis type 318 92 0 15 37 0 0 50
Hereditary hemorrhagic telangiectasia type 1 288 54 0 31 16 0 3 49
Hereditary insensitivity to pain with anhidrosis 282 74 3 10 35 0 2 48
Li-Fraumeni syndrome 1109 43 0 15 26 0 9 48
Gorlin syndrome 1974 77 0 23 22 0 5 47
Glycogen storage disease, type V 235 41 0 19 30 0 3 46
Spherocytosis 141 15 0 10 36 0 0 46
Type II Collagenopathies 43 34 0 30 20 0 0 46
Autosomal recessive retinitis pigmentosa 177 70 0 27 10 0 10 45
Elliptocytosis 0 110 0 38 7 0 0 45
Familial hypertrophic cardiomyopathy 4 177 57 0 31 8 0 8 45
Alport syndrome 1, X-linked recessive 899 65 20 20 4 0 4 44
CDH23-Related Disorders 32 23 0 1 43 0 0 44
Lynch syndrome I 478 67 0 21 28 0 2 44
Nonsyndromic Hearing Loss, Recessive 123 38 0 19 25 0 0 44
Familial hyperkalemic periodic paralysis 572 62 0 22 19 0 2 43
Primary autosomal recessive microcephaly 5 387 49 22 10 12 0 4 43
Stickler Syndrome, Dominant 39 34 0 27 16 0 0 43
Ehlers-Danlos syndrome, classic type 1142 93 1 15 21 0 5 42
GLUT1 deficiency syndrome 1, autosomal recessive 149 49 0 21 25 0 3 42
Severe combined immunodeficiency due to ADA deficiency 135 25 0 21 12 0 11 42
beta Thalassemia 234 73 2 35 6 0 3 42
Arrhythmogenic right ventricular cardiomyopathy, type 10 412 28 0 21 16 0 6 41
Congenital contractural arachnodactyly 745 97 0 27 13 0 1 41
Hereditary hemorrhagic telangiectasia 260 49 0 24 15 0 3 41
Hereditary hyperinsulinism 64 28 0 19 24 0 1 41
Hereditary pancreatitis 298 30 0 14 14 3 16 41
Kabuki syndrome 288 33 0 24 17 0 4 41
PTEN hamartoma tumor syndrome 870 62 0 22 8 0 16 41
Spherocytosis, Dominant 12 96 0 35 6 0 0 41
Congenital hyperammonemia, type I 315 50 0 15 22 0 6 40
Familial hypertrophic cardiomyopathy 1 387 36 0 22 7 0 12 40
Retinoblastoma 974 37 0 22 17 0 2 40
Tyrosinemia type I 146 23 7 17 16 1 6 40
Brain small vessel disease 1 with or without ocular anomalies 123 35 7 24 8 0 0 39
Charcot-Marie-Tooth disease, axonal, type 2O 747 56 0 18 22 0 0 39
Familial hypercholesterolemia 3 176 22 0 21 17 3 4 39
Mucopolysaccharidosis type 1 199 46 0 8 27 4 1 39
Short rib-polydactyly syndrome, Majewski type 128 15 0 27 7 0 5 39
Argininosuccinate lyase deficiency 155 25 2 17 11 0 10 38
Fabry disease 318 72 0 20 10 1 13 38
Neuroblastoma 3 1576 96 4 12 20 4 3 38
ANO5-Related Muscle Diseases 32 66 0 14 25 0 1 37
Hereditary nonpolyposis colorectal cancer type 7 443 20 0 21 14 0 4 37
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 251 53 0 23 13 0 4 37
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 374 19 0 6 30 0 1 37
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 52 66 0 13 23 1 0 36
Mucolipidosis type IV 144 20 0 18 20 0 0 36
Myofibrillar Myopathy, Dominant 36 42 0 21 15 0 0 36
Autosomal recessive congenital ichthyosis 1 196 20 0 22 11 0 6 35
Charcot-Marie-Tooth Neuropathy X 159 46 0 22 2 0 13 35
Familial cold autoinflammatory syndrome 2 343 30 0 14 17 0 5 35
Cutaneous malignant melanoma 5 217 19 0 19 15 1 0 34
Deafness, autosomal recessive 9 275 15 12 11 5 2 6 34
Oligodontia-colorectal cancer syndrome 1358 49 0 23 12 0 0 34
Severe myoclonic epilepsy in infancy 521 105 0 14 5 0 16 34
Spastic paraplegia 48, autosomal recessive 371 29 0 12 21 0 1 34
Adrenoleukodystrophy 346 44 0 18 6 0 11 33
Alport syndrome 487 64 5 15 15 0 1 33
Aspartylglucosaminuria 105 14 7 17 12 0 3 33
Familial hemophagocytic lymphohistiocytosis 3 319 42 0 6 27 0 1 33
Generalized juvenile polyposis/juvenile polyposis coli 904 43 3 12 20 0 0 33
Lynch syndrome II 253 31 0 12 25 0 3 33
Malignant hyperthermia, susceptibility to, 1 494 21 0 17 12 6 2 33
Pontoneocerebellar hypoplasia 159 43 0 15 17 0 2 33
Progressive familial heart block type IB 290 20 0 15 20 0 4 33
Usher syndrome, type 2A 524 52 0 16 16 0 3 33
Zellweger syndrome 200 31 0 16 16 0 3 33
Brain small vessel disease with hemorrhage 18 35 1 24 7 0 0 32
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 269 36 11 9 7 0 6 32
Early infantile epileptic encephalopathy with suppression bursts 3655 88 0 12 4 0 16 32
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 27 14 0 23 9 0 0 32
Hereditary nonpolyposis colorectal cancer type 4 187 39 0 19 13 0 3 32
Intellectual Disability, Recessive 54 9 0 13 19 0 0 32
Myotonia congenita 47 32 11 9 7 0 6 32
Primary familial hypertrophic cardiomyopathy 600 46 0 16 7 0 10 32
Usher syndrome type 1 791 69 0 16 10 0 8 32
desflurane response - Toxicity/ADR 0 14 0 0 0 32 0 32
enflurane response - Toxicity/ADR 0 14 0 0 0 32 0 32
halothane response - Toxicity/ADR 0 14 0 0 0 32 0 32
isoflurane response - Toxicity/ADR 0 14 0 0 0 32 0 32
methoxyflurane response - Toxicity/ADR 0 14 0 0 0 32 0 32
sevoflurane response - Toxicity/ADR 0 14 0 0 0 32 0 32
succinylcholine response - Toxicity/ADR 0 14 0 0 0 32 0 32
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 338 8 2 8 0 27 2 31
Isolated Nonsyndromic Congenital Heart Disease 91 22 0 21 13 0 1 31
Neuronal ceroid lipofuscinosis 1091 53 0 7 19 0 5 31
Pyruvate carboxylase deficiency 198 13 5 10 14 0 3 31
Atypical hemolytic-uremic syndrome 1 29 55 1 7 21 3 0 30
CHARGE association 872 54 0 23 7 0 0 30
Carnitine palmitoyltransferase II deficiency 201 47 0 10 18 0 3 30
Central core myopathy 231 298 7 14 7 0 4 30
Isovaleryl-CoA dehydrogenase deficiency 174 22 0 21 4 0 5 30
Lysosomal acid lipase deficiency 106 35 0 12 15 0 4 30
Ataxia-telangiectasia-like disorder 1 163 46 0 14 15 0 4 29
Breast-ovarian cancer, familial 4 570 46 0 14 11 3 3 29
Congenital Muscular Dystrophy, alpha-dystroglycan related 211 19 0 14 14 0 2 29
Dilated cardiomyopathy 1W 334 21 0 7 21 0 1 29
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 169 18 0 22 7 0 2 29
Hereditary sensory neuropathy type IE 336 22 0 17 12 0 0 29
Holocarboxylase synthetase deficiency 230 24 0 13 15 0 3 29
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 589 73 0 9 21 0 1 29
Long QT syndrome 1 220 51 0 19 6 0 5 29
Macular dystrophy 27 13 0 20 1 1 11 29
Mucopolysaccharidosis type 6 338 34 0 16 8 0 6 29
Rett syndrome 499 50 0 17 2 0 11 29
Short-rib thoracic dysplasia 3 with or without polydactyly 299 82 0 17 10 0 5 29
Usher syndrome, type 2A; Retinitis pigmentosa 39 411 30 0 9 0 0 20 29
Alpha-1-antitrypsin deficiency 167 16 0 15 12 0 6 28
Deficiency of ferroxidase 167 18 9 13 5 0 4 28
Epilepsy, focal, with speech disorder and with or without mental retardation 658 34 0 19 6 0 3 28
Familial dysautonomia 328 74 0 10 18 0 0 28
Glycogen storage disease, type IV 65 27 6 9 13 0 3 28
Neurodevelopmental disorder 260 23 0 20 2 1 8 28
carboxymethyl-dextran-A2-gadolinium-DOTA 45 39 0 21 7 0 0 28
Aniridia, Cerebellar Ataxia, And Intellectual Disability 0 51 0 20 7 0 0 27
Arrhythmogenic right ventricular cardiomyopathy, type 11 353 27 0 9 20 0 0 27
Joubert syndrome 694 34 0 10 8 0 10 27
Lissencephaly, Recessive 67 11 0 7 20 0 0 27
Mucolipidosis type II 238 17 17 6 4 0 1 27
Polyglandular autoimmune syndrome, type 1 264 55 1 9 15 0 2 27
Primary dilated cardiomyopathy 1523 36 0 11 9 0 7 27
Schimke immuno-osseous dysplasia 162 35 0 7 19 0 2 27
Ataxia-telangiectasia-like disorder 293 42 0 14 13 0 3 26
Atypical Gaucher Disease 12 3 0 13 14 0 0 26
Autosomal recessive DOPA responsive dystonia 197 23 1 9 12 0 4 26
Bardet-Biedl syndrome 1 166 49 0 19 2 0 5 26
Deficiency of acetyl-CoA acetyltransferase 165 31 0 17 5 0 6 26
Leukocyte adhesion deficiency 1 274 44 0 11 15 0 2 26
Malignant melanoma of skin 237 17 0 26 0 0 0 26
Melanoma 131 17 0 26 0 0 0 26
Mucopolysaccharidosis, MPS-III-B 140 14 0 17 5 0 6 26
Osteogenesis Imperfecta, Recessive 60 10 0 9 17 0 0 26
Perlman syndrome 880 44 0 4 21 0 1 26
Pitt-Hopkins-like syndrome 2 572 25 0 8 17 0 1 26
Stargardt disease 114 15 0 24 0 1 3 26
Carnitine palmitoyltransferase 1A deficiency 165 29 13 5 7 0 5 25
Choreoacanthocytosis 259 33 0 14 14 0 0 25
Cystic fibrosis; CFTR-related disorders 14 34 0 15 0 0 12 25
Deafness, autosomal recessive 3 380 22 0 8 10 0 7 25
Fanconi anemia, complementation group C 283 26 0 19 6 0 1 25
Glanzmann thrombasthenia 322 25 0 16 3 0 6 25
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 54 19 4 9 13 0 1 25
Hereditary spastic paraplegia 39 310 15 0 9 15 0 2 25
Lethal multiple pterygium syndrome 369 20 0 4 20 0 1 25
Lysinuric protein intolerance 169 25 3 10 11 0 2 25
Majeed syndrome 301 28 2 11 17 0 0 25
Multiple endocrine neoplasia, type 1 856 59 0 15 10 0 1 25
Neuronal ceroid lipofuscinosis 1 211 29 13 12 2 0 4 25
Niemann-Pick disease, type B; Niemann-Pick disease, type A 127 32 0 15 9 0 1 25
Pitt-Hopkins-like syndrome 1 616 61 0 7 19 0 0 25
Primary Microcephaly, Recessive 30 17 0 12 13 0 0 25
Primary hyperoxaluria, type II 102 7 2 13 11 0 1 25
Sandhoff disease 141 24 0 14 7 0 4 25
Sphingomyelin/cholesterol lipidosis 37 33 0 15 9 0 1 25
ivacaftor response - Efficacy 8 0 0 0 0 25 0 25
Cobalamin C disease 111 33 0 15 2 0 9 24
Combined malonic and methylmalonic aciduria 108 8 0 6 15 0 3 24
Ellis-van Creveld syndrome 556 46 0 14 8 0 4 24
Familial platelet disorder with associated myeloid malignancy 533 46 0 12 8 0 4 24
Hereditary nonpolyposis colorectal cancer type 5 369 63 0 8 18 0 0 24
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 6 23 0 13 12 0 3 24
Pierson syndrome 77 33 0 7 17 0 0 24
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 200 34 0 7 17 0 0 24
Usher syndrome, type 1B 190 66 0 11 10 0 4 24
Arterial tortuosity syndrome 202 24 0 10 14 0 4 23
Atrial fibrillation, familial, 7 160 7 0 9 13 0 2 23
Deficiency of pyrroline-5-carboxylate reductase 113 4 0 9 13 0 2 23
Dyskeratosis congenita 812 37 0 9 14 0 0 23
Familial hemophagocytic lymphohistiocytosis 2 185 22 0 7 13 0 3 23
Hereditary fructosuria 109 14 0 12 9 0 3 23
Hermansky-Pudlak syndrome 2 189 17 5 6 13 0 0 23
Multiple acyl-CoA dehydrogenase deficiency 272 29 0 9 11 0 4 23
Nephronophthisis 8 85 17 0 11 13 1 0 23
Niemann-Pick disease, type A 172 16 0 13 2 0 8 23
Noonan syndrome 509 45 0 11 5 0 7 23
Renal cell carcinoma, papillary, 1 631 47 0 13 13 0 0 23
Salla disease 108 15 4 16 7 0 1 23
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 236 21 0 7 16 0 0 23
Spastic paraplegia 49, autosomal recessive 180 50 0 2 21 0 0 23
Deficiency of galactokinase 94 11 0 9 11 0 3 22
Dilated cardiomyopathy 1O 331 8 0 6 16 0 0 22
Focal segmental glomerulosclerosis 5 82 40 0 7 16 0 0 22
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 337 35 0 7 16 0 0 22
Hereditary factor XI deficiency disease 181 8 0 13 2 0 8 22
Multiple endocrine neoplasia, type 2a 187 23 0 13 7 0 3 22
Neuromuscular disease, congenital, with uniform type 1 fiber 2 296 1 12 7 0 2 22
Polycystic kidney disease, adult type 693 52 0 7 9 1 7 22
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 159 31 0 13 11 0 0 22
Saldino-Mainzer syndrome 435 71 0 7 13 0 2 22
Spongy degeneration of central nervous system 76 10 0 12 3 0 8 22
Autosomal recessive limb-girdle muscular dystrophy type 2D 140 32 0 10 8 0 3 21
Bardet-Biedl syndrome 2 126 17 0 10 9 0 2 21
CHEK2-Related Cancer Susceptibility 10 12 0 5 12 2 4 21
Cystinuria 191 10 0 8 9 0 4 21
Deficiency of butyryl-CoA dehydrogenase 162 16 0 9 2 0 14 21
Duchenne muscular dystrophy 2251 70 0 16 3 0 4 21
Epileptic encephalopathy 1924 43 0 15 4 1 4 21
Fibrous dysplasia of jaw 289 13 0 6 16 0 1 21
Gaucher disease 49 16 15 6 0 0 2 21
Hyperekplexia 1 93 13 12 6 4 0 1 21
Hypoplasia of the iris 0 40 0 9 11 0 1 21
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 62 22 0 20 0 0 1 21
Microcephalic osteodysplastic primordial dwarfism type II 439 62 0 11 9 0 1 21
Multiple exostoses type 2 199 15 0 9 9 0 3 21
Multiple fibrofolliculomas 729 49 2 12 6 0 2 21
PITX2-Related Eye Abnormalities 2 40 0 9 11 0 1 21
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 305 17 0 8 13 0 0 21
Polycystic kidney disease 4 15 6 0 17 2 0 7 21
Tramadol response 1588 1 0 0 0 21 0 21
Tumor susceptibility linked to germline BAP1 mutations 738 42 0 10 9 0 2 21
Vitamin B12-responsive methylmalonic acidemia type cblB 160 22 0 9 10 0 4 21
Breast cancer, susceptibility to 16 6 0 5 1 15 0 20
Cornelia de Lange syndrome 1 468 33 0 7 8 0 6 20
Dilated Cardiomyopathy, Recessive 216 8 0 18 2 0 0 20
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 463 15 0 6 13 0 1 20
Early infantile epileptic encephalopathy 12 622 23 0 5 15 0 0 20
Ehlers-Danlos syndrome, hydroxylysine-deficient 256 42 0 4 15 0 1 20
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 62 8 0 15 2 0 3 20
Glucose-6-phosphate transport defect 446 46 0 12 4 0 4 20
Hereditary spastic paraplegia 7 187 31 0 7 9 0 4 20
Holoprosencephaly 3 46 0 19 2 0 0 2 20
Hyperinsulinemic hypoglycemia, familial, 1 285 24 0 15 2 0 4 20
Leber congenital amaurosis 4 162 6 4 4 11 0 3 20
Leber hereditary optic neuropathy 33 0 16 2 0 0 3 20
Leigh syndrome 2760 36 0 12 3 0 5 20
Mental retardation, CASK-related, X-linked 60 13 0 10 14 0 0 20
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 82 9 0 15 2 0 3 20
Muscle eye brain disease 129 2 10 9 0 0 3 20
Myopathy, centronuclear, 2 202 11 0 7 13 0 1 20
Nephrotic syndrome, type 4 86 21 0 6 13 0 1 20
Neuronal ceroid lipofuscinosis 5 126 13 7 7 5 0 5 20
Neutral lipid storage myopathy 189 23 0 4 16 0 0 20
Ornithine aminotransferase deficiency 142 16 1 10 5 0 5 20
Telangiectasia, hereditary hemorrhagic, type 2 350 33 0 12 2 0 6 20
Achromatopsia 3 207 7 2 15 1 0 2 19
Alkaptonuria 108 9 10 7 2 0 1 19
Combined oxidative phosphorylation deficiency 14 155 15 0 12 3 0 4 19
Congenital disorder of glycosylation type 2i 151 5 0 5 14 0 0 19
Dilated cardiomyopathy 1KK 425 27 0 15 6 0 4 19
Early infantile epileptic encephalopathy 2 165 19 0 11 1 0 7 19
Familial hypokalemia-hypomagnesemia 224 41 0 9 7 0 3 19
Fumarase deficiency 616 44 2 7 10 0 5 19
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 14 4 0 8 11 0 0 19
Limb-Girdle Muscular Dystrophy, Dominant 32 22 0 12 7 0 0 19
Mental retardation, autosomal recessive 15 119 26 0 7 10 0 2 19
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 33 9 0 9 10 0 0 19
Arrhythmogenic right ventricular cardiomyopathy 444 16 0 8 8 0 2 18
Autoimmune lymphoproliferative syndrome 191 10 0 8 10 0 2 18
Autosomal recessive limb-girdle muscular dystrophy type 2B 412 27 0 13 4 0 2 18
Bardet-Biedl syndrome 1611 38 2 10 2 0 4 18
Charcot-Marie-Tooth disease axonal type 2C 295 55 0 11 6 0 1 18
Ciliary dyskinesia, primary, 3 429 34 2 8 3 0 6 18
Glycogen storage disease, type VI 99 13 6 4 2 0 7 18
Hyperphosphatasia with mental retardation syndrome 2 346 24 0 6 9 0 3 18
Isolated coronal synostosis 72 9 0 12 6 0 0 18
Isolated thoracic aortic aneurysm 70 11 0 12 2 0 5 18
Joubert syndrome 17 250 14 5 7 3 0 4 18
Neurofibromatosis, type 2 650 21 0 7 11 0 1 18
Neuronal ceroid lipofuscinosis 3 138 3 12 5 1 0 1 18
Pancreatic cancer 1 82 10 0 5 13 1 0 18
Retinitis pigmentosa 25 146 20 0 11 4 0 3 18
Transcolabamin II deficiency 146 20 0 7 11 0 0 18
3-methylcrotonyl CoA carboxylase 2 deficiency 158 11 0 7 7 0 5 17
Acrocallosal syndrome 185 27 0 7 10 0 1 17
Carney complex, type 1 302 7 7 4 5 0 1 17
Ceroid lipofuscinosis neuronal 2 157 24 2 12 2 0 1 17
Charcot-Marie-Tooth disease type 2P 280 33 0 6 9 0 2 17
Dystonia 12 279 28 1 11 5 0 1 17
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 16 15 0 9 7 0 3 17
Factor V deficiency 217 14 0 6 9 1 1 17
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 124 12 2 4 11 0 0 17
Immunodeficiency 51 336 23 0 1 16 0 0 17
Inherited Erythromelalgia 41 28 0 12 6 0 0 17
MPI-CDG 108 10 0 6 11 0 0 17
Mitochondrial diseases 74 23 2 11 5 0 5 17
Neuropathy, hereditary sensory and autonomic, type 1A 31 13 3 8 6 0 2 17
Pyridoxine-dependent epilepsy 322 22 0 4 10 0 3 17
Romano-Ward syndrome 587 33 0 11 5 0 1 17
SEPN1-Related Disorders 79 15 0 6 11 0 0 17
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 401 18 0 3 14 0 0 17
Short Rib Polydactyly Syndrome 41 55 0 8 8 0 1 17
Spastic paraplegia 4, autosomal dominant 345 25 0 11 2 0 6 17
Abnormality of brain morphology 71 4 0 3 1 0 13 16
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 101 16 0 4 10 0 2 16
Colorectal cancer, non-polyposis 3 5 4 1 15 0 1 16
Cranioectodermal dysplasia 1 98 18 6 7 2 0 2 16
Dihydropyrimidine dehydrogenase deficiency 161 8 0 6 4 0 7 16
Dilated cardiomyopathy 1JJ 330 41 0 14 1 0 1 16
Epidermolysis bullosa dystrophica inversa, autosomal recessive 143 69 0 4 10 0 2 16
Giant axonal neuropathy 1 315 20 0 5 5 0 7 16
Hemochromatosis type 3 99 12 4 1 9 0 2 16
Hereditary leiomyomatosis and renal cell cancer 71 29 0 10 6 0 0 16
Hereditary sensory and autonomic neuropathy type 1 92 13 3 7 6 0 2 16
Idiopathic nephrotic syndrome 89 18 0 10 2 0 6 16
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 118 21 0 4 10 0 2 16
Joubert syndrome; Meckel-Gruber syndrome 889 22 0 7 8 0 1 16
Juvenile myoclonic epilepsy 166 9 0 4 10 1 2 16
Maple syrup urine disease, type 3 123 21 0 9 7 0 0 16
Megalencephalic leukoencephalopathy with subcortical cysts 1 155 14 3 8 2 0 5 16
Mucopolysaccharidosis, MPS-IV-A 186 24 2 7 6 0 1 16
Multiple sulfatase deficiency 129 12 0 7 9 0 1 16
Neonatal pseudo-hydrocephalic progeroid syndrome 11 0 0 15 0 0 1 16
Netherton syndrome 253 39 0 8 8 0 1 16
Niemann-Pick disease, type C 20 7 3 14 1 0 1 16
Peroxisome biogenesis disorder 6A 59 14 0 4 12 0 0 16
Peroxisome biogenesis disorder, complementation group 7 73 14 0 4 12 0 0 16
Pseudoxanthoma elasticum 349 21 0 11 0 0 5 16
Renal cysts and diabetes syndrome 261 21 0 6 5 0 5 16
Toe walking 7 8 0 1 10 1 6 16
Von Hippel-Lindau syndrome 452 54 0 9 4 0 4 16
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 44 8 0 7 8 0 0 15
Candidiasis, familial, 2 162 19 0 6 8 0 3 15
Congenital disorder of glycosylation type 1M 167 2 0 1 14 0 0 15
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 219 13 0 8 1 0 6 15
Epilepsy, familial focal, with variable foci 1 169 34 0 5 7 0 3 15
Fanconi anemia, complementation group O 708 30 0 6 7 0 3 15
Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease type 3C 9 8 11 4 0 0 1 15
Histiocytic medullary reticulosis 303 18 0 5 10 0 0 15
Hypercholesterolaemia 12 10 0 5 6 0 5 15
Inflammatory bowel disease 28, autosomal recessive 145 23 0 9 7 0 0 15
Multiple Cutaneous and Uterine Leiomyomas 0 24 0 9 6 0 0 15
Obesity 125 3 2 3 4 3 6 15
Osteochondrodysplasia 144 8 0 7 8 0 0 15
Paroxysmal nonkinesigenic dyskinesia 1 74 11 0 10 2 0 3 15
Peroxisomal acyl-CoA oxidase deficiency 201 15 0 4 12 0 0 15
Pitt-Hopkins syndrome 345 21 0 12 2 0 1 15
Primary hyperoxaluria, type III 123 10 0 6 4 0 7 15
Sitosterolemia 43 14 0 10 5 0 0 15
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 102 8 0 10 3 0 2 15
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 3 19 0 4 10 0 1 15
Wolman disease 9 39 0 7 8 0 0 15
Alpha thalassemia-X-linked intellectual disability syndrome 358 24 0 6 8 0 1 14
Autosomal recessive osteopetrosis 1 214 25 0 6 6 0 3 14
BH4-deficient hyperphenylalaninemia A 62 8 0 9 1 0 4 14
Bethlem myopathy 1 2045 27 0 4 2 0 9 14
Biotin-responsive basal ganglia disease 226 19 0 7 8 0 0 14
Catecholaminergic polymorphic ventricular tachycardia 2001 11 0 8 3 0 3 14
Charcot-Marie-Tooth disease, dominant intermediate B 340 23 0 9 5 0 0 14
Congenital disorder of glycosylation type 1C 116 17 0 8 6 0 1 14
Congenital muscular hypertrophy-cerebral syndrome 233 14 0 5 2 0 7 14
Donnai-Barrow syndrome 403 8 8 2 3 0 1 14
FGFR2 related craniosynostosis 51 18 0 12 3 0 0 14
Familial focal epilepsy with variable foci 435 21 0 4 7 0 3 14
Fatal Infantile Cardioencephalomyopathy 8 3 0 8 7 0 0 14
GNE myopathy 201 17 0 9 2 0 4 14
Global developmental delay 93 18 0 8 5 1 4 14
Glycogen storage disease IXb 138 8 0 3 9 0 2 14
Mucolipidosis type III gamma 136 10 5 1 5 0 3 14
Mucopolysaccharidosis, MPS-III-C 178 17 0 7 4 0 3 14
Navajo neurohepatopathy 51 10 8 5 0 0 3 14
Niemann-Pick disease, type C2 30 8 8 6 1 0 3 14
Sitosterolemia 1 148 13 0 9 5 0 0 14
Sjögren-Larsson syndrome 142 13 0 9 4 0 1 14
Supravalvar aortic stenosis 224 25 0 7 7 0 0 14
Tubulinopathies 70 27 0 13 0 0 2 14
UDPglucose-4-epimerase deficiency 65 5 5 6 3 0 3 14
3 Methylcrotonyl-CoA carboxylase 1 deficiency 163 24 0 4 8 0 1 13
ANKRD1-related dilated cardiomyopathy 60 15 0 8 6 0 0 13
Abetalipoproteinaemia 137 13 0 6 7 0 1 13
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 55 8 0 2 2 0 11 13
Autosomal recessive cutis laxa type 1B 124 17 0 5 8 0 1 13
Bietti crystalline corneoretinal dystrophy 169 1 8 3 0 0 3 13
Cardiac arrhythmia, ankyrin B-related 242 15 0 6 4 0 4 13
Charcot-Marie-Tooth disease, type 4C 564 1 10 3 1 0 2 13
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 123 16 0 6 8 0 2 13
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 129 0 9 1 1 0 3 13
Congenital amegakaryocytic thrombocytopenia 107 9 0 7 7 0 0 13
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 227 31 0 1 11 0 2 13
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 210 16 0 6 7 0 0 13
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 125 1 0 1 11 0 1 13
Dystrophic epidermolysis bullosa 382 17 0 2 8 0 3 13
Ethylmalonic encephalopathy 72 15 0 5 8 0 0 13
Fanconi anemia, complementation group E 145 27 0 4 9 0 1 13
Fanconi anemia, complementation group J 226 27 0 6 7 0 0 13
Hemoglobin E 4 1 0 1 7 5 4 13
Hemophagocytic lymphohistiocytosis, familial, 5 186 23 0 4 9 0 0 13
Hereditary spastic paraplegia 3A 126 21 6 3 3 0 2 13
Immunodeficiency 30 167 25 0 2 11 0 0 13
Immunodeficiency 35 270 37 0 5 8 0 0 13
Joubert syndrome 1 96 32 0 2 8 0 3 13
Li-Fraumeni syndrome 1 157 16 0 3 9 0 2 13
Lynch-like syndrome 89 38 0 3 1 0 10 13
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 20 5 9 3 3 0 0 13
Microphthalmia, isolated 2 94 1 0 2 10 0 1 13
Nonsyndromic Hearing Loss, Dominant 48 39 0 6 5 0 2 13
Orthostatic hypotension 1 135 20 0 5 8 0 0 13
Roberts-SC phocomelia syndrome 96 9 7 5 2 0 0 13
Seizures; Intellectual disability 68 13 0 5 5 1 4 13
Somatotroph adenoma 90 0 2 5 5 0 4 13
Spastic Paraplegia, Recessive 18 5 0 6 7 0 1 13
Sphingolipid activator protein 1 deficiency 108 6 0 5 8 0 0 13
Succinate-semialdehyde dehydrogenase deficiency 283 34 0 5 7 0 1 13
Surfactant metabolism dysfunction, pulmonary, 3 222 13 0 3 9 0 1 13
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 73 9 0 5 4 0 5 13
ALG12-congenital disorder of glycosylation 88 9 0 5 6 0 1 12
Abnormality of coagulation 15 5 0 4 2 0 6 12
Alzheimer disease 114 8 4 4 3 0 1 12
Amelocerebrohypohidrotic syndrome 215 12 0 7 6 0 0 12
Antithrombin III deficiency 105 8 0 9 3 0 4 12
Autoimmune lymphoproliferative syndrome, type 2A 96 11 1 6 2 0 4 12
Bardet-Biedl syndrome 10 168 13 0 3 5 0 4 12
Bardet-Biedl syndrome 12 103 24 0 7 4 0 1 12
Bifunctional peroxisomal enzyme deficiency 132 12 0 10 2 0 0 12
Ciliary dyskinesia, primary, 19 69 8 5 2 4 0 2 12
Familial hypercholesterolemia 4 126 9 0 3 11 0 2 12
Familial isolated deficiency of vitamin E 88 5 4 7 1 0 3 12
Idiopathic basal ganglia calcification 1 98 0 2 10 0 0 0 12
Isolated sulfite oxidase deficiency 102 7 0 6 4 0 3 12
Lethal Encephalopathy 11 4 0 6 6 0 0 12
Leukoencephalopathy with vanishing white matter 279 14 0 4 3 0 5 12
MYH9-related disorder 227 4 7 3 3 0 0 12
Merosin deficient congenital muscular dystrophy 263 16 3 8 0 0 2 12
Monogenic Non-Syndromic Obesity 114 3 0 6 6 0 0 12
Nemaline myopathy 6 192 23 0 7 4 0 1 12
Osteogenesis imperfecta type 8 170 24 0 7 5 0 0 12
Paroxysmal non-kinesigenic dyskinesia 115 9 0 9 1 0 2 12
Peters plus syndrome 104 5 2 3 7 0 0 12
Shprintzen-Goldberg syndrome 205 26 0 6 3 0 3 12
Spondyloepiphyseal dysplasia with congenital joint dislocations 228 6 0 0 8 0 4 12
TNF receptor-associated periodic fever syndrome (TRAPS) 165 26 0 4 9 0 1 12
Transient Neonatal Diabetes, Recessive 41 8 0 6 6 0 0 12
Usher syndrome 132 8 1 7 2 0 2 12
ALS2-Related Disorders 86 19 0 2 10 0 1 11
Adams-Oliver syndrome 5 910 8 0 6 1 0 4 11
Adenylosuccinate lyase deficiency 183 19 0 1 5 0 5 11
Amyotrophic Lateral Sclerosis, Dominant 31 35 0 10 2 0 2 11
Amyotrophic lateral sclerosis type 10 71 7 0 7 0 0 5 11
Angelman syndrome 278 23 0 2 9 0 0 11
Arthrogryposis multiplex congenita distal 17 1 0 4 7 0 0 11
Autoimmune lymphoproliferative syndrome, type 2A; Autoimmune lymphoproliferative syndrome type 2 84 11 0 6 2 0 3 11
COG7 congenital disorder of glycosylation 78 5 0 3 7 0 1 11
Capillary malformation-arteriovenous malformation 112 10 0 8 3 0 0 11
Capillary malformation-arteriovenous malformation 1 122 12 0 8 3 0 0 11
Charcot-Marie-Tooth disease type 4 2221 33 0 1 7 0 3 11
Common variable immunodeficiency 4 44 1 0 4 8 1 0 11
Congenital disorder of glycosylation type 1t 70 11 0 6 5 0 0 11
Congenital myasthenic syndrome 312 19 0 1 10 0 0 11
Cornelia de Lange syndrome 3 96 6 0 2 9 0 0 11
Disseminated atypical mycobacterial infection 121 14 0 7 3 0 1 11
Epilepsy, childhood absence 2; Familial febrile seizures 8 129 6 0 6 5 0 0 11
Familial hemiplegic migraine 268 14 0 8 3 0 0 11
Fanconi anemia, complementation group G 105 13 4 2 3 0 2 11
Glycogen storage disease, type VII 86 16 0 7 6 0 0 11
Hereditary factor VIII deficiency disease 412 41 0 6 3 0 3 11
Hyperammonemia, type III 63 13 0 4 8 0 0 11
Hypomyelinating leukodystrophy 7 195 4 8 0 0 0 3 11
Intellectual disability, autosomal dominant 9 44 8 0 10 0 0 1 11
Isolated macular dystrophy 6 1 0 8 0 0 6 11
Junctional epidermolysis bullosa gravis of Herlitz 428 12 3 8 0 0 0 11
Leber congenital amaurosis 2; Retinitis pigmentosa 20 135 9 0 8 0 0 3 11
Leber congenital amaurosis 3 119 15 4 0 6 0 1 11
Megaconial type congenital muscular dystrophy 115 7 0 2 6 0 3 11
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 364 15 0 8 0 0 3 11
Mitochondrial DNA depletion syndrome 2 118 1 7 0 1 0 3 11
Mucopolysaccharidosis, MPS-II 201 22 0 9 0 0 3 11
Multiple endocrine neoplasia, type 4 345 13 0 5 4 0 2 11
Myofibrillar myopathy, ZASP-related 344 4 0 4 6 0 1 11
Neural tube defect 192 26 0 8 2 1 0 11
Neurodevelopmental abnormality 95 18 0 2 6 0 3 11
Neuronal ceroid lipofuscinosis 7 236 16 2 4 3 0 4 11
Neuronal ceroid lipofuscinosis 8 57 2 2 5 1 0 5 11
Phosphoglycerate dehydrogenase deficiency 81 22 0 3 9 0 0 11
Pigmentary pallidal degeneration 109 7 0 6 3 0 2 11
Primary erythromelalgia 190 1 4 0 3 0 4 11
Primary pulmonary hypertension 1 609 40 0 6 5 0 2 11
Pustular psoriasis, generalized 89 3 0 3 4 0 6 11
Spondylocostal dysostosis 2, autosomal recessive 83 6 4 3 4 0 0 11
TP63-Related Spectrum Disorders 116 19 0 8 4 0 1 11
Thanatophoric dysplasia type 1 4 0 11 0 0 0 1 11
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 1 23 0 1 9 0 1 11
Vitamin B12-responsive methylmalonic acidemia type cblA 202 23 0 6 5 0 0 11
Xeroderma pigmentosum, group G 104 11 0 3 6 0 2 11
ALG8-CDG 51 4 0 3 7 0 1 10
Autosomal recessive limb-girdle muscular dystrophy type 2E 101 17 0 9 1 0 0 10
Beta-plus-thalassemia 14 20 0 3 0 6 1 10
Brody myopathy 230 25 0 3 6 0 1 10
Brown-Vialetto-Van Laere syndrome 1 156 7 0 2 0 0 9 10
CC2D2A-Related Disorders 17 11 0 1 9 0 0 10
COG1 congenital disorder of glycosylation 86 6 0 3 7 0 0 10
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 215 28 2 3 3 0 4 10
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 21 0 0 3 7 0 0 10
Colorectal cancer, susceptibility to 7 5 1 0 4 3 3 10
Deoxygalactonojirimycin response 36 0 0 0 0 10 0 10
Dilated cardiomyopathy 1J 217 5 0 4 6 0 0 10
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 29 3 0 6 4 0 0 10
Endplate acetylcholinesterase deficiency 168 19 0 4 4 0 2 10
Epilepsy, childhood absence 2 61 6 0 5 5 0 0 10
Epilepsy, progressive myoclonic 3 182 9 0 1 5 1 4 10
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 4 27 0 3 4 2 3 10
Glycogen storage disease IIIa 8 1 4 7 0 0 0 10
Glycogen storage disease IXc 61 5 0 2 7 0 1 10
Hepatic veno-occlusive disease-immunodeficiency syndrome 139 22 2 5 4 0 0 10
Hereditary acrodermatitis enteropathica 116 11 0 4 6 0 0 10
Hereditary diffuse leukoencephalopathy with spheroids 167 10 5 6 0 0 0 10
Hyperekplexia 3 53 5 9 1 0 0 0 10
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 45 3 0 4 6 0 0 10
Hypochondroplasia 19 0 10 1 0 0 1 10
Hypohidrotic X-linked ectodermal dysplasia 147 14 0 6 3 0 2 10
Imerslund-Gräsbeck syndrome 332 10 0 2 2 0 6 10
Juvenile myoclonic epilepsy; Typical absence seizures 170 8 0 1 7 2 1 10
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 133 14 0 8 2 0 0 10
Mental retardation, autosomal dominant 5 386 20 0 4 3 0 4 10
Metaphyseal chondrodysplasia, McKusick type 177 12 1 8 0 0 1 10
Multiple gastrointestinal atresias 281 4 0 1 4 0 5 10
Neuronal Ceroid-Lipofuscinosis, Recessive 127 6 0 4 6 0 0 10
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 49 22 0 6 4 0 0 10
Osteogenesis imperfecta 360 4 0 7 3 0 0 10
Parkinson disease 6, autosomal recessive early-onset 106 15 0 3 7 0 0 10
Peroxisome biogenesis disorder 13A 34 10 0 3 7 0 0 10
Peroxisome biogenesis disorder, complementation group K 55 10 0 3 7 0 0 10
Plasma factor XI deficiency 18 13 0 4 6 0 0 10
Pseudo-Hurler polydystrophy 141 0 7 0 1 0 2 10
Rett syndrome, congenital variant 171 23 0 4 4 0 2 10
Stüve-Wiedemann syndrome 240 13 0 5 6 0 0 10
Succinyl-CoA acetoacetate transferase deficiency 79 3 0 7 3 0 0 10
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 180 15 0 1 8 0 1 10
Tibial muscular dystrophy 1849 7 0 3 7 0 0 10
Type IV short rib polydactyly syndrome 0 1 0 9 0 0 1 10
Vitelliform macular dystrophy type 2 121 1 0 7 0 0 3 10
3 beta-Hydroxysteroid dehydrogenase deficiency 42 2 0 0 9 0 0 9
Achondrogenesis, type IA 197 34 0 3 5 0 1 9
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 86 11 0 5 3 0 1 9
Acyl-CoA dehydrogenase family, member 9, deficiency of 95 8 0 3 5 0 2 9
Aicardi Goutieres syndrome 4 104 14 0 2 3 0 4 9
Alport syndrome, autosomal recessive 327 22 0 8 0 0 1 9
Alzheimer disease, type 4 74 8 2 4 2 0 1 9
Amyloidogenic transthyretin amyloidosis 128 31 0 5 3 0 2 9
Autosomal recessive congenital ichthyosis 2 184 12 0 3 0 0 6 9
Breast and colorectal cancer, susceptibility to 1 2 0 3 0 3 6 9
Catecholaminergic polymorphic ventricular tachycardia type 1 367 4 4 4 2 0 0 9
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 220 15 0 5 1 0 3 9
Cerebral cavernous malformation 185 10 0 7 1 0 1 9
Chitotriosidase deficiency 82 5 0 2 6 2 0 9
Congenital defect of folate absorption 136 2 9 0 0 0 0 9
Congenital disorder of glycosylation type 1N 130 6 0 2 7 0 0 9
D-2-hydroxyglutaric aciduria 1 130 16 0 4 5 0 1 9
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 6 0 9 0 0 0 0 9
Deficiency of butyrylcholine esterase 95 4 0 3 1 1 5 9
Deficiency of hydroxymethylglutaryl-CoA lyase 100 19 0 2 4 0 3 9
Diastrophic dysplasia 192 1 7 2 0 0 0 9
Familial hypertrophic cardiomyopathy 10 136 15 0 7 1 0 2 9
GRACILE syndrome 59 8 1 2 2 0 4 9
Gamma-aminobutyric acid transaminase deficiency 248 17 0 2 6 0 1 9
Geleophysic dysplasia 1 127 6 5 0 4 0 0 9
Glycogen storage disease 0, muscle 191 16 0 4 5 0 0 9
Growth hormone deficiency 32 3 0 4 5 0 0 9
Hemochromatosis type 1 52 13 0 2 6 0 2 9
Hereditary Paraganglioma-Pheochromocytoma Syndromes 811 12 3 4 2 0 0 9
Hereditary hemochromatosis 139 13 0 2 6 0 2 9
Hermansky-Pudlak syndrome 1 129 4 8 1 1 0 0 9
Hermansky-Pudlak syndrome 4 112 1 8 1 0 0 0 9
Hermansky-Pudlak syndrome 5 111 2 5 0 0 0 4 9
Histiocytosis-lymphadenopathy plus syndrome 148 22 0 5 4 0 0 9
Hyperinsulinism, Dominant/Recessive 3 8 0 6 3 1 0 9
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 80 2 8 0 0 0 1 9
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 56 3 0 7 1 0 1 9
Intellectual disability 2099 11 0 4 2 0 4 9
Koolen-de Vries syndrome 336 6 5 1 2 0 2 9
Kostmann syndrome 77 10 0 3 6 0 0 9
Long QT syndrome 2 199 9 0 4 4 1 2 9
Malignant hyperthermia susceptibility 82 1 0 4 2 4 0 9
Maturity-onset diabetes of the young, type 2 205 9 1 3 3 0 2 9
Meckel syndrome type 1 90 9 2 5 4 0 0 9
Meckel syndrome, type 3 91 1 0 7 0 0 2 9
Mental retardation, autosomal dominant 6 77 14 0 6 0 0 3 9
Mowat-Wilson syndrome 397 15 0 4 5 0 0 9
Mucopolysaccharidosis type 7 98 9 0 5 2 1 1 9
Multiple endocrine neoplasia, type 2 1120 31 0 4 0 0 5 9
Myopathy, myofibrillar, 9, with early respiratory failure 1865 1 0 0 7 0 2 9
Neuronal ceroid lipofuscinosis 10 70 4 0 6 2 0 1 9
Nonsyndromic Hearing Loss, Mixed 32 13 0 3 6 0 0 9
Ornithine carbamoyltransferase deficiency 153 22 0 5 3 0 2 9
Peroxisome biogenesis disorder 12A 103 2 0 2 7 0 0 9
Pituitary hormone deficiency, combined 2 60 11 0 4 4 0 1 9
Pontocerebellar hypoplasia type 6 70 9 0 4 3 0 2 9
Primary autosomal recessive microcephaly 1 140 23 3 2 3 0 1 9
Rare genetic intellectual disability 38 10 0 6 2 0 1 9
Retinitis Pigmentosa, Dominant 95 56 0 6 3 0 0 9
Retinitis pigmentosa 12; Leber congenital amaurosis 8 260 18 0 7 1 0 2 9
Retinitis pigmentosa 4 82 11 0 9 0 0 0 9
Rhizomelic chondrodysplasia punctata type 1 91 9 5 6 0 0 1 9
Spinocerebellar ataxia type 28 58 0 9 1 0 0 0 9
Thiamine-responsive megaloblastic anemia 30 1 0 3 6 0 0 9
Transient Neonatal Diabetes, Dominant/Recessive 13 2 0 9 0 0 0 9
Usher syndrome type 1F 402 10 1 6 1 0 1 9
Vici syndrome 422 19 0 4 4 0 1 9
Abnormality of the eye 16 2 0 4 0 1 5 8
Acute intermittent porphyria 90 4 0 3 2 0 3 8
Aicardi Goutieres syndrome 5 156 17 0 2 2 0 4 8
Aicardi-Goutieres syndrome 6 12 0 0 8 0 0 0 8
Alzheimer disease, type 3 153 2 7 1 0 0 1 8
Arginase deficiency 103 12 0 3 2 0 3 8
Breast-ovarian cancer, familial 3 54 5 0 2 3 2 1 8
Brown-Vialetto-Van Laere syndrome 2 170 10 0 3 0 0 6 8
Char syndrome 20 2 7 0 1 0 0 8
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 64 12 0 5 2 0 1 8
Cholesterol monooxygenase (side-chain cleaving) deficiency 80 10 0 2 5 0 1 8
Common Variable Immune Deficiency, Dominant 11 4 0 4 2 0 3 8
Common variable immunodeficiency 2 114 10 0 5 1 1 3 8
Common variable immunodeficiency 8, with autoimmunity 586 20 0 2 4 0 2 8
Congenital heart disease 23 0 0 0 0 0 8 8
Cystinosis 45 24 0 4 4 0 0 8
Deafness, autosomal dominant 3a 90 8 0 5 0 0 3 8
Deafness, autosomal recessive 57 12 0 0 6 0 0 2 8
Death in infancy 0 0 0 1 0 0 8 8
Deficiency of hyaluronoglucosaminidase 57 9 0 2 5 0 1 8
Deficiency of isobutyryl-CoA dehydrogenase 87 11 0 3 1 0 5 8
Deficiency of malonyl-CoA decarboxylase 129 11 0 3 4 0 1 8
Dyschromatosis universalis hereditaria 1 1 0 0 6 0 0 2 8
Dyskeratosis congenita, X-linked 31 15 8 0 0 0 1 8
Dyskeratosis congenita, autosomal dominant 1 229 0 4 0 0 0 4 8
EAST syndrome 167 14 0 2 5 0 1 8
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 560 12 0 1 4 0 3 8
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 579 0 0 0 6 0 2 8
Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 104 20 0 2 3 0 3 8
Factor VII Marburg I Variant Thrombophilia 94 1 0 7 1 1 0 8
Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; Fanconi anemia, complementation group S 11 24 1 1 2 0 4 8