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
735767 62817 1683 23487 18768 693 5061 44689
Total conditions with conflicts: 4150
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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 246335 27024 258 10064 10742 343 1649 21339
not specified 58602 23911 183 12611 8667 269 686 20411
Cardiovascular phenotype 2985 2973 0 1581 1006 7 134 2445
Hereditary cancer-predisposing syndrome 51103 14442 0 872 1141 1 137 2123
History of neurodevelopmental disorder 1969 1132 0 1067 540 0 20 1470
Familial hypercholesterolemia 1 1394 554 0 665 263 0 368 1062
Breast-ovarian cancer, familial 2 3275 2312 0 307 419 0 60 638
Familial hypercholesterolemia 2278 195 0 320 218 0 217 597
Seizures 593 421 0 380 191 4 23 524
Breast-ovarian cancer, familial 1 5634 2097 0 203 298 0 81 469
Collagen VI-related myopathy 271 111 0 209 198 1 3 356
Ataxia-telangiectasia syndrome 5069 404 0 194 96 0 14 281
Hereditary breast and ovarian cancer syndrome 8990 939 0 181 86 0 11 271
RYR1-Related Disorders 880 338 0 109 108 25 39 251
Cardiomyopathy 9070 493 1 123 105 0 14 243
Spastic paraplegia 1214 235 0 134 98 1 12 218
Charcot-Marie-Tooth disease, type 2 1219 396 2 107 99 2 36 217
Familial cancer of breast 5262 529 4 124 79 0 19 212
Familial thoracic aortic aneurysm and aortic dissection 4110 277 0 96 100 0 9 195
Cystic fibrosis 1102 478 1 130 27 0 57 191
Colorectal cancer, susceptibility to, 12 2451 628 0 94 98 2 4 184
Phenylketonuria 361 121 14 126 9 0 41 181
Autosomal recessive polycystic kidney disease 879 99 0 85 81 0 29 178
Nemaline myopathy 2 1987 204 1 67 98 0 13 178
Glycogen storage disease, type II 662 127 5 109 37 3 24 168
Breast and/or ovarian cancer 74 183 15 95 96 2 16 167
Fanconi anemia, complementation group A 614 185 2 93 45 0 32 162
Limb-Girdle Muscular Dystrophy, Recessive 238 153 0 64 83 0 5 144
Cohen syndrome 1068 104 22 65 58 0 13 142
Laminin alpha 2-related dystrophy 561 154 0 69 85 0 7 142
Neurofibromatosis, type 1 4271 226 0 62 40 0 45 141
Fanconi anemia 3057 176 2 75 48 0 25 140
Wilson disease 498 94 3 79 43 0 25 137
Dilated Cardiomyopathy, Dominant 283 93 0 58 81 1 4 134
Lynch syndrome 2366 264 40 68 17 0 13 134
Primary ciliary dyskinesia 4487 91 0 51 81 0 2 134
Colorectal cancer 10 1241 401 0 73 63 3 0 127
Hypertrophic cardiomyopathy 3371 230 0 74 13 0 38 123
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 841 125 0 61 55 0 1 116
Non-ketotic hyperglycinemia 578 58 19 62 34 0 18 115
Very long chain acyl-CoA dehydrogenase deficiency 454 90 5 64 28 0 32 115
Ehlers-Danlos syndrome, type 7A 134 53 0 75 41 0 0 114
Brugada syndrome 1689 131 0 46 55 0 15 111
Familial adenomatous polyposis 1 3807 303 2 42 70 1 2 108
See cases 24309 385 15 14 47 0 42 108
Congenital muscular dystrophy due to partial LAMA2 deficiency 90 74 0 35 71 0 5 107
Rare genetic deafness 430 190 0 73 0 1 30 100
Retinitis Pigmentosa, Recessive 235 124 4 54 54 2 7 100
Hereditary diffuse gastric cancer 1221 200 0 60 42 0 3 96
Marfan syndrome 1378 79 1 61 22 0 15 96
Spastic paraplegia 11, autosomal recessive 773 38 40 23 35 0 5 95
ABCA4-Related Disorders 57 64 4 37 48 4 20 94
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 270 35 2 51 8 0 40 94
Brugada syndrome 1 125 74 0 42 47 0 12 93
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 1844 169 0 52 38 0 8 92
Qualitative or quantitative defects of dysferlin 687 42 0 12 78 0 0 90
Retinitis pigmentosa 4776 70 4 34 7 0 49 90
Biotinidase deficiency 215 28 5 43 3 0 53 89
Niemann-Pick disease type C1 351 54 7 55 22 0 10 86
Propionic acidemia 338 33 12 34 33 0 9 83
Limb-girdle muscular dystrophy, type 2A 378 60 4 55 19 0 10 82
WFS1-Related Spectrum Disorders 93 42 1 46 37 0 4 81
CFTR-related disorders 68 38 0 26 44 7 29 79
Rasopathy 953 161 6 45 20 0 9 79
Aortic aneurysm, familial thoracic 4 490 65 0 32 47 0 0 75
Retinal dystrophy 2884 71 0 48 1 0 26 73
Bloom syndrome 1052 105 0 42 32 0 2 70
Smith-Lemli-Opitz syndrome 192 28 12 39 18 0 12 70
Maple syrup urine disease 560 40 3 38 18 0 13 69
Parkinson disease 8, autosomal dominant 243 8 25 15 42 1 4 68
APC-Associated Polyposis Disorders 83 45 8 34 38 0 0 66
Progressive sclerosing poliodystrophy 559 92 0 26 17 0 23 66
Charcot-Marie-Tooth disease 3087 44 0 4 13 0 51 65
Cone-Rod Dystrophy, Recessive 30 60 4 44 30 2 7 65
Glycogen storage disease type III 623 42 9 40 19 0 4 65
Ehlers-Danlos syndrome, type 4 781 63 0 46 15 0 4 63
Cholestanol storage disease 148 6 32 25 12 0 9 60
MYH-associated polyposis 735 120 2 34 20 0 10 59
Tuberous sclerosis 1 1287 165 0 32 30 0 1 59
FLNB-Related Spectrum Disorders 156 44 0 30 29 0 0 58
Medium-chain acyl-coenzyme A dehydrogenase deficiency 206 32 0 38 8 0 16 58
Metachromatic leukodystrophy 323 17 10 38 6 1 10 58
POLG-Related Spectrum Disorders 46 28 0 18 38 0 6 58
Renal carnitine transport defect 303 62 0 36 18 0 10 58
Aortic aneurysm, familial thoracic 7 465 53 0 18 37 0 3 57
Stargardt Disease, Recessive 3 49 4 41 27 2 6 57
Classic homocystinuria 270 33 0 37 12 0 8 55
Familial Mediterranean fever 257 103 0 15 29 0 25 55
Primary hyperoxaluria, type I 215 20 0 35 21 0 2 55
Congenital disorder of glycosylation, type Ia 180 17 10 33 7 0 9 54
Deficiency of alpha-mannosidase 234 30 5 16 22 0 15 54
Arrhythmogenic right ventricular cardiomyopathy, type 9 417 50 0 28 28 0 1 52
Charcot-Marie-Tooth disease, type I 368 57 0 23 21 0 11 52
Glutaric aciduria, type 1 202 19 0 30 8 0 15 52
Long QT syndrome 3479 59 0 21 20 2 12 52
Galactosylceramide beta-galactosidase deficiency 298 33 0 28 14 3 8 50
Tay-Sachs disease 194 37 0 32 10 0 9 50
Finnish congenital nephrotic syndrome 171 14 23 24 3 0 6 49
Peutz-Jeghers syndrome 825 91 0 25 30 0 2 49
Dilated cardiomyopathy 1DD 452 31 0 16 35 0 0 48
Microcephaly, normal intelligence and immunodeficiency 1112 112 0 27 23 0 1 48
Werner syndrome 1142 46 4 14 31 0 1 48
Chédiak-Higashi syndrome 527 70 4 12 34 0 2 47
Citrullinemia type I 213 27 0 29 15 0 8 47
Kabuki syndrome 1 335 32 0 30 15 0 4 47
Spherocytosis 141 14 0 11 36 0 0 47
Gastrointestinal stromal tumor 2003 48 0 14 28 0 4 46
Peroxisome biogenesis disorder 1A (Zellweger) 315 27 0 24 21 0 2 46
Deafness, autosomal recessive 1A 139 32 12 28 7 0 7 45
Gorlin syndrome 1709 70 0 24 20 0 4 45
Hereditary cutaneous melanoma 527 126 3 22 21 0 4 44
Nonsyndromic Hearing Loss, Recessive 123 38 0 19 25 0 0 44
CDH23-Related Disorders 34 22 0 1 42 0 0 43
Familial hypertrophic cardiomyopathy 4 170 54 0 30 8 0 7 43
Li-Fraumeni syndrome 991 44 0 10 25 0 9 43
Lynch syndrome I 462 59 0 21 28 0 1 43
Elliptocytosis 0 113 0 37 6 0 0 42
Hyperkalemic Periodic Paralysis Type 1 495 61 0 22 19 0 1 42
Primary autosomal recessive microcephaly 5 370 45 21 8 12 0 3 42
Stickler Syndrome, Dominant 40 34 0 27 16 0 0 42
Congenital contractural arachnodactyly 640 95 0 27 13 0 1 41
Tuberous sclerosis 2 3335 75 0 22 14 0 6 41
Type II Collagenopathies 48 34 0 27 18 0 0 41
Familial hypertrophic cardiomyopathy 1 359 34 0 22 8 0 11 40
GLUT1 deficiency syndrome 1, autosomal recessive 119 44 0 22 24 0 2 40
Hereditary hemorrhagic telangiectasia type 1 234 33 0 25 14 0 2 40
Familial hypercholesterolemia 3 153 22 0 21 17 3 1 39
Jeune thoracic dystrophy 453 11 0 13 18 0 8 39
Retinoblastoma 829 35 0 21 17 0 2 39
beta Thalassemia 220 68 2 33 5 0 2 39
Bare lymphocyte syndrome 2 557 45 0 10 26 0 2 38
Glycogen storage disease, type V 222 24 0 15 21 0 3 38
Kabuki syndrome 251 22 0 21 16 0 3 38
Spherocytosis, Dominant 12 99 0 34 5 0 0 38
ANO5-Related Muscle Diseases 32 66 0 14 25 0 0 37
Arrhythmogenic right ventricular cardiomyopathy, type 10 345 27 0 20 15 0 4 37
Brain small vessel disease 1 with or without ocular anomalies 110 35 7 23 7 0 0 37
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 225 48 0 23 13 0 4 37
Mucopolysaccharidosis, MPS-III-A 207 19 0 20 14 0 4 37
Stargardt disease 1 320 26 0 32 1 1 6 37
Charcot-Marie-Tooth disease, axonal, type 2O 630 55 0 17 19 0 0 36
Ehlers-Danlos syndrome, classic type 1024 83 1 15 15 0 5 36
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 317 16 0 6 29 0 1 36
Neuroblastoma 3 1271 88 4 12 18 4 2 36
PTEN hamartoma tumor syndrome 808 62 0 19 7 0 15 36
Pendred syndrome 303 22 3 20 9 0 5 36
Hereditary hemorrhagic telangiectasia 229 29 0 20 14 0 2 35
Membranoproliferative glomerulonephritis with complement factor h deficiency 52 67 0 13 22 1 0 35
Tyrosinemia type I 124 21 6 15 12 1 6 35
Alstrom syndrome 1263 105 0 20 14 0 1 34
Cutaneous malignant melanoma 5 197 17 0 19 15 1 0 34
Hereditary nonpolyposis colorectal cancer type 7 375 17 0 21 13 0 2 34
Juvenile polyposis syndrome 1247 76 3 9 22 0 2 34
Myofibrillar Myopathy, Dominant 37 43 0 20 14 0 0 34
Neuroblastoma 212 53 0 16 16 2 4 34
Oligodontia-colorectal cancer syndrome 1173 52 0 23 11 0 0 34
Spastic paraplegia 48, autosomal recessive 356 25 0 12 21 0 1 34
Charcot-Marie-Tooth Neuropathy X 138 41 0 20 2 0 13 33
Congenital hyperammonemia, type I 275 37 0 11 16 0 7 33
Fabry disease 279 59 0 17 9 1 12 33
Hereditary pancreatitis 258 23 0 11 9 3 14 33
Lynch syndrome II 247 25 0 12 25 0 3 33
Pontoneocerebellar hypoplasia 160 40 0 16 17 0 1 33
Progressive familial heart block type IB 230 16 0 14 20 0 3 33
Severe combined immunodeficiency due to ADA deficiency 135 16 0 21 6 0 9 33
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 228 33 10 10 7 0 6 32
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 27 14 0 23 9 0 0 32
Familial hemophagocytic lymphohistiocytosis 3 263 36 0 6 27 0 0 32
Hereditary insensitivity to pain with anhidrosis 297 26 2 8 22 0 1 32
Intellectual Disability, Recessive 54 9 0 13 19 0 0 32
Myotonia congenita 50 29 10 10 7 0 6 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
Argininosuccinate lyase deficiency 150 18 2 16 7 0 8 31
Aspartylglucosaminuria 101 7 7 15 10 0 3 31
Brain small vessel disease with hemorrhage 18 36 1 23 7 0 0 31
Isolated Nonsyndromic Congenital Heart Disease 91 22 0 21 13 0 1 31
Primary familial hypertrophic cardiomyopathy 578 44 0 16 7 0 9 31
Renal cell carcinoma, papillary, 1 981 89 0 13 21 0 0 31
CHARGE association 738 44 0 23 7 0 0 30
Deafness, autosomal recessive 9 272 13 9 11 5 2 5 30
Ehlers-Danlos syndrome dermatosparaxis type 339 48 0 8 22 0 0 30
Enlarged vestibular aqueduct 313 7 2 8 0 26 2 30
Hereditary nonpolyposis colorectal cancer type 4 178 37 0 18 12 0 3 30
Congenital Muscular Dystrophy, alpha-dystroglycan related 211 19 0 14 14 0 2 29
Dilated cardiomyopathy 1W 283 20 0 7 21 0 1 29
Hereditary sensory neuropathy type IE 291 22 0 17 12 0 0 29
Malignant hyperthermia, susceptibility to, 1 475 19 0 15 12 5 1 29
Mucopolysaccharidosis type 1 187 29 0 8 18 3 1 29
Pyruvate carboxylase deficiency 182 14 5 10 13 0 2 29
Usher syndrome, type 2A; Retinitis pigmentosa 39 411 30 0 9 0 0 20 29
Alpha-1-antitrypsin deficiency 166 16 0 15 12 0 6 28
Alport syndrome 1, X-linked recessive 854 52 18 8 2 0 3 28
Ataxia-telangiectasia-like disorder 1 167 38 0 14 14 0 4 28
Atypical hemolytic-uremic syndrome 1 28 56 0 7 20 3 0 28
Deficiency of ferroxidase 153 16 9 13 5 0 4 28
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 729 90 0 13 14 1 0 28
Rett syndrome 494 49 0 16 2 0 11 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
Breast-ovarian cancer, familial 4 508 43 0 12 10 3 3 27
Glanzmann thrombasthenia 281 16 0 19 2 0 6 27
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 161 12 0 19 7 0 2 27
Holocarboxylase synthetase deficiency 210 16 0 11 14 0 4 27
Macular dystrophy 28 13 0 19 1 1 10 27
ivacaftor response - Efficacy 6 0 0 0 0 27 0 27
Atypical Gaucher Disease 12 3 0 13 14 0 0 26
Central core myopathy 197 300 5 14 5 0 4 26
Cutaneous melanoma 126 18 0 26 0 0 0 26
Epilepsy, focal, with speech disorder and with or without mental retardation 564 30 0 19 4 0 3 26
Isovaleryl-CoA dehydrogenase deficiency 166 16 0 18 3 0 5 26
Lissencephaly, Recessive 67 12 0 7 19 0 0 26
Malignant melanoma of skin 237 17 0 26 0 0 0 26
Osteogenesis Imperfecta, Recessive 60 10 0 9 17 0 0 26
Arrhythmogenic right ventricular cardiomyopathy, type 11 300 23 0 9 18 0 0 25
Ataxia-telangiectasia-like disorder 218 34 0 14 12 0 3 25
Familial cold autoinflammatory syndrome 2 275 26 0 10 13 0 3 25
Hereditary spastic paraplegia 39 233 14 0 9 15 0 2 25
Leukocyte adhesion deficiency 1 229 40 0 10 15 0 1 25
Lysosomal acid lipase deficiency 108 29 0 11 11 0 4 25
Neuronal ceroid lipofuscinosis 1 205 16 13 12 2 0 4 25
Pitt-Hopkins-like syndrome 1 537 47 0 7 19 0 0 25
Primary Microcephaly, Recessive 30 17 0 12 13 0 0 25
Uterine cervical neoplasms 101 6 2 20 0 1 2 25
Cystic fibrosis; CFTR-related disorders 14 35 0 16 0 0 11 24
Hereditary nonpolyposis colorectal cancer type 5 358 60 0 8 18 0 0 24
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 478 62 0 8 16 0 1 24
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 6 23 0 13 12 0 3 24
Long QT syndrome 1 195 44 0 16 6 0 3 24
Lysinuric protein intolerance 153 14 3 10 10 0 2 24
Mucolipidosis type IV 151 11 0 11 13 0 0 24
Perlman syndrome 737 38 0 3 20 0 1 24
Pierson syndrome 78 31 0 7 17 0 0 24
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 152 32 0 7 17 0 0 24
Pitt-Hopkins-like syndrome 2 463 23 0 8 15 0 1 24
Deficiency of pyrroline-5-carboxylate reductase 100 4 0 9 13 0 2 23
Dyskeratosis congenita 603 30 0 9 14 0 0 23
Hermansky-Pudlak syndrome 2 155 15 5 6 13 0 0 23
Lethal multiple pterygium syndrome 327 21 0 4 18 0 1 23
Majeed syndrome 263 22 2 10 17 0 0 23
Nephronophthisis 8 85 17 0 11 13 1 0 23
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 205 17 0 7 16 0 0 23
Arrhythmogenic right ventricular cardiomyopathy 434 22 0 9 12 0 2 22
Familial platelet disorder with associated myeloid malignancy 451 46 0 13 7 0 2 22
Focal segmental glomerulosclerosis 5 82 39 0 7 16 0 0 22
Hereditary fructosuria 103 11 0 10 9 0 3 22
Hyperekplexia 1 122 18 12 6 4 0 2 22
Multiple endocrine neoplasia, type 2a 186 23 0 13 7 0 3 22
Niemann-Pick disease, type A 172 15 0 12 2 0 8 22
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 317 58 0 7 13 0 2 22
Stargardt disease 115 17 0 20 0 1 3 22
Adrenoleukodystrophy 326 36 0 13 5 0 5 21
Arterial tortuosity syndrome 184 24 0 9 12 0 4 21
CHEK2-Related Cancer Susceptibility 9 12 0 5 13 2 3 21
Carnitine palmitoyltransferase II deficiency 195 26 0 10 8 0 3 21
Deficiency of acetyl-CoA acetyltransferase 162 23 0 15 2 0 4 21
Dilated cardiomyopathy 1O 267 6 0 6 15 0 0 21
Duchenne muscular dystrophy 2036 66 0 16 2 0 4 21
Familial hemophagocytic lymphohistiocytosis 2 164 21 0 7 13 0 1 21
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 269 34 0 7 15 0 0 21
Gaucher disease 37 12 15 6 0 0 2 21
Hereditary factor XI deficiency disease 181 8 0 13 1 0 8 21
Hypoplasia of the iris 0 40 0 9 11 0 1 21
Methylmalonic acidemia with homocystinuria 105 32 0 14 1 0 7 21
Multiple endocrine neoplasia, type 1 758 58 0 13 9 0 0 21
Multiple fibrofolliculomas 648 47 2 12 6 0 2 21
Neuronal ceroid lipofuscinosis 1059 23 0 8 11 0 2 21
PITX2-Related Eye Abnormalities 2 40 0 9 11 0 1 21
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 252 15 0 8 13 0 0 21
Spongy degeneration of central nervous system 68 7 0 12 2 0 8 21
Tramadol response 1588 1 0 0 0 21 0 21
Atrial fibrillation, familial, 7 126 5 0 8 11 0 1 20
Autosomal recessive centronuclear myopathy 172 7 0 7 13 0 1 20
Autosomal recessive congenital ichthyosis 1 164 7 0 13 2 0 6 20
Dilated Cardiomyopathy, Recessive 166 8 0 18 2 0 0 20
Early infantile epileptic encephalopathy 12 513 19 0 5 15 0 0 20
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 62 8 0 15 2 0 3 20
Glycogen storage disease, type IV 58 14 6 8 7 0 2 20
Holoprosencephaly 3 39 0 19 2 0 0 2 20
Hyperinsulinemic hypoglycemia, familial, 1 277 23 0 15 2 0 4 20
Leber's optic atrophy 33 0 16 2 0 0 3 20
Leigh syndrome 2693 26 0 12 3 0 5 20
Mental retardation, CASK-related, X-linked 47 11 0 10 14 0 0 20
Mitochondrial trifunctional protein deficiency 119 27 0 6 13 0 1 20
Mucopolysaccharidosis type 6 343 27 0 11 5 0 4 20
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 74 9 0 15 2 0 3 20
Multiple acyl-CoA dehydrogenase deficiency 222 12 0 7 10 0 3 20
Neuromuscular disease, congenital, with uniform type 1 fiber 2 298 1 12 5 0 2 20
Neutral lipid storage myopathy 168 21 0 4 16 0 0 20
Alkaptonuria 107 9 10 7 2 0 1 19
Bardet-Biedl syndrome 1 134 41 0 16 1 0 2 19
Breast cancer, susceptibility to 17 5 0 4 1 15 0 19
Combined oxidative phosphorylation deficiency 14 129 10 0 12 3 0 5 19
Cornelia de Lange syndrome 1 437 33 0 7 8 0 5 19
Deficiency of butyryl-CoA dehydrogenase 145 14 0 9 2 0 12 19
Dilated cardiomyopathy 1KK 352 23 0 15 6 0 4 19
Ehlers-Danlos syndrome, hydroxylysine-deficient 236 33 0 4 14 0 1 19
Fanconi anemia, complementation group C 204 18 0 18 1 0 1 19
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 14 4 0 8 11 0 0 19
Hereditary spastic paraplegia 7 175 23 0 7 9 0 3 19
Leber congenital amaurosis 4 131 5 4 4 11 0 2 19
Multiple exostoses type 2 175 13 0 9 7 0 3 19
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 33 9 0 9 10 0 0 19
Sphingomyelin/cholesterol lipidosis 19 26 0 13 5 0 1 19
Tumor susceptibility linked to germline BAP1 mutations 628 38 0 10 8 0 2 19
Achromatopsia 3 204 6 2 13 1 0 2 18
Charlevoix-Saguenay spastic ataxia 556 13 3 10 4 0 2 18
Congenital disorder of glycosylation type 2i 134 4 0 5 13 0 0 18
Epileptic encephalopathy 1602 36 0 13 3 1 4 18
Fibrous dysplasia of jaw 256 13 0 6 13 0 0 18
Fumarase deficiency 561 17 2 7 10 0 4 18
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 62 11 4 8 7 0 1 18
Isolated coronal synostosis 72 9 0 12 6 0 0 18
Juvenile neuronal ceroid lipofuscinosis 133 3 12 5 1 0 1 18
Mucopolysaccharidosis, MPS-III-B 130 9 0 11 2 0 6 18
Neurofibromatosis, type 2 570 19 0 7 10 0 1 18
Niemann-Pick disease, type B; Niemann-Pick disease, type A 95 26 0 13 5 0 0 18
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 123 31 0 10 9 0 0 18
Salla disease 109 8 4 12 4 0 1 18
Schimke immuno-osseous dysplasia 149 17 0 6 10 0 2 18
Vitamin B12-responsive methylmalonic acidemia type cblB 150 14 0 8 8 0 4 18
Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 31 6 0 9 8 0 0 17
Acrocallosal syndrome 152 24 0 7 10 0 1 17
Autoimmune lymphoproliferative syndrome 169 10 0 8 8 0 2 17
Carney complex, type 1 269 6 7 4 5 0 1 17
Carnitine palmitoyltransferase I deficiency 50 4 13 5 0 0 4 17
Charcot-Marie-Tooth disease axonal type 2C 246 50 0 11 5 0 1 17
Cystinuria 174 12 0 4 9 0 4 17
Deafness, autosomal recessive 77 234 13 0 5 13 0 0 17
Factor V deficiency 218 12 0 6 9 1 1 17
Inherited Erythromelalgia 41 28 0 12 6 0 0 17
Limb-Girdle Muscular Dystrophy, Dominant 32 24 0 11 6 0 0 17
Osteochondrodysplasia 151 6 0 9 8 0 0 17
Pancreatic cancer 1 83 10 0 5 12 1 0 17
Primary dilated cardiomyopathy 1154 33 0 9 4 0 4 17
Romano-Ward syndrome 581 33 0 11 5 0 1 17
SEPN1-Related Disorders 79 15 0 6 11 0 0 17
Sandhoff disease 128 15 0 11 4 0 2 17
Transcolabamin II deficiency 127 17 0 7 10 0 0 17
Abnormality of brain morphology 71 6 0 3 1 0 13 16
Bardet-Biedl syndrome 1230 36 2 9 2 0 3 16
Blau syndrome; Inflammatory bowel disease 1 208 17 0 5 7 4 0 16
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 3 20 0 2 3 10 3 16
Charcot-Marie-Tooth disease type 2P 244 30 0 5 9 0 2 16
Ciliary dyskinesia, primary, 3 424 27 2 7 3 0 5 16
Dilated cardiomyopathy 1JJ 254 29 0 14 1 0 1 16
Giant axonal neuropathy 1 284 18 0 5 5 0 7 16
Glycogen storage disease, type VI 84 13 6 4 2 0 5 16
Hereditary leiomyomatosis and renal cell cancer 71 29 0 10 6 0 0 16
Hyperphosphatasia with mental retardation syndrome 2 270 20 0 5 9 0 2 16
Mental retardation, autosomal recessive 15 102 21 0 5 10 0 1 16
Mitochondrial diseases 76 22 2 10 4 0 6 16
Mucopolysaccharidosis, MPS-IV-A 157 24 2 7 6 0 1 16
Neurodevelopmental disorder 121 15 0 12 2 1 5 16
Neuropathy, hereditary sensory and autonomic, type 1A 32 10 3 8 6 0 1 16
Ornithine aminotransferase deficiency 88 10 1 9 3 0 4 16
Peroxisome biogenesis disorder 6A 55 13 0 4 12 0 0 16
Peroxisome biogenesis disorder, complementation group 7 54 13 0 4 12 0 0 16
Von Hippel-Lindau syndrome 400 52 0 9 4 0 4 16
Arthrogryposis multiplex congenita 15 17 0 6 9 0 0 15
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 71 15 0 4 9 0 2 15
Congenital disorder of glycosylation type 1M 129 2 0 1 14 0 0 15
Deficiency of galactokinase 90 6 0 5 8 0 3 15
Dihydropyrimidine dehydrogenase deficiency 156 8 0 5 4 0 7 15
Dystonia 12 237 25 1 11 3 0 0 15
Early infantile epileptic encephalopathy 2 163 17 0 11 0 0 4 15
Ellis-van Creveld syndrome 552 10 0 7 4 0 4 15
Familial dysautonomia 259 24 0 8 7 0 0 15
Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease type 3C 9 8 11 4 0 0 1 15
Hereditary sensory and autonomic neuropathy type 1 78 10 2 7 6 0 1 15
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 121 6 2 4 9 0 0 15
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 116 20 0 4 9 0 2 15
Inflammatory bowel disease 28, autosomal recessive 116 21 0 9 7 0 0 15
Joubert syndrome 461 27 0 3 7 0 5 15
Joubert syndrome 17 230 12 5 5 3 0 3 15
MUTYH-associated polyposis 0 12 0 14 0 0 1 15
Mucolipidosis type II 203 0 13 1 0 0 1 15
Multiple Cutaneous and Uterine Leiomyomas 0 24 0 9 6 0 0 15
Niemann-Pick disease, type C 21 6 3 12 1 0 2 15
Pitt-Hopkins syndrome 323 15 0 12 2 0 1 15
Pseudoxanthoma elasticum 349 21 0 3 0 0 12 15
Sitosterolemia 31 12 0 10 5 0 0 15
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 91 8 0 10 3 0 2 15
Wolman disease 1 39 0 7 8 0 0 15
Zellweger syndrome 43 6 0 13 0 0 2 15
Biotin-responsive basal ganglia disease 195 18 0 7 8 0 0 14
Candidiasis, familial, 2 132 16 0 6 8 0 1 14
Charcot-Marie-Tooth disease, dominant intermediate B 289 23 0 8 6 0 0 14
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 15 17 0 7 7 0 1 14
Familial hypoplastic, glomerulocystic kidney 67 17 0 4 5 0 5 14
Fatal Infantile Cardioencephalomyopathy 8 3 0 8 7 0 0 14
Glucose-6-phosphate transport defect 454 17 0 11 2 0 1 14
Hypercholesterolaemia 13 10 0 3 6 0 5 14
Juvenile myoclonic epilepsy 170 7 0 4 9 0 1 14
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 62 25 0 13 0 0 1 14
Mitochondrial trifunctional protein deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 72 11 0 2 11 0 1 14
Netherton syndrome 212 34 0 6 8 0 1 14
Neuronal ceroid lipofuscinosis 5 114 4 7 5 2 0 2 14
Obesity 122 3 2 3 4 2 6 14
Paroxysmal nonkinesigenic dyskinesia 1 72 11 0 10 2 0 2 14
Pyridoxine-dependent epilepsy 298 17 0 3 9 0 2 14
Sitosterolemia 1 145 11 0 9 5 0 0 14
Supravalvar aortic stenosis 198 23 0 7 7 0 0 14
ANKRD1-related dilated cardiomyopathy 43 12 0 8 6 0 0 13
Alzheimer disease 103 8 4 5 3 0 1 13
Autosomal recessive limb-girdle muscular dystrophy type 2D 149 13 0 8 2 0 3 13
BH4-deficient hyperphenylalaninemia A 57 8 0 8 1 0 4 13
Cardiac arrhythmia, ankyrin B-related 231 17 0 6 4 0 4 13
Catecholaminergic polymorphic ventricular tachycardia 1610 10 0 8 3 0 2 13
Colorectal cancer, non-polyposis 4 7 4 1 12 0 1 13
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 182 13 0 6 7 0 0 13
Congenital muscular hypertrophy-cerebral syndrome 205 14 0 4 2 0 7 13
Cranioectodermal dysplasia 1 92 17 4 6 2 0 1 13
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 125 0 0 1 11 0 1 13
Episodic ataxia type 2; Familial hemiplegic migraine type 1 0 0 0 13 0 0 0 13
FGFR2 related craniosynostosis 41 17 0 11 3 0 0 13
Fanconi anemia, complementation group J 224 25 0 6 7 0 0 13
Fanconi anemia, complementation group O 636 30 0 5 7 0 2 13
Gyrate atrophy 36 9 1 6 3 0 3 13
Hemoglobin E 4 1 0 1 8 5 4 13
Hereditary Cancer Syndrome 15 25 0 0 11 0 2 13
Hereditary spastic paraplegia 3A 109 19 6 3 4 0 1 13
Immunodeficiency 30 140 22 0 2 11 0 0 13
Infantile neuroaxonal dystrophy 79 18 0 5 7 0 1 13
Muscle eye brain disease 87 3 10 2 0 0 1 13
Niemann-Pick disease, type C2 26 3 8 4 0 0 3 13
Nonsyndromic Hearing Loss, Dominant 48 39 0 6 5 0 2 13
Orthostatic hypotension 1 129 18 0 5 8 0 0 13
PLA2G6-associated neurodegeneration 52 14 0 4 8 0 1 13
Polyglandular autoimmune syndrome, type 1 256 18 1 8 2 0 2 13
Primary hyperoxaluria, type II 103 5 2 7 5 0 0 13
Renal cysts and diabetes syndrome 187 17 0 4 4 0 5 13
Somatotroph adenoma 88 0 2 5 4 0 4 13
Spastic Paraplegia, Recessive 18 5 0 6 7 0 1 13
Spastic paraplegia 4, autosomal dominant 326 24 0 9 1 0 5 13
Sphingolipid activator protein 1 deficiency 106 6 0 5 8 0 0 13
Surfactant metabolism dysfunction, pulmonary, 3 216 9 0 3 9 0 1 13
Tubulinopathies 70 28 0 12 0 0 2 13
Tyrosine kinase 2 deficiency 223 31 0 5 8 0 0 13
UDPglucose-4-epimerase deficiency 58 3 5 6 3 0 2 13
3-methylcrotonyl CoA carboxylase 2 deficiency 148 10 0 6 3 0 4 12
ALG12-congenital disorder of glycosylation 84 8 0 5 6 0 1 12
Abnormality of coagulation 15 5 0 5 2 0 5 12
Abnormality of the eye 27 14 0 7 0 1 6 12
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 52 5 0 2 1 0 9 12
Antithrombin III deficiency 101 8 0 9 3 0 4 12
Autosomal recessive cutis laxa type 1B 108 11 0 4 8 0 1 12
Bardet-Biedl syndrome 2 118 8 0 8 3 0 1 12
Bethlem myopathy 1 1771 18 0 2 2 0 8 12
Charcot-Marie-Tooth disease, type 4C 554 0 9 2 1 0 1 12
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 102 13 0 6 5 0 2 12
Ciliary dyskinesia, primary, 19 67 8 5 1 4 0 2 12
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 117 0 9 1 1 0 2 12
Congenital disorder of glycosylation type 1C 115 8 0 6 6 0 1 12
Donnai-Barrow syndrome 396 7 8 2 1 0 1 12
Epilepsy, familial focal, with variable foci 1 156 31 0 3 7 0 2 12
Familial focal epilepsy with variable foci 320 18 0 3 7 0 2 12
Familial hypercholesterolemia 4 124 9 0 3 11 0 2 12
Glycogen storage disease IXb 123 8 0 2 9 0 1 12
Hemophagocytic lymphohistiocytosis, familial, 5 153 18 0 5 7 0 0 12
Idiopathic basal ganglia calcification 1 95 0 2 10 0 0 0 12
Immunodeficiency 51 300 22 0 1 11 0 0 12
Kohlschutter's syndrome 171 9 0 6 6 0 1 12
Lethal Encephalopathy 11 4 0 6 6 0 0 12
Microphthalmia, isolated 2 95 1 0 1 10 0 1 12
Monogenic Non-Syndromic Obesity 114 3 0 6 6 0 0 12
Multiple sulfatase deficiency 128 5 0 7 5 0 1 12
Navajo neurohepatopathy 55 5 7 4 0 0 3 12
Nemaline myopathy 6 167 22 0 6 5 0 1 12
Nephrotic syndrome, idiopathic, steroid-resistant 90 15 0 6 0 0 6 12
Paroxysmal non-kinesigenic dyskinesia 87 9 0 9 1 0 2 12
Peters plus syndrome 101 4 2 3 7 0 0 12
Polycystic kidney disease, adult type 505 39 0 4 5 0 4 12
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 342 19 0 3 9 0 0 12
Short rib-polydactyly syndrome, Majewski type 148 11 0 5 7 0 0 12
Succinate-semialdehyde dehydrogenase deficiency 251 31 0 5 6 0 1 12
Transient Neonatal Diabetes, Recessive 42 7 0 6 6 0 0 12
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 3 22 0 4 7 0 1 12
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 69 7 0 5 4 0 4 12
Amyotrophic lateral sclerosis type 10 70 7 0 7 0 0 5 11
Angelman syndrome 257 22 0 2 8 0 1 11
Anophthalmia - microphthalmia 40 1 0 3 6 0 2 11
Arthrogryposis multiplex congenita distal 2 16 0 4 7 0 0 11
Bietti crystalline corneoretinal dystrophy 169 1 8 0 0 0 3 11
COG7 congenital disorder of glycosylation 65 3 0 3 7 0 1 11
Common variable immunodeficiency 4 36 1 0 4 8 0 1 11
Cornelia de Lange syndrome 3 90 6 0 2 9 0 0 11
Deafness, autosomal recessive 3 372 17 0 3 4 0 4 11
Disseminated atypical mycobacterial infection 113 14 0 7 3 0 1 11
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 183 11 0 8 0 0 3 11
Fanconi anemia, complementation group E 120 25 0 3 7 0 1 11
Global developmental delay 75 16 0 8 2 1 5 11
Intellectual disability, autosomal dominant 9 22 8 0 10 0 0 1 11
Long QT syndrome 2 151 44 0 5 4 1 2 11
MPI-CDG 99 8 0 5 6 0 0 11
Megaconial type congenital muscular dystrophy 93 6 0 2 6 0 3 11
Megalencephalic leukoencephalopathy with subcortical cysts 1 154 9 3 5 1 0 4 11
Microcephalic osteodysplastic primordial dwarfism type II 434 40 0 7 3 0 1 11
Mitochondrial DNA depletion syndrome 2 118 1 7 0 1 0 3 11
Myofibrillar myopathy, ZASP-related 288 4 0 4 6 0 1 11
Neural tube defect 192 26 0 8 2 1 0 11
Neuronal ceroid lipofuscinosis 8 39 1 2 5 0 0 5 11
Noonan syndrome 372 41 0 10 0 0 1 11
Osteogenesis imperfecta type 8 135 19 0 6 5 0 0 11
Peroxisomal acyl-CoA oxidase deficiency 205 7 0 2 9 0 0 11
Primary erythromelalgia 189 1 4 0 3 0 4 11
Primary hyperoxaluria, type III 111 7 0 3 2 0 7 11
Primary pulmonary hypertension 608 40 0 6 4 0 2 11
TNF receptor-associated periodic fever syndrome (TRAPS) 154 22 0 4 8 0 1 11
Telangiectasia, hereditary hemorrhagic, type 2 310 32 0 8 2 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
3 Methylcrotonyl-CoA carboxylase 1 deficiency 151 14 0 3 6 0 1 10
ALG8-CDG 39 4 0 2 7 0 1 10
ALS2-Related Disorders 87 19 0 2 8 0 1 10
Amyloidogenic transthyretin amyloidosis 115 27 0 5 3 0 3 10
Autoimmune lymphoproliferative syndrome, type 2A 96 9 1 6 2 0 2 10
Autosomal recessive limb-girdle muscular dystrophy type 2B 224 16 0 8 0 0 2 10
Brown-Vialetto-Van Laere syndrome 1 134 7 0 2 0 0 9 10
CC2D2A-Related Disorders 16 11 0 1 9 0 0 10
COG1 congenital disorder of glycosylation 74 4 0 3 7 0 0 10
Capillary malformation-arteriovenous malformation 90 6 0 7 3 0 0 10
Capillary malformation-arteriovenous malformation 1 118 8 0 7 3 0 0 10
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 21 0 0 3 7 0 0 10
Congenital disorder of glycosylation type 1t 64 8 0 5 5 0 0 10
Deoxygalactonojirimycin response 36 0 0 0 0 10 0 10
Dilated cardiomyopathy 1J 191 5 0 4 6 0 0 10
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 29 3 0 6 4 0 0 10
Endplate acetylcholinesterase deficiency 148 18 0 4 4 0 2 10
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 4 27 0 3 4 2 3 10
Familial hemiplegic migraine 211 12 0 8 2 0 0 10
Fetal akinesia sequence; Arthrogryposis multiplex congenita 55 3 0 1 0 0 9 10
Glycogen storage disease IIIa 8 1 4 7 0 0 0 10
Glycogen storage disease IXc 57 3 0 2 7 0 1 10
Hepatic veno-occlusive disease-immunodeficiency syndrome 114 19 2 5 4 0 0 10
Hyperammonemia, type III 60 7 0 3 7 0 0 10
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 43 3 0 4 6 0 0 10
Hypochondroplasia 18 0 10 0 0 0 1 10
Hypomyelinating leukodystrophy 7 181 4 8 0 0 0 2 10
Imerslund-Gräsbeck syndrome 292 14 0 2 2 0 6 10
Inborn genetic diseases 3156 39 0 6 0 0 4 10
Isolated macular dystrophy 7 1 0 8 0 0 5 10
Joubert syndrome 1 94 25 0 2 7 0 1 10
Junctional epidermolysis bullosa gravis of Herlitz 395 12 3 7 0 0 0 10
Leber congenital amaurosis 2; Retinitis pigmentosa 20 111 9 0 8 0 0 2 10
Leber congenital amaurosis 3 81 11 4 0 6 0 0 10
Maple syrup urine disease, type 3 120 12 0 7 3 0 0 10
Merosin deficient congenital muscular dystrophy 230 14 3 6 0 0 1 10
Multiple endocrine neoplasia, type 4 300 13 0 5 3 0 2 10
Neonatal pseudo-hydrocephalic progeroid syndrome 11 3 0 9 0 0 1 10
Neuromuscular disorder 13 2 0 7 1 0 4 10
Neuronal Ceroid-Lipofuscinosis, Recessive 127 6 0 4 6 0 0 10
Osteogenesis imperfecta 337 4 0 7 3 0 0 10
Parkinson disease 6, autosomal recessive early-onset 97 14 0 3 7 0 0 10
Peroxisome biogenesis disorder 13A 34 10 0 3 7 0 0 10
Peroxisome biogenesis disorder, complementation group K 42 10 0 3 7 0 0 10
Pustular psoriasis, generalized 79 3 0 2 4 0 5 10
Retinitis pigmentosa 25 103 15 0 7 1 0 2 10
Rubinstein-Taybi syndrome 1 270 19 0 4 4 0 2 10
Segawa syndrome, autosomal recessive 134 7 1 6 0 0 3 10
Seizures; Intellectual disability 43 6 0 5 4 1 2 10
Spondyloepiphyseal dysplasia with congenital joint dislocations 223 4 0 0 8 0 2 10
Usher syndrome, type 2A 268 11 0 6 3 0 2 10
Vitamin B12-responsive methylmalonic acidemia type cblA 187 14 0 5 5 0 0 10
Achondrogenesis, type IA 178 33 0 3 5 0 1 9
Adams-Oliver syndrome 5 793 7 0 6 1 0 2 9
Adenylosuccinate lyase deficiency 143 16 0 1 5 0 3 9
Alzheimer disease, type 4 69 7 2 4 2 0 1 9
Amyotrophic Lateral Sclerosis, Dominant 32 36 0 8 2 0 2 9
Autoimmune lymphoproliferative syndrome, type 2A; Autoimmune lymphoproliferative syndrome type 2 67 9 0 6 2 0 1 9
Beta-plus-thalassemia 17 18 0 2 0 6 1 9
Breast and colorectal cancer, susceptibility to 1 1 0 3 0 3 6 9
Brody myopathy 199 21 0 3 6 0 0 9
Catecholaminergic polymorphic ventricular tachycardia type 1 349 3 4 4 2 0 0 9
Ceroid lipofuscinosis neuronal 2 127 16 2 7 0 0 0 9
Charcot-Marie-Tooth disease type 4 1900 9 0 0 6 0 3 9
Chitotriosidase deficiency 81 4 0 2 6 2 0 9
Congenital defect of folate absorption 135 2 9 0 0 0 0 9
D-2-hydroxyglutaric aciduria 1 123 12 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
Diastrophic dysplasia 193 0 7 2 0 0 0 9
Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 72 18 0 2 4 0 3 9
Epilepsy, childhood absence 2; Familial febrile seizures 8 111 8 0 6 3 0 0 9
Familial hypertrophic cardiomyopathy 10 115 14 0 7 1 0 2 9
Familial isolated deficiency of vitamin E 84 3 4 5 0 0 3 9
Gamma-aminobutyric acid transaminase deficiency 221 17 0 2 6 0 1 9
Geleophysic dysplasia 1 124 6 5 0 4 0 0 9
Glycogen storage disease 0, muscle 148 14 0 4 5 0 0 9
Growth hormone deficiency 33 2 0 4 5 0 0 9
Hereditary Paraganglioma-Pheochromocytoma Syndromes 732 11 3 4 2 0 0 9
Hereditary diffuse leukoencephalopathy with spheroids 163 10 5 4 0 0 0 9
Hereditary factor VIII deficiency disease 373 23 0 5 3 0 1 9
Histiocytosis-lymphadenopathy plus syndrome 125 20 0 5 4 0 0 9
Hyperekplexia 3 45 2 8 1 0 0 0 9
Hyperinsulinism, Dominant/Recessive 3 8 0 6 3 1 0 9
Isolated sulfite oxidase deficiency 66 6 0 5 4 0 1 9
Li-Fraumeni syndrome 1 150 14 0 3 6 0 1 9
Maturity-onset diabetes of the young, type 2 203 8 1 3 3 0 2 9
Mental retardation, autosomal dominant 6 68 14 0 6 0 0 3 9
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 369 10 0 7 0 0 2 9
Multiple endocrine neoplasia, type 2 972 30 0 5 0 0 4 9
Neuronal ceroid lipofuscinosis 10 68 4 0 6 2 0 1 9
Neuronal ceroid lipofuscinosis 7 198 18 2 3 3 0 2 9
Nonsyndromic Hearing Loss, Mixed 32 13 0 3 6 0 0 9
Peroxisome biogenesis disorder 12A 79 1 0 2 7 0 0 9
Peroxisome biogenesis disorder 9B 59 5 0 5 4 0 0 9
Pigmentary pallidal degeneration 99 7 0 5 3 0 1 9
Rare genetic intellectual disability 38 10 0 6 2 0 1 9
Retinitis Pigmentosa, Dominant 96 55 0 6 3 0 0 9
Shprintzen-Goldberg syndrome 177 22 0 3 3 0 3 9
Spinocerebellar ataxia type 28 57 0 9 1 0 0 0 9
Succinyl-CoA acetoacetate transferase deficiency 77 3 0 6 3 0 0 9
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 155 11 0 1 8 0 0 9
TP63-Related Spectrum Disorders 109 19 0 8 3 0 0 9
Thiamine-responsive megaloblastic anemia 30 1 0 3 6 0 0 9
Xeroderma pigmentosum, group G 106 11 0 3 4 0 2 9
mitochondrial 42 25 0 2 6 0 2 9
Acute intermittent porphyria 84 4 0 3 2 0 3 8
Aicardi Goutieres syndrome 4 83 14 0 2 3 0 3 8
Aicardi Goutieres syndrome 5 140 16 0 2 2 0 4 8
Aicardi-Goutieres syndrome 6 5 0 0 8 0 0 0 8
Alport syndrome, autosomal recessive 249 16 0 7 0 0 1 8
Alzheimer disease, type 3 150 2 7 1 0 0 1 8
Autosomal recessive limb-girdle muscular dystrophy type 2E 107 5 0 8 0 0 0 8
Bardet-Biedl syndrome 10 153 9 0 3 1 0 4 8
Cerebral cavernous malformation 182 9 0 7 1 0 0 8
Char syndrome 18 2 7 0 1 0 0 8
Choreoacanthocytosis 229 10 0 3 5 0 0 8
Common Variable Immune Deficiency, Dominant 11 4 0 4 3 0 3 8
Congenital disorder of glycosylation type 1N 125 5 0 2 6 0 0 8
Congenital heart disease 23 0 0 0 0 0 8 8
Cranioectodermal dysplasia 2 163 2 5 1 0 0 2 8
Death in infancy 0 0 0 1 0 0 8 8
Deficiency of hydroxymethylglutaryl-CoA lyase 91 9 0 2 3 0 3 8
Deficiency of malonyl-CoA decarboxylase 114 10 0 3 4 0 1 8
Dyschromatosis universalis hereditaria 1 1 0 0 6 0 0 2 8
Dyskeratosis congenita, X-linked 30 15 8 0 0 0 0 8
EAST syndrome 141 12 0 2 5 0 1 8
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 463 11 0 1 4 0 3 8
Epilepsy, childhood absence 2 61 8 0 5 3 0 0 8
Epilepsy, progressive myoclonic 3 159 8 0 1 5 0 2 8
Factor VII Marburg I Variant Thrombophilia 94 1 0 7 1 1 0 8
GNE myopathy 185 10 0 6 0 0 3 8
Glycogen storage disease, type VII 84 6 0 6 3 0 0 8
Hemochromatosis type 1 54 11 0 2 5 0 1 8
Hereditary hemochromatosis 130 11 0 2 5 0 1 8
Hermansky-Pudlak syndrome 1 124 4 6 1 1 0 0 8
Hermansky-Pudlak syndrome 4 113 1 8 0 0 0 0 8
Hermansky-Pudlak syndrome 5 112 2 5 0 0 0 3 8
Hypohidrotic X-linked ectodermal dysplasia 139 13 0 5 3 0 1 8
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 77 0 8 0 0 0 0 8
Infantile-onset ascending hereditary spastic paralysis 145 0 8 1 0 0 0 8
Juvenile myoclonic epilepsy; Typical absence seizures 115 6 0 1 7 0 0 8
Koolen-de Vries syndrome 265 5 5 1 2 0 1 8
Lig4 syndrome 173 20 0 1 7 0 0 8
Lissencephaly due to LIS1 mutation 98 5 6 1 0 0 1 8
Lynch-like syndrome 93 39 0 3 1 0 4 8
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 24 2 8 0 0 0 0 8
Malignant hyperthermia susceptibility 83 1 0 3 2 4 0 8
Maturity-onset diabetes of the young, type 1 137 4 1 4 2 0 1 8
Mowat-Wilson syndrome 345 11 0 4 4 0 0 8
Mucolipidosis type III gamma 110 3 5 0 1 0 2 8
Mucopolysaccharidosis type 7 82 8 0 5 2 1 0 8
Nemaline Myopathy, Recessive 12 2 0 3 5 0 0 8
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 4 1 0 5 0 0 3 8
Primary autosomal recessive microcephaly 9 129 4 0 2 4 0 2 8
Pulmonary Surfactant Metabolism Dysfunction, Dominant 2 7 0 8 0 0 0 8
Retinitis pigmentosa 12; Leber congenital amaurosis 8 188 17 0 5 1 0 3 8
Rett syndrome, congenital variant 143 24 0 3 4 0 1 8
Rhizomelic chondrodysplasia punctata type 1 91 3 5 6 0 0 0 8
Roberts-SC phocomelia syndrome 94 4 7 1 0 0 0 8
Salt and pepper developmental regression syndrome 113 9 0 2 4 0 2 8
Severe myoclonic epilepsy in infancy 551 61 0 6 0 0 2 8
Sjögren-Larsson syndrome 134 10 0 7 0 0 1 8
Spastic paraplegia, autosomal dominant 55 2 0 5 3 0 0 8
Transient Neonatal Diabetes, Dominant 0 8 0 6 2 1 0 8
Transient Neonatal Diabetes, Dominant/Recessive 14 2 0 8 0 0 0 8
Unverricht-Lundborg syndrome 24 10 1 7 2 0 0 8
Usher syndrome 127 7 0 6 0 0 2 8
Usher syndrome type 1 473 6 0 6 0 0 2 8
Vici syndrome 345 9 0 3 4 0 1 8
3-Methylglutaconic aciduria type 2 105 4 0 4 1 0 2 7
ALG3-CDG 49 1 0 1 5 0 1 7
Abnormal bleeding 27 8 0 5 2 1 3 7
Arginase deficiency 81 11 0 3 2 0 2 7
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 31 10 0 5 1 0 1 7
Bifunctional peroxisomal enzyme deficiency 128 3 0 7 0 0 0 7
Breast-ovarian cancer, familial 3 49 3 0 2 3 1 1 7
Brown-Vialetto-Van Laere syndrome 2 144 8 0 2 0 0 5 7
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 208 15 0 5 0 0 2 7
Charcot-Marie-Tooth disease, dominant intermediate C 142 10 0 6 1 0 0 7
Charcot-Marie-Tooth disease, type 1C 109 8 3 2 3 0 0 7
Common variable immunodeficiency 8, with autoimmunity 465 8 0 2 3 0 2 7
Congenital Stationary Night Blindness, Recessive 45 4 0 4 3 0 0 7
Congenital disorder of glycosylation type 2H 46 3 0 4 3 0 0 7
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 206 18 0 0 5 0 2 7
Congenital myopathy with fiber type disproportion 171 0 7 0 0 0 0 7
Danon disease 217 9 0 6 1 0 0 7
Deafness, autosomal dominant 3a 91 7 0 5 0 0 2 7
Deficiency of 2-methylbutyryl-CoA dehydrogenase 162 8 0 2 3 0 3 7
Deficiency of isobutyryl-CoA dehydrogenase 80 6 0 3 1 0 3 7
Familial aortopathy 11 10 0 7 0 0 1 7
Familial hypertrophic cardiomyopathy 14 532 0 0 2 4 0 2 7
Fraser syndrome 1 500 39 0 0 6 0 1 7
Fucosidosis 57 8 0 3 3 0 1 7
Glycogen storage disease due to hepatic glycogen synthase deficiency 84 16 0 5 0 0 2 7
Hemochromatosis type 3 94 3 4 0 2 0 1 7
Hemoglobin H disease, nondeletional 1 3 0 0 0 7 0 7
Hermansky-Pudlak syndrome 3 93 1 6 1 0 0 0 7
Heterotaxy, visceral, 4, autosomal 223 5 0 5 2 0 1 7
Holoprosencephaly 2 21 0 6 1 0 0 1 7
Holt-Oram syndrome 271 4 0 5 1 0 1 7
Hyperekplexia 2 77 1 2 6 0 0 0 7
Hypofibrinogenemia 14 2 0 0 2 5 2 7
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 21 3 0 6 0 0 1 7
Islet cell hyperplasia 72 2 0 4 2 0 1 7
Joubert syndrome; Meckel-Gruber syndrome 697 11 0 5 1 0 1 7
Kleefstra syndrome 1 425 9 3 3 2 0 0 7
Leber congenital amaurosis 13 82 14 1 5 0 0 1 7
Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 0 17 0 0 7 0 0 7
Malignant hypothermia 2 5 0 1 6 0 1 7
Meckel syndrome, type 3 93 0 0 5 0 0 2 7
Metaphyseal chondrodysplasia, McKusick type 144 8 1 6 0 0 0 7
Methylmalonic acidemia with homocystinuria cblD 53 8 0 3 4 0 0 7
Microphthalmia syndromic 9 92 11 0 2 5 0 0 7
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 49 4 0 2 6 0 0 7
Mitochondrial complex I deficiency 108 5 0 3 3 0 1 7
Mitochondrial complex I deficiency, nuclear type 1 718 5 0 3 3 0 1 7
Mucopolysaccharidosis, MPS-III-C 162 7 0 3 1 0 3 7
Myopathy, proximal, and ophthalmoplegia 319 23 0 4 2 0 3 7
Neurodegeneration with brain iron accumulation 4 148 3 0 7 0 0 1 7
Neuronal ceroid lipofuscinosis 6 53 2