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 Variants with at least 2 submissions 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 kind of conflict
590298 117104 2292 40436 37156 1158 8902 78292
Total conditions with conflicts: 7646
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Filter Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not provided 199566 42955 994 19246 21923 477 5014 41712
not specified 37633 28391 327 21298 17009 345 1663 33584
Hereditary cancer-predisposing syndrome 22105 30226 287 4817 5610 88 953 9915
Cardiovascular phenotype 1956 2632 7 2549 1875 10 323 3815
Hereditary breast and ovarian cancer syndrome 2262 4776 46 1120 1336 14 193 2061
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2953 1246 0 1070 1548 1 60 2027
Cardiomyopathy 1021 1022 5 1323 1213 5 171 2020
History of neurodevelopmental disorder 1529 1079 3 1446 829 3 49 1963
Hypertrophic cardiomyopathy 1425 1237 3 833 917 3 261 1810
Tibial muscular dystrophy 5 440 1 1025 1107 0 14 1395
Myopathy, early-onset, with fatal cardiomyopathy 4 432 2 390 1104 0 13 1391
Dilated cardiomyopathy 1G 71 434 0 434 1091 1 14 1389
Myopathy, myofibrillar, 9, with early respiratory failure 5 435 0 1024 1104 0 11 1387
Limb-girdle muscular dystrophy, type 2J 18 426 1 367 1089 0 12 1381
Breast-ovarian cancer, familial 2 1358 3612 43 699 795 4 108 1250
Retinitis pigmentosa 2130 1396 18 458 619 1 141 1121
Hereditary nonpolyposis colon cancer 2350 3513 80 487 602 2 122 1074
Familial hypercholesterolemia 1 1375 557 2 705 279 8 334 1056
Breast-ovarian cancer, familial 1 3989 3322 32 505 497 6 145 884
Inborn genetic diseases 1685 716 47 413 176 35 286 803
Long QT syndrome 1554 981 1 425 364 3 112 781
Tuberous sclerosis 2 1611 642 10 432 456 1 15 771
Familial cancer of breast 2026 2662 24 422 369 22 86 767
Retinal dystrophy 1617 680 18 457 98 6 247 731
Ataxia-telangiectasia syndrome 2095 2327 1 350 334 3 48 663
Seizures 309 428 7 472 270 4 47 663
Lynch syndrome 1391 850 116 392 232 1 84 657
Familial thoracic aortic aneurysm and aortic dissection 648 842 1 366 325 4 58 639
Primary ciliary dyskinesia 3112 506 13 290 366 1 31 629
Bethlem myopathy 1 677 315 0 276 318 0 37 540
Familial hypercholesterolemia 463 205 0 342 245 6 135 526
Early infantile epileptic encephalopathy 1697 367 0 297 193 1 84 492
Brugada syndrome 1158 591 1 235 198 3 85 440
Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 740 339 0 151 293 0 0 418
Fanconi anemia 1890 541 6 236 201 2 18 416
Charcot-Marie-Tooth disease 801 168 5 20 48 2 361 414
Collagen VI-related myopathy 202 122 0 266 234 1 12 413
Familial adenomatous polyposis 1 1641 1666 34 186 212 15 24 390
Dilated Cardiomyopathy, Dominant 149 487 0 185 223 1 8 387
Nemaline myopathy 2 1480 245 1 184 215 0 14 386
Marfan syndrome 796 372 5 243 122 1 79 382
Leigh syndrome 1808 537 3 145 175 6 76 379
Spinocerebellar ataxia, autosomal recessive 8 39 184 0 136 257 0 4 376
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 7 177 0 225 257 0 4 373
Neurofibromatosis, type 1 2355 1324 8 174 146 1 70 364
Rasopathy 415 255 25 240 136 1 33 364
Charcot-Marie-Tooth disease, type 2 816 465 6 182 140 2 77 357
Neoplasm of the breast 61 308 15 183 100 12 109 354
RYR1-Related Disorders 666 266 10 146 176 23 44 340
Spastic paraplegia 881 210 3 176 198 1 17 338
Cystic fibrosis 822 548 5 198 80 42 106 320
Li-Fraumeni syndrome 346 312 6 134 69 6 135 312
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 322 216 0 174 207 0 4 304
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 654 272 1 181 91 0 75 301
Primary dilated cardiomyopathy 581 258 3 151 102 0 79 300
Catecholaminergic polymorphic ventricular tachycardia 791 357 2 178 143 0 16 286
Duchenne muscular dystrophy 1288 304 1 138 192 1 11 285
Autosomal recessive polycystic kidney disease 646 160 1 124 137 1 42 274
Connective tissue disease 146 93 0 171 153 0 8 272
Primary familial hypertrophic cardiomyopathy 205 163 2 109 113 2 89 267
Tuberous sclerosis 1 677 361 4 139 170 0 4 262
Ehlers-Danlos syndrome, classic type 536 241 1 163 112 1 13 259
Rare genetic deafness 317 150 25 187 0 17 58 245
Breast and/or ovarian cancer 19 161 18 146 162 4 36 244
Central core myopathy 24 256 21 107 133 14 23 243
Neoplasm of the large intestine 17 162 8 170 0 12 84 241
Malignant hyperthermia, susceptibility to, 1 38 246 3 95 145 23 16 238
Usher syndrome type 1 57 185 6 92 151 0 22 238
Bardet-Biedl syndrome 517 201 6 126 109 2 26 237
Lung adenocarcinoma 12 153 3 150 0 17 97 233
Neuronal ceroid lipofuscinosis 474 218 14 139 101 0 30 233
Romano-Ward syndrome 12 396 1 125 115 2 4 232
Lynch syndrome I 118 210 42 106 142 0 20 231
Qualitative or quantitative defects of dysferlin 293 180 0 93 161 0 19 231
Charcot-Marie-Tooth disease type 4 1037 361 9 85 134 0 32 230
Limb-Girdle Muscular Dystrophy, Recessive 7 309 1 97 129 0 5 220
Colorectal cancer, susceptibility to, 12 1871 809 0 110 120 2 10 219
Cohen syndrome 778 108 19 118 97 0 13 214
Hereditary diffuse gastric cancer 495 632 3 125 100 0 11 211
Joubert syndrome; Meckel-Gruber syndrome 245 81 1 119 120 2 19 208
Tuberous sclerosis syndrome 1383 755 13 113 120 0 0 208
Squamous cell carcinoma of the head and neck 19 154 0 126 12 7 91 207
Glycogen storage disease, type II 451 154 6 99 87 4 28 205
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 619 130 0 121 107 0 1 204
Adenocarcinoma of stomach 0 158 2 132 1 8 82 203
Progressive sclerosing poliodystrophy 294 158 7 111 100 0 48 203
Gastrointestinal stromal tumor 1361 311 9 100 110 8 10 202
Pheochromocytoma 201 190 4 125 94 7 10 201
Minicore myopathy 8 226 2 73 133 5 7 198
Arrhythmogenic right ventricular cardiomyopathy 174 164 1 106 97 2 19 196
Nephronophthisis 249 215 0 83 127 3 8 192
Intellectual Disability, Dominant 60 72 0 73 119 0 0 189
Mitochondrial complex I deficiency, nuclear type 1 280 261 0 55 130 0 5 189
Familial hypertrophic cardiomyopathy 1 97 89 0 86 89 0 44 188
Spinocerebellar Ataxia, Dominant 212 112 0 117 96 0 2 188
Hereditary nonpolyposis colorectal cancer type 5 50 205 21 74 121 0 7 184
Usher syndrome, type 2C 200 68 0 87 102 0 6 184
Weill-Marchesani syndrome 87 286 2 115 122 0 4 184
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 171 83 0 106 144 1 16 183
Deafness, autosomal recessive 12 28 198 0 32 144 0 11 180
Familial cancer of breast; Fanconi anemia, complementation group J 559 720 0 82 96 0 19 180
Gorlin syndrome 933 484 5 80 106 0 19 179
Usher syndrome type 1D 15 202 2 62 146 0 7 179
Hepatocellular carcinoma 14 85 5 110 3 9 79 177
Phenylketonuria 194 222 14 116 10 0 51 177
Ehlers-Danlos syndrome, type 7A 82 43 0 119 62 0 1 176
Neuromuscular disease, congenital, with uniform type 1 fiber 0 144 1 90 111 1 4 176
Pancreatic adenocarcinoma 153 90 1 97 7 8 81 172
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 369 196 0 106 96 0 4 171
Aortic aneurysm, familial thoracic 4 254 169 0 94 108 0 5 170
Catecholaminergic polymorphic ventricular tachycardia type 1 38 148 4 84 107 1 10 169
Colorectal cancer 10 936 495 0 85 96 3 0 168
Charcot-Marie-Tooth disease, axonal, type 2O 332 149 0 86 103 0 6 166
Familial hypercholesterolemia 2 3 124 0 80 140 5 11 166
Malignant melanoma of skin 2 112 3 125 0 14 52 166
Transitional cell carcinoma of the bladder 1 109 3 116 0 7 60 166
Laminin alpha 2-related dystrophy 415 132 3 85 87 0 9 162
Brugada syndrome 1 20 100 0 74 98 2 32 161
Ovarian Neoplasms 145 130 9 114 0 10 63 161
Renal cell carcinoma, papillary, 1 537 284 13 86 60 3 28 160
Neoplasm of brain 2 77 0 98 0 9 73 158
Squamous cell lung carcinoma 7 107 0 90 0 5 80 158
Wilson disease 415 103 3 94 58 0 34 158
Deafness, autosomal recessive 2 27 133 1 51 104 0 9 156
Hereditary Paraganglioma-Pheochromocytoma Syndromes 325 187 10 93 64 2 20 155
Hypobetalipoproteinemia, familial, 1 8 121 0 32 128 5 12 155
Ellis-van Creveld syndrome 268 153 0 74 79 0 8 154
Multiple endocrine neoplasia, type 2 409 324 11 73 96 4 14 154
Malignant neoplasm of body of uterus 0 134 4 111 0 12 53 153
Ovarian Serous Cystadenocarcinoma 0 73 0 79 0 4 86 152
PTEN hamartoma tumor syndrome 413 253 2 99 31 2 45 152
Severe myoclonic epilepsy in infancy 403 212 0 99 65 0 24 152
Arrhythmia 67 115 0 101 90 2 19 151
Familial hypertrophic cardiomyopathy 4 30 84 0 90 63 0 30 151
MYH-associated polyposis 287 385 16 64 77 0 28 151
Peutz-Jeghers syndrome 405 346 0 74 93 0 10 151
Carcinoma of esophagus 0 78 1 83 1 5 78 150
Ciliary dyskinesia, primary, 3 202 110 2 42 103 1 8 150
Arrhythmogenic right ventricular dysplasia, familial, 2 3 135 0 50 100 0 3 148
Fanconi anemia, complementation group D1 2 69 17 72 121 2 4 148
Stargardt disease 1 79 156 2 87 40 7 49 148
Hyperkalemic Periodic Paralysis Type 1 224 159 6 75 97 0 13 147
Microcephaly, normal intelligence and immunodeficiency 471 516 1 63 91 2 9 147
Pendred syndrome 105 183 5 84 45 30 14 146
CHARGE association 436 173 1 91 69 1 7 145
Limb-girdle muscular dystrophy, type 2A 208 126 4 80 45 0 30 145
Retinitis Pigmentosa, Recessive 121 196 4 74 83 3 18 144
Juvenile polyposis syndrome 527 572 9 69 70 1 13 143
Nonsyndromic Hearing Loss, Dominant 79 158 0 81 67 0 6 143
Hereditary sensory and autonomic neuropathy type II 4 136 0 95 62 0 0 142
Permanent neonatal diabetes mellitus 35 88 30 52 72 1 4 142
Rhabdoid tumor predisposition syndrome 2 749 702 0 78 72 0 3 142
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 140 55 0 93 58 0 5 141
Jeune thoracic dystrophy 192 122 2 62 60 1 32 141
Lynch syndrome II 38 124 19 76 85 1 17 141
Malignant hyperthermia susceptibility 0 84 0 83 67 5 1 141
Nonsyndromic Hearing Loss, Recessive 121 137 0 48 90 0 1 139
Charlevoix-Saguenay spastic ataxia 400 44 3 47 89 0 8 138
Left ventricular noncompaction cardiomyopathy 66 152 0 77 75 1 5 137
Deafness, autosomal dominant 11 7 121 0 61 104 0 6 136
Glioblastoma 5 88 0 94 0 6 52 136
Enlarged vestibular aqueduct 46 169 5 54 50 40 8 135
Fanconi anemia, complementation group A 254 148 2 72 60 2 12 135
Monogenic diabetes 89 51 1 72 70 4 11 135
Niemann-Pick disease type C1 255 72 7 84 41 0 20 134
Congenital contractural arachnodactyly 410 165 0 79 69 0 5 133
Osteogenesis imperfecta 71 147 2 84 80 0 6 133
Usher syndrome, type 2A; Retinitis pigmentosa 39 187 150 1 67 37 1 41 133
Joubert syndrome 235 71 2 85 39 1 20 132
Ellis-van Creveld syndrome; Curry-Hall syndrome 167 62 0 69 73 0 4 131
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 120 59 0 100 56 0 3 131
Macular degeneration 36 121 4 83 57 4 17 128
Craniosynostosis 57 164 7 91 50 0 4 127
Alstrom syndrome 941 214 1 65 65 1 6 126
Congenital disorder of glycosylation 391 67 1 61 62 0 4 124
Spastic paraplegia 11, autosomal recessive 611 61 42 40 49 1 7 124
Familial hypertrophic cardiomyopathy 14 233 120 0 61 79 0 4 123
Primary autosomal recessive microcephaly 5 250 78 28 52 56 0 2 123
Adams-Oliver syndrome 5 408 205 0 76 47 1 5 121
Bloom syndrome 621 306 0 68 67 0 5 121
Non-ketotic hyperglycinemia 497 56 22 69 37 0 16 120
Hereditary nonpolyposis colorectal cancer type 4 29 96 29 54 70 0 6 119
Hypokalemic periodic paralysis 1 43 54 10 74 44 1 3 118
Deafness, autosomal recessive 3 220 57 0 20 92 0 11 117
Kabuki syndrome 240 54 0 75 54 0 5 117
Long QT syndrome 3 12 92 0 68 74 2 17 117
Long QT syndrome 1 39 87 0 71 39 1 24 116
Primary erythromelalgia 6 79 4 84 62 0 10 116
Acromicric dysplasia 2 126 0 85 78 0 2 115
Paroxysmal extreme pain disorder 6 102 0 86 65 0 9 115
Paroxysmal familial ventricular fibrillation 1 3 76 0 46 80 2 10 115
Stiff skin syndrome 4 123 0 85 77 0 2 115
Ehlers-Danlos syndrome, type 4 613 130 0 76 43 0 5 114
See cases 24210 382 15 18 47 0 44 114
Donnai-Barrow syndrome 253 49 8 67 44 0 1 113
Geleophysic dysplasia 7 78 0 87 75 0 1 113
Acute myeloid leukemia 323 51 1 81 4 5 35 112
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 232 47 2 62 10 3 49 112
Indifference to pain, congenital, autosomal recessive 7 79 0 53 63 0 10 112
Maple syrup urine disease 453 55 4 70 25 0 24 112
Distal arthrogryposis type 2B 13 67 0 62 50 0 2 111
Ectopia lentis, isolated, autosomal dominant 0 88 1 84 73 0 2 111
Hypokalemic periodic paralysis, type 2 1 96 5 58 87 0 1 111
Adenocarcinoma of prostate 7 69 4 79 0 7 36 110
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 977 635 0 50 65 0 2 110
Noonan syndrome 101 228 6 77 21 0 14 110
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 220 97 0 57 60 0 8 109
Hyperinsulinemic hypoglycemia, familial, 1 148 60 0 45 57 0 10 109
Sick sinus syndrome 1, autosomal recessive 0 77 0 58 76 2 11 109
Autosomal dominant nocturnal frontal lobe epilepsy 245 94 1 55 67 0 2 108
Deafness, autosomal recessive 9 174 32 13 31 58 5 11 108
MYH9-related disorder 21 114 7 58 59 0 0 108
Uterine Carcinosarcoma 0 66 0 67 0 3 50 108
Aortic aneurysm, familial thoracic 7 296 126 0 43 75 0 3 107
Congenital muscular dystrophy due to partial LAMA2 deficiency 97 67 0 35 72 0 6 107
Congenital myasthenic syndrome, acetazolamide-responsive 3 96 0 19 88 0 2 107
Dilated cardiomyopathy 1E 0 80 0 46 75 2 10 107
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 254 119 0 67 47 0 10 107
Progressive familial heart block, type 1A 2 76 0 40 77 2 10 107
APC-Associated Polyposis Disorders 48 37 8 42 62 15 2 106
Arrhythmogenic right ventricular cardiomyopathy, type 9 227 120 1 65 54 0 5 106
Charcot-Marie-Tooth disease, type 4C 12 447 11 34 57 0 14 106
Charcot-Marie-Tooth disease, type I 213 100 7 33 25 0 59 106
Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 229 59 4 66 42 1 4 106
Paramyotonia congenita of von Eulenburg 4 106 0 58 87 0 1 106
Potassium aggravated myotonia 1 104 0 57 87 0 1 106
Multiple myeloma 47 40 2 82 0 6 26 105
Neuroblastoma 84 110 4 66 31 7 8 105
ABCA4-Related Disorders 55 56 4 43 50 5 36 104
Myopathy, distal, 1 7 62 1 62 69 1 12 104
Usher syndrome, type 2A 49 125 3 59 44 1 26 104
Arrhythmogenic right ventricular cardiomyopathy, type 10 142 124 0 54 54 1 16 103
Atrial septal defect 0 96 0 47 56 0 1 103
Biotinidase deficiency 198 27 5 54 8 2 60 103
Dilated cardiomyopathy 1DD 281 86 1 35 78 0 8 103
Retinoblastoma 555 140 2 51 62 0 4 103
Very long chain acyl-CoA dehydrogenase deficiency 296 62 5 59 22 0 35 103
Freeman-Sheldon syndrome 6 62 0 60 49 0 1 102
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 439 75 0 58 68 0 16 102
Autosomal dominant nonsyndromic deafness 17 1 97 2 49 59 0 0 101
Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 318 93 0 52 61 0 7 100
Fanconi anemia, complementation group J 43 111 0 59 49 0 3 99
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 248 80 1 51 66 1 7 99
Generalized epilepsy with febrile seizures plus 0 65 0 72 50 0 7 98
Hereditary cutaneous melanoma 239 261 3 37 49 9 19 98
Lethal acantholytic epidermolysis bullosa 1 101 0 45 67 0 2 98
Metachromatic leukodystrophy 214 43 13 58 29 2 16 98
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 930 132 0 54 46 1 4 98
Myosclerosis 0 34 0 66 52 1 3 98
Pitt-Hopkins-like syndrome 1 224 219 0 54 67 1 5 98
Autosomal recessive pseudohypoaldosteronism type 1 14 120 0 20 78 0 5 97
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 4 100 0 44 67 0 2 97
Hirschsprung disease 1 40 52 2 47 63 8 6 96
Schwartz-Jampel syndrome 16 371 0 38 63 0 1 96
Myosin storage myopathy 1 51 0 30 68 1 9 95
CFTR-related disorders 47 42 2 39 51 7 43 94
Deafness, autosomal recessive 77 121 49 0 24 79 0 2 94
Early infantile epileptic encephalopathy 12 300 77 0 47 62 0 5 94
Lethal Kniest-like syndrome 5 364 0 37 62 0 1 94
Venous thrombosis 3 144 0 58 41 2 4 94
Alport syndrome 285 64 0 32 57 0 7 93
Arrhythmogenic right ventricular cardiomyopathy, type 8 16 82 0 41 66 0 1 93
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 5 87 0 70 0 25 27 93
Deafness, autosomal recessive 1A 48 74 14 58 28 1 23 93
Fabry disease 111 57 1 31 18 48 20 93
Brittle cornea syndrome 1 152 59 0 42 51 0 1 92
Familial febrile seizures 0 64 0 68 47 0 6 92
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 158 66 1 48 57 0 5 92
Mitochondrial complex II deficiency; Paragangliomas 5 463 230 0 41 52 0 19 92
Severe neonatal-onset encephalopathy with microcephaly 91 61 0 57 36 1 16 92
Cardiac arrhythmia, ankyrin B-related 102 67 0 41 56 0 5 91
Propionic acidemia 287 48 12 44 38 0 10 91
Congenital myasthenic syndrome 66 101 0 35 51 0 10 90
Joubert syndrome 17 137 27 5 48 33 0 10 90
Miyoshi myopathy 0 110 0 27 63 0 3 90
Multiple endocrine neoplasia, type 2a 32 109 9 48 54 4 9 90
WFS1-Related Spectrum Disorders 2 123 1 47 48 0 6 90
Galactosylceramide beta-galactosidase deficiency 227 48 0 42 40 4 14 89
Iodotyrosyl coupling defect 171 21 0 18 66 3 3 89
Kabuki syndrome 1 258 47 0 50 34 0 11 89
Short-rib thoracic dysplasia 3 with or without polydactyly 98 103 0 37 48 0 11 89
Hereditary pyropoikilocytosis 7 191 0 21 65 0 8 88
Microcephalic osteodysplastic primordial dwarfism type II 259 134 0 41 53 0 0 88
Renal hypodysplasia/aplasia 1 29 82 2 42 55 2 2 88
Autosomal dominant nonsyndromic deafness 6 2 116 3 48 46 0 4 87
Blau syndrome 41 63 0 37 64 5 1 87
Hypogonadotropic hypogonadism 5 with or without anosmia 57 68 0 51 51 0 1 87
Kleefstra syndrome 1 292 39 4 41 48 0 0 87
Mononeuropathy of the median nerve, mild 0 446 2 32 58 0 1 87
Spastic paraplegia 30, autosomal recessive 73 51 0 35 55 0 1 87
Cutaneous melanoma 71 13 1 77 0 8 12 86
Elliptocytosis 2 5 169 0 40 64 0 7 86
Epidermolysis bullosa simplex due to plakophilin deficiency 139 66 0 52 56 0 0 86
Familial hypercholesterolemia 3 36 78 0 48 50 3 20 86
Inflammatory bowel disease 1 7 41 0 29 62 5 0 86
Dilated cardiomyopathy 3B 93 49 0 28 60 0 2 85
MASS syndrome 3 78 0 61 53 0 1 85
Multiple endocrine neoplasia 4 85 4 56 57 2 3 85
Smith-Lemli-Opitz syndrome 160 38 12 44 33 0 15 85
Breast-ovarian cancer, familial 4 166 256 0 34 48 3 8 84
Classic homocystinuria 182 70 0 58 23 0 11 84
Multiple endocrine neoplasia, type 1 440 215 4 52 31 0 13 84
Norman-Roberts syndrome 94 49 0 45 43 0 7 84
Vitreoretinopathy 4 146 0 67 24 0 1 84
Epilepsy, focal, with speech disorder and with or without mental retardation 403 66 0 42 47 1 6 83
Fumarase deficiency 268 155 6 37 28 0 27 83
Left ventricular noncompaction 10 5 33 0 53 51 0 11 83
Peroxisome biogenesis disorder 1A (Zellweger) 231 78 0 49 36 0 6 83
Pseudohypoaldosteronism type 2C 40 77 0 65 32 0 0 83
Spherocytosis type 3 6 162 0 18 64 0 7 83
Wagner syndrome 2 154 0 66 24 0 0 83
Dilated cardiomyopathy 21 20 0 50 59 0 12 82
Factor V deficiency 39 125 0 55 30 2 4 82
Glycogen storage disease type III 472 62 9 51 27 0 5 82
Benign familial neonatal seizures 2 86 91 0 58 21 0 6 81
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 176 54 0 52 32 0 11 81
Charcot-Marie-Tooth Neuropathy X 69 38 6 28 2 0 60 81
Ehlers-Danlos syndrome classic type 2 11 11 0 67 23 0 0 81
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 249 155 1 34 29 0 23 81
Oligodontia-colorectal cancer syndrome 804 235 0 47 49 0 1 81
Renal carnitine transport defect 239 60 0 43 23 0 22 81
beta Thalassemia 154 97 7 51 14 15 18 80
Holoprosencephaly 7 2 100 4 46 44 0 6 79
Li-Fraumeni syndrome 1 38 50 2 41 32 3 18 79
Mitochondrial complex IV deficiency 197 141 0 26 50 0 7 79
Neoplasm of ovary 22 39 5 50 26 1 16 79
Budd-Chiari syndrome 46 128 0 52 30 1 0 78
Familial hypoalphalipoproteinemia 4 178 0 18 58 0 2 78
Spherocytosis type 1 28 136 0 33 59 0 1 78
Tangier disease 16 177 0 17 58 0 3 78
Von Hippel-Lindau syndrome 288 101 0 45 20 0 23 78
Citrullinemia type I 138 51 0 42 29 0 13 77
Focal cortical dysplasia type II 4 197 3 57 45 0 3 77
Neuroblastoma 3 956 166 6 43 34 5 4 77
Parkinson disease 8, autosomal dominant 220 13 28 18 46 1 5 77
Transient neonatal diabetes mellitus 2 1 42 0 37 55 0 3 77
Hereditary spastic paraplegia 15 166 35 0 32 46 0 1 76
Infantile cortical hyperostosis 1 81 2 20 55 0 3 76
Neural tube defect 26 127 0 42 31 3 0 76
Pfeiffer syndrome 5 76 0 54 26 0 0 76
Thrombophilia due to activated protein C resistance 3 104 0 52 28 1 1 76
Walker-Warburg congenital muscular dystrophy 182 89 0 34 44 0 10 76
Charcot-Marie-Tooth disease axonal type 2C 119 90 0 50 29 1 9 75
Familial Mediterranean fever 189 119 2 31 43 0 28 75
Koolen-de Vries syndrome 143 26 5 37 37 0 2 75
POLG-Related Spectrum Disorders 27 30 4 24 47 0 11 75
Curry-Hall syndrome 4 96 0 31 48 0 0 74
Ehlers-Danlos syndrome, procollagen proteinase deficient 4 63 0 46 54 0 3 74
Amyotrophic lateral sclerosis type 4 5 123 0 31 48 0 4 73
Chédiak-Higashi syndrome 415 69 11 22 44 0 3 73
Coffin-Siris syndrome 15 30 0 64 18 0 0 73
Fibrochondrogenesis 1 7 106 0 23 50 1 0 73
Lethal multiple pterygium syndrome 131 138 0 28 45 0 5 73
Multiple fibrofolliculomas 284 280 5 37 42 1 7 73
Otospondylomegaepiphyseal dysplasia, autosomal dominant 7 77 0 30 48 0 0 73
Polycystic kidney disease, adult type 323 122 1 55 12 1 13 73
Dyskeratosis congenita 447 45 3 39 27 0 9 72
Fanconi anemia, complementation group O 233 301 0 29 31 4 11 72
Otospondylomegaepiphyseal dysplasia, autosomal recessive 7 75 0 31 48 0 0 72
Primary hyperoxaluria, type I 196 22 0 43 34 1 4 72
Congenital stationary night blindness, autosomal dominant 2 1 48 0 19 57 0 5 71
Fibrochondrogenesis 2 3 70 0 26 48 0 0 71
Small cell lung cancer 2 27 0 43 0 1 36 71
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 162 73 0 34 36 0 17 71
Squamous cell carcinoma of the skin 0 36 0 42 0 2 38 71
von Willebrand disorder 105 55 0 52 12 1 10 71
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 6 107 3 48 24 1 0 70
Autosomal recessive limb-girdle muscular dystrophy type 2B 108 67 0 47 18 1 16 70
Brain small vessel disease 1 with or without ocular anomalies 12 96 7 46 22 0 0 70
Disorders of Intracellular Cobalamin Metabolism 365 78 0 28 42 2 3 70
Familial restrictive cardiomyopathy 3 87 0 42 27 1 3 70
Finnish congenital nephrotic syndrome 150 12 27 45 10 0 8 70
Hereditary pancreatitis 164 60 8 31 19 11 23 70
Spherocytosis 0 132 0 15 56 0 0 70
Timothy syndrome 5 160 2 38 36 0 3 70
Benign familial neonatal seizures 110 95 0 44 26 0 6 69
Cholestanol storage disease 110 24 34 30 21 0 9 69
Osteogenesis imperfecta type I 326 96 3 41 39 1 7 69
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 18 127 0 25 46 0 2 69
Stickler syndrome type 2 8 89 0 25 46 1 0 69
Beckwith-Wiedemann syndrome 462 61 0 42 28 0 4 68
Deafness, autosomal dominant 22 8 105 0 24 56 0 2 68
Fraser syndrome 1 343 99 0 32 36 1 2 68
Joubert syndrome 5 14 89 0 26 47 0 3 68
Juvenile myoclonic epilepsy 60 63 0 46 25 2 2 68
Long QT syndrome 2 66 62 0 26 41 1 12 68
Medulloblastoma 85 42 2 46 10 8 11 68
Pitt-Hopkins-like syndrome 2 312 76 1 41 47 1 2 68
Werner syndrome 914 63 4 34 38 0 0 68
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2 112 0 52 35 0 0 68
Benign familial neonatal-infantile seizures 53 52 0 50 26 0 4 67
Caudal regression sequence 0 111 0 35 31 1 0 66
Cone-Rod Dystrophy, Recessive 29 60 4 44 32 3 16 66
Deafness, autosomal recessive 37 2 103 0 10 56 0 1 66
Intellectual disability 193 60 1 47 6 1 20 66
Meckel syndrome, type 4 11 76 1 21 46 0 0 66
Myofibrillar myopathy, ZASP-related 92 82 0 33 35 0 7 66
Neurofibromatosis-Noonan syndrome 1 99 1 31 42 0 1 66
Rolandic epilepsy 40 6 0 5 0 0 65 66
Uterine cervical neoplasms 0 66 2 52 0 2 18 66
Combined saposin deficiency 2 43 0 25 49 0 0 65
Medium-chain acyl-coenzyme A dehydrogenase deficiency 169 40 0 42 8 1 24 65
Mitochondrial complex II deficiency 22 21 0 26 36 0 7 65
Rett syndrome 386 109 0 32 13 1 27 65
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 126 54 9 33 15 0 17 64
Corneal dystrophy 117 118 0 17 46 0 4 64
Hyperaldosteronism, familial, type I 1 147 0 30 42 0 1 64
Junctional epidermolysis bullosa gravis of Herlitz 235 115 5 27 25 0 9 64
Marshall syndrome 2 58 0 25 42 1 0 64
Merosin deficient congenital muscular dystrophy 118 70 4 43 11 0 11 64
Mowat-Wilson syndrome 266 49 0 36 34 0 1 64
Mucolipidosis type II; Pseudo-Hurler polydystrophy 100 13 20 24 19 0 5 64
Neuronal Ceroid-Lipofuscinosis, Recessive 34 45 1 48 16 0 1 64
Stickler syndrome type 1 28 69 0 25 40 0 0 64
Tay-Sachs disease 165 34 0 36 14 2 14 64
Tumor susceptibility linked to germline BAP1 mutations 286 243 0 27 39 0 4 64
Type II Collagenopathies 0 59 0 34 41 0 0 64
Café-au-lait macules with pulmonary stenosis 2 98 1 27 41 0 1 63
Cardio-facio-cutaneous syndrome 13 125 1 50 14 1 3 63
Hypogonadotropic hypogonadism 2 with or without anosmia 18 81 0 40 25 2 2 63
Junctional epidermolysis bullosa 207 49 1 18 40 0 5 63
Neurofibromatosis, familial spinal 3 99 1 27 41 0 1 63
Progressive myoclonic epilepsy 328 77 0 35 37 0 5 63
Scapuloperoneal myopathy 0 29 0 39 40 1 3 63
Usher syndrome 28 23 3 36 11 1 36 63
Congenital disorder of glycosylation, type Ia 162 15 10 36 11 0 13 62
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 122 95 0 34 40 0 3 62
Fanconi anemia, complementation group C 131 34 0 38 25 0 3 62
Jervell and Lange-Nielsen syndrome 1 11 45 0 31 33 0 3 62
Distal spinal muscular atrophy 48 55 0 25 21 0 27 61
Hereditary hemorrhagic telangiectasia type 1 158 94 1 34 31 1 6 61
Short QT syndrome 2 1 43 0 41 34 0 3 61
Atrial fibrillation, familial, 3 0 44 0 27 33 0 4 60
Bardet-Biedl syndrome 14 0 75 0 19 48 0 1 60
Dilated cardiomyopathy 1JJ 114 83 0 40 25 0 1 60
Glycogen storage disease, type V 166 34 0 25 33 0 7 60
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 626 33 0 26 32 3 19 60
Joubert syndrome 9 26 72 0 23 35 0 9 60
Leber congenital amaurosis 10 6 77 2 13 46 0 1 60
Mental retardation, autosomal dominant 1 178 36 0 28 48 0 2 60
Autosomal recessive congenital ichthyosis 1 109 23 0 31 23 0 10 59
Danon disease 99 51 0 39 27 0 1 59
Dystrophic epidermolysis bullosa 167 27 0 19 40 0 4 59
Neuronal ceroid lipofuscinosis 4B 44 45 0 46 13 0 0 59
Spinal muscular atrophy, distal, autosomal recessive, 1 64 38 0 24 35 0 9 59
Thyroid dyshormonogenesis 6 142 19 0 13 41 0 5 59
Arrhythmogenic right ventricular cardiomyopathy, type 11 181 78 0 28 38 0 5 58
Autosomal dominant pseudohypoaldosteronism type 1 167 92 0 41 17 0 0 58
Bardet-Biedl syndrome 1 83 49 1 41 18 0 5 58
Chronic lymphocytic leukemia 3 43 0 41 0 1 24 58
Cockayne syndrome B 19 112 0 16 41 0 3 58
Congenital hyperammonemia, type I 224 34 0 32 26 0 6 58
Deafness, autosomal recessive 2; Usher syndrome type 1 107 66 0 28 20 0 16 58
FLNB-Related Spectrum Disorders 157 43 0 30 29 0 0 58
Familial hyperinsulinism 5 73 2 36 20 0 3 58
Fanconi anemia, complementation group N 10 18 0 25 37 3 3 58
Mucolipidosis type II 68 91 25 16 19 0 2 58
Noonan syndrome 1 10 99 10 38 12 0 3 58
Senior-Loken syndrome 6 1 74 0 23 46 0 0 58
Stargardt Disease, Recessive 0 51 4 40 28 3 15 58
Stickler Syndrome, Recessive 0 49 0 41 18 0 0 58
Trigonocephaly 1 0 80 0 43 25 0 1 58
3-Methylglutaconic aciduria type 3 34 161 2 15 40 0 0 57
Age-related macular degeneration 9 0 65 0 15 47 2 0 57
Deficiency of alpha-mannosidase 208 28 5 21 26 0 10 57
Dilated cardiomyopathy 1O 131 69 0 28 41 0 2 57
Glycogen storage disease of heart, lethal congenital 80 81 0 29 39 0 2 57
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 259 21 1 42 25 0 1 57
Loeys-Dietz syndrome 35 264 0 28 29 0 7 57
Meckel syndrome type 6 12 67 3 18 35 0 3 57
Non-small cell lung cancer 46 36 5 49 0 11 7 57
Osteoglophonic dysplasia 6 81 0 43 25 0 0 57
Rubinstein-Taybi syndrome 1 313 37 0 41 14 0 5 57
Stickler Syndrome, Dominant 0 59 0 28 33 0 0 57
Atypical hemolytic-uremic syndrome 5 9 65 0 18 47 1 0 56
Charcot-Marie-Tooth disease, dominant intermediate B 149 83 0 40 23 0 0 56
Complement component 3 deficiency, autosomal recessive 2 65 0 11 47 1 0 56
Deafness, autosomal dominant 12 14 95 0 18 44 0 3 56
Dilated cardiomyopathy 1W 164 68 0 29 38 0 5 56
Distal spinal muscular atrophy, congenital nonprogressive 0 55 0 39 23 1 5 56
Ehlers-Danlos syndrome dermatosparaxis type 265 58 0 22 40 0 0 56
Generalized epilepsy with febrile seizures plus, type 2 11 70 0 31 24 0 5 56
Glutaric aciduria, type 1 168 29 0 31 11 0 18 56
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 122 33 0 28 35 0 4 56
Multiple Epiphyseal Dysplasia, Dominant 49 45 1 47 8 1 1 56
Wolff-Parkinson-White pattern 47 64 0 22 31 0 10 56
Alpha-1-antitrypsin deficiency 138 17 0 16 23 26 9 55
Alzheimer disease, type 3 6 98 9 27 22 0 1 55
Brainstem glioma 0 25 0 43 0 3 14 55
COLORECTAL CANCER 1027 36 0 3 22 26 5 55
Charcot-Marie-Tooth disease, demyelinating, type 4F 51 41 3 16 32 0 8 55
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 329 69 3 27 31 1 8 55
Hereditary sensory neuropathy type IE 187 48 0 32 31 0 1 55
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 109 52 1 29 34 0 5 55
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 427 15 0 19 35 0 4 55
Niemann-Pick disease, type A 119 33 0 32 16 0 12 55
Pigmentary retinal dystrophy 27 92 0 27 34 0 1 55
Progressive familial heart block type IB 147 40 0 24 37 1 5 55
Wilms tumor 1 238 63 1 35 30 2 0 55
Baller-Gerold syndrome 1409 101 1 28 27 0 3 54
Blau syndrome; Inflammatory bowel disease 1 116 27 0 26 36 4 1 54
Cone-rod dystrophy 12 1 59 0 30 47 0 2 54
Deafness, autosomal recessive 21 8 92 0 8 44 0 2 54
Dystonia 266 50 2 28 22 2 6 54
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 65 43 1 27 13 0 24 54
Homozygous familial hypercholesterolemia 0 8 0 53 0 0 18 54
Nephronophthisis 4 6 110 0 21 37 0 1 54
Optic atrophy and cataract, autosomal dominant 1 139 2 14 38 0 0 54
Retinitis Pigmentosa, Dominant 45 88 0 34 20 0 3 54
Scapuloperoneal spinal muscular atrophy 0 55 0 37 23 1 4 54
Acrocallosal syndrome 110 20 0 32 25 0 2 53
Brachydactyly type B1 6 63 0 25 39 0 0 53
Dilated cardiomyopathy 1KK 177 119 0 26 28 0 6 53
Familial dysautonomia 206 51 0 14 37 0 4 53
Idiopathic hypereosinophilic syndrome 0 83 2 25 31 0 0 53
Myasthenic syndrome, congenital, 8 419 39 0 43 13 0 1 53
Orofaciodigital syndrome type 6; Joubert syndrome 17 37 16 2 34 19 0 4 53
Partial albinism 25 54 4 23 31 0 0 53
Robinow syndrome, autosomal recessive 7 66 0 19 39 0 0 53
Alport syndrome 1, X-linked recessive 795 78 20 22 10 0 8 52
Bull's eye macular dystrophy 0 57 0 17 47 0 2 52
Deafness, autosomal dominant 3a 6 47 4 35 25 0 13 52
Diastrophic dysplasia 13 137 16 22 21 0 2 52
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 80 39 0 27 23 0 12 52
GNE myopathy 63 84 3 27 16 0 10 52
Isolated Nonsyndromic Congenital Heart Disease 36 56 0 38 22 0 2 52
Joubert syndrome 1 60 18 1 34 18 0 3 52
Juvenile neuronal ceroid lipofuscinosis 71 29 12 23 16 0 8 52
Metatrophic dysplasia 3 65 0 36 23 1 1 52
Neoplasm 52 14 0 43 0 1 14 52
Neuronal ceroid lipofuscinosis 5 60 18 9 35 14 0 5 52
Niemann-Pick disease, type B; Niemann-Pick disease, type A 32 22 0 29 28 0 6 52
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 59 37 0 32 22 0 3 52
Senior-Loken syndrome 4 1 110 0 21 35 0 2 52
Spastic paraplegia 48, autosomal recessive 311 33 0 20 36 0 1 52
Spondylometaphyseal dysplasia, Kozlowski type 1 57 0 36 23 1 1 52
Stargardt disease 4 0 57 0 27 47 0 2 52
Waardenburg syndrome 1 144 0 31 31 1 1 52
Achromatopsia 3 90 87 2 29 20 0 5 51
Brachyrachia (short spine dysplasia) 0 55 0 35 23 1 1 51
Familial hemiplegic migraine 91 51 0 32 21 0 1 51
GLUT1 deficiency syndrome 1, autosomal recessive 86 37 0 31 29 2 2 51
Glaucoma 3, primary congenital, d 5 150 1 15 34 0 2 51
Hemolytic anemia 6 83 1 18 31 1 10 51
Hereditary insensitivity to pain with anhidrosis 224 37 3 16 30 0 9 51
Myofibrillar Myopathy, Dominant 0 63 0 37 20 0 2 51
Small fiber neuropathy 2 47 0 39 25 0 4 51
Crouzon syndrome 6 74 0 40 18 1 0 50
Fanconi anemia, complementation group P 118 89 0 19 31 0 0 50
Fukuyama congenital muscular dystrophy 25 78 1 22 33 0 2 50
Gingival fibromatosis 1 2 84 0 35 26 0 0 50
Adrenocortical carcinoma 0 17 2 35 0 5 18 49
Alpha thalassemia-X-linked intellectual disability syndrome 203 24 0 27 23 0 2 49
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 127 48 1 20 37 0 1 49
Cerebrooculofacioskeletal syndrome 1 5 106 0 8 41 0 1 49
Cornelia de Lange syndrome 1 367 52 0 28 22 0 5 49
Distal hereditary motor neuronopathy type 5 1 61 0 30 24 0 6 49
Episodic ataxia, type 5 40 39 0 39 14 1 1 49
Mastocytosis 0 40 0 31 27 0 0 49
Maturity-onset diabetes of the young, type 1 24 70 2 30 20 0 3 49
Mucopolysaccharidosis, MPS-III-A 175 26 2 25 16 0 10 49
Multiple epiphyseal dysplasia type 4 32 138 9 20 21 0 3 49
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 110 54 0 22 25 0 9 49
Noonan syndrome 4 4 96 0 25 26 0 0 49
Spherocytosis type 4 15 75 1 19 31 1 7 49
Supravalvar aortic stenosis 91 82 0 34 22 0 2 49
Age-related macular degeneration 5 0 104 0 11 41 0 1 48
Aplastic anemia 32 34 8 15 27 2 10 48
Autosomal dominant distal renal tubular acidosis 6 75 0 17 31 1 7 48
Cone-rod dystrophy 41 55 2 35 23 0 8 48
FG syndrome 1 101 26 1 30 21 0 2 48
Familial hemiplegic migraine type 3 0 55 1 31 25 0 2 48
Hereditary spastic paraplegia 39 157 21 0 23 25 0 3 48
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 478 40 1 13 15 3 22 48
Osteochondrodysplasia 3 119 7 22 21 0 1 48
Primary autosomal recessive microcephaly 1 82 32 7 15 26 0 3 48
Pseudo-Hurler polydystrophy 17 82 17 15 19 0 3 48
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 6 34 11 21 27 1 8 48
Pyruvate carboxylase deficiency 142 23 5 18 22 0 7 48
Qualitative or quantitative defects of delta-sarcoglycan 67 98 0 33 15 0 0 48
Achondrogenesis, type IB 1 127 10 22 21 0 0 47
Ataxia-telangiectasia-like disorder 43 132 0 23 24 1 7 47
Atelosteogenesis type II 1 127 8 21 21 0 2 47
Autosomal recessive cerebellar ataxia 9 70 0 13 30 0 4 47
Deficiency of steroid 11-beta-monooxygenase 46 90 2 22 23 0 1 47
Dilated cardiomyopathy 1A 9 26 5 23 20 0 9 47
Dilated cardiomyopathy 1AA 28 37 0 22 32 0 1 47
Epileptic encephalopathy 1364 37 1 35 8 1 9 47
Hereditary leiomyomatosis and renal cell cancer 17 50 0 27 22 0 8 47
Hermansky-Pudlak syndrome 163 22 4 23 21 0 3 47
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 348 86 1 22 29 1 3 47
Hyperthyroidism, nonautoimmune 8 47 0 13 36 0 6 47
Hypothyroidism, congenital, nongoitrous, 1 15 44 0 9 36 0 6 47
Inherited Erythromelalgia 0 39 0 31 25 0 4 47
Maturity-onset diabetes of the young, type 2 100 54 4 27 12 0 11 47
Megaloblastic anemia due to inborn errors of metabolism 175 61 0 24 18 2 5 47
Naxos disease 5 63 1 7 39 0 0 47
Pseudoxanthoma elasticum 306 31 1 17 1 0 35 47
Alport syndrome, autosomal recessive 181 39 0 24 3 0 22 46
Arrhythmogenic right ventricular cardiomyopathy, type 12 0 61 1 13 38 0 0 46
Autism spectrum disorder 232 61 1 29 11 6 4 46
Choreoacanthocytosis 167 32 0 19 30 0 0 46
Deoxygalactonojirimycin response 0 0 0 0 0 46 0 46
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 220 124 4 22 14 1 16 46
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 86 50 1 23 21 1 8 46
Hypobetalipoproteinemia 3 60 0 24 28 1 9 46
Membranoproliferative glomerulonephritis with complement factor h deficiency 51 57 0 22 22 2 2 46
Mucopolysaccharidosis type 1 102 41 1 24 25 4 2 46
Multiple endocrine neoplasia, type 2b 5 43 5 28 21 1 4 46
Retinitis pigmentosa 25 48 34 0 31 16 0 9 46
Short Rib Polydactyly Syndrome 7 60 0 21 24 0 3 46
Usher syndrome, type 1C 24 27 3 17 31 0 3 46
Early infantile epileptic encephalopathy 10 24 17 0 20 29 0 3 45
Episodic ataxia type 1 87 69 2 33 11 0 0 45
Familial dilated cardiomyopathy 39 38 0 15 20 0 14 45
Hereditary hemorrhagic telangiectasia 134 43 0 25 26 0 4 45
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 60 47 0 25 28 0 2 45
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 146 22 0 27 32 0 3 45
Myotonia congenita 40 26 14 22 15 0 8 45
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 112 73 0 23 32 0 3 45
Nephrotic syndrome, type 4 8 72 0 24 24 0 0 45
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 201 55 0 18 24 0 4 45
Stargardt disease 31 21 0 37 0 5 18 45
Weaver syndrome 67 103 0 33 12 0 2 45
Anophthalmia-microphthalmia syndrome 40 76 0 15 29 0 0 44
Bare lymphocyte syndrome 2 454 57 0 13 29 0 2 44
Beare-Stevenson cutis gyrata syndrome 1 57 0 35 18 0 0 44
CDH23-Related Disorders 0 55 0 1 43 0 1 44
Charcot-Marie-Tooth disease, demyelinating, type 1b 9 26 2 18 9 1 28 44
Cone-rod dystrophy 2 3 91 1 37 22 0 0 44
Cowden syndrome 1 35 60 2 29 12 0 7 44
Creatine transporter deficiency 86 30 3 34 9 0 1 44
Deafness, autosomal recessive 30 75 29 0 9 34 0 1 44
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 5 77 0 30 22 0 0 44
Epiphyseal dysplasia, multiple, 2 26 25 0 27 19 0 0 44
Familial cancer of breast; Ataxia-telangiectasia syndrome 2 61 0 18 26 1 1 44
Leber congenital amaurosis 86 100 4 27 8 2 10 44
Meacham syndrome 1 68 0 31 24 0 0 44
Neuropathy, hereditary sensory and autonomic, type VI 52 15 0 17 29 0 0 44
Tyrosinemia type I 102 20 7 22 17 1 6 44
Carcinoma of colon 84 25 7 22 9 3 11 43
Cardiomyopathy, dilated, 1u 0 77 0 21 22 0 1 43
Carnitine palmitoyltransferase II deficiency 133 32 0 22 17 1 6 43
Ciliary dyskinesia, primary, 15 52 53 1 12 29 0 1 43
Congenital nephrotic syndrome 81 14 0 10 34 0 0 43
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 89 30 0 27 18 0 4 43
Epileptic encephalopathy, childhood-onset 197 66 0 25 15 0 4 43
Familial hemiplegic migraine type 2 10 84 0 26 20 0 3 43
Leber congenital amaurosis 4 29 57 3 24 25 0 2 43
Leber congenital amaurosis 7 3 90 1 21 22 0 0 43
Leber's optic atrophy 4 4 20 4 5 1 22 43
Left ventricular noncompaction 8 188 64 0 26 16 0 1 43
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 266 31 0 19 34 0 2 43
Obesity 60 32 2 17 20 5 8 43
Pallister-Hall syndrome 24 134 6 30 11 0 1 43
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 175 25 0 20 28 0 0 43
Pyridoxine-dependent epilepsy 208 46 0 17 21 0 7 43
Retinitis pigmentosa 12; Leber congenital amaurosis 8 78 22 2 24 22 1 10 43
Saethre-Chotzen syndrome 14 58 0 34 18 0 0 43
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 19 3 0 7 7 35 13 42
Ataxia-telangiectasia-like disorder 1 109 88 0 21 22 2 7 42
Brugada syndrome 5 49 48 0 27 17 0 2 42
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 126 54 0 25 15 0 4 42
Cerebral cavernous malformation 58 81 0 31 12 1 3 42
Coenzyme Q10 deficiency, primary, 4 38 41 0 21 19 0 5 42
Cutaneous malignant melanoma 5 170 18 0 22 18 6 10 42
Dilated cardiomyopathy 1X 1 68 1 11 31 0 0 42
Elliptocytosis 0 113 0 37 6 0 0 42
Familial hypertrophic cardiomyopathy 6 4 44 0 18 25 0 3 42
Histiocytic medullary reticulosis 88 151 0 18 20 0 6 42
Holocarboxylase synthetase deficiency 175 24 0 27 18 0 4 42
Isolated coronal synostosis 0 57 0 24 18 0 0 42
Joubert syndrome 3 96 26 1 24 17 0 5 42
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 184 62 0 28 14 0 6 42
Sphingolipid activator protein 1 deficiency 46 34 0 15 34 0 0 42
TP63-Related Spectrum Disorders 22 72 1 26 18 0 1 42
ANO5-Related Muscle Diseases 32 62 0 15 29 0 0 41
Achromatopsia 35 82 1 22 10 0 12 41
Argininosuccinate lyase deficiency 129 19 2 23 10 0 8 41
Autosomal recessive limb-girdle muscular dystrophy type 2D 83 31 0 17 19 0 9 41
Brugada syndrome 8 188 91 0 22 24 0 4 41
Ceroid lipofuscinosis neuronal 2 83 27 2 27 8 0 5 41
Congenital myopathy with fiber type disproportion 10 127 12 16 16 0 4 41
Epilepsy 146 30 1 27 13 1 6 41
Fanconi anemia, complementation group I 62 52 0 19 25 0 0 41
Hereditary nonpolyposis colorectal cancer type 7 81 21 0 24 17 0 3 41
Hypohidrotic ectodermal dysplasia 63 58 1 23 16 1 1 41
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 18 140 2 23 18 0 0 41
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 75 24 0 21 28 0 1 41
Multiple acyl-CoA dehydrogenase deficiency 150 32 0 19 20 0 6 41
Nephronophthisis 12 2 81 0 21 24 0 0 41
Occult macular dystrophy 376 15 1 12 26 1 4 41
Adrenoleukodystrophy 247 47 0 24 14 0 6 40
Alagille syndrome 1 98 40 0 26 19 0 5 40
Alternating hemiplegia of childhood 1 1 83 0 25 20 0 2 40
Arterial tortuosity syndrome 135 46 0 19 25 0 6 40
Arteriohepatic dysplasia 2 50 0 27 15 0 1 40
Asphyxiating thoracic dystrophy 4 2 82 0 21 24 0 0 40
Cardiac arrhythmia 44 20 1 25 17 2 12 40
Dilated cardiomyopathy 1S 30 58 0 11 25 0 11 40
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 33 0 27 21 1 0 40
Hereditary spastic paraplegia 7 130 33 0 23 14 0 9 40
Imerslund-Gräsbeck syndrome 1 224 72 0 20 21 0 0 40
Lissencephaly, Recessive 18 47 0 11 30 0 0 40
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 122 22 0 20 23 0 2 40
Mucopolysaccharidosis, MPS-III-B 99 17 0 17 16 0 9 40
Rubinstein-Taybi syndrome 2; Colorectal cancer 36 12 0 33 7 0 3 40
Treacher Collins Syndrome, Dominant 62 3 0 37 4 0 0 40
Treacher Collins syndrome 1 85 13 0 36 6 0 0 40
Arrhythmogenic right ventricular cardiomyopathy, type 5 75 49 1 17 26 0 2 39
Bronchiectasis with or without elevated sweat chloride 1 5 25 0 13 31 0 3 39
Deficiency of butyryl-CoA dehydrogenase 109 14 0 14 7 0 23 39
Dilated cardiomyopathy 1HH 10 29 0 7 30 0 3 39
Familial hypokalemia-hypomagnesemia 158 35 1 16 17 1 8 39
Familial platelet disorder with associated myeloid malignancy 362 52 0 25 9 0 7 39
Hypertrichotic osteochondrodysplasia Cantu type 7 30 0 16 27 0 0 39
Loeys-Dietz syndrome 2 73 70 0 24 22 0 2 39
Myhre syndrome 1 176 0 26 18 0 0 39
Myopathy, centronuclear, 1 3 63 0 29 15 0 0 39
Neuronal ceroid lipofuscinosis 1 174 15 15 22 6 0 5 39
Nonsyndromic hearing loss and deafness 10 9 5 19 16 0 19 39
Polydactyly 0 168 0 31 11 0 2 39
Retinitis pigmentosa-deafness syndrome 26 49 0 14 26 0 1 39
Severe combined immunodeficiency due to ADA deficiency 114 17 0 24 9 0 10 39
Atypical hemolytic-uremic syndrome 1 25 46 0 17 20 4 1 38
Bardet-Biedl syndrome 10 113 18 0 19 13 0 6 38
Brugada syndrome 4 76 17 0 22 24 0 2 38
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 96 29 0 13 24 0 2 38
Dyskeratosis congenita, autosomal dominant, 2