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
376208 84160 2178 28336 20066 978 5946 50889
Total conditions with conflicts: 6143
Download table as spreadsheet
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 specified 46232 21090 298 18210 14173 256 1365 29741
not provided 82838 27454 868 10288 10021 370 3332 21949
Hereditary cancer-predisposing syndrome 17182 19739 259 3849 4367 78 680 7732
Cardiovascular phenotype 2373 2460 7 2346 1509 10 306 3570
Hereditary breast and ovarian cancer syndrome 1621 3523 46 947 1260 11 159 1846
History of neurodevelopmental disorder 1934 931 4 1198 725 3 45 1709
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2528 1246 1 684 1001 0 37 1462
Cardiomyopathy 818 758 4 888 652 3 114 1375
Hypertrophic cardiomyopathy 812 1304 2 658 614 2 192 1372
Breast-ovarian cancer, familial 2 1393 3409 42 637 830 3 101 1235
Dilated Cardiomyopathy, Dominant 226 1240 2 466 618 1 11 1062
Familial hypercholesterolemia 1475 614 0 698 252 2 324 1027
Hereditary nonpolyposis colon cancer 1381 2212 61 385 553 1 73 888
Breast-ovarian cancer, familial 1 1385 2557 30 461 496 5 129 845
Lynch syndrome 2026 1185 116 393 370 1 107 813
Limb-Girdle Muscular Dystrophy, Recessive 88 788 1 304 444 0 8 741
Long QT syndrome 1096 900 2 373 291 3 93 659
Distal myopathy Markesbery-Griggs type 8 387 4 247 367 0 7 615
Myopathy, early-onset, with fatal cardiomyopathy 2 377 4 245 362 0 9 611
Seizures 430 347 7 441 245 3 42 611
Hereditary myopathy with early respiratory failure 6 377 2 246 363 0 9 610
Familial cancer of breast 1471 2027 23 336 293 20 50 583
Nonsyndromic Hearing Loss, Recessive 629 643 0 258 309 0 7 566
Ataxia-telangiectasia syndrome 1418 1598 0 287 283 2 31 552
Inborn genetic diseases 1706 540 44 280 53 16 200 533
Ciliary dyskinesia 2501 390 10 275 251 0 18 510
Thoracic aortic aneurysm and aortic dissection 598 763 0 303 229 3 41 508
Fanconi anemia 1373 423 14 334 227 1 10 474
Tuberous sclerosis 2 1180 476 8 293 231 1 8 456
Emery-Dreifuss muscular dystrophy 282 237 0 243 152 0 4 378
Nonsyndromic Hearing Loss, Dominant 195 693 1 277 102 0 12 371
Bethlem myopathy 1 325 240 0 194 172 0 28 367
Arrhythmogenic right ventricular cardiomyopathy 235 347 1 204 173 2 12 364
Early infantile epileptic encephalopathy 886 222 0 215 142 0 42 346
Familial hypercholesterolemias 441 142 0 230 156 1 84 345
Brugada syndrome 899 567 2 190 142 3 56 343
Familial adenomatous polyposis 1 1174 1113 32 156 189 11 18 342
Charcot-Marie-Tooth disease, type 2 561 517 5 187 130 2 37 334
Neoplasm of the breast 66 371 14 157 107 11 90 322
Primary familial hypertrophic cardiomyopathy 286 219 2 163 82 2 99 307
Rasopathy 284 211 24 206 100 1 17 299
Collagen VI-related myopathy 97 129 0 164 127 0 9 280
Marfan syndrome 761 347 4 176 63 0 54 271
Joubert syndrome 385 330 4 143 123 1 13 270
Retinitis pigmentosa-deafness syndrome 52 397 1 125 143 0 5 270
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 385 200 0 128 149 0 0 260
Catecholaminergic polymorphic ventricular tachycardia 530 342 1 165 111 0 14 258
Nemaline myopathy 2 748 132 1 142 125 0 10 244
Connective tissue disorder 176 96 0 137 132 0 8 238
Cystic fibrosis 784 406 4 141 60 36 71 237
Primary dilated cardiomyopathy 448 208 4 121 66 0 71 235
Retinitis Pigmentosa, Recessive 797 725 4 134 99 3 21 235
Li-Fraumeni syndrome 248 218 5 87 61 5 100 233
Neurofibromatosis, type 1 1567 870 6 122 89 0 34 233
Cerebellar ataxia 2 171 0 140 102 0 2 230
RYR1-Related Disorders 371 157 6 117 96 17 29 225
Congenital disorder of glycosylation 867 105 0 84 128 0 1 212
Neoplasm of the large intestine 21 188 8 148 0 11 68 211
Breast and/or ovarian cancer 24 144 17 118 140 4 29 209
Malignant hyperthermia susceptibility 0 278 1 134 88 5 4 205
Lung adenocarcinoma 12 186 3 128 0 16 78 200
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 365 183 1 124 59 0 33 194
Charcot-Marie-Tooth disease type 4 857 535 8 92 100 0 5 186
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 151 133 0 115 78 0 3 182
Bardet-Biedl syndrome 446 302 5 106 75 1 11 181
Duchenne muscular dystrophy 613 293 0 105 104 0 6 180
Colorectal cancer, susceptibility to, 12 1268 609 0 91 92 2 7 179
Myopathy, Central Core 31 220 16 100 68 13 19 179
Hereditary diffuse gastric cancer 376 453 3 95 100 0 8 178
Lynch syndrome I 78 172 34 93 92 0 27 177
Adenocarcinoma of stomach 0 186 2 112 1 8 69 175
Tuberous sclerosis syndrome 1472 726 15 119 80 0 0 175
Ehlers-Danlos syndrome, classic type 334 186 1 117 66 0 9 174
Progressive sclerosing poliodystrophy 265 109 7 93 82 0 38 170
Spastic paraplegia 370 127 1 117 68 0 8 169
Spastic Paraplegia, Recessive 275 112 0 65 105 0 1 167
Primary Microcephaly, Recessive 200 166 0 73 92 0 3 165
Squamous cell carcinoma of the head and neck 10 173 0 94 0 5 71 158
Intellectual Disability, Dominant 63 104 0 55 102 0 0 154
Leigh syndrome 121 334 3 92 53 0 9 153
Romano-Ward syndrome 0 475 1 81 75 2 6 153
Hepatocellular carcinoma 11 110 5 91 2 9 66 149
Cohen syndrome 435 64 16 91 55 0 9 148
Glycogen storage disease, type II 312 107 5 81 56 4 18 148
Tuberous sclerosis 1 490 173 4 86 87 0 3 148
Malignant melanoma of skin 2 132 3 110 0 13 39 146
Nemaline Myopathy, Recessive 127 29 0 63 84 0 0 146
Ovarian Neoplasms 158 133 9 101 0 8 55 145
Neuronal ceroid lipofuscinosis 186 123 8 96 63 0 10 144
Hereditary nonpolyposis colorectal cancer type 5 26 165 19 64 93 0 5 143
Nephronophthisis 205 289 1 71 80 2 4 143
Ehlers-Danlos syndrome, type 7A 135 92 0 92 53 0 2 142
Transitional cell carcinoma of the bladder 1 133 3 99 0 7 49 142
Familial cancer of breast; Fanconi anemia, complementation group J 365 520 0 67 70 0 15 141
Pancreatic adenocarcinoma 135 116 1 77 3 8 67 141
Arrhythmia 94 99 0 95 62 2 15 138
Neuromuscular disease, congenital, with uniform type 1 fiber 0 184 1 84 68 1 4 137
Colorectal cancer 10 681 393 0 70 73 3 0 136
Malignant neoplasm of body of uterus 0 151 4 96 0 12 45 136
Multiminicore Disease 1 183 1 84 67 0 4 135
Pheochromocytoma 214 248 3 93 38 7 10 134
Meckel-Gruber syndrome 39 294 3 54 78 1 5 133
Microcephaly, normal intelligence and immunodeficiency 331 349 1 58 84 2 5 133
Neoplasm of brain 2 103 0 80 0 8 58 132
Squamous cell lung carcinoma 8 132 0 71 0 5 66 132
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 220 128 0 79 67 0 4 131
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 205 55 0 93 39 0 1 131
Noonan syndrome 113 326 6 88 41 0 4 130
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 102 57 0 90 84 0 8 129
Aortic aneurysm, familial thoracic 4 151 96 0 76 69 1 7 128
Gorlin syndrome 744 197 6 64 64 0 12 128
Spinocerebellar Ataxia, Dominant 395 66 0 79 51 0 1 127
Left ventricular noncompaction cardiomyopathy 65 203 0 72 62 0 4 126
Congenital contractural arachnodactyly 273 99 0 86 54 0 4 124
Jeune thoracic dystrophy 168 254 1 67 36 0 28 124
MYH-associated polyposis 194 312 15 54 65 0 15 123
Carcinoma of esophagus 0 106 1 65 1 5 63 122
Ovarian Serous Cystadenocarcinoma 0 104 0 59 0 4 70 121
Peutz-Jeghers syndrome 284 261 0 61 70 0 7 121
Renal cell carcinoma, papillary, 1 398 161 11 68 37 3 26 121
Autosomal recessive polycystic kidney disease 434 123 1 78 29 1 18 120
Glioblastoma 5 107 0 77 0 5 46 117
Macular degeneration 264 431 4 64 51 7 18 116
Phenylketonuria 144 189 8 77 4 0 31 114
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 149 74 0 78 43 0 5 113
Limb-girdle muscular dystrophy, type 2A 116 95 4 68 26 0 21 113
Mitochondrial complex I deficiency 230 167 0 45 62 0 8 110
Multiple endocrine neoplasia, type 2 321 192 9 57 54 4 12 110
Rhabdoid tumor predisposition syndrome 2 627 429 0 55 58 0 0 109
Wilson disease 298 66 3 78 27 0 21 109
Familial hypobetalipoproteinemia 21 115 0 56 70 0 5 107
Lissencephaly, Recessive 89 56 0 55 51 0 3 107
Hypokalemic periodic paralysis 0 185 0 81 34 0 0 106
PTEN hamartoma tumor syndrome 299 183 1 63 24 1 28 106
Holoprosencephaly sequence 282 121 2 79 29 0 4 105
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 161 67 0 77 47 0 2 105
Stickler Syndrome, Dominant 0 187 0 62 43 1 0 105
Familial hypertrophic cardiomyopathy 1 68 43 0 60 22 0 42 104
Juvenile polyposis syndrome 353 294 8 44 52 0 9 103
Retinitis pigmentosa 241 72 6 51 6 0 54 102
Dysferlinopathy 102 86 0 58 53 0 8 101
Familial hypertrophic cardiomyopathy 14 141 91 0 57 56 0 2 99
Leber congenital amaurosis 212 441 4 53 39 1 12 99
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 190 43 3 54 2 3 47 97
Usher syndrome, type 2A; Retinitis pigmentosa 39 259 138 1 51 27 0 28 97
Adenocarcinoma of prostate 9 81 4 71 0 7 28 96
Monogenic diabetes 120 59 1 58 40 4 10 96
Adams-Oliver syndrome 5 277 170 0 57 37 0 3 95
Acute myeloid leukemia 219 65 1 70 2 5 27 94
Biotinidase deficiency 171 26 5 46 7 1 50 94
Charcot-Marie-Tooth disease, axonal, type 2O 210 64 0 60 54 0 2 94
Laminin alpha 2-related dystrophy 176 76 2 57 46 0 5 94
Lynch syndrome II 21 101 14 49 57 0 11 94
Multiple myeloma 1 47 2 71 0 5 23 93
Uterine Carcinosarcoma 0 82 0 54 0 3 43 92
Bloom syndrome 493 120 12 50 43 0 4 91
See cases 24151 357 13 14 42 0 30 91
Congenital Myasthenic Syndrome, Recessive 160 122 0 61 37 0 0 90
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 159 58 0 42 48 0 1 90
Gastrointestinal stroma tumor 1102 139 11 47 32 7 7 90
Nonsyndromic hearing loss and deafness 150 60 17 57 4 5 20 90
Arrhythmogenic right ventricular cardiomyopathy, type 9 115 90 1 57 39 0 2 88
Familial hypertrophic cardiomyopathy 4 26 49 0 67 8 0 23 88
Cone-Rod Dystrophy, Recessive 131 192 4 50 37 3 16 87
Maple syrup urine disease 308 73 4 54 17 0 17 85
Niemann-Pick disease type C1 138 44 6 62 15 0 15 85
Elliptocytosis 0 239 0 77 13 0 2 84
Hermansky-Pudlak syndrome 359 46 2 43 39 0 1 84
Peroxisome biogenesis disorder 1A (Zellweger) 510 119 0 41 41 0 3 84
Spastic paraplegia 11, autosomal recessive 352 39 30 38 26 0 4 84
Hereditary nonpolyposis colorectal cancer type 4 13 73 26 46 40 0 5 83
Hereditary sensory and autonomic neuropathy type II 21 205 0 41 45 0 0 83
Joubert syndrome; Meckel-Gruber syndrome 80 42 0 56 40 1 7 83
Pendred syndrome 127 156 5 58 15 0 10 83
Atrial septal defect 2 117 0 38 45 0 0 82
Fabry disease 91 50 0 25 15 47 13 82
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 131 51 0 46 49 0 6 82
Metachromatic leukodystrophy 138 84 13 44 23 2 13 82
Spastic paraplegia, autosomal dominant 363 20 0 65 22 1 1 82
Permanent neonatal diabetes mellitus 49 75 30 35 17 1 1 81
Ehlers-Danlos syndrome, type 4 532 104 0 48 35 0 4 80
Stargardt disease 1 82 81 1 50 9 6 30 80
Alstrom syndrome 814 150 0 45 38 0 4 79
Non-ketotic hyperglycinemia 330 34 21 46 16 0 14 79
Severe myoclonic epilepsy in infancy 323 256 0 48 29 0 15 79
Cutaneous melanoma 76 16 1 71 0 6 9 78
Very long chain acyl-CoA dehydrogenase deficiency 219 46 5 38 17 0 27 78
CHARGE association 244 152 0 54 33 0 2 77
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 126 65 0 45 38 0 3 77
Epidermolysis bullosa, lethal acantholytic 1 67 0 46 40 0 1 76
Hereditary cutaneous melanoma 180 154 3 32 39 9 12 76
Myosclerosis 0 59 0 42 36 0 3 76
Autosomal dominant nocturnal frontal lobe epilepsy 135 61 1 42 41 0 2 75
Ectodermal dysplasia skin fragility syndrome 103 67 0 46 40 0 0 75
Hereditary pancreatitis 107 47 8 39 13 18 23 75
Maturity onset diabetes mellitus in young 200 154 0 58 19 4 5 75
Multiple Epiphyseal Dysplasia, Dominant 64 117 1 66 8 2 0 75
Seckel syndrome 42 145 0 40 35 0 1 75
Skin fragility woolly hair syndrome 4 66 0 45 40 0 1 75
Galactosylceramide beta-galactosidase deficiency 158 79 0 42 26 0 9 74
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 240 59 0 37 39 0 16 74
Kabuki syndrome 173 43 0 50 31 0 3 73
Microcephalic Osteodysplastic Primordial Dwarfism 79 47 0 41 32 0 0 73
Multiple endocrine neoplasia, type 2a 37 110 9 38 35 4 9 73
Renal dysplasia and retinal aplasia 25 171 0 30 42 0 2 73
Spherocytosis, Dominant 98 149 1 67 5 0 1 72
Arrhythmogenic right ventricular cardiomyopathy, type 10 74 47 0 36 34 1 14 71
Early infantile epileptic encephalopathy 12 103 49 0 43 44 0 3 71
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 533 91 0 40 33 0 2 70
Neuroblastoma 3 585 74 6 50 16 4 2 70
Hyperkalemic Periodic Paralysis Type 1 105 59 6 47 18 0 6 69
APC-Associated Polyposis Disorders 35 14 1 40 24 14 2 68
Breast-ovarian cancer, familial 4 105 187 0 28 37 2 5 68
Generalized epilepsy with febrile seizures plus 0 158 0 45 31 0 7 68
Li-Fraumeni syndrome 1 17 46 1 33 25 3 16 68
Glycogen storage disease type III 301 44 9 45 16 0 5 67
Neoplasm of ovary 35 38 5 49 20 1 7 67
Retinitis Pigmentosa, Dominant 432 304 3 50 15 0 6 67
Amyotrophic Lateral Sclerosis, Dominant 110 292 0 56 12 0 2 66
Aortic aneurysm, familial thoracic 7 159 85 0 35 38 0 1 66
Dilated cardiomyopathy 1DD 133 67 1 31 39 0 7 66
Fibrochondrogenesis 4 150 0 39 27 1 0 66
Kabuki syndrome 1 262 39 0 35 25 0 9 66
Pitt-Hopkins-like syndrome 1 84 188 0 44 39 1 2 66
Short Rib Polydactyly Syndrome 48 217 0 39 26 0 3 66
Familial hemiplegic migraine 49 132 0 48 22 0 2 65
Finnish congenital nephrotic syndrome 202 9 22 38 11 0 3 65
Primary autosomal recessive microcephaly 5 141 53 25 19 24 0 1 65
Retinal dystrophy 194 116 3 42 2 3 24 65
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 132 50 1 40 35 0 3 65
Timothy syndrome 5 161 2 38 30 0 3 64
Uterine cervical neoplasms 0 68 2 50 0 2 16 64
Deafness, autosomal recessive 1A 54 48 13 44 9 0 13 63
Intellectual Disability, Recessive 140 26 0 29 34 0 0 63
Fanconi anemia, complementation group O 155 207 0 25 25 4 10 62
Multiple endocrine neoplasia, type 1 344 131 3 41 17 0 7 62
Pontoneocerebellar hypoplasia 160 30 0 32 28 0 3 62
Retinoblastoma 393 59 1 38 27 0 2 62
Combined oxidative phosphorylation deficiency 254 23 0 22 36 0 3 61
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 107 59 0 45 25 0 2 61
Spastic ataxia Charlevoix-Saguenay type 347 40 3 35 22 0 5 61
Usher syndrome, type 1 64 26 6 34 0 0 24 61
Weill-Marchesani syndrome 51 193 1 42 25 0 2 61
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 794 285 0 30 32 0 0 60
Disorders of Intracellular Cobalamin Metabolism 260 39 0 25 34 2 2 60
Fanconi anemia, complementation group J 18 61 0 38 26 0 4 60
Hereditary Paraganglioma-Pheochromocytoma Syndromes 187 80 8 32 7 2 19 60
Homocystinuria due to CBS deficiency 109 50 0 36 16 0 11 60
Epilepsy, focal, with speech disorder and with or without mental retardation 246 42 0 34 24 0 5 59
Familial atrial fibrillation 38 165 1 36 25 0 1 59
Geleophysic dysplasia 54 112 0 40 28 0 1 59
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 119 47 3 42 15 1 0 59
Medulloblastoma 61 40 2 39 9 7 9 59
Primary hyperoxaluria, type I 181 16 0 35 23 0 4 59
Spherocytosis, Recessive 25 146 0 50 14 0 3 59
Hypogonadism with anosmia 8 158 0 40 20 0 3 58
Malignant hyperthermia, susceptibility to, 1 36 33 2 14 24 20 8 58
Medium-chain acyl-coenzyme A dehydrogenase deficiency 125 25 0 36 4 1 23 58
Myopathy, distal, 1 6 59 1 37 23 0 4 58
Oligodontia-colorectal cancer syndrome 564 144 0 26 32 0 1 58
Propionyl-CoA carboxylase deficiency 180 24 11 34 15 0 7 58
Acromicric dysplasia 2 111 0 40 26 0 1 57
Myofibrillar Myopathy, Dominant 0 126 0 34 27 0 2 57
Neuroblastoma 19 184 4 40 8 6 5 57
Rolandic epilepsy 50 5 0 1 0 0 57 57
Small cell lung cancer 2 41 0 32 0 1 29 57
Cardio-facio-cutaneous syndrome 6 124 1 43 10 0 4 56
Ectopia lentis 68 111 0 39 26 0 1 56
Koolen-de Vries syndrome 79 18 5 22 31 0 2 56
Myofibrillar myopathy, ZASP-related 71 51 0 28 26 0 7 56
Non-small cell lung cancer 45 37 5 49 0 10 5 56
Progressive familial heart block 22 76 1 26 31 1 1 56
Stiff skin syndrome 4 108 0 39 25 0 1 56
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 90 33 0 38 23 0 5 55
Hypercholesterolemia, autosomal dominant, 3 21 23 0 40 23 2 19 55
MASS syndrome 2 108 0 38 25 0 1 55
Osler hemorrhagic telangiectasia syndrome 220 187 0 38 19 0 4 55
Progressive myoclonic epilepsy 257 50 0 34 28 0 4 55
Rett syndrome 378 107 2 29 10 1 22 55
Chromosome 9q deletion syndrome 153 40 4 33 21 0 0 54
Deafness, autosomal recessive 2; Usher syndrome, type 1 120 69 0 29 10 0 17 54
Dystonia 173 86 1 36 21 1 1 54
Ellis-van Creveld Syndrome 38 160 0 23 31 0 2 54
Miyoshi myopathy 0 146 0 20 34 0 2 54
Squamous cell carcinoma of the skin 0 53 0 29 0 2 30 54
von Willebrand disorder 62 19 0 48 5 1 3 54
Dilated cardiomyopathy 3B 55 40 0 32 24 0 0 53
Loeys-Dietz syndrome 102 310 0 31 24 0 6 53
Stargardt Disease, Recessive 0 110 4 34 19 3 13 53
WFS1-Related Spectrum Disorders 2 65 1 46 10 0 4 53
Distal spinal muscular atrophy 59 48 0 21 29 0 2 52
Donnai Barrow syndrome 178 27 8 35 11 0 0 52
Focal cortical dysplasia type II 3 147 5 35 26 0 3 52
Merosin deficient congenital muscular dystrophy 140 50 4 34 10 0 7 52
Noonan syndrome with multiple lentigines 1 74 8 30 20 0 1 52
Parkinson disease 8, autosomal dominant 179 5 18 12 29 1 3 52
Severe neonatal-onset encephalopathy with microcephaly 45 44 2 38 18 0 8 52
Tumor susceptibility linked to germline BAP1 mutations 170 158 0 24 28 0 3 52
Von Hippel-Lindau syndrome 254 103 0 32 10 0 15 52
Dilated cardiomyopathy 1JJ 64 67 0 33 20 0 0 51
Dilated cardiomyopathy 1W 73 46 0 29 26 0 5 51
Myosin storage myopathy 1 47 0 33 23 0 2 51
Pitt-Hopkins-like syndrome 103 130 0 18 33 0 0 51
Smith-Lemli-Opitz syndrome 112 31 12 31 11 0 11 51
Tay-Sachs disease 154 27 0 28 10 2 11 51
Beckwith-Wiedemann syndrome 314 43 0 33 20 0 1 50
Chédiak-Higashi syndrome 242 27 10 25 22 0 1 50
Hereditary pyropoikilocytosis 5 151 0 45 10 0 2 50
Limb-girdle muscular dystrophy, type 2B 104 93 0 33 8 1 14 50
Mitochondrial complex II deficiency; Paragangliomas 5 367 127 0 23 15 0 12 50
Renal carnitine transport defect 172 60 0 37 6 0 11 50
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 91 46 0 24 28 0 5 50
Usher syndrome, type 2A 65 44 3 39 3 1 12 50
Bardet-Biedl syndrome 1 47 28 0 42 9 0 3 49
Chondroectodermal dysplasia; Curry-Hall syndrome 15 19 0 34 22 0 3 49
Chronic lymphocytic leukemia 3 52 0 34 0 1 20 49
Neoplasm 55 14 0 41 0 0 10 49
Paramyotonia congenita of von Eulenburg 5 93 0 41 16 0 0 49
Potassium aggravated myotonia 1 91 0 41 16 0 0 49
Scapuloperoneal myopathy 0 43 0 32 23 0 1 49
Alport syndrome 171 23 0 29 17 0 2 48
Coffin-Siris syndrome 15 41 0 32 17 0 0 48
Familial dysautonomia 175 28 0 24 26 0 1 48
Hyperinsulinism, Dominant/Recessive 0 100 0 32 17 1 0 48
Hyperkalemic Periodic Paralysis 0 86 0 40 16 0 0 48
Inherited Erythromelalgia 0 110 0 32 21 0 7 48
Osteogenesis imperfecta type I 220 74 2 30 21 0 5 48
Paroxysmal extreme pain disorder 6 112 0 32 21 0 6 48
Schwartz Jampel syndrome type 1 13 222 0 11 36 0 1 48
Arrhythmogenic right ventricular cardiomyopathy, type 11 80 49 0 27 28 0 2 47
Congenital Indifference to Pain 0 110 0 31 21 0 6 47
Congenital Muscular Dystrophy, LAMA2-related 57 24 0 17 30 0 0 47
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 54 30 8 26 11 0 10 47
Dyskeratosis congenita 123 23 1 35 11 0 4 47
Dyssegmental Dysplasia 0 220 0 11 35 0 1 47
Familial Mediterranean fever 166 59 2 26 21 0 11 47
Fumarase deficiency 171 98 6 20 11 0 18 47
Charcot-Marie-Tooth disease, type I 217 77 4 24 15 0 6 46
Citrullinemia type I 94 49 0 32 8 0 10 46
Deoxygalactonojirimycin response 0 0 0 0 0 46 0 46
Familial Febrile Seizures 0 110 0 30 21 0 6 46
Long QT syndrome 1 34 48 0 32 1 1 16 46
Small fiber neuropathy 2 110 0 30 21 0 6 46
Transient Neonatal Diabetes, Dominant 0 80 0 31 16 1 0 46
Walker-Warburg congenital muscular dystrophy 94 58 0 23 25 0 5 46
Cholestanol storage disease 85 11 24 21 7 0 8 45
Deafness, autosomal recessive 9 84 10 12 20 4 5 10 45
Dilated cardiomyopathy 1KK 94 78 0 24 21 0 6 45
Dyskeratosis Congenita, Recessive 131 36 0 30 16 1 3 45
Familial restrictive cardiomyopathy 1 108 0 35 11 1 0 45
Multiple endocrine neoplasia 39 94 4 26 22 2 4 45
Non-syndromic X-linked intellectual disability 298 19 0 34 13 2 0 45
beta Thalassemia 33 57 6 27 4 12 6 45
Congenital Myasthenic Syndrome, Dominant/Recessive 72 65 0 20 24 0 0 44
Cutis laxa, recessive 130 23 0 18 26 0 0 44
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 106 8 0 17 27 0 0 44
Familial colorectal cancer 1028 38 0 3 16 23 3 44
Osteogenesis Imperfecta, Dominant 0 107 0 23 20 0 1 44
Pitt-Hopkins-like syndrome 2 90 31 0 33 32 0 0 44
Adrenocortical carcinoma 0 23 2 32 0 5 15 43
Alpha-1-antitrypsin deficiency 107 10 0 18 10 26 8 43
Arthrogryposis multiplex congenita 2 117 0 33 10 0 0 43
Brainstem glioma 1 36 0 33 0 1 10 43
Cone-Rod Dystrophy, Dominant 205 259 2 34 8 0 3 43
Juvenile Polyposis 23 154 1 30 17 0 0 43
Mowat-Wilson syndrome 216 38 0 26 21 0 1 43
Myasthenic syndrome, congenital, 8 196 27 0 38 8 0 0 43
Ataxia-telangiectasia-like disorder 1 102 121 0 24 19 0 6 42
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 168 10 0 19 25 0 1 42
Nonsyndromic Hearing Loss, Mixed 109 90 0 24 18 0 2 42
Rubinstein-Taybi syndrome 1 235 37 0 27 13 0 3 42
Xeroderma pigmentosum 381 59 0 32 8 2 1 42
Cardiac arrhythmia 42 17 1 25 16 2 13 41
Cowden syndrome 1 34 49 1 26 13 0 5 41
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 89 76 0 26 26 0 2 41
I cell disease 70 63 25 17 2 0 1 41
Multiple endocrine neoplasia, type 2b 5 48 5 24 15 1 5 41
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 61 39 1 22 18 0 3 41
Myotonia congenita 28 10 13 22 8 0 7 41
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 54 10 0 15 25 0 1 41
Neuronal Ceroid-Lipofuscinosis, Recessive 229 15 1 13 28 0 1 41
Werner syndrome 588 51 3 21 21 0 0 41
Alternating hemiplegia of childhood 0 96 0 29 13 0 0 40
Congenital hyperammonemia, type I 137 21 0 23 16 0 3 40
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 132 102 1 19 13 0 11 40
Familial Intrahepatic Cholestasis 78 33 0 24 16 0 0 40
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 261 36 3 17 13 1 8 40
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 41 36 1 21 24 0 2 40
Neuroblastoma Susceptibility 28 23 0 29 11 0 0 40
Neuropathy, hereditary sensory and autonomic, type VI 61 11 0 17 25 0 0 40
Ciliary dyskinesia, primary, 3 14 29 2 25 10 0 4 39
Cornelia de Lange Syndrome 111 14 0 32 12 0 0 39
Cryptophthalmos syndrome 482 64 0 20 17 2 2 39
Ehlers-Danlos syndrome, type vii, autosomal recessive 131 34 0 26 21 0 0 39
Familial cancer of breast; Ataxia-telangiectasia syndrome 1 66 0 18 21 1 0 39
Idiopathic fibrosing alveolitis, chronic form 20 54 8 21 8 1 7 39
Orofaciodigital syndrome 6; Joubert syndrome 17 33 13 2 31 11 0 2 39
Type II Collagenopathies 0 37 0 23 16 0 0 39
Enlarged vestibular aqueduct; Pendred syndrome 15 15 5 30 0 0 7 38
Mental retardation, autosomal dominant 1 82 33 0 16 32 0 2 38
Multiple fibrofolliculomas 205 180 5 18 18 0 4 38
Stickler Syndrome, Recessive 0 69 0 31 7 0 0 38
Congenital Muscular Dystrophy, alpha-dystroglycan related 109 63 1 17 20 0 1 37
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 59 0 26 12 1 0 37
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 189 104 0 18 19 0 2 37
Jervell and Lange-Nielsen syndrome 1 133 0 27 12 1 4 37
Juvenile myoclonic epilepsy 101 98 0 16 20 2 2 37
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 58 24 0 19 22 0 4 37
POLG-Related Spectrum Disorders 14 14 4 14 19 0 7 37
Severe Combined Immune Deficiency 148 93 1 19 16 0 2 37
Shprintzen-Goldberg syndrome 62 44 0 23 14 0 3 37
Acrocallosal syndrome, Schinzel type 60 15 0 25 11 0 2 36
Arterial tortuosity syndrome 83 35 0 23 18 0 4 36
Cranioectodermal dysplasia 49 145 0 19 15 0 2 36
Deficiency of butyryl-CoA dehydrogenase 80 8 0 17 4 0 18 36
Dilated cardiomyopathy 1G 77 37 1 21 7 0 9 36
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 40 22 0 21 19 0 6 36
Erythrocytosis 6, familial 0 1 0 1 0 36 1 36
Familial cold autoinflammatory syndrome 58 54 0 25 13 1 1 36
Familial hemophagocytic lymphohistiocytosis 155 22 0 17 20 0 2 36
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 46 37 1 17 10 0 15 36
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 164 57 3 17 10 0 11 36
Hereditary insensitivity to pain with anhidrosis 105 20 3 17 16 0 3 36
Hirschsprung Disease, Dominant 51 112 0 25 16 4 4 36
Hyper-IgE syndrome 108 27 1 22 13 0 0 36
Hypercholesterolaemia 0 1 0 13 14 0 29 36
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 80 30 0 22 18 0 1 36
Mitochondrial complex II deficiency 9 16 0 28 4 0 6 36
Niemann-Pick disease, type C 45 10 4 22 12 0 3 36
Otospondylomegaepiphyseal dysplasia 5 62 0 25 12 0 0 36
Pallister-Hall syndrome 25 114 5 25 7 0 1 36
Weissenbacher-Zweymuller syndrome 0 62 0 25 12 0 0 36
Alport syndrome 1, X-linked recessive 753 54 18 16 3 0 1 35
Charcot-Marie-Tooth disease type 2C 72 45 0 32 7 1 1 35
Congenital cataract 190 59 0 18 17 0 1 35
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 84 41 0 14 25 0 1 35
Epileptic encephalopathy 800 29 0 20 12 0 5 35
Glutaric aciduria, type 1 108 22 0 23 1 0 13 35
Glycogen storage disease, type V 97 21 0 20 12 0 5 35
Osteogenesis Imperfecta, Recessive 241 38 0 20 15 0 0 35
Persistent hyperinsulinemic hypoglycemia of infancy 151 20 0 23 6 0 6 35
Pseudoxanthoma elasticum 314 28 1 11 0 0 26 35
Pyruvate dehydrogenase complex deficiency 99 51 0 18 17 0 0 35
Achondrogenesis 70 95 1 24 9 0 0 34
Achromatopsia 76 96 1 20 11 0 4 34
Benign familial neonatal-infantile seizures 9 69 0 25 14 0 2 34
Carbohydrate-deficient glycoprotein syndrome type I 57 10 10 23 2 0 4 34
Carcinoma of colon 78 14 7 20 3 2 7 34
Charcot-Marie-Tooth, Intermediate 59 120 0 24 12 0 0 34
Craniosynostosis 19 176 5 24 5 0 1 34
FLNB-Related Spectrum Disorders 88 8 0 31 3 0 0 34
Fanconi anemia, complementation group J; Neoplasm of ovary 8 63 0 16 16 0 4 34
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 52 8 0 24 1 0 10 34
I cell disease; Pseudo-Hurler polydystrophy 50 8 18 14 1 0 2 34
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 366 30 0 16 12 2 12 34
Mitochondrial DNA depletion syndrome 77 153 0 16 16 0 2 34
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 80 17 0 24 25 0 1 34
Paroxysmal familial ventricular fibrillation 0 72 1 12 23 1 1 34
Sick sinus syndrome 2 73 1 12 23 1 1 34
desflurane response - Toxicity/ADR 0 12 0 0 0 34 0 34
enflurane response - Toxicity/ADR 0 12 0 0 0 34 0 34
halothane response - Toxicity/ADR 0 12 0 0 0 34 0 34
isoflurane response - Toxicity/ADR 0 12 0 0 0 34 0 34
methoxyflurane response - Toxicity/ADR 0 12 0 0 0 34 0 34
sevoflurane response - Toxicity/ADR 0 12 0 0 0 34 0 34
succinylcholine response - Toxicity/ADR 0 12 0 0 0 34 0 34
FG syndrome 59 19 1 20 13 0 2 33
GLUT1 deficiency syndrome 1, autosomal recessive 47 22 0 20 17 1 2 33
Greig cephalopolysyndactyly syndrome 9 117 0 27 7 0 2 33
Nephrotic syndrome 73 54 0 17 16 0 0 33
Usher syndrome 30 21 2 20 2 0 12 33
Weaver syndrome 43 107 0 26 9 0 0 33
Atypical Gaucher Disease 0 57 0 16 17 0 0 32
Baller-Gerold syndrome 868 100 1 19 11 0 2 32
Charcot-Marie-Tooth Neuropathy X 59 18 5 19 0 0 11 32
Cockayne syndrome 25 107 0 14 19 0 0 32
Combined saposin deficiency 2 59 0 16 17 0 0 32
Epileptic encephalopathy, childhood-onset 104 45 0 14 16 0 3 32
Familial Atypical Mycobacteriosis, Autosomal Recessive 83 19 0 21 11 0 0 32
Glycogen storage disease of heart, lethal congenital 49 84 0 17 19 0 1 32
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 129 15 1 20 10 0 1 32
Left ventricular noncompaction 8 106 49 0 23 9 0 0 32
Marshall syndrome 2 89 0 15 16 1 0 32
Methylmalonic acidemia 195 53 0 15 17 0 0 32
Mitochondrial myopathy and sideroblastic anemia 18 18 0 16 16 0 0 32
Pseudohypoaldosteronism, type 2 75 154 0 20 12 0 0 32
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 109 13 0 21 12 0 1 32
Venous thrombosis 2 123 0 27 3 2 2 32
short QT syndrome 4 141 0 24 12 0 1 32
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 6 3 0 4 2 29 4 31
Arrhythmogenic right ventricular cardiomyopathy, type 5 34 34 1 14 19 0 2 31
Brugada syndrome 8 120 66 0 13 20 0 4 31
CDH23-Related Disorders 0 68 0 1 30 0 0 31
Cone dystrophy 3 129 13 0 22 8 0 1 31
Deficiency of alpha-mannosidase 129 10 4 18 4 0 8 31
Dilated Cardiomyopathy, Recessive 86 60 1 21 10 1 0 31
Frontotemporal dementia 69 75 1 21 7 1 2 31
Joubert syndrome 17 38 11 5 17 8 0 8 31
Limb-girdle muscular dystrophy, type 2D 71 17 0 16 10 0 6 31
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 27 36 0 19 19 0 1 31
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 59 39 0 16 15 0 5 31
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 129 22 0 19 18 0 1 31
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 59 53 0 22 14 0 0 31
Polydactyly 0 114 0 25 7 0 1 31
Spinal muscular atrophy 44 21 0 7 24 0 0 31
Waardenburg syndrome 16 177 0 27 7 1 1 31
Autosomal recessive cerebellar ataxia 84 97 0 16 13 0 3 30
Bare lymphocyte syndrome 2 202 11 0 16 12 0 2 30
Coenzyme Q10 deficiency, primary 76 6 0 8 19 2 1 30
Fanconi anemia, complementation group A 161 63 2 19 2 0 9 30
Focal segmental glomerulosclerosis 171 33 0 23 7 1 0 30
Freeman-Sheldon syndrome 3 78 0 25 5 0 0 30
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 37 37 0 16 11 0 7 30
Hyperinsulinism, Dominant 82 97 0 23 9 0 0 30
MYH9-related disorder 1 113 0 20 11 0 0 30
Morquio syndrome 30 46 1 20 7 0 2 30
Oculocutaneous albinism 71 16 0 20 8 5 4 30
Osteopetrosis 209 50 0 25 5 0 0 30
Primary Microcephaly 2 With or Without Cortical Malformations 24 15 0 12 18 0 0 30
Renal adysplasia 26 66 0 21 14 2 2 30
Spondylometaphyseal dysplasia 7 46 0 26 4 1 3 30
Thrombophilia due to activated protein C resistance 5 104 0 29 0 1 1 30
ivacaftor response - Efficacy 2 1 0 0 0 30 0 30
Ataxia with Oculomotor Apraxia 0 99 0 22 8 0 1 29
Autosomal recessive congenital ichthyosis 1 76 14 0 21 1 0 7 29
Benign familial neonatal seizures 55 170 0 16 13 0 4 29
Carnitine palmitoyltransferase II deficiency 68 23 0 19 8 1 4 29
Ceroid lipofuscinosis neuronal 1 100 10 15 15 3 0 3 29
Charcot-Marie-Tooth disease, dominant intermediate B 67 25 0 21 9 0 0 29
Congenital Stationary Night Blindness, Recessive 307 19 0 15 14 0 0 29
Costello syndrome 50 24 0 21 9 0 2 29
Familial adenomatous polyposis 84 46 4 18 5 2 8 29
Glycogen phosphorylase kinase deficiency 92 5 0 8 21 0 0 29
Holocarboxylase synthetase deficiency 105 15 0 20 9 0 3 29
Neurofibromatosis-Noonan syndrome 2 59 0 19 13 0 0 29
Progressive familial heart block type 1B 57 25 0 17 13 0 5 29
Pyridoxine-dependent epilepsy 121 27 0 16 13 0 4 29
Treacher Collins Syndrome, Dominant 71 5 0 28 2 0 0 29
Argininosuccinate lyase deficiency 76 10 2 16 5 0 6 28
Dystonia 12 62 47 1 19 6 0 3 28
Early infantile epileptic encephalopathy 9 88 24 0 20 9 0 4 28
Ehlers-Danlos syndrome, hydroxylysine-deficient 115 35 0 14 16 0 1 28
Epilepsy 83 39 0 19 9 0 3 28
Fanconi anemia, complementation group C 60 25 0 18 13 0 0 28
Malignant Melanoma Susceptibility 64 4 0 19 8 6 8 28
Mucopolysaccharidosis type VI 257 20 0 15 4 0 10 28
Progressive myoclonus epilepsy with ataxia 86 17 3 17 13 0 4 28
Abnormality of brain morphology 63 0 0 13 0 0 14 27
Aicardi Goutieres syndrome 72 50 0 20 9 0 1 27
Alport syndrome, autosomal recessive 182 20 0 18 0 0 11 27
Aplastic anemia 25 22 8 13 6 2 10 27
Café-au-lait macules with pulmonary stenosis 2 58 0 17 13 0 0 27
Cerebrooculofacioskeletal Syndrome 0 103 0 11 17 0 0 27
Cutaneous malignant melanoma 5 48 8 0 19 8 3 9 27
Distal spinal muscular atrophy, congenital nonprogressive 0 44 0 25 4 1 1 27
Enlarged vestibular aqueduct 24 14 3 24 0 0 5 27
Hereditary sensory neuropathy type IE 79 26 0 16 12 0 0 27
Infantile cortical hyperostosis 1 64 1 13 12 0 1 27
Long QT syndrome 2 26 37 0 15 7 1 8 27
MLH3-Related Lynch Syndrome 123 5 0 13 15 0 1 27
Mononeuropathy of the Median Nerve 0 355 0 8 19 0 0 27
Myelodysplastic syndrome 2 12 0 26 0 1 1 27
Neoplasm of the thyroid gland 0 14 0 26 0 1 1 27
Neurofibromatosis, familial spinal 3 59 0 17 13 0 0 27
Rett syndrome, congenital variant 55 25 0 11 19 0 2 27
Segawa syndrome, autosomal recessive 72 16 1 16 9 0 4 27
Severe combined immunodeficiency due to ADA deficiency 60 16 0 19 5 0 9 27
Thrombocytopenia 176 2 0 27 0 0 0 27
Tubulinopathies 50 44 0 24 0 0 5 27
ATR-X syndrome 91 16 0 21 7 0 1 26
Angelman syndrome 170 35 1 10 12 0 7 26
Autosomal recessive centronuclear myopathy 85 9 0 18 10 0 1 26
Cardiac arrhythmia, ankyrin B-related 5 11 0 17 11 0 3 26
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 67 26 0 20 3 0 4 26
Creatine deficiency, X-linked 44 19 3 20 4 1 2 26
Distal hereditary motor neuronopathy 7 63 0 18 8 0 1 26
Generalized epilepsy and paroxysmal dyskinesia 95 13 0 17 14 0 1 26
Histiocytic medullary reticulosis 64 85 0 15 7 0 5 26
Long QT syndrome 11 3 4 0 20 10 0 1 26
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 34 18 0 22 0 0 5 26
Metatrophic dysplasia 3 51 0 24 4 1 1 26
Nijmegen breakage syndrome-like disorder 9 44 1 16 10 0 0 26
Pyruvate carboxylase deficiency 64 6 5 3 11 0 7 26
Spastic paraplegia 7 56 20 0 14 9 0 7 26
Adrenoleukodystrophy 123 24 0 18 5 0 5 25
Amyloidogenic transthyretin amyloidosis 43 22 0 17 10 1 6 25
Autism spectrum disorder 376 40 0 9 8 5 4 25
Brachydactyly 95 83 0 14 12 1 0 25
Brachyolmia 1 41 0 23 4 1 1 25
Brugada syndrome 4 54 15 0 13 18 0 1 25
Budd-Chiari syndrome 49 108 0 25 0 1 0 25
Carney complex, type 1 96 12 7 9 6 1 2 25
Catecholaminergic polymorphic ventricular tachycardia type 1 26 14 4 6 10 1 9 25
Congenital hypothyroidism 304 50 0 20 4 0 1 25
Danon disease 59 72 0 18 12 0 0 25
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 91 24 0 16 10 0 1 25
Factor V deficiency 12 106 0 24 0 1 1 25
Familial hypokalemia-hypomagnesemia 115 11 1 18 2 0 5 25
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 0 18 0 13 12 0 0 25
Junctional epidermolysis bullosa gravis of Herlitz 252 15 5 10 1 0 9 25
Juvenile neuronal ceroid lipofuscinosis 63 4 10 11 0 0 6 25
KCNQ2-Related Disorders 17 9 0 21 6 0 1 25
Maturity-onset diabetes of the young, type 2 101 20 4 11 3 0 8 25
Melanoma-pancreatic cancer syndrome 15 18 4 13 10 5 2 25
Mucopolysaccharidosis, MPS-III-A 56 14 2 20 0 0 5 25
Multiple cutaneous leiomyomas 21 53 0 15 5 0 6 25
Multiple endocrine neoplasia, type 4 95 23 0 17 7 0 2 25
Netherton syndrome 72 21 0 20 6 0 1 25
Pleuropulmonary blastoma 67 19 0 15 11 0 0 25
Scapuloperoneal spinal muscular atrophy 0 44 0 23 4 1 1 25
Syndromic intellectual disability 48 72 0 17 8 0 0 25
Atypical hemolytic uremic syndrome 123 165 0 9 9 7 2 24
Bifunctional peroxisomal enzyme deficiency 61 25 0 12 7 0 5 24
Colorectal cancer 9 18 0 7 15 1 4 24
Congenital Muscular Dystrophy, ITGA7-related 30 8 0 2 22 0 0 24
Deafness, autosomal dominant 3a 6 23 8 19 1 0 4 24
Dementia, Deafness, and Sensory Neuropathy 29 18 0 12 13 0 0 24
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 97 35 0 12 8 0 5 24
Gaucher disease 15 4 16 11 0 3 4 24
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 30 7 0 20 5 0 2 24
Holt-Oram syndrome 152 25 0 16 8 0 3 24
Leber's optic atrophy 18 5 20 1 0 0 5 24
Loeys-Dietz syndrome 4 61 25 0 15 10 0 3 24
Malignant tumor of prostate 473 3 7 2 7 0 11 24
Mental retardation, autosomal dominant 5 122 25 0 16 7 0 2 24
Multiple pterygium syndrome Escobar type 5 97 0 11 13 0 0 24
Primary hyperoxaluria 66 9 0 13 20 0 0 24
Pyogenic arthritis, pyoderma gangrenosum and acne 44 13 0 18 5 0 2 24
Retinitis pigmentosa 25 53 21 0 15 8 0 4 24
Robinow syndrome 88 65 0 10 15 0 1 24
Sotos syndrome 0 94 0 18 8 0 0 24
Achromatopsia 3 96 5 2 19 2 0 4 23
Ceroid lipofuscinosis neuronal 5 49 4 8 14 4 0 3 23
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 37 27 0 10 14 0 2 23
Deafness, autosomal recessive 77 13 25 0 12 13 0 1 23
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 5 15 1 16 6 0 3 23
Familial hypertrophic cardiomyopathy 10 33 22 0 16 4 0 6 23
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 98 21 0 13 10 0 0 23
Gaucher's disease, type 1 31 8 13 12 0 3 4 23
Glutaric aciduria, type 2 58 21 0 14 7 0 4 23
Glycogen storage disease 0, muscle 33 4 0 8 14 0 1 23
Glycogen storage disease, type IV 4 31 13 7 2 0 4 23
Hermansky Pudlak syndrome 2 25 5 5 10 11 0 0 23
Homocystinuria 24 11 0 8 14 0 2 23
Majeed syndrome 131 20 2 10 15 0 0 23
Megaloblastic anemia due to inborn errors of metabolism 101 12 0 12 7 0 4 23
Mitochondrial complex III deficiency 83 11 0 11 11 0 3 23
Osteogenesis imperfecta 49 11 1 14 8 0 2 23
Primary pulmonary hypertension 592 46 0 11 5 0 7 23
Sanfilippo syndrome 162 17 0 14 9 0 0 23
Three M syndrome 139 15 0 3 20 0 0 23
Treacher Collins syndrome 1 54 5 0 18 5 0 0 23
Adenylosuccinate lyase deficiency 39 21 0 12 10 0 4 22
Arteriohepatic dysplasia 2 68 0 14 7 0 1 22
Crohn disease 0 74 0 10 13 4 0 22
Curry-Hall syndrome 4 148 0 15 9 0 0 22
Dilated cardiomyopathy 1AA 2 6 0 16 10 0 1 22
Dyskeratosis congenita autosomal dominant 65 3 12 2 0 0 10 22
Dysostosis multiplex 119 26 1 8 9 2 4 22
Early infantile epileptic encephalopathy 10 7 9 0 10 14 0 2 22
Epilepsy, familial focal, with variable foci 1 206 66 0 8 7 0 8 22
Familial infantile myasthenia 61 13 0 16 4 0 4 22
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 50 10 0 13 8 0 2 22
Genetic prion diseases 36 3 15 5 2 1 2 22
Hearing loss 6 12 9 14 2 0 4 22
Hypertrichotic osteochondrodysplasia 7 18 1 10 12 0 0 22
Isovaleryl-CoA dehydrogenase deficiency 85 9 0 14 3 0 7 22
Limb-girdle muscular dystrophy, type 2J 14 38 2 8 6 0 7 22
Loeys-Dietz syndrome 2 41 22 0 16 9 0 1 22
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 119 54 0 18 4 0 3 22
Mitochondrial diseases 34 40 7 14 5 0 6 22
Mitochondrial trifunctional protein deficiency 46 40 0 11 11 0 0 22
Muscle eye brain disease 74 1 10 16 2 0 4 22
Nasopharyngeal Neoplasms 0 5 0 17 0 4 6 22
Naxos disease 5 30 1 10 11 0 0 22
Nephropathic cystinosis 50 117 5 13 4 0 3 22
Nephrotic syndrome, idiopathic, steroid-resistant 53 9 0 16 0 2 7 22
Optic Atrophy, Dominant 46 145 0 15 7 0 1 22
Pitt-Hopkins syndrome 170 18 0 19 4 0 1 22
Sotos syndrome 1 188 43 0 9 12 0 1 22
Spastic paraplegia 3 39 5 6 14 1 0 2 22
Blau syndrome 3 77 0 9 12 5 0 21
Breast-ovarian cancer, familial 3 3 21 0 13 4 5 0 21
Brugada syndrome 1 13 14 0 12 4 1 9 21
Centronuclear Myopathy, Dominant 14 40 0 17 6 0 0 21
Chondroectodermal dysplasia 143 16 0 11 4 0 7 21
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 42 10 0 17 11 0 0 21
Diastrophic dysplasia 13 109 15 9 1 0 1 21
Dilated cardiomyopathy 1O 66 37 0 16 10 0 0 21
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 42 14 0 16 7 0 1 21
Epilepsy juvenile absence; Juvenile myoclonic epilepsy 39 19 0 16 14 1 0 21
Glycogen storage disease, type VI 35 10 6 9 6 0 3 21
Hereditary spastic paraplegia 55 17 1 8 10 0 7 21
Holoprosencephaly 3 24 1 18 4 2 0 2 21
Hyperekplexia hereditary 55 11 11 7 2 0 3 21
Intellectual disability 129 30 0 13 3 0 7 21
Lethal multiple pterygium syndrome 64 19 0 11 13 0 0 21
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 38 18 0 13 5 0 5 21
Liver failure acute infantile 39 8 0 10 10 1 0 21
Obesity 30 16 1 9 6 5 5 21
Papillary renal cell carcinoma, sporadic 0 31 0 19 0 1 3 21
Polyglandular autoimmune syndrome, type 1 100 16 1 18 3 0 0 21
Pseudohypoaldosteronism type 1 autosomal recessive 11 127 0 15 5 0 4 21
Spastic paraplegia 48, autosomal recessive 60 15 0 13 10 0 1 21
Tyrosinase-negative oculocutaneous albinism 17 30 1 17 1 2 3 21
Tyrosinemia type I 49 7 7 12 1 1 3 21
Warburg micro syndrome 110 77 0 8 13 0 0 21
Adenoid cystic carcinoma 12 24 0 14 0 1 6 20
Alexander Disease 63 82 0 17 2 0 2 20
Aspartylglucosaminuria 62 5 6 12 3 0 4 20
Biotin-thiamine-responsive basal ganglia disease 41 9 0 13 10 0 0 20
Breast cancer, susceptibility to 13 9 0 5 1 15 3 20
Brody myopathy 75 15 0 12 6 0 3 20
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 0 19 0 7 3 10 2 20
Brugada syndrome 5 29 25 0 12 11 0 0 20
Combined oxidative phosphorylation deficiency 14 58 8 0 10 4 0 8 20
Cornelia de Lange syndrome 1 286 34 0 9 8 0 3 20
Cryopyrin associated periodic syndrome 19 11 0 12 8 0 3 20
Dihydropyrimidine dehydrogenase deficiency 95 15 0 11 2 6 5 20
Dilated cardiomyopathy 1A 9 10 5 11 3 0 5 20
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 27 22 0 11 11 0 5 20
Epidermolysis bullosa, junctional 253 110 1 9 5 0 5 20
Familial Candidiasis, Recessive 192 16 0 7 13 0 0 20
Hearing impairment 18 11 10 11 1 0 4 20
Hereditary motor and sensory neuropathy 0 52 0 15 6 0 1 20
Histiocytosis-lymphadenopathy plus syndrome 59 8 0 17 3 0 2 20
Hypoglycemia with deficiency of glycogen synthetase in the liver 46 8 0 6 12 0 2 20
Idiopathic hypereosinophilic syndrome 0 72 1 13 8 0 0 20
Inclusion body myopathy 2 55 18 3 13 0 0 5 20
Isolated Nonsyndromic Congenital Heart Disease 0 68 0 12 7 0 1 20
Kartagener syndrome 16 47 2 12 3 0 5 20
Limb-girdle muscular dystrophy, type 2F 30 12 0 9 11 0 2 20
Megaloblastic anemia 194 14 0 11 9 0 0 20
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 51 15 0 11 10 0 2