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
2495693 190353 814 68716 55102 1124 13585 127067
Total conditions with conflicts: 10073
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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 956230 119951 335 44643 31168 647 6134 76990
not specified 53126 41279 193 24333 14197 264 1922 37150
Hereditary cancer-predisposing syndrome 110672 24834 0 2149 7616 10 274 9914
Cardiovascular phenotype 29683 13651 1 4609 4481 17 578 8810
Hypercholesterolemia, familial, 1 1319 629 1 767 245 0 453 1169
Primary ciliary dyskinesia 16987 1485 0 336 753 0 41 1105
Breast and/or ovarian cancer 346 717 33 673 442 9 49 1002
Nemaline myopathy 2 8387 735 1 153 689 0 25 851
Tuberous sclerosis 2 6740 905 0 589 256 0 28 839
Inborn genetic diseases 433089 2354 0 202 621 2 20 837
Familial hypercholesterolemia 1706 470 1 517 212 0 318 830
Spastic paraplegia 9308 776 0 384 425 1 45 806
RYR1-Related Disorders 4466 1252 0 295 396 35 159 781
Familial cancer of breast 13059 1852 0 506 210 2 88 772
Breast-ovarian cancer, familial, susceptibility to, 2 3584 2401 0 345 483 0 69 733
Breast-ovarian cancer, familial, susceptibility to, 1 5786 2268 0 269 339 1 109 583
Fanconi anemia 13013 1117 0 288 279 0 56 582
Cardiac arrhythmia 985 1152 0 309 234 3 84 572
TTN-related condition 232 211 0 348 340 0 24 547
Neurofibromatosis, type 1 9069 2048 0 305 136 0 118 541
See cases 24359 816 13 225 201 4 145 539
Familial thoracic aortic aneurysm and aortic dissection 11854 1669 0 274 248 0 40 535
Hereditary breast ovarian cancer syndrome 19360 1550 0 347 162 1 35 527
Cystic fibrosis 2611 1282 3 316 129 1 164 512
Ataxia-telangiectasia syndrome 10767 1350 0 277 191 0 40 475
Fanconi anemia complementation group A 604 505 0 206 201 0 57 432
Malignant hyperthermia, susceptibility to, 1 114 269 0 159 221 41 72 421
Autosomal recessive polycystic kidney disease 3337 360 0 192 189 0 64 402
Glycogen storage disease, type II 1730 444 0 235 108 3 76 383
Wilson disease 1740 340 0 224 113 0 80 367
Phenylketonuria 892 203 22 260 27 0 81 346
Cardiomyopathy 13583 992 1 169 130 0 31 331
Cohen syndrome 4390 581 24 183 148 0 18 321
Very long chain acyl-CoA dehydrogenase deficiency 1327 162 0 192 64 0 105 318
Tuberous sclerosis 1 2947 447 0 210 110 0 4 306
Familial adenomatous polyposis 1 8897 1281 0 172 120 1 15 282
Non-ketotic hyperglycinemia 2453 227 24 143 86 0 56 270
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 1260 328 0 84 159 2 13 250
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2813 131 0 35 214 0 0 249
Alstrom syndrome 4256 1086 0 111 122 10 2 240
Lynch syndrome 1 1280 266 0 128 125 0 11 238
Neuromuscular disease, congenital, with uniform type 1 fiber 10 76 0 105 152 1 3 234
Adams-Oliver syndrome 5 2120 356 0 71 156 0 6 233
Niemann-Pick disease, type C1 1899 144 0 134 60 0 42 218
Li-Fraumeni syndrome 1488 554 0 126 75 0 27 217
Maple syrup urine disease 1650 174 0 144 42 0 48 214
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2700 329 0 108 116 0 1 211
Marfan syndrome 1502 164 2 153 25 0 47 210
Hereditary diffuse gastric adenocarcinoma 3021 287 0 95 128 0 9 206
Rare genetic deafness 235 296 0 171 0 3 44 201
Li-Fraumeni syndrome 1 90 547 0 116 67 0 27 200
Propionic acidemia 1936 182 1 109 64 0 39 197
Catecholaminergic polymorphic ventricular tachycardia 1 5914 194 0 85 127 0 12 196
Kabuki syndrome 1 509 112 0 68 121 0 11 193
Hypertrophic cardiomyopathy 9236 334 0 118 23 0 56 192
Qualitative or quantitative defects of dysferlin 2955 68 0 36 146 0 10 192
Lynch syndrome 5 1062 194 0 103 93 0 4 184
Limb-Girdle Muscular Dystrophy, Recessive 200 153 0 80 105 0 5 181
Kabuki syndrome 3749 101 0 53 124 0 10 180
Dilated Cardiomyopathy, Dominant 526 157 0 75 111 0 3 177
Glycogen storage disease type III 1876 410 0 116 59 0 6 175
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2205 57 0 5 170 0 0 175
History of neurodevelopmental disorder 32 70 0 134 65 0 6 173
Colorectal cancer, susceptibility to, 10 2666 1330 0 80 96 3 1 170
Retinal dystrophy 6046 202 0 102 21 0 47 168
Tip-toe gait 67 23 0 29 18 2 131 168
Colorectal cancer, hereditary nonpolyposis, type 2 883 160 0 96 73 0 15 167
Bloom syndrome 2694 634 0 108 63 0 12 166
Peutz-Jeghers syndrome 1400 366 0 66 105 0 9 166
Autosomal recessive limb-girdle muscular dystrophy type 2A 1153 200 0 93 53 0 27 165
Mucopolysaccharidosis, MPS-IV-A 847 106 0 76 30 2 76 165
Arrhythmogenic right ventricular dysplasia 2 13 147 0 50 116 0 1 164
Jeune thoracic dystrophy 3131 20 0 105 44 0 26 164
Retinitis Pigmentosa, Recessive 191 104 4 78 90 3 8 160
Autosomal recessive limb-girdle muscular dystrophy type 2J 1861 193 0 156 1 0 2 158
Hereditary cancer 36 26 0 27 149 2 0 158
Charlevoix-Saguenay spastic ataxia 845 172 0 69 97 0 4 156
BRCA2-related condition 38 130 1 101 89 0 6 155
Neuroblastoma, susceptibility to, 3 2615 1320 0 54 99 4 1 155
CFTR-related disorders 291 395 0 67 58 29 50 154
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 13 84 0 14 138 0 0 152
Medium-chain acyl-coenzyme A dehydrogenase deficiency 552 82 0 115 12 0 39 152
RAI1-related condition 25 128 0 71 94 0 1 152
ABCA4-Related Disorders 22 40 4 47 87 5 25 151
Rett syndrome 517 162 0 82 22 0 52 150
Hereditary spastic paraplegia 11 2580 222 7 56 81 1 10 147
Renal carnitine transport defect 799 178 0 89 34 0 42 144
Deficiency of alpha-mannosidase 1327 133 0 65 63 0 26 140
Familial Mediterranean fever 676 206 0 30 113 0 16 139
Glycogen storage disease, type V 974 127 0 81 51 0 26 139
Dilated cardiomyopathy 1DD 1287 86 0 22 120 0 2 138
Early-onset myopathy with fatal cardiomyopathy 1884 194 1 136 1 0 0 138
FLNB-Related Spectrum Disorders 81 42 0 41 97 0 0 137
Smith-Lemli-Opitz syndrome 583 115 0 81 34 0 35 136
Usher syndrome type 2A 1252 410 2 96 36 0 7 136
Glutaric aciduria, type 1 605 69 0 91 18 0 42 133
Zellweger spectrum disorders 1455 150 0 72 66 0 8 133
Adrenoleukodystrophy 1075 110 0 83 31 0 32 132
Left ventricular noncompaction cardiomyopathy 46 116 0 66 63 0 11 129
Galactosylceramide beta-galactosidase deficiency 1051 94 0 75 35 3 26 128
Epileptic encephalopathy 3936 246 0 87 36 1 8 127
PLEC-related condition 70 62 0 38 96 0 0 127
Multiple acyl-CoA dehydrogenase deficiency 1354 81 0 68 38 0 25 126
Retinitis pigmentosa 39 1153 146 0 108 0 0 21 126
KMT2D-related condition 393 107 0 72 72 0 0 125
Tay-Sachs disease 863 95 0 77 23 31 14 124
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 920 163 0 51 75 0 0 123
PCNT-related condition 141 359 0 44 81 0 2 122
Classic homocystinuria 113 135 0 79 26 0 24 121
Congenital hyperammonemia, type I 1507 92 0 48 67 0 15 121
Chédiak-Higashi syndrome 2837 221 0 41 82 0 3 120
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 711 128 0 77 26 0 23 120
MHC class II deficiency 2005 227 0 30 92 0 4 120
Epidermolysis bullosa dystrophica inversa, autosomal recessive 25 84 0 18 98 0 5 119
Retinitis pigmentosa 5115 125 2 60 18 0 44 119
Metachromatic leukodystrophy 958 94 0 80 21 1 23 118
Mucopolysaccharidosis, MPS-III-A 772 127 0 63 48 0 19 117
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 4200 132 0 16 85 0 15 116
Malignant hyperthermia, susceptibility to, 5 12 290 0 80 33 2 5 115
Maturity onset diabetes mellitus in young 1817 48 0 58 22 31 3 113
Hereditary pancreatitis 1617 309 0 50 52 4 30 112
Progressive sclerosing poliodystrophy 2153 222 0 62 24 0 36 112
Woolly hair-skin fragility syndrome 44 50 0 27 85 0 0 112
Asphyxiating thoracic dystrophy 3 294 94 0 89 16 0 11 111
Biotinidase deficiency 414 68 0 84 8 0 46 111
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2 385 0 54 40 4 23 111
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 529 43 0 85 13 0 24 111
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 49 120 0 15 82 0 14 111
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 5021 146 0 16 97 0 3 111
Cholestanol storage disease 814 68 35 57 28 0 16 110
Familial adenomatous polyposis 2 1782 235 1 66 35 0 18 110
Microcephaly, normal intelligence and immunodeficiency 2049 691 0 52 62 0 3 110
Hereditary insensitivity to pain with anhidrosis 908 205 0 28 77 0 6 109
RYR1-related condition 50 139 0 39 68 2 17 109
WFS1-Related Spectrum Disorders 53 56 1 55 53 0 5 109
Ehlers-Danlos syndrome, type 4 1866 123 0 77 26 0 7 107
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 126 0 27 79 0 3 107
Aortic aneurysm, familial thoracic 4 1680 97 0 35 73 0 2 106
Sotos syndrome 842 173 0 60 41 0 9 106
Autosomal recessive DOPA responsive dystonia 823 116 0 40 52 0 22 105
Charcot-Marie-Tooth disease, type I 812 149 0 52 29 0 32 105
Charcot-Marie-Tooth disease axonal type 2O 3478 72 0 30 66 0 11 104
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2835 80 0 13 90 0 0 103
Lynch syndrome 2092 205 40 49 13 0 6 103
Lynch syndrome 4 554 166 0 82 22 0 10 102
PRPH2-Related Disorders 308 79 0 59 13 0 35 102
PMM2-congenital disorder of glycosylation 505 72 0 71 14 0 29 101
Peroxisome biogenesis disorder 1A (Zellweger) 179 57 0 56 42 0 8 101
Werner syndrome 3353 126 0 48 49 0 5 101
Congenital muscular dystrophy due to partial LAMA2 deficiency 92 80 0 33 63 0 4 99
Mucopolysaccharidosis type 6 696 77 0 52 21 0 33 99
Primary hyperoxaluria, type I 300 49 0 64 31 0 9 98
Alpha thalassemia-X-linked intellectual disability syndrome 1760 77 0 35 62 0 1 97
Landau-Kleffner syndrome 1535 61 0 53 40 0 6 97
PKD1-related condition 415 119 0 65 28 0 12 97
PKHD1-related condition 171 61 0 19 71 1 13 97
Pendred syndrome 291 87 0 65 23 0 12 97
SYNE1-related condition 57 41 0 52 61 0 0 97
Long QT syndrome 10582 109 0 38 45 0 19 95
Dyskeratosis congenita 2493 197 0 36 59 0 4 94
Finnish congenital nephrotic syndrome 414 62 32 62 12 0 17 94
GLUT1 deficiency syndrome 1, autosomal recessive 477 143 0 47 40 0 17 93
Hereditary hyperinsulinism 34 67 0 38 60 0 1 93
Telangiectasia, hereditary hemorrhagic, type 1 183 109 0 44 40 0 10 93
ATM-related condition 56 117 0 50 58 0 0 92
Cone-Rod Dystrophy, Recessive 25 34 4 52 48 3 7 92
Hereditary hemorrhagic telangiectasia 951 100 0 43 40 0 10 92
Argininosuccinate lyase deficiency 637 60 0 51 22 0 29 91
Congenital contractural arachnodactyly 2080 114 0 34 53 0 4 91
Ehlers-Danlos syndrome, dermatosparaxis type 1258 215 0 21 72 0 0 91
Glanzmann thrombasthenia 687 104 0 40 31 0 21 91
APC-Associated Polyposis Disorders 72 38 8 42 55 0 0 90
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2653 63 0 15 76 0 0 90
Autosomal recessive nonsyndromic hearing loss 4 438 48 0 41 13 40 15 89
Mucopolysaccharidosis type 1 1127 147 0 38 45 4 5 89
Saldino-Mainzer syndrome 1461 73 0 14 72 0 3 89
TSC2-related condition 109 101 2 51 51 0 0 88
CFTR-related condition 63 87 0 29 45 13 23 86
Gorlin syndrome 4614 129 0 33 47 0 8 86
Elliptocytosis 0 70 0 43 43 0 0 85
Autosomal recessive retinitis pigmentosa 95 116 0 33 43 0 12 84
CREBBP-related condition 219 55 0 44 45 0 4 83
Colorectal cancer, susceptibility to, 12 361 279 0 44 39 1 2 83
Combined malonic and methylmalonic acidemia 652 79 0 54 20 0 11 83
Fabry disease 555 195 0 52 17 1 24 83
Glycogen storage disease, type IV 76 60 6 45 24 0 21 83
Seizure 256 88 0 25 49 1 15 83
Aortic aneurysm, familial thoracic 7 1450 77 0 20 58 0 5 82
BRCA1-related condition 27 57 0 64 38 1 3 82
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 650 55 4 45 24 0 20 81
Hereditary nonpolyposis colorectal neoplasms 17166 182 0 76 1 0 5 81
Hereditary nonpolyposis colon cancer 109 176 0 75 1 0 4 80
PTEN hamartoma tumor syndrome 1624 118 0 41 19 0 30 80
Polycystic kidney disease, adult type 1161 195 0 62 11 1 14 80
Polyglandular autoimmune syndrome, type 1 873 145 2 39 36 0 5 80
Donnai-Barrow syndrome 524 162 0 42 38 0 1 79
POLG-Related Spectrum Disorders 35 30 0 30 43 0 16 78
RASopathy 5464 234 4 53 13 0 10 78
Tyrosinemia type I 516 71 0 48 27 1 7 78
Familial hypokalemia-hypomagnesemia 294 103 0 45 27 0 9 77
Stargardt Disease, Recessive 2 25 4 47 40 3 5 77
Hirschsprung disease, susceptibility to, 1 153 95 2 33 36 10 7 76
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 3998 87 0 11 65 0 1 76
Thyrotoxic periodic paralysis, susceptibility to, 1 1 265 0 66 7 2 2 76
ARID1B-related condition 60 41 0 61 18 0 1 75
Autosomal recessive limb-girdle muscular dystrophy type 2D 470 117 0 44 19 0 17 75
Deficiency of acetyl-CoA acetyltransferase 538 60 0 49 18 0 9 75
MECP2-related condition 31 31 0 53 30 0 1 75
Spherocytosis, Dominant 11 63 0 39 37 0 0 75
Arrhythmogenic right ventricular dysplasia 9 1129 125 0 38 39 0 3 74
Holocarboxylase synthetase deficiency 739 60 0 35 35 0 9 74
Severe early-childhood-onset retinal dystrophy 403 48 0 61 1 2 14 74
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 480 75 0 44 19 0 17 73
Type II Collagenopathies 16 36 0 49 32 0 0 73
APC-related condition 99 76 2 47 41 0 1 72
Gastrointestinal stromal tumor 5235 149 0 21 42 0 9 71
Mucolipidosis type IV 658 57 0 29 43 0 3 71
POLG-related disorder 41 49 0 34 49 0 11 71
Autosomal recessive nonsyndromic hearing loss 77 348 70 0 25 53 0 1 70
PIEZO1-related condition 112 67 0 38 41 1 1 70
POLE-related condition 12 127 0 37 40 0 6 70
Stickler Syndrome, Dominant 18 28 0 41 35 0 0 70
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 37 48 0 30 40 1 1 69
Infantile neuroaxonal dystrophy 692 47 0 28 19 0 24 69
Mowat-Wilson syndrome 942 84 0 37 32 0 1 69
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 1 68 0 11 58 0 0 69
Niemann-Pick disease, type A 193 46 0 42 11 0 19 69
Pyruvate carboxylase deficiency 1202 25 0 20 42 0 8 69
ADGRV1-related condition 21 39 0 37 44 0 1 68
Bardet-Biedl syndrome 6874 75 3 45 6 0 14 68
Charcot-Marie-Tooth Neuropathy X 522 72 0 39 10 0 21 68
Disorders of Intracellular Cobalamin Metabolism 378 84 0 34 32 2 2 68
Familial hemophagocytic lymphohistiocytosis 3 1326 74 0 19 47 0 3 68
Hereditary spastic paraplegia 48 682 56 0 15 50 0 3 68
LAMA2-related muscular dystrophy 3908 54 0 27 39 0 2 68
Retinitis pigmentosa 25 695 98 0 47 8 0 16 68
Anophthalmia-microphthalmia syndrome 182 96 0 23 42 0 5 67
Autosomal recessive congenital ichthyosis 1 219 47 0 48 15 0 13 67
Charcot-Marie-Tooth disease 3074 59 0 6 14 0 49 67
DICER1-related tumor predisposition 4764 221 0 36 25 0 8 67
Hereditary fructosuria 359 34 0 43 18 0 11 67
Isovaleryl-CoA dehydrogenase deficiency 555 56 0 44 12 0 16 67
Lysinuric protein intolerance 553 87 9 40 20 0 3 67
Retinoblastoma 2442 74 0 35 24 0 9 67
Spherocytosis 121 18 0 12 55 0 0 67
Nonsyndromic Hearing Loss, Recessive 103 36 0 27 39 0 0 66
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2498 77 0 9 56 0 1 66
VPS13B-related condition 281 81 0 14 54 0 0 66
Alkaptonuria 394 51 0 46 9 0 14 65
Multiple endocrine neoplasia, type 1 1763 132 0 38 26 0 8 65
Neuronal ceroid lipofuscinosis 3279 122 0 25 31 0 9 65
Sandhoff disease 592 51 0 41 18 0 10 65
Factor V deficiency 144 46 0 12 50 1 2 64
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 416 52 0 41 15 0 11 64
3-methylcrotonyl-CoA carboxylase 1 deficiency 578 84 0 33 22 0 9 63
CHARGE association 2958 85 0 33 25 1 4 63
MSH6-related condition 30 59 0 35 35 0 1 63
Adult hypophosphatasia 55 58 0 47 0 0 15 62
Cornelia de Lange syndrome 1 1030 118 0 33 26 0 9 62
Ehlers-Danlos syndrome, classic type, 1 3465 131 0 36 21 0 5 62
Hemolytic uremic syndrome, atypical, susceptibility to, 1 29 115 0 37 26 3 1 62
Hereditary spastic paraplegia 7 566 61 0 23 28 0 12 62
Hypophosphatasia 150 61 0 42 7 0 13 62
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 153 42 0 24 38 0 0 62
PLA2G6-associated neurodegeneration 55 38 0 24 18 0 21 62
Pyridoxine-dependent epilepsy 735 129 0 33 23 0 8 62
Severe myoclonic epilepsy in infancy 814 178 0 42 7 0 14 62
Aspartylglucosaminuria 382 40 12 41 18 0 6 61
Congenital factor V deficiency 501 41 0 11 49 1 1 61
Hyperkalemic periodic paralysis 1507 88 0 29 28 0 4 61
LAMA5-related condition 98 124 0 50 10 0 1 61
Neuronal ceroid lipofuscinosis 1 513 68 16 41 11 0 8 61
Short-rib thoracic dysplasia 6 with or without polydactyly 487 27 0 30 26 0 6 61
3-methylcrotonyl-CoA carboxylase 2 deficiency 533 50 0 38 12 0 17 60
Arrhythmogenic right ventricular dysplasia 10 1124 40 0 30 25 0 7 60
Ataxia-telangiectasia-like disorder 1 142 116 0 35 25 0 5 60
Early infantile epileptic encephalopathy with suppression bursts 12557 179 0 41 8 0 12 60
Isolated Nonsyndromic Congenital Heart Disease 63 21 0 35 32 0 1 60
KBG syndrome 1383 149 0 51 8 0 2 60
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 1232 247 0 23 37 0 0 60
Progressive familial heart block type IB 1125 39 0 18 45 0 3 60
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 542 44 0 36 8 0 25 59
Ataxia-telangiectasia-like disorder 837 113 0 33 25 0 5 59
Autosomal dominant Parkinson disease 8 675 100 0 33 29 1 3 59
CACNA1A-related disorder 52 44 0 41 26 0 4 59
CDH23-Related Disorders 15 26 0 2 57 0 1 59
EP300-related condition 195 59 0 41 21 0 0 59
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2 17 0 14 45 0 0 59
Glucose-6-phosphate transport defect 676 176 0 32 26 0 4 59
Ornithine aminotransferase deficiency 479 50 4 35 16 0 11 59
Spongy degeneration of central nervous system 304 25 0 37 13 0 12 59
Citrullinemia type I 231 37 0 38 9 0 15 58
HSPG2-related condition 9 30 0 42 26 0 0 58
Hypercholesterolemia, autosomal dominant, 3 475 69 0 27 28 3 6 58
DMD-related condition 27 26 0 38 32 0 1 57
Hereditary spastic paraplegia 39 1055 30 0 11 45 0 2 57
MYH9-related condition 47 42 0 32 34 0 0 57
Perlman syndrome 2066 80 0 20 39 0 2 57
Breast-ovarian cancer, familial, susceptibility to, 4 1127 147 0 32 18 6 7 56
Cobalamin C disease 322 126 0 41 7 0 13 56
Deficiency of butyryl-CoA dehydrogenase 304 31 0 28 12 1 26 56
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 1492 273 0 33 20 0 4 56
FRAS1-related condition 22 82 0 32 33 0 0 56
Brittle cornea syndrome 1 334 39 0 52 3 0 0 55
COL6A3-related condition 43 31 0 26 35 0 3 55
Hereditary spastic paraplegia 49 1003 128 0 24 29 0 2 55
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 632 54 0 29 9 0 20 55
Intellectual disability, CASK-related, X-linked 354 52 0 30 29 0 4 55
ABCA4-related condition 5 24 0 37 25 3 13 54
Familial cold autoinflammatory syndrome 2 906 81 0 21 30 0 6 54
Hypertrophic cardiomyopathy 1 733 50 0 36 11 0 12 54
Hypertrophic cardiomyopathy 4 261 70 0 38 9 0 10 54
NEB-related condition 79 43 0 13 46 0 1 54
Transitory neonatal diabetes mellitus 406 28 0 2 49 0 3 54
Autosomal recessive nonsyndromic hearing loss 1A 134 67 1 38 11 0 8 53
Bethlem myopathy 1 5453 69 0 13 27 0 13 53
Carnitine palmitoyl transferase 1A deficiency 788 94 1 23 22 0 8 53
Diabetes mellitus, transient neonatal, 2 42 36 0 1 50 0 2 53
Epilepsy, childhood absence 2; Febrile seizures, familial, 8 346 60 0 27 26 0 7 53
FGFR2-related craniosynostosis 266 78 0 33 20 0 2 53
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2460 27 0 14 39 0 0 53
LRP2-related condition 13 69 0 33 28 0 0 53
Leukocyte adhesion deficiency 1 613 57 0 16 36 0 1 53
Schimke immuno-osseous dysplasia 833 141 0 21 33 0 4 53
T-B+ severe combined immunodeficiency due to JAK3 deficiency 989 48 0 14 35 0 5 53
Usher syndrome type 1 1232 118 0 29 21 0 6 53
Alport syndrome 567 108 0 24 22 0 7 52
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 630 31 0 3 48 0 1 52
Cortical dysplasia-focal epilepsy syndrome 1368 96 0 12 41 0 0 52
Developmental and epileptic encephalopathy, 14 38 271 0 33 16 0 4 52
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 24 18 0 33 2 0 17 52
Hereditary spastic paraplegia 4 870 65 0 33 9 1 13 52
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 1342 69 0 12 42 0 0 52
Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 797 19 0 33 2 0 17 52
Noonan syndrome 9 941 146 0 26 26 0 0 52
FAT4-related condition 17 69 0 33 22 0 0 51
Infantile hypophosphatasia 49 40 0 35 0 0 16 51
Niemann-Pick disease, type C 22 18 0 43 5 0 10 51
ZNF469-related condition 3 65 0 36 24 0 0 51
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 21 106 7 35 11 0 6 50
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 646 128 0 19 32 0 0 50
Methylmalonic aciduria, cblB type 364 53 0 23 24 0 10 50
Acrocallosal syndrome 1084 64 0 8 40 0 2 49
Alpha-1-antitrypsin deficiency 317 21 0 26 20 1 8 49
COL6A2-related condition 39 9 0 15 33 0 3 49
MEGF10-related myopathy 768 33 0 7 40 0 2 49
MPI-congenital disorder of glycosylation 389 38 0 28 18 0 4 49
USH2A-related condition 4 33 0 32 22 0 6 49
Usher syndrome type 1B 404 105 0 26 21 0 5 49
ALG6-congenital disorder of glycosylation 1C 615 49 0 35 12 0 6 48
ANK2-related condition 26 25 0 37 11 0 3 48
CACNA1C-related disorder 28 27 0 39 19 0 1 48
Deficiency of galactokinase 386 31 0 25 19 0 10 48
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 16 71 11 32 14 1 6 48
Fanconi anemia complementation group C 360 57 0 35 12 0 2 48
Intellectual Disability, Recessive 33 14 0 16 32 0 0 48
Microcephaly 5, primary, autosomal recessive 412 202 0 34 12 0 3 48
Mucopolysaccharidosis, MPS-II 670 48 0 32 3 10 9 48
beta Thalassemia 241 93 0 37 8 0 6 48
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 208 21 0 30 5 0 19 47
ABCB11-related condition 22 36 0 20 33 0 2 47
Carnitine palmitoyltransferase II deficiency 740 105 0 9 32 0 7 47
FLNB-related condition 17 24 0 17 34 0 0 47
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2767 279 0 34 13 0 1 47
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 297 45 0 23 13 0 16 47
Long QT syndrome 1 412 132 0 35 6 0 7 47
Myofibrillar Myopathy, Dominant 25 42 0 29 22 0 0 47
NF1-related condition 179 96 0 26 20 0 3 47
Birt-Hogg-Dube syndrome 1642 158 0 27 16 0 6 46
CDH23-related condition 10 47 0 27 25 0 0 46
Cystinuria 320 52 0 17 20 0 11 46
Deficiency of ferroxidase 394 41 9 16 18 0 6 46
FBN3-related condition 7 110 0 41 5 0 0 46
NPHP4-related condition 87 26 0 5 43 0 1 46
Neurodevelopmental delay 208 43 0 27 4 0 17 46
ABCG8-related condition 12 28 0 18 34 1 2 45
CHD7-related condition 96 49 0 28 25 0 1 45
Colorectal cancer, hereditary nonpolyposis, type 7 1018 34 0 24 20 0 3 45
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 469 74 0 37 8 0 0 45
Hereditary sensory neuropathy-deafness-dementia syndrome 1110 41 0 24 18 0 5 45
Juvenile myoclonic epilepsy 138 8 0 23 25 0 1 45
MSH2-related condition 14 49 0 18 33 0 2 45
Primary hyperoxaluria, type II 141 27 0 26 15 0 6 45
Retinitis pigmentosa 12; Leber congenital amaurosis 8 1432 63 0 25 12 0 9 45
SETX-related condition 49 39 0 27 24 0 0 45
Salla disease 478 24 5 32 12 0 2 45
ANKRD11-related condition 88 41 0 40 5 0 0 44
COL11A1-related condition 37 35 0 22 26 0 2 44
Cardiac arrhythmia, ankyrin-B-related 387 64 0 40 4 0 3 44
DYSF-related condition 22 12 0 10 33 0 4 44
Duchenne muscular dystrophy 6967 191 0 27 9 1 9 44
Lissencephaly, Recessive 49 12 0 9 35 0 0 44
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 621 173 0 16 28 0 0 44
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 21 23 0 31 1 2 21 44
ABCC2-related condition 25 56 0 19 26 0 1 43
ANKRD1-related dilated cardiomyopathy 193 95 0 26 22 0 1 43
Brugada syndrome 1 243 60 0 19 20 0 7 43
COL11A2-related condition 8 39 0 19 27 0 1 43
Cystic fibrosis; CFTR-related disorders 12 28 0 37 0 0 18 43
Glycogen storage disease IXb 830 27 0 15 25 0 4 43
KCNQ1-related condition 93 28 0 40 6 0 1 43
MYH6-related condition 21 55 0 35 14 0 0 43
Macular dystrophy 18 16 0 31 2 1 17 43
NOTCH1-related condition 81 73 0 31 14 0 0 43
Telangiectasia, hereditary hemorrhagic, type 2 632 93 0 31 5 0 7 43
ANO5-Related Muscle Diseases 23 70 0 21 27 0 3 42
CC2D2A-related condition 64 21 0 13 29 0 2 42
COL2A1-related condition 28 42 0 21 26 0 2 42
Chorea-acanthocytosis 345 54 0 21 24 0 0 42
Developmental and epileptic encephalopathy, 2 190 40 0 20 12 0 11 42
EGFR-related lung cancer 2463 121 0 21 17 3 3 42
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 20 12 0 29 13 0 0 42
Maple syrup urine disease type 1A 2 51 0 21 19 0 3 42
Primary erythromelalgia 125 47 0 28 10 0 5 42
SMARCA4-related condition 78 44 0 28 13 0 1 42
Bardet-Biedl syndrome 1 240 109 0 31 6 0 7 41
CDH1-related condition 16 26 1 29 17 0 0 41
CEP290-related condition 152 65 0 15 27 0 2 41
COL7A1-related condition 17 56 0 22 18 0 5 41
Charcot-Marie-Tooth disease dominant intermediate B 965 35 0 14 10 0 18 41
Developmental and epileptic encephalopathy, 36 827 74 0 29 10 0 2 41
FBN1-related condition 65 44 0 25 16 0 5 41
FLNC-related condition 21 55 0 29 18 0 1 41
Global developmental delay 201 38 0 26 11 1 10 41
Hyperinsulinemic hypoglycemia, familial, 1 380 49 0 29 3 0 9 41
LAMA2-related condition 28 13 0 6 36 0 1 41
MYH7-related condition 15 40 0 28 12 0 6 41
Menkes kinky-hair syndrome 360 7 0 0 1 0 40 41
Neuronal ceroid lipofuscinosis 5 128 41 10 27 9 0 5 41
OTOG-related condition 19 36 0 22 24 0 0 41
Oligodontia-cancer predisposition syndrome 2836 103 0 23 18 0 2 41
PTCH1-related condition 85 42 1 26 19 0 1 41
TP63-Related Spectrum Disorders 414 52 0 23 18 0 3 41
Autosomal recessive limb-girdle muscular dystrophy type 2E 374 61 0 30 3 0 12 40
Cowden syndrome 1 481 53 0 34 4 0 4 40
Familial aplasia of the vermis 2392 46 0 12 20 0 9 40
Familial infantile myasthenia 768 33 0 18 20 0 5 40
Hypokalemic periodic paralysis, type 1 342 103 0 38 2 0 0 40
MYO15A-related condition 4 24 0 27 18 0 2 40
Multiple endocrine neoplasia, type 2a 145 53 0 23 15 0 3 40
NOTCH2-related condition 99 20 0 11 32 0 0 40
Neuronal ceroid lipofuscinosis 3 175 38 14 19 5 0 8 40
X-linked severe combined immunodeficiency 348 22 0 27 9 0 4 40
desflurane response - Toxicity 0 0 0 0 0 40 0 40
enflurane response - Toxicity 0 0 0 0 0 40 0 40
halothane response - Toxicity 0 0 0 0 0 40 0 40
isoflurane response - Toxicity 0 0 0 0 0 40 0 40
methoxyflurane response - Toxicity 0 0 0 0 0 40 0 40
sevoflurane response - Toxicity 0 0 0 0 0 40 0 40
succinylcholine response - Toxicity 0 0 0 0 0 40 0 40
Arrhythmogenic right ventricular dysplasia 11 924 93 0 14 27 0 0 39
Autosomal recessive nonsyndromic hearing loss 3 522 58 0 16 13 0 10 39
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 680 29 0 9 27 0 3 39
FAT1-related condition 83 68 0 25 15 0 0 39
FLNA-related condition 86 70 0 26 21 0 0 39
Familial hemophagocytic lymphohistiocytosis 5 927 36 0 15 22 0 3 39
Generalized epilepsy-paroxysmal dyskinesia syndrome 955 22 0 10 29 0 0 39
Hereditary factor XI deficiency disease 210 17 0 24 2 0 16 39
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 69 29 0 10 27 0 3 39
LZTR1-related condition 26 48 0 27 9 0 7 39
Melanoma, cutaneous malignant, susceptibility to, 5 406 37 0 23 16 1 0 39
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 88 29 0 19 17 0 3 39
Mucopolysaccharidosis, MPS-III-B 167 22 0 20 11 0 12 39
Myopathy, proximal, and ophthalmoplegia 1025 107 0 11 22 0 9 39
Peroxisome biogenesis disorder 6A (Zellweger) 60 29 0 20 16 0 4 39
Peroxisome biogenesis disorder, complementation group 7 586 29 0 20 16 0 4 39
Pierson syndrome 45 60 0 11 28 0 0 39
RELN-related condition 49 11 0 17 26 0 0 39
SYNE2-related condition 52 20 0 23 21 0 0 39
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 1078 198 0 21 18 0 0 39
WFS1-related condition 20 47 0 24 15 0 5 39
ARID1A-related condition 42 21 0 32 10 0 0 38
BRIP1-related condition 17 40 0 27 14 0 0 38
Bardet-Biedl syndrome 10 228 54 0 21 11 0 6 38
COG5-congenital disorder of glycosylation 669 30 0 11 27 0 2 38
Chitotriosidase deficiency 121 4 0 6 35 3 0 38
Congenital Muscular Dystrophy, alpha-dystroglycan related 197 23 0 17 20 0 1 38
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 739 34 0 16 12 0 11 38
Dilated cardiomyopathy 1O 1209 18 0 7 30 0 1 38
Hereditary factor VIII deficiency disease 542 61 0 26 4 0 11 38
KMT2A-related condition 24 36 0 29 10 0 0 38
Multiple sulfatase deficiency 612 44 0 16 22 0 1 38
NPC1-related condition 74 20 0 17 23 0 3 38
PHGDH deficiency 664 60 0 18 20 0 4 38
Pitt-Hopkins-like syndrome 2 1609 39 0 8 29 0 1 38
Polycystic kidney disease 4 803 107 0 32 0 0 7 38
Pyruvate dehydrogenase E3 deficiency 476 41 0 19 16 0 3 38
SACS-related condition 3 21 0 25 18 0 0 38
Stargardt disease 157 20 0 32 0 2 7 38
Succinate-semialdehyde dehydrogenase deficiency 622 65 0 13 14 0 11 38
ASPM-related condition 8 20 0 27 17 0 0 37
Achondrogenesis, type IA 509 60 0 8 27 0 2 37
Cranioectodermal dysplasia 1 422 91 0 15 19 0 4 37
Familial dysautonomia 516 65 0 15 23 0 0 37
Fanconi anemia complementation group E 530 89 0 20 18 0 2 37
Giant axonal neuropathy 1 582 62 0 9 16 0 16 37
Kleefstra syndrome 1 1647 46 0 9 27 0 1 37
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 7 239 0 31 6 0 0 37
Lethal multiple pterygium syndrome 842 32 0 4 30 0 3 37
Microcephalic osteodysplastic primordial dwarfism type II 460 86 0 21 15 0 1 37
OBSCN-related condition 143 124 0 37 2 0 0 37
PALB2-related condition 11 60 0 19 21 0 0 37
Pigmentary pallidal degeneration 528 29 0 14 15 0 8 37
Primary ciliary dyskinesia 3 727 113 0 21 11 0 7 37
ALPK3-related condition 3 38 0 36 2 0 1 36
Bardet-Biedl syndrome 2 209 38 0 22 11 0 6 36
Brain small vessel disease 1 with or without ocular anomalies 204 47 0 26 10 0 0 36
Developmental and epileptic encephalopathy, 12 1707 28 0 8 29 0 0 36
Dystonia 12 833 54 0 23 13 0 1 36
Glycogen storage disease, type VII 724 63 0 22 13 0 3 36
Hereditary spherocytosis type 1 461 74 0 23 13 0 0 36
Intellectual disability, autosomal dominant 5 1144 53 0 11 18 0 10 36
KMT2C-related condition 41 42 0 30 7 0 1 36
Leber congenital amaurosis 4 431 23 0 13 22 0 2 36
Myopathy, centronuclear, 2 527 38 0 8 27 0 2 36
Primary familial hypertrophic cardiomyopathy 819 55 0 20 8 0 11 36
Primary hyperoxaluria type 3 166 24 0 9 11 0 18 36
RTTN-related condition 12 24 0 26 13 0 1 36
RYR2-related condition 9 34 0 26 17 0 1 36
Rafiq syndrome 305 47 0 9 24 0 3 36
Small fiber neuropathy 27 37 0 27 7 0 3 36
X-linked Alport syndrome 605 68 1 24 6 0 8 36
Breast-ovarian cancer, familial, susceptibility to, 3 217 43 0 17 14 5 2 35
CACNA1H-related condition 54 29 0 29 9 0 0 35
Dilated cardiomyopathy 1W 981 29 0 7 26 0 2 35
Ellis-van Creveld syndrome 693 66 0 23 10 0 6 35
Merosin deficient congenital muscular dystrophy 342 45 1 27 1 0 6 35
Nephronophthisis 8 69 21 0 16 22 1 0 35
Osteogenesis Imperfecta, Recessive 45 16 0 11 24 0 0 35
AXIN2-related condition 18 25 0 24 19 0 1 34
Abnormality of the musculature 108 46 0 28 0 0 11 34
BAP1-related tumor predisposition syndrome 1847 168 0 18 12 0 5 34
COL4A5-related condition 28 20 0 30 5 0 1 34
DNAH9-related condition 29 105 0 28 6 0 0 34
Deficiency of hydroxymethylglutaryl-CoA lyase 379 53 0 17 12 0 6 34
Dilated cardiomyopathy 1JJ 960 150 0 26 6 0 2 34
Ehlers-Danlos syndrome, kyphoscoliotic type 1 804 79 0 7 26 0 2 34
Hyperprolinemia type 2 204 20 0 13 20 0 3 34
Immunodeficiency 35 710 62 0 7 26 0 2 34
JAG1-related condition 59 37 0 14 21 0 2 34
Leber congenital amaurosis 13 444 42 0 30 1 0 4 34
MYBPC3-related condition 14 29 0 26 13 0 2 34
Majeed syndrome 649 67 0 15 24 0 0 34
Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 2 33 0 16 16 0 3 34
Severe X-linked myotubular myopathy 563 52 0 23 3 0 8 34
Supravalvar aortic stenosis 694 43 0 13 21 0 0 34
carboxymethyl-dextran-A2-gadolinium-DOTA 0 78 0 17 22 0 0 34
ABCB4-related condition 28 40 0 10 20 0 6 33
AHDC1-related condition 20 28 0 29 7 0 0 33
APOB-related condition 21 50 0 21 15 0 1 33
Autosomal recessive Alport syndrome 549 51 0 22 1 0 11 33
COL5A1-related condition 35 34 0 21 14 0 0 33
Exostoses, multiple, type 2 596 74 0 18 14 0 2 33
Familial hemophagocytic lymphohistiocytosis 2 532 37 0 10 19 0 5 33
GNE myopathy 246 30 0 25 2 0 9 33
ITPR1-related condition 13 19 0 26 10 0 0 33
MTOR-related condition 19 31 0 27 5 0 1 33
MYO7A-related condition 10 48 0 14 23 0 3 33
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 399 45 0 4 29 0 0 33
Mucolipidosis type II; Pseudo-Hurler polydystrophy 1200 38 0 27 3 0 3 33
NOTCH3-related condition 21 28 0 22 13 0 2 33
Ornithine carbamoyltransferase deficiency 483 57 0 19 8 0 9 33
POLD1-related condition 30 71 0 24 17 0 0 33
Primary dilated cardiomyopathy 2693 40 0 13 9 0 11 33
STK11-related condition 10 15 0 28 12 0 0 33
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2 171 0 18 15 0 0 33
TJP2-related condition 21 22 0 11 26 0 1 33
Thrombophilia due to protein C deficiency, autosomal dominant 242 23 0 16 9 0 10 33
Tyrosinase-positive oculocutaneous albinism 155 36 0 14 11 0 11 33
ANKRD26-related condition 31 18 0 20 16 0 0 32
Autosomal recessive limb-girdle muscular dystrophy type 2B 688 67 0 24 8 0 2 32
Autosomal recessive osteopetrosis 1 280 64 0 21 8 0 6 32
CACNA1S-related condition 15 28 0 18 16 0 2 32
DOCK6-related condition 22 36 0 24 9 0 0 32
Deficiency of aromatic-L-amino-acid decarboxylase 432 25 0 11 13 0 8 32
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2699 155 0 19 12 0 1 32
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2448 31 0 14 15 0 3 32
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 24 174 0 21 11 0 0 32
Methylmalonic aciduria, cblA type 416 53 0 18 11 0 5 32
Monogenic Non-Syndromic Obesity 90 7 0 12 20 0 0 32
Mucopolysaccharidosis type 7 520 27 0 13 11 1 9 32
Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 431 74 0 17 13 0 2 32
Primary Microcephaly, Recessive 21 19 0 13 19 0 0 32
SCN5A-related condition 6 27 0 25 8 0 3 32
A2ML1-related condition 12 36 0 23 12 0 0 31
ALG12-congenital disorder of glycosylation 414 28 0 9 21 0 1 31
Abnormality of the nervous system 70 34 0 26 0 0 11 31
Arginase deficiency 433 34 0 20 6 0 8 31
Arterial tortuosity syndrome 373 43 0 14 19 0 2 31
Atrial fibrillation, familial, 7 354 42 0 10 20 0 3 31
Brugada syndrome 3099 87 0 12 15 0 6 31
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 246 41 0 18 9 0 7 31
Epidermolysis bullosa dystrophica 436 43 0 10 18 0 3 31
FANCA-related condition 90 40 0 10 22 0 2 31
Gaucher disease due to saposin C deficiency 7 37 0 5 26 0 0 31
Hereditary spastic paraplegia 3A 388 34 2 10 5 0 16 31
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1254 75 0 13 15 0 3 31
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 351 24 0 15 15 0 1 31
Immunodeficiency 104 1428 36 0 7 23 0 1 31
Isolated coronal synostosis 55 13 0 16 15 0 0 31
Krabbe disease due to saposin A deficiency 11 37 0 5 26 0 0 31
Limb-Girdle Muscular Dystrophy, Dominant 24 18 0 21 10 0 1 31
MLH1-related condition 20 32 0 20 14 0 2 31
Megalencephalic leukoencephalopathy with subcortical cysts 1 202 35 0 21 6 0 6 31
Nephrotic syndrome, type 2 104 51 0 24 2 0 7 31
Neutral lipid storage myopathy 443 68 0 5 26 0 0 31
Rubinstein-Taybi syndrome due to CREBBP mutations 311 43 0 11 17 0 3 31
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 562 43 0 12 19 0 2 31
TRIOBP-related condition 12 19 0 22 10 0 0 31
Acyl-CoA dehydrogenase 9 deficiency 168 17 0 14 10 0 9 30
Agenesis of the corpus callosum with peripheral neuropathy 311 40 0 15 17 0 0 30
COG7 congenital disorder of glycosylation 370 25 0 6 23 0 1 30
Creatine transporter deficiency 842 34 0 20 7 0 3 30
Fibrous dysplasia of jaw 637 33 0 12 18 0 1 30
Gamma-aminobutyric acid transaminase deficiency 637 28 0 7 21 0 2 30
Hereditary antithrombin deficiency 268 28 0 21 10 0 7 30
Leber congenital amaurosis 8 310 56 0 24 5 0 1 30
Leigh syndrome 3274 61 0 17 8 0 5 30
PCDH15-related condition 8 16 0 22 13 0 0 30
Pitt-Hopkins syndrome 759 35 0 18 8 0 4 30
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 462 57 0 19 13 0 0 30
RET-related condition 59 43 0 10 20 1 0 30
Sitosterolemia 1 160 44 0 12 18 0 2 30
TP53-related condition 21 25 0 21 14 0 0 30
3-Methylglutaconic aciduria type 2 368 16 0 17 3 0 10 29
Acyl-CoA oxidase deficiency 687 32 0 7 21 0 2 29
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 37 28 0 25 2 0 2 29
Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 8 94 0 7 22 0 0 29
Bardet-Biedl syndrome 12 132 76 0 17 7 0 6 29
Brody myopathy 602 86 0 5 19 0 5 29
COL4A3-related condition 25 31 0 16 9 0 10 29
COL4A4-related condition 21 41 0 16 7 0 9 29
Charcot-Marie-Tooth disease axonal type 2C 801 67 0 14 13 0 2 29
Congenital myasthenic syndrome 4A 1039 56 0 22 1 0 6 29
DSP-related condition 19 23 0 22 16 0 1 29
Dihydropyrimidine dehydrogenase deficiency 188 44 0 17 5 0 8 29
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 13 23 0 12 14 0 3 29
HIVEP2-related condition 22 30 0 26 3 0 0 29
Hyperammonemia, type III 496 34 0 16 13 0 4 29
Immunodeficiency 51 705 38 0 1 28 0 0 29
Jeune thoracic dystrophy; Nephronophthisis 838 94 0 7 22 0 0 29
Joubert syndrome 1 82 39 0 4 20 0 5 29
KAT6A-related condition 12 9 0 26 5 0 0 29
Koolen-de Vries syndrome 827 74 0 18 9 0 3 29
LAMC3-related condition 2 25 0 15 18 0 0 29
MACF1-related condition 59 37 0 27 3 0 0 29
MYH11-related condition 21 28 0 16 17 0 1 29
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 270 73 0 25 2 0 5 29
NEBL-related condition 8 12 0 26 7 0 0 29
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 22 10 0 14 15 0 0 29
Nijmegen breakage syndrome-like disorder 243 46 0 19 10 0 0 29
OTOGL-related condition 10 16 0 22 12 0 0 29
PMS2-related condition 11 36 0 14 17 0 2 29
Predisposition to invasive fungal disease due to CARD9 deficiency 443 33 0 10 15 5 0 29
SMPD1-related condition 31 15 0 7 21 0 2 29
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 532 69 0 10 17 0 2 29
Sitosterolemia 253 26 0 13 18 0 0 29
TSC1-related condition 40 25 0 14 23 0 0 29
Tramadol response 1581 0 0 0 0 29 0 29
Usher syndrome type 1F 613 51 0 19 2 0 9 29
Von Hippel-Lindau syndrome 453 71 0 16 6 0 8 29
Abnormal brain morphology 63 4 0 6 1 0 22 28
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 4 84 0 21 7 0 1 28
Autosomal recessive limb-girdle muscular dystrophy type 2C 350 77 0 21 6 0 2 28
Beta-D-mannosidosis 584 37 0 11 13 0 4 28
CHEK2-Related Cancer Susceptibility 10 21 0 9 15 1 5 28
CRB2-related condition 24 22 0 16 13 0 0 28
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 3 18 0 11 17 0 0 28
Charcot-Marie-Tooth disease axonal type 2P 663 48 0 9 16 0 3 28
DHCR7-related condition 21 15 0 12 15 0 3 28
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 559 66 0 12 12 0 4 28
Developmental and epileptic encephalopathy, 5 267 25 0 18 10 0 0 28
Dilated Cardiomyopathy, Recessive 696 15 0 23 5 0 0 28
GNPTG-mucolipidosis 167 25 1 9 16 0 3 28
Hermansky-Pudlak syndrome 2 625 39 0 9 20 0 1 28
Hypercholesterolemia 5 19 0 9 12 1 9 28
Hyperphosphatasia with intellectual disability syndrome 2 776 43 0 10 15 0 4 28
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 91 32 0 25 0 0 4 28
Neonatal insulin-dependent diabetes mellitus 8 6 0 12 12 3 2 28
Neurofibromatosis, type 2 1444 127 0 18 11 0 3 28
Neuronal ceroid lipofuscinosis 2 247 37 1 18 4 0 6 28
PEX1-related condition 47 9 0 11 20 0 0 28
UDPglucose-4-epimerase deficiency 290 13 0 11 14 0 5 28
ivacaftor response - Efficacy 4 0 0 0 0 28 0 28
ALG1-congenital disorder of glycosylation 643 78 0 20 3 0 6 27
ANK3-related condition 21 31 0 20 8 0 0 27
Angelman syndrome 605 56 0 8 18 0 3 27
Atypical Gaucher Disease 12 2 0 14 14 0 0 27
CHEK2-related condition 23 25 0 7 16 1 7 27
COL4A1-related condition 36 46 0 19 10 0 0 27
COL4A2-related condition 28 26 0 18 8 0 1 27
Congenital myasthenic syndrome 5 356 57 0 16 8 0 4 27
Cystinosis 30 48 0 14 11 0 2 27
DCHS1-related disorder 18 44 0 16 12 0 0 27
DYNC1H1-related condition 75 47 0 21 8 0 1 27
Deficiency of steroid 11-beta-monooxygenase 202 23 0 20 2 0 6 27
EHHADH-related condition 29 13 0 4 24 0 0 27
Eichsfeld type congenital muscular dystrophy 420 53 0 17 4 0 7 27
FREM2-related condition 25 56 0 14 18 0 0 27
KCNT1-related condition 17 23 0 20 11 0 0 27
Mitochondrial trifunctional protein deficiency 477 36 0 19 3 0 6 27
Nephronophthisis 15 1008 154 0 22 2 0 3 27
Orthostatic hypotension 1 329 49 0 7 18 0 2 27
Pontocerebellar hypoplasia type 6 149 28 0 14 7 0 7 27
SON-related condition 29 41 0 18 9 0 0 27
Shprintzen-Goldberg syndrome 638 42 0 12 13 0 2 27
ABCC8-related condition 22 27 0 9 18 0 3 26
Age related macular degeneration 1 284 166 0 25 1 0 0 26
Autosomal recessive early-onset Parkinson disease 6 247 42 0 6 18 0 2 26
Benign familial hematuria 38 16 0 15 4 0 12 26
COL18A1-related condition 29 74 0 15 14 0 0 26
Congenital long QT syndrome 1347 139 0 16 7 1 2 26
Developmental and epileptic encephalopathy 94 1575 56 0 9 12 0 7 26
Fanconi anemia complementation group I 330 59 0 21 4 0 1 26
GAA-related condition 17 11 0 6 21 0 2 26
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2857 275 0 9 16 0 1 26
Herpes simplex encephalitis, susceptibility to, 1 712 24 0 15 3 6 2 26
Inflammatory bowel disease 28 335 34 0 10 17 0 0 26
LAMA1-related condition 10 25 0 17 14 0 0 26
Mucolipidosis type II 273 40 7 9 9 0 1 26
Retinitis Pigmentosa, Dominant 83 51 0 11 14 0 1 26
Transcobalamin II deficiency 558 33 0 11 17 0 1 26
AUTS2-related condition 22 17 0 20 6 0 0 25
Amelocerebrohypohidrotic syndrome 504 21 0 12 13 0 1 25
CCDC88C-related condition 4 28 0 14 12 0 0 25
Capillary malformation-arteriovenous malformation 1 68 23 0 11 13 0 1 25
Capillary malformation-arteriovenous malformation syndrome 922 23 0 11 13 0 1 25
Combined oxidative phosphorylation defect type 14 395 23 0 16 3 0 6 25
Deficiency of malonyl-CoA decarboxylase 524 24 0 9 15 0 2 25
Fanconi anemia complementation group G 175 64 0 15 10 0 2 25
Glycogen storage disease, type VI 187 40 0 11 13 0 2 25
HUWE1-related condition 31 12 0 23 7 0 0 25
Hypercholesterolemia, familial, 4 347 82 0 9 17 0 3 25
Imerslund-Grasbeck syndrome 1619 11 2 11 4 0 9 25
LONP1-related condition 6 21 0 20 4 0 1 25
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 5 23 0 13 12 0 4 25
MYLK-related condition 21 22 0 17 9 0 0 25