ClinVar Miner

Variants with conflicting interpretations studied for not provided

Coded as:
Minimum review status of the submission for not provided: Y axis collection method of the submission for not provided:
Minimum review status of the other submission: Collection method of the other submission:
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
82838 27454 868 10288 10021 370 3332 21949

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
not provided pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 429 3086 705 55 27 2 6 48 5 75 57
likely pathogenic 1973 26 1319 55 26 0 0 15 0 18 11
uncertain significance 898 986 239 7775 2109 3 4 13 1 35 45
likely benign 100 47 1959 51 2613 0 3 0 1 14 16
benign 82 25 865 3623 125 1 2 1 4 14 20
drug response 0 1 0 0 0 0 0 0 0 0 0
risk factor 2 2 1 1 0 0 0 0 0 0 0
other 27 9 15 24 22 2 1 20 0 5 0

Condition to condition summary #

Total conditions: 3503
Download table as spreadsheet
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 0 8262 177 3402 5157 26 384 8583
Hereditary cancer-predisposing syndrome 0 7179 176 1201 1745 3 161 3062
not provided 122069 7637 159 1005 984 30 487 2535
Cardiovascular phenotype 0 1653 0 371 452 2 92 875
Hereditary breast and ovarian cancer syndrome 0 1795 42 320 377 0 32 678
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 845 0 112 460 0 18 558
Breast-ovarian cancer, familial 2 0 1078 40 250 373 0 47 557
History of neurodevelopmental disorder 0 483 0 160 283 0 14 447
Breast-ovarian cancer, familial 1 0 714 28 170 218 1 51 342
Hypertrophic cardiomyopathy 0 563 0 148 119 1 73 335
Hereditary nonpolyposis colon cancer 0 1198 25 119 173 0 13 314
Cardiomyopathy 0 499 3 112 161 1 33 296
Familial cancer of breast 0 822 21 159 101 0 26 279
Long QT syndrome 0 340 0 110 123 1 52 274
Lynch syndrome 0 588 56 145 95 0 27 263
Ataxia-telangiectasia syndrome 0 684 0 147 96 0 9 238
Inborn genetic diseases 0 405 1 113 20 0 91 219
Dilated Cardiomyopathy, Dominant 0 264 0 73 119 0 2 192
Seizures 0 264 0 83 85 0 17 178
Bethlem myopathy 1 0 231 0 28 134 0 17 176
Thoracic aortic aneurysm and aortic dissection 0 156 0 78 60 0 17 150
Familial hypercholesterolemia 0 67 0 113 48 0 54 148
Fanconi anemia 0 131 10 101 51 1 1 145
Familial adenomatous polyposis 1 0 454 32 69 63 1 4 142
Primary familial hypertrophic cardiomyopathy 0 215 0 89 17 0 40 142
Limb-Girdle Muscular Dystrophy, Recessive 0 277 0 43 91 0 4 136
Emery-Dreifuss muscular dystrophy 0 70 0 33 105 0 0 134
Brugada syndrome 0 206 1 57 54 0 26 130
Cystic fibrosis 0 175 2 56 47 1 45 127
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 0 178 0 9 115 0 0 123
Primary dilated cardiomyopathy 0 115 0 67 25 0 27 117
Rasopathy 0 203 2 63 48 0 12 117
Charcot-Marie-Tooth disease, type 2 0 169 2 51 57 0 14 115
Collagen VI-related myopathy 0 68 0 13 99 0 2 114
Distal myopathy Markesbery-Griggs type 0 210 2 34 76 0 3 113
Neoplasm of the breast 0 111 7 62 40 1 7 111
Hereditary myopathy with early respiratory failure 0 207 0 33 74 0 4 109
Neurofibromatosis, type 1 0 238 6 69 33 0 14 109
Early infantile epileptic encephalopathy 0 142 0 28 61 0 22 108
Marfan syndrome 0 91 2 72 19 0 20 107
Myopathy, early-onset, with fatal cardiomyopathy 0 205 0 32 73 0 2 106
RYR1-Related Disorders 0 156 0 41 57 0 18 105
Progressive sclerosing poliodystrophy 0 89 0 40 49 0 29 104
Arrhythmogenic right ventricular cardiomyopathy 0 71 0 60 42 0 4 102
Breast and/or ovarian cancer 0 169 14 47 50 0 10 97
Glycogen storage disease, type II 0 86 3 48 36 3 14 97
Cerebellar ataxia 0 49 0 21 77 0 0 95
Tuberous sclerosis 2 0 146 8 24 61 0 3 89
Colorectal cancer, susceptibility to, 12 0 258 0 42 43 1 0 83
Limb-girdle muscular dystrophy, type 2A 0 65 4 43 18 0 18 81
Connective tissue disorder 0 37 0 30 52 0 2 80
Duchenne muscular dystrophy 0 250 0 9 66 0 4 79
Cohen syndrome 0 39 1 44 32 0 3 75
Leigh syndrome 0 47 0 49 15 0 7 70
Myopathy, Central Core 0 136 13 12 42 0 10 70
Nonsyndromic Hearing Loss, Dominant 0 58 1 34 30 0 4 68
Lynch syndrome I 0 145 15 22 26 0 9 66
Hereditary diffuse gastric cancer 0 199 3 42 28 0 2 64
Phenylketonuria 0 211 0 51 1 0 13 64
Li-Fraumeni syndrome 0 130 3 19 18 0 23 62
Catecholaminergic polymorphic ventricular tachycardia 0 102 0 25 32 0 8 61
Ciliary dyskinesia 0 58 0 26 39 0 3 61
Nemaline myopathy 2 0 95 0 21 37 0 4 61
MYH-associated polyposis 0 116 14 29 19 0 10 60
Retinitis Pigmentosa, Recessive 0 140 4 24 29 0 4 60
Noonan syndrome 0 102 0 43 15 0 2 59
Malignant hyperthermia susceptibility 0 104 0 10 48 0 0 58
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 115 0 23 23 0 12 57
Microcephaly, normal intelligence and immunodeficiency 0 130 0 29 29 0 2 57
Stargardt disease 1 0 86 0 32 3 3 22 57
Tuberous sclerosis syndrome 0 199 15 36 14 0 0 57
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 149 0 16 41 0 1 55
Romano-Ward syndrome 0 33 0 27 28 1 0 54
Autosomal recessive polycystic kidney disease 0 84 0 32 12 0 12 53
Nonsyndromic Hearing Loss, Recessive 0 95 0 28 23 0 3 53
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 26 0 29 0 3 25 52
Very long chain acyl-CoA dehydrogenase deficiency 0 24 5 25 5 0 22 52
Colorectal cancer 10 0 192 0 33 20 0 0 51
Wilson disease 0 32 2 30 14 0 13 51
Bardet-Biedl syndrome 0 77 2 25 28 0 1 50
Familial hypertrophic cardiomyopathy 1 0 40 0 33 7 0 13 50
Neoplasm of the large intestine 0 32 2 40 0 0 9 50
Spastic paraplegia 0 75 0 25 27 0 2 50
Dysferlinopathy 0 87 0 14 33 0 5 49
Neuronal ceroid lipofuscinosis 0 104 0 18 29 0 3 49
Hereditary nonpolyposis colorectal cancer type 5 0 155 8 25 20 0 1 48
Lung adenocarcinoma 0 17 3 38 0 1 7 48
Mitochondrial complex I deficiency 0 21 0 29 14 0 6 47
Retinitis pigmentosa 0 42 2 22 4 0 23 47
Adenocarcinoma of stomach 0 14 2 36 0 0 8 46
Malignant melanoma of skin 0 7 3 38 0 0 6 46
Niemann-Pick disease type C1 0 40 5 27 6 0 13 46
Biotinidase deficiency 0 11 4 26 4 1 17 45
Familial cancer of breast; Fanconi anemia, complementation group J 0 235 0 24 15 0 6 44
Hereditary pancreatitis 0 42 5 21 6 3 16 44
Juvenile polyposis syndrome 0 110 6 19 22 0 3 44
Charcot-Marie-Tooth disease type 4 0 100 0 15 29 0 1 43
Familial hypercholesterolemias 0 86 0 27 15 0 1 43
Tuberous sclerosis 1 0 59 4 9 32 0 1 43
Macular degeneration 0 39 4 10 26 0 3 42
Neuromuscular disease, congenital, with uniform type 1 fiber 0 90 0 0 42 0 0 42
Ehlers-Danlos syndrome, type 7A 0 34 0 35 6 0 0 41
Familial hypertrophic cardiomyopathy 4 0 35 0 24 4 0 15 41
Malignant neoplasm of body of uterus 0 12 4 32 0 1 5 41
Multiminicore Disease 0 87 0 0 41 0 0 41
Pheochromocytoma 0 23 0 31 11 0 3 41
Transitional cell carcinoma of the bladder 0 11 3 32 0 0 6 41
Jeune thoracic dystrophy 0 37 0 16 14 0 14 40
Ovarian Neoplasms 0 101 2 35 0 0 2 39
Squamous cell carcinoma of the head and neck 0 16 0 33 0 0 6 39
APC-Associated Polyposis Disorders 0 17 1 31 10 0 0 38
Arrhythmia 0 87 0 14 20 0 5 38
PTEN hamartoma tumor syndrome 0 81 1 20 10 0 9 38
Peutz-Jeghers syndrome 0 101 0 22 19 0 2 38
Hepatocellular carcinoma 0 13 4 28 0 0 7 37
Renal cell carcinoma, papillary, 1 0 19 11 17 12 0 2 37
Deafness, autosomal recessive 1A 0 28 12 25 3 0 4 36
Familial Mediterranean fever 0 40 2 22 13 0 9 36
Limb-girdle muscular dystrophy, type 2B 0 60 0 23 3 0 10 36
Metachromatic leukodystrophy 0 27 10 22 3 2 6 36
Squamous cell lung carcinoma 0 12 0 29 0 0 7 36
Gorlin syndrome 0 24 6 17 16 0 0 35
Malignant hyperthermia, susceptibility to, 1 0 45 0 6 11 13 7 35
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 21 0 20 1 0 17 35
Peroxisome biogenesis disorder 1A (Zellweger) 0 72 0 24 11 0 1 35
Spastic ataxia Charlevoix-Saguenay type 0 21 1 25 9 0 3 35
von Willebrand disorder 0 17 0 32 2 0 1 35
Congenital contractural arachnodactyly 0 63 0 22 12 0 1 34
Hereditary nonpolyposis colorectal cancer type 4 0 71 14 17 10 0 2 34
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 51 0 11 24 0 2 34
Laminin alpha 2-related dystrophy 0 49 0 12 22 0 0 34
Bloom syndrome 0 28 4 8 19 0 2 33
Glycogen storage disease type III 0 25 8 22 7 0 1 33
Multiple endocrine neoplasia, type 2 0 73 9 12 15 0 0 33
Multiple myeloma 0 4 0 33 0 0 0 33
Retinal dystrophy 0 32 0 21 0 2 11 33
Ehlers-Danlos syndrome, classic type 0 122 0 6 21 0 6 32
Glioblastoma 0 11 0 26 0 1 5 32
Joubert syndrome 0 82 2 14 15 0 2 32
Maple syrup urine disease 0 25 2 21 6 0 7 32
Neoplasm of brain 0 14 0 28 0 0 5 32
Pancreatic adenocarcinoma 0 16 1 25 1 0 6 32
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 0 42 0 11 23 0 2 32
Smith-Lemli-Opitz syndrome 0 26 7 19 4 0 8 32
Spastic paraplegia 11, autosomal recessive 0 19 12 17 7 0 3 32
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 0 29 0 9 22 0 1 31
Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 44 0 10 22 0 0 31
Lynch syndrome II 0 85 5 15 13 0 3 31
Monogenic diabetes 0 39 0 12 16 0 3 31
Myosclerosis 0 27 0 3 27 0 1 31
Ovarian Serous Cystadenocarcinoma 0 16 0 25 0 0 6 31
Primary Microcephaly, Recessive 0 46 0 18 13 0 1 31
Alstrom syndrome 0 73 0 14 14 0 4 30
Carcinoma of esophagus 0 16 1 23 0 0 6 30
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 89 0 16 13 0 1 30
Ehlers-Danlos syndrome, type 4 0 36 0 18 13 0 1 30
Multiple endocrine neoplasia, type 2a 0 29 9 15 10 0 4 30
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 40 0 3 27 0 0 30
Rolandic epilepsy 0 2 0 1 0 0 30 30
Severe myoclonic epilepsy in infancy 0 92 0 11 12 0 8 30
Spastic Paraplegia, Recessive 0 19 0 11 19 0 0 30
Spinocerebellar Ataxia, Dominant 0 17 0 19 12 0 0 30
Holoprosencephaly sequence 0 12 2 19 8 0 0 29
Renal carnitine transport defect 0 23 0 22 1 0 8 29
Rett syndrome 0 67 2 16 2 0 13 29
beta Thalassemia 0 47 6 20 2 0 3 29
Acute myeloid leukemia 0 9 0 27 0 0 2 28
Aortic aneurysm, familial thoracic 4 0 49 0 10 18 0 1 28
Hereditary cutaneous melanoma 0 77 3 9 14 0 2 28
CHARGE association 0 48 0 13 15 0 1 27
Homocystinuria due to CBS deficiency 0 31 0 19 5 0 4 27
Left ventricular noncompaction cardiomyopathy 0 28 0 13 13 0 1 27
Osler hemorrhagic telangiectasia syndrome 0 28 0 20 7 0 1 27
Pendred syndrome 0 25 3 18 2 0 5 27
desflurane response - Toxicity/ADR 0 13 0 0 0 27 0 27
enflurane response - Toxicity/ADR 0 13 0 0 0 27 0 27
halothane response - Toxicity/ADR 0 13 0 0 0 27 0 27
isoflurane response - Toxicity/ADR 0 13 0 0 0 27 0 27
methoxyflurane response - Toxicity/ADR 0 13 0 0 0 27 0 27
sevoflurane response - Toxicity/ADR 0 13 0 0 0 27 0 27
succinylcholine response - Toxicity/ADR 0 13 0 0 0 27 0 27
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 57 0 12 12 0 2 26
Early infantile epileptic encephalopathy 12 0 34 0 7 18 0 1 26
Fabry disease 0 50 0 15 4 1 10 26
Hypokalemic periodic paralysis 0 21 0 13 14 0 0 26
Adenocarcinoma of prostate 0 7 4 17 0 0 5 25
Epidermolysis bullosa, lethal acantholytic 0 18 0 13 12 0 0 25
Fumarase deficiency 0 30 4 9 2 0 13 25
Gastrointestinal stroma tumor 0 3 11 4 11 2 0 25
Leber congenital amaurosis 0 67 1 14 10 1 1 25
Multiple endocrine neoplasia, type 1 0 44 3 17 4 0 3 25
Neoplasm of ovary 0 45 0 17 5 0 4 25
Nephronophthisis 0 100 1 5 19 0 1 25
Stickler Syndrome, Dominant 0 19 0 8 17 0 0 25
Cone-Rod Dystrophy, Recessive 0 49 4 8 10 0 3 24
Congenital disorder of glycosylation 0 35 0 12 11 0 1 24
Dilated cardiomyopathy 1G 0 27 0 18 1 0 5 24
Ectodermal dysplasia skin fragility syndrome 0 17 0 12 12 0 0 24
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 0 33 0 8 18 0 0 24
Fanconi anemia, complementation group J 0 50 0 16 6 0 2 24
Joubert syndrome; Meckel-Gruber syndrome 0 28 0 9 13 0 2 24
Pitt-Hopkins-like syndrome 1 0 58 0 3 21 0 0 24
Skin fragility woolly hair syndrome 0 17 0 12 12 0 0 24
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 35 0 20 0 0 5 24
Autosomal dominant nocturnal frontal lobe epilepsy 0 42 0 6 18 0 1 23
Deficiency of butyryl-CoA dehydrogenase 0 4 0 12 0 0 14 23
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 33 0 6 16 0 1 23
Kabuki syndrome 1 0 22 0 10 7 0 6 23
Limb-girdle muscular dystrophy, type 2D 0 17 0 14 5 0 4 23
Nemaline Myopathy, Recessive 0 50 0 13 10 0 0 23
Primary autosomal recessive microcephaly 5 0 44 13 4 6 0 1 23
Retinitis pigmentosa-deafness syndrome 0 47 1 12 9 0 1 23
Timothy syndrome 0 19 2 10 12 0 1 23
Uterine Carcinosarcoma 0 10 0 20 0 0 3 23
Walker-Warburg congenital muscular dystrophy 0 53 0 3 19 0 1 23
Dyssegmental Dysplasia 0 28 0 8 14 0 0 22
Galactosylceramide beta-galactosidase deficiency 0 22 0 16 2 0 5 22
Glutaric aciduria, type 1 0 11 0 15 1 0 7 22
Intellectual Disability, Dominant 0 12 0 10 12 0 0 22
Juvenile Polyposis 0 4 1 17 5 0 0 22
Kabuki syndrome 0 18 0 8 13 0 1 22
Myotonia congenita 0 6 10 7 4 0 4 22
Schwartz Jampel syndrome type 1 0 28 0 8 14 0 0 22
Stargardt Disease, Recessive 0 31 4 7 9 0 3 22
ivacaftor response - Efficacy 0 1 0 0 0 22 0 22
Alport syndrome 1, X-linked recessive 0 27 9 11 1 0 1 21
Amyotrophic Lateral Sclerosis, Dominant 0 15 0 17 5 0 1 21
Breast-ovarian cancer, familial 4 0 78 0 8 9 2 2 21
Cardio-facio-cutaneous syndrome 0 28 0 18 3 0 0 21
Cholestanol storage disease 0 9 11 11 4 0 2 21
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 0 23 2 6 10 0 4 21
Loeys-Dietz syndrome 0 12 0 14 6 0 2 21
Neurofibromatosis-Noonan syndrome 0 3 0 16 6 0 0 21
Acromicric dysplasia 0 11 0 14 7 0 0 20
Alpha-1-antitrypsin deficiency 0 8 0 6 7 2 6 20
Café-au-lait macules with pulmonary stenosis 0 3 0 15 6 0 0 20
Congenital Myasthenic Syndrome, Recessive 0 11 0 9 12 0 0 20
Dilated cardiomyopathy 3B 0 32 0 18 2 0 0 20
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 21 0 14 6 0 0 20
Ectopia lentis 0 9 0 14 7 0 0 20
Epilepsy, focal, with speech disorder and with or without mental retardation 0 23 0 7 11 0 2 20
Fibrochondrogenesis 0 14 0 5 15 0 0 20
Geleophysic dysplasia 0 10 0 14 7 0 0 20
Multiple endocrine neoplasia 0 3 4 12 7 0 0 20
Multiple fibrofolliculomas 0 51 5 7 7 0 3 20
Neoplasm 0 1 0 16 0 0 4 20
Neurofibromatosis, familial spinal 0 2 0 15 6 0 0 20
Noonan syndrome with multiple lentigines 0 9 4 10 6 0 0 20
Von Hippel-Lindau syndrome 0 49 0 11 4 0 6 20
Citrullinemia type I 0 15 0 14 1 0 7 19
Focal cortical dysplasia type II 0 7 5 7 10 0 0 19
Generalized epilepsy with febrile seizures plus 0 23 0 6 13 0 0 19
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 0 18 0 12 7 0 0 19
MASS syndrome 0 9 0 14 6 0 1 19
Non-ketotic hyperglycinemia 0 9 2 14 6 0 2 19
Pitt-Hopkins-like syndrome 2 0 18 0 5 14 0 0 19
Squamous cell carcinoma of the skin 0 5 0 16 0 0 3 19
Stiff skin syndrome 0 9 0 14 6 0 0 19
Weill-Marchesani syndrome 0 9 0 14 6 0 0 19
Finnish congenital nephrotic syndrome 0 2 0 13 5 0 0 18
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 20 4 11 1 0 2 18
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 0 23 0 9 10 0 0 18
Merosin deficient congenital muscular dystrophy 0 24 2 11 3 0 2 18
Nonsyndromic hearing loss and deafness 0 68 0 10 3 0 5 18
Permanent neonatal diabetes mellitus 0 8 5 9 4 0 0 18
Pseudoxanthoma elasticum 0 15 1 10 0 0 10 18
Tay-Sachs disease 0 15 0 8 5 2 3 18
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 37 0 7 7 0 5 17
Autism spectrum disorder 0 24 0 7 5 4 1 17
Autosomal recessive congenital ichthyosis 1 0 10 0 14 1 0 2 17
Brugada syndrome 8 0 29 0 3 13 0 1 17
Charcot-Marie-Tooth disease, axonal, type 2O 0 24 0 8 8 0 1 17
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 0 27 0 7 4 0 7 17
Familial adenomatous polyposis 0 33 3 9 5 1 4 17
Fanconi anemia, complementation group J; Neoplasm of ovary 0 55 0 9 4 0 4 17
Fanconi anemia, complementation group O 0 94 0 8 5 0 4 17
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 0 43 0 5 7 0 5 17
Hyperkalemic Periodic Paralysis Type 1 0 39 0 3 11 0 4 17
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 0 39 0 11 6 0 0 17
Long QT syndrome 1 0 39 0 11 0 0 6 17
Morquio syndrome 0 13 0 12 4 0 1 17
Mucopolysaccharidosis type VI 0 9 0 9 3 0 6 17
Occult macular dystrophy 0 5 1 0 14 1 2 17
Oligodontia-colorectal cancer syndrome 0 74 0 3 14 0 0 17
Progressive familial heart block 0 6 0 8 9 0 0 17
Progressive myoclonic epilepsy 0 44 0 4 12 0 1 17
Propionyl-CoA carboxylase deficiency 0 9 1 10 2 0 4 17
Sanfilippo syndrome 0 15 0 10 7 0 0 17
See cases 0 55 1 1 10 0 5 17
Usher syndrome, type 1 0 11 0 8 0 0 9 17
Charcot-Marie-Tooth disease, type I 0 25 0 7 6 0 4 16
Chronic lymphocytic leukemia 0 5 0 14 0 0 3 16
Distal spinal muscular atrophy 0 16 0 9 5 0 2 16
Elliptocytosis 0 4 0 8 8 0 0 16
Familial hypobetalipoproteinemia 0 4 0 15 0 0 1 16
Hypogonadism with anosmia 0 12 0 11 3 0 3 16
Li-Fraumeni syndrome 1 0 44 1 7 6 0 4 16
Lissencephaly, Recessive 0 29 0 7 9 0 0 16
Mitochondrial diseases 0 15 2 9 5 0 4 16
Multiple endocrine neoplasia, type 2b 0 10 5 10 2 0 1 16
Paroxysmal extreme pain disorder 0 22 0 5 10 0 1 16
Paroxysmal familial ventricular fibrillation 0 6 0 8 8 0 0 16
Potassium aggravated myotonia 0 11 0 7 10 0 0 16
Sick sinus syndrome 0 6 0 8 8 0 0 16
WFS1-Related Spectrum Disorders 0 8 1 11 4 0 2 16
Adenylosuccinate lyase deficiency 0 22 0 6 7 0 3 15
Amyloidogenic transthyretin amyloidosis 0 18 0 7 5 0 5 15
Breast cancer, susceptibility to 0 6 0 3 1 12 1 15
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 0 23 0 3 11 0 1 15
Ellis-van Creveld Syndrome 0 10 0 4 11 0 0 15
Glycogen storage disease, type V 0 17 0 10 2 0 4 15
Hyperkalemic Periodic Paralysis 0 6 0 6 10 0 0 15
Inherited Erythromelalgia 0 23 0 5 10 0 0 15
Meckel-Gruber syndrome 0 70 1 5 7 0 2 15
Mowat-Wilson syndrome 0 20 0 7 8 0 0 15
Myopathy, distal, 1 0 11 0 6 8 0 1 15
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 20 0 6 9 0 0 15
Paramyotonia congenita of von Eulenburg 0 14 0 6 10 0 0 15
Pyruvate dehydrogenase complex deficiency 0 22 0 9 6 0 0 15
Retinitis Pigmentosa, Dominant 0 40 3 7 5 0 1 15
Retinoblastoma 0 11 1 7 6 0 1 15
Small fiber neuropathy 0 21 0 4 10 0 2 15
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 31 0 5 8 0 2 15
Adrenoleukodystrophy 0 19 0 7 4 0 4 14
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 0 26 0 3 9 0 2 14
Carbohydrate-deficient glycoprotein syndrome type I 0 6 4 9 0 0 3 14
Ceroid lipofuscinosis neuronal 1 0 8 5 9 2 0 0 14
Charcot-Marie-Tooth Neuropathy X 0 19 0 8 0 0 6 14
Chondroectodermal dysplasia; Curry-Hall syndrome 0 13 0 7 7 0 1 14
Congenital Indifference to Pain 0 22 0 4 10 0 0 14
Dilated cardiomyopathy 1A 0 15 3 8 2 0 2 14
Dilated cardiomyopathy 1DD 0 32 1 4 8 0 3 14
Familial Febrile Seizures 0 22 0 4 10 0 0 14
Hirschsprung Disease, Dominant 0 1 0 9 6 0 0 14
Jervell and Lange-Nielsen syndrome 0 10 0 10 5 1 0 14
Marshall syndrome 0 9 0 4 10 0 0 14
Myelodysplastic syndrome 0 1 0 14 0 0 0 14
Myofibrillar Myopathy, Dominant 0 21 0 9 5 0 0 14
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 39 0 2 10 0 2 14
Parkinson disease 8, autosomal dominant 0 4 6 8 9 0 0 14
Pontoneocerebellar hypoplasia 0 22 0 9 2 0 3 14
Seckel syndrome 0 22 0 12 3 0 0 14
Small cell lung cancer 0 6 0 12 0 0 2 14
Spastic paraplegia 7 0 18 0 9 3 0 3 14
Spherocytosis, Dominant 0 5 1 12 1 0 0 14
Spherocytosis, Recessive 0 3 0 7 7 0 0 14
Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 0 36 0 2 12 0 1 14
Uterine cervical neoplasms 0 5 2 10 0 0 2 14
Alport syndrome 0 16 0 7 4 0 2 13
Alport syndrome, autosomal recessive 0 11 0 8 0 0 5 13
Ataxia with Oculomotor Apraxia 0 10 0 7 6 0 1 13
Ceroid lipofuscinosis neuronal 2 0 8 2 8 0 0 3 13
Dysostosis multiplex 0 12 1 4 8 1 1 13
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 0 19 0 3 6 0 4 13
Familial colorectal cancer 0 28 0 1 5 7 0 13
Familial hemiplegic migraine 0 22 0 6 8 0 0 13
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 22 0 6 0 0 7 13
Fanconi anemia, complementation group C 0 18 0 10 3 0 0 13
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 0 2 0 10 0 0 3 13
Gaucher disease 0 0 7 5 0 0 3 13
Hereditary insensitivity to pain with anhidrosis 0 11 1 8 4 0 0 13
Long QT syndrome 2 0 22 0 6 2 1 4 13
Myosin storage myopathy 0 8 0 5 8 0 0 13
Nephrotic syndrome, idiopathic, steroid-resistant 0 2 0 9 0 0 5 13
POLG-Related Spectrum Disorders 0 12 0 7 2 0 5 13
Renal adysplasia 0 1 0 9 5 0 0 13
Severe neonatal-onset encephalopathy with microcephaly 0 31 0 6 7 0 1 13
Spastic paraplegia, autosomal dominant 0 5 0 9 4 0 0 13
Usher syndrome, type 2A 0 22 0 10 0 0 3 13
Adrenocortical carcinoma 0 1 2 8 0 0 3 12
Ataxia-telangiectasia-like disorder 1 0 25 0 6 5 0 3 12
Baller-Gerold syndrome 0 23 0 4 8 0 0 12
Bifunctional peroxisomal enzyme deficiency 0 8 0 8 2 0 2 12
Brugada syndrome 1 0 7 0 6 3 0 4 12
Colorectal cancer, non-polyposis 0 7 4 1 9 0 1 12
Combined oxidative phosphorylation deficiency 0 27 0 5 6 0 1 12
Cowden syndrome 1 0 32 1 5 5 0 2 12
Cutaneous melanoma 0 17 1 11 0 0 0 12
Deafness, autosomal recessive 2; Usher syndrome, type 1 0 14 0 10 0 0 2 12
Dilated cardiomyopathy 1JJ 0 20 0 2 10 0 0 12
Dilated cardiomyopathy 1KK 0 43 0 3 9 0 3 12
Dilated cardiomyopathy 1W 0 17 0 3 9 0 0 12
Epilepsy juvenile absence; Juvenile myoclonic epilepsy 0 14 0 6 7 0 0 12
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 44 1 8 4 0 1 12
Familial cold autoinflammatory syndrome 0 12 0 5 7 0 0 12
Familial infantile myasthenia 0 12 0 7 4 0 3 12
GRACILE syndrome 0 3 1 7 0 0 4 12
Hereditary pyropoikilocytosis 0 3 0 5 7 0 0 12
Hereditary spastic paraplegia 0 7 0 7 5 0 0 12
Inclusion body myopathy 2 0 20 1 8 0 0 3 12
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 0 38 0 3 8 0 1 12
Long QT syndrome 3 0 15 0 6 1 0 5 12
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 4 0 7 0 0 5 12
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 0 9 2 9 1 0 5 12
Mitochondrial complex II deficiency 0 3 0 12 0 0 0 12
Mucopolysaccharidosis type I 0 18 0 5 3 3 1 12
Myasthenic syndrome, congenital, 8 0 10 0 7 5 0 0 12
Neuronal Ceroid-Lipofuscinosis, Recessive 0 19 0 7 5 0 0 12
Ornithine carbamoyltransferase deficiency 0 34 0 6 1 0 6 12
Osteogenesis Imperfecta, Dominant 0 9 0 11 1 0 0 12
Polycystic kidney disease, autosomal dominant 0 8 0 8 3 0 1 12
Pyridoxine-dependent epilepsy 0 21 0 3 6 0 4 12
Rigidity and multifocal seizure syndrome, lethal neonatal 0 10 0 6 3 0 3 12
Sandhoff disease 0 6 0 12 0 0 0 12
Scapuloperoneal myopathy 0 6 0 4 8 0 0 12
Short Rib Polydactyly Syndrome 0 24 0 5 6 0 1 12
Usher syndrome 0 13 0 5 1 0 6 12
Arterial tortuosity syndrome 0 19 0 6 6 0 1 11
Bardet-Biedl syndrome 1 0 12 0 7 4 0 1 11
Brainstem glioma 0 4 0 9 0 0 2 11
Carcinoma of colon 0 16 3 3 2 1 3 11
Carnitine palmitoyltransferase II deficiency 0 14 0 4 4 1 2 11
Cerebrooculofacioskeletal Syndrome 0 5 0 0 11 0 0 11
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 4 11 0 0 0 0 11
Cockayne syndrome 0 8 0 0 11 0 0 11
Distal spinal muscular atrophy, congenital nonprogressive 0 10 0 9 2 0 0 11
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 21 0 6 3 0 3 11
Frontotemporal dementia 0 29 0 7 3 0 1 11
GLUT1 deficiency syndrome 1, autosomal recessive 0 18 0 2 9 0 0 11
Gamma-aminobutyric acid transaminase deficiency 0 5 0 10 2 0 1 11
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 0 25 3 6 1 0 2 11
Glutaric aciduria, type 2 0 13 0 6 2 0 4 11
Hyperinsulinism, Dominant/Recessive 0 6 0 7 4 0 0 11
Junctional epidermolysis bullosa gravis of Herlitz 0 1 3 7 0 0 1 11
Limb-girdle muscular dystrophy, type 2F 0 11 0 1 10 0 0 11
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 0 14 0 7 2 0 2 11
Macular dystrophy 0 5 0 9 0 0 3 11
Medullary thyroid carcinoma 0 2 0 9 0 0 2 11
Medulloblastoma 0 2 2 5 1 0 3 11
Metatrophic dysplasia 0 7 0 9 2 0 0 11
Mitochondrial DNA depletion syndrome 0 20 0 7 3 0 1 11
Mucopolysaccharidosis, MPS-III-A 0 13 0 8 0 0 4 11
Multiple endocrine neoplasia, type 4 0 4 0 10 0 0 1 11
Neuroblastoma 0 3 0 9 2 0 1 11
Optic Atrophy, Dominant 0 6 0 9 2 0 1 11
Osteogenesis imperfecta type I 0 63 0 4 7 0 0 11
Parkinson disease 9 0 13 0 7 4 0 1 11
Polyglandular autoimmune syndrome, type 1 0 12 0 9 2 0 0 11
Pyogenic arthritis, pyoderma gangrenosum and acne 0 5 0 10 1 0 0 11
Pyruvate carboxylase deficiency 0 3 1 2 2 0 6 11
Rett syndrome, congenital variant 0 13 0 3 6 0 2 11
Spondylometaphyseal dysplasia 0 9 0 8 2 0 1 11
Transient Neonatal Diabetes, Dominant 0 6 0 7 4 0 0 11
Tubulinopathies 0 26 0 10 0 0 1 11
Alexander Disease 0 81 0 9 2 0 0 10
Argininosuccinate lyase deficiency 0 8 1 7 0 0 2 10
Autosomal recessive cerebellar ataxia 0 16 0 4 6 0 1 10
Brachyolmia 0 6 0 8 2 0 0 10
Colorectal adenoma 0 2 2 1 6 0 1 10
Combined oxidative phosphorylation deficiency 14 0 2 0 2 2 0 7 10
Common variable immunodeficiency 8, with autoimmunity 0 7 0 6 8 0 0 10
Cone-Rod Dystrophy, Dominant 0 15 2 1 7 0 2 10
Deficiency of alpha-mannosidase 0 7 0 9 1 0 0 10
Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 0 23 0 0 9 0 1 10
Dystonia 12 0 11 0 6 2 0 2 10
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 13 0 4 6 0 0 10
Early infantile epileptic encephalopathy 9 0 18 0 3 4 0 3 10
Enlarged vestibular aqueduct 0 6 2 6 0 0 3 10
Familial dysautonomia 0 11 0 3 7 0 1 10
Familial hypertrophic cardiomyopathy 14 0 32 0 2 8 0 0 10
Glycogen storage disease of heart, lethal congenital 0 17 0 4 6 0 0 10
Glycogen storage disease, type VI 0 5 1 6 2 0 2 10
Hypercholesterolemia, autosomal dominant, 3 0 13 0 8 3 0 1 10
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 0 27 0 2 8 0 0 10
I cell disease 0 6 4 5 1 0 1 10
Koolen-de Vries syndrome 0 6 2 7 3 0 0 10
LEOPARD syndrome 1 0 1 8 3 0 0 0 10
Lafora disease 0 18 0 4 5 0 2 10
Legius syndrome 0 6 0 7 4 0 0 10
Limb-girdle muscular dystrophy, type 2J 0 24 0 5 2 0 3 10
Majeed syndrome 0 9 1 4 7 0 0 10
Melanoma-pancreatic cancer syndrome 0 12 4 4 3 0 0 10
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 0 26 0 4 5 0 1 10
Pancreatic cancer 3 0 4 0 4 2 4 1 10
Peripheral axonal neuropathy 0 8 0 7 3 0 0 10
Persistent hyperinsulinemic hypoglycemia of infancy 0 12 0 8 0 0 2 10
Retinitis pigmentosa 25 0 16 0 6 4 0 0 10
Scapuloperoneal spinal muscular atrophy 0 9 0 8 2 0 0 10
Shprintzen-Goldberg syndrome 0 19 0 3 6 0 1 10
Tyrosinase-positive oculocutaneous albinism 0 5 0 5 0 0 6 10
Wolff-Parkinson-White pattern 0 10 0 2 1 0 7 10
short QT syndrome 0 8 0 4 6 0 0 10
Andersen Tawil syndrome; Short QT syndrome 3 0 6 0 1 3 0 5 9
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 25 0 5 5 0 0 9
Atrial septal defect 0 12 0 4 5 0 0 9
Benign familial neonatal seizures 0 10 0 2 7 0 0 9
Benign familial neonatal seizures 1 0 17 0 7 0 0 3 9
Brain small vessel disease with hemorrhage 0 4 0 5 4 0 0 9
Breast carcinoma 0 5 8 1 1 0 0 9
Breast-ovarian cancer, familial 3 0 17 0 5 2 3 0 9
Cardiac arrhythmia 0 12 0 4 4 0 2 9
Catecholaminergic polymorphic ventricular tachycardia type 1 0 10 1 1 4 0 3 9
Ceroid lipofuscinosis neuronal 5 0 6 3 5 2 0 1 9
Charcot-Marie-Tooth disease type 2C 0 30 0 7 3 0 0 9
Charcot-Marie-Tooth disease, type 4A 0 9 1 2 3 0 3 9
Chromosome 9q deletion syndrome 0 14 0 3 6 0 0 9
Congenital bilateral absence of the vas deferens 0 2 0 2 0 0 8 9
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 0 28 0 0 8 0 1 9
Costello syndrome 0 21 0 3 4 0 2 9
Cutaneous malignant melanoma 2 0 2 0 0 2 7 0 9
Danon disease 0 10 0 7 2 0 0 9
Deafness, autosomal dominant 3a 0 22 0 8 0 0 1 9
Early infantile epileptic encephalopathy 7 0 26 0 6 0 0 3 9
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 15 0 5 4 0 0 9
Familial atrial fibrillation 0 11 0 5 4 0 0 9
Familial cancer of breast; Ataxia-telangiectasia syndrome 0 75 0 4 5 0 0 9
Familial hypokalemia-hypomagnesemia 0 8 1 5 0 0 4 9
Familial multiple polyposis syndrome 0 8 2 2 7 1 0 9
Familial platelet disorder with associated myeloid malignancy 0 12 0 7 1 0 1 9
Generalized epilepsy and paroxysmal dyskinesia 0 8 0 4 5 0 1 9
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 0 2 0 5 4 0 0 9
Hystrix-like ichthyosis with deafness 0 7 0 4 4 0 2 9
Infantile cortical hyperostosis 0 8 1 8 0 0 0 9
Keratitis-Ichthyosis-Deafness Syndrome 0 6 0 4 4 0 2 9
Lethal multiple pterygium syndrome 0 8 0 3 6 0 0 9
Long QT syndrome 11 0 6 0 3 6 0 1 9
MYH9-related disorder 0 1 0 0 9 0 0 9
Maturity onset diabetes mellitus in young 0 8 0 8 1 0 0 9
Maturity-onset diabetes of the young, type 2 0 19 1 7 1 0 0 9
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 27 0 6 2 0 1 9
Multiple Epiphyseal Dysplasia, Dominant 0 12 0 6 3 0 0 9
Multiple cutaneous leiomyomas 0 28 0 4 1 0 4 9
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 0 13 0 3 6 0 0 9
Myofibrillar myopathy 1 0 21 0 5 3 0 1 9
Myofibrillar myopathy, ZASP-related 0 31 0 4 5 0 1 9
Nasopharyngeal Neoplasms 0 0 0 7 0 1 1 9
Niemann-Pick disease, type A 0 19 0 8 1 0 0 9
Niemann-Pick disease, type C 0 19 0 4 3 0 2 9
Nonaka myopathy 0 13 2 2 3 0 2 9
Osteogenesis imperfecta 0 7 1 5 2 0 1 9
Perrault syndrome 0 7 0 7 2 0 0 9
Porencephalic cyst 0 5 0 5 4 0 0 9
Robinow syndrome 0 2 0 0 9 0 0 9
Rubinstein-Taybi syndrome 1 0 12 0 4 4 0 2 9
Sjögren-Larsson syndrome 0 5 0 8 1 0 0 9
Supravalvar aortic stenosis 0 6 0 4 4 0 1 9
Tyrosinemia type I 0 2 4 4 0 1 1 9
Abnormality of brain morphology 0 2 0 2 0 0 6 8
Acrocallosal syndrome, Schinzel type 0 5 0 3 3 0 2 8
Adams-Oliver syndrome 5 0 22 0 1 7 0 0 8
Alternating hemiplegia of childhood 0 9 0 3 5 0 0 8
Angelman syndrome 0 17 0 2 3 0 3 8
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 0 4 0 4 4 0 0 8
Brachydactyly 0 2 0 0 8 0 0 8
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 0 15 0 7 2 0 0 8
Brugada syndrome 5 0 15 0 3 6 0 0 8
Carcinoma 0 0 0 6 0 0 2 8
Cardiac arrhythmia, ankyrin B-related 0 12 0 3 2 0 3 8
Charcot-Marie-Tooth, Intermediate 0 6 0 4 4 0 0 8
Chronic infantile neurological, cutaneous and articular syndrome 0 10 0 4 4 0 0 8
Coenzyme Q10 deficiency, primary 0 6 0 4 4 0 0 8
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 12 0 3 5 0 0 8
Congenital disorder of glycosylation type 1t 0 5 0 8 0 0 0 8
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 0 9 0 2 6 0 0 8
Cryopyrin associated periodic syndrome 0 12 0 2 6 0 1 8
Deafness, autosomal recessive 77 0 10 0 4 3 0 1 8
Deafness, autosomal recessive 9 0 4 3 3 0 1 1 8
Diastrophic dysplasia 0 3 7 3 0 0 0 8
Dihydropyrimidine dehydrogenase deficiency 0 16 0 5 2 0 2 8
Donnai Barrow syndrome 0 10 0 3 5 0 0 8
Early infantile epileptic encephalopathy 11 0 2 0 5 0 0 3 8
Epileptic encephalopathy 0 19 0 5 1 0 2 8
Familial amyloid nephropathy with urticaria AND deafness 0 12 0 4 4 0 0 8
Familial dilated cardiomyopathy 0 15 0 3 4 0 1 8
Glycogen phosphorylase kinase deficiency 0 5 0 2 6 0 0 8
Glycogen storage disease, type IV 0 7 3 4 0 0 1 8
Hereditary sensory and autonomic neuropathy type II 0 10 0 1 7 0 0 8
Hirschsprung disease 0 4 1 4 2 0 2 8
Hirschsprung disease 1 0 1 0 0 3 3 2 8
Hypercholesterolaemia 0 13 0 2 2 0 4 8
Hyperinsulinism, Dominant 0 0 0 6 2 0 0 8
Hypophosphatasia 0 11 0 8 1 0 0 8
Joubert syndrome 17 0 10 0 3 2 0 4 8
Kohlschutter's syndrome 0 1 0 7 4 0 0 8
Limb-girdle muscular dystrophy, type 2L 0 11 1 7 0 0 2 8
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 0 5 0 3 5 0 0 8
Mental retardation, autosomal dominant 7 0 9 0 6 2 0 0 8
Methylmalonic aciduria cblB type 0 4 0 5 1 0 3 8
Mitochondrial complex II deficiency; Paragangliomas 5 0 14 0 4 0 0 4 8
Mitochondrial complex III deficiency 0 6 0 6 1 0 2 8
Miyoshi myopathy 0 48 0 2 4 0 2 8
Mucolipidosis type IV 0 4 0 8 0 0 0 8
Mutilating keratoderma 0 6 0 4 3 0 2 8
Neoplasm of the thyroid gland 0 5 0 7 0 0 1 8
Nephropathic cystinosis 0 6 1 4 2 0 1 8
Nephrotic syndrome 0 7 0 6 2 0 0 8
Noonan syndrome 1 0 25 1 6 1 0 1 8
Otospondylomegaepiphyseal dysplasia 0 6 0 2 6 0 0 8
Papillary renal cell carcinoma, sporadic 0 4 0 8 0 0 0 8
Pitt-Hopkins syndrome 0 10 0 5 4 0 0 8
Primary hyperoxaluria, type I 0 2 0 2 4 0 3 8
Progressive myoclonus epilepsy with ataxia 0 17 0 1 5 0 2 8
Retinitis pigmentosa 39 0 12 0 6 0 0 3 8
Severe combined immunodeficiency due to ADA deficiency 0 6 0 6 1 0 1 8
Short rib-polydactyly syndrome, Majewski type 0 10 0 4 4 0 1 8
Spastic paraplegia 4, autosomal dominant 0 17 0 6 0 0 3 8
Sphingomyelin/cholesterol lipidosis 0 10 0 5 3 0 0 8
Thanatophoric dysplasia type 1 0 0 8 0 0 0 1 8
Weissenbacher-Zweymuller syndrome 0 6 0 2 6 0 0 8
Werner syndrome 0 11 0 0 8 0 0 8
3-methylcrotonyl CoA carboxylase 2 deficiency 0 5 0 3 1 0 5 7
ATR-X syndrome 0 8 0 2 6 0 1 7
Adenoid cystic carcinoma 0 1 0 5 0 0 2 7
Alagille syndrome 1 0 21 0 1 4 0 2 7
Aortic aneurysm, familial thoracic 7 0 39 0 3 5 0 0 7
Beckwith-Wiedemann syndrome 0 18 0 2 5 0 0 7
Benign familial neonatal-infantile seizures 0 12 0 4 3 0 0 7
Beta-D-mannosidosis 0 6 0 5 2 0 0 7
Breast and Ovarian Cancer Susceptibility 0 1 0 7 0 0 0 7
Carcinoma of pancreas 0 3 0 0 7 0 0 7
Carney complex, type 1 0 6 3 2 1 0 1 7
Cerebellar ataxia infantile with progressive external ophthalmoplegia 0 0 2 6 0 0 3 7
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0 9 0 3 1 0 3 7
Cerebral cavernous malformation 0 11 0 4 2 0 1 7
Ceroid lipofuscinosis neuronal 6 0 13 1 0 1 0 5 7
Ceroid lipofuscinosis neuronal 7 0 17 1 2 3 0 2 7
Choreoacanthocytosis 0 5 0 3 4 0 0 7
Coenzyme Q10 deficiency, primary, 4 0 10 0 5 0 0 3 7
Congenital Muscular Dystrophy, LAMA2-related 0 15 0 2 5 0 0 7
Craniosynostosis 0 18 0 5 2 0 0 7
Cryptophthalmos syndrome 0 22 0 4 2 0 1 7
Cutaneous malignant melanoma 5 0 2 0 0 1 1 7 7
Dementia, Deafness, and Sensory Neuropathy 0 1 0 2 5 0 0 7
Dilated cardiomyopathy 1S 0 13 0 3 0 0 4 7
Disorders of Intracellular Cobalamin Metabolism 0 10 0 5 2 0 0 7
Early infantile epileptic encephalopathy 10 0 9 0 4 2 0 2 7
Early infantile epileptic encephalopathy 2 0 28 0 6 0 0 1 7
Eichsfeld type congenital muscular dystrophy 0 17 0 2 5 0 0 7
Epilepsy, familial focal, with variable foci 1 0 22 0 4 3 0 0 7
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 0 4 0 0 5 0 2 7
Familial hypertrophic cardiomyopathy 10 0 7 0 3 1 0 4 7
Fatal Infantile Cardioencephalomyopathy 0 7 0 5 2 0 0 7
Gaucher's disease, type 1 0 5 0 5 0 0 2 7
Glycogen storage disease type 1A 0 3 0 5 0 0 2 7
Greig cephalopolysyndactyly syndrome 0 11 0 2 4 0 1 7
Hemolytic anemia 0 0 1 5 1 0 0 7
Hyperphosphatasia with mental retardation syndrome 2 0 11 0 3 3 0 2 7
Inclusion body myopathy 3 0 7 0 1 6 0 1 7
Infantile hypophosphatasia 0 9 0 6 0 0 1 7
Intellectual disability 0 12 0 3 2 0 2 7
Isovaleryl-CoA dehydrogenase deficiency 0 4 0 3 0 0 4 7
Juvenile myoclonic epilepsy 0 6 0 1 5 0 1 7
Juvenile neuronal ceroid lipofuscinosis 0 3 1 4 0 0 2 7
Left ventricular noncompaction 1 0 8 0 2 5 0 0 7
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 0 20 0 1 6 0 0 7
Malignant Melanoma Susceptibility 0 0 0 0 1 0 7 7
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 18 0 7 0 0 0 7
Mental retardation, X-linked 98 0 7 0 5 2 0 0 7
Mental retardation, autosomal dominant 1 0 25 0 1 6 0 0 7
Mevalonic aciduria; Porokeratosis, disseminated superficial actinic 1; Hyperimmunoglobulin D with periodic fever 0 5 0 3 3 0 1 7
Mitochondrial DNA depletion syndrome 2 0 1 5 2 0 0 0 7
Motor neuron disease 0 3 0 1 1 1 4 7
Mucopolysaccharidosis, MPS-III-C 0 5 0 5 0 0 2 7
Mucopolysaccharidosis, MPS-IV-A 0 9 1 4 1 0 1 7
Muscle AMP deaminase deficiency 0 4 0 1 3 1 4 7
Navajo neurohepatopathy 0 4 4 2 0 0 1 7
Niemann-Pick disease, type B; Niemann-Pick disease, type A 0 8 0 5 2 0 0 7
Nonsyndromic Oculocutaneous Albinism 0 4 0 6 0 0 1 7
Noonan syndrome 3 0 19 0 7 0 0 0 7
Paragangliomas 4 0 12 1 4 3 0 1 7
Parkinson disease 2 0 3 0 2 4 0 3 7
Renal dysplasia and retinal aplasia 0 49 0 2 4 0 1 7
Rhizomelic chondrodysplasia punctata type 1 0 0 4 4 0 0 1 7
Rotor syndrome 0 2 0 4 1 1 1 7
Severe autosomal recessive muscular dystrophy of childhood - North African type 0 15 0 6 1 0 0 7
Short-rib thoracic dysplasia 3 with or without polydactyly 0 3 0 5 0 0 2 7
Stickler Syndrome, Recessive 0 8 0 5 2 0 0 7
Succinate-semialdehyde dehydrogenase deficiency 0 11 0 4 3 0 0 7
Tyrosinase-negative oculocutaneous albinism 0 41 0 5 0 1 1 7
Ullrich congenital muscular dystrophy 1 0 44 0 3 0 0 4 7
Vitelliform macular dystrophy type 2 0 21 0 3 2 0 2 7
Waardenburg syndrome 0 1 0 5 2 0 0 7
Aicardi Goutieres syndrome 0 5 0 3 4 0 1 6
Alzheimer disease, type 3 0 21 3 3 0 0 0 6
Arrhythmogenic right ventricular cardiomyopathy, type 5 0 16 0 1 4 0 1 6
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 6 0 3 3 0 0 6
Arteriohepatic dysplasia 0 6 0 2 3 0 1 6
Atrial fibrillation, familial, 7 0 3 0 1 3 0 2 6
Becker muscular dystrophy 0 136 0 2 3 0 1 6
Bietti crystalline corneoretinal dystrophy 0 0 2 2 1 0 3 6
Biotin-thiamine-responsive basal ganglia disease 0 9 0 1 6 0 0 6
Breast and colorectal cancer, susceptibility to 0 4 0 2 0 0 5 6
Brody myopathy 0 10 0 2 1 0 3 6
Brugada syndrome 4 0 12 0 3 4 0 1 6
CHEK2-Related Cancer Susceptibility 0 2 0 4 1 0 1 6
Camptomelic dysplasia 0 3 2 1 2 0 1 6
Capillary malformation-arteriovenous malformation 0 4 0 4 2 0 0 6
Cardiofaciocutaneous syndrome 1 0 10 0 6 0 0 0 6
Cerebral folate deficiency 0 4 0 0 6 0 1 6
Chitotriosidase deficiency 0 2 0 1 5 1 0 6
Chondroectodermal dysplasia 0 6 0 3 1 0 2 6
Chédiak-Higashi syndrome 0 8 1 5 3 0 0 6
Clopidogrel response 0 0 0 0 0 6 0 6
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 0 6 0 2 4 0 0 6
Common Variable Immune Deficiency, Dominant 0 4 0 2 3 0 3 6
Cone-rod dystrophy 3 0 12 0 6 0 0 0 6
Congenital hyperammonemia, type I 0 12 0 2 3 0 1 6
Congenital myotonia, autosomal recessive form 0 6 0 3 1 0 3 6
Cornelia de Lange syndrome 1 0 16 0 4 2 0 0 6
Creatine deficiency, X-linked 0 5 2 2 2 0 0 6
Cutis laxa, autosomal dominant 0 0 0 1 4 0 1 6
Cystinosis 0 5 0 4 2 0 0 6
D-2-hydroxyglutaric aciduria 0 9 0 5 1 0 0 6
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 0 5 0 6 0 0 0 6
Death in infancy 0 1 0 0 0 0 6 6
Deficiency of isobutyryl-CoA dehydrogenase 0 0 0 4 0 0 4 6
Deoxygalactonojirimycin response 0 0 0 0 0 6 0 6
Distal Renal Tubular Acidosis, Dominant 0 0 1 5 0 0 0 6
Early-Onset Familial Alzheimer Disease 0 3 0 6 0 0 0 6
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 0 13 0 3 3 0 0 6
Ehlers-Danlos syndrome, hydroxylysine-deficient 0 19 0 4 2 0 0 6
Emery-Dreifuss muscular dystrophy 1, X-linked 0 16 0 2 4 0 0 6
Epilepsy, hearing loss, and mental retardation syndrome 0 5 0 2 1 0 3 6
Epilepsy, progressive myoclonic 3 0 5 0 2 4 0 1 6
FG syndrome 0 8 0 0 5 0 1 6
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 6 0 6 0 0 0 6
Familial hypertrophic cardiomyopathy 9 0 25 0 6 0 0 0 6
Fanconi anemia, complementation group A 0 5 1 2 0 0 3 6
Febrile seizures, familial, 11 0 3 0 0 6 0 1 6
Glycogen storage disease IXb 0 3 0 3 2 0 1 6
Glycogen storage disease type X 0 0 0 3 2 0 1 6
Hearing impairment 0 19 0 5 1 0 0 6
Hereditary fructosuria 0 7 0 4 0 0 2 6
Hereditary hemorrhagic telangiectasia type 2 0 20 0 5 1 0 0 6
Hereditary motor and sensory neuropathy 0 3 0 3 4 0 0 6
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 0 2 0 2 3 0 1 6
Holt-Oram syndrome 0 17 0 4 2 0 0 6
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 10 0 2 4 0 0 6
Hyperlipoproteinemia, type I 0 4 0 4 1 1 0 6
Hypoglycemia with deficiency of glycogen synthetase in the liver 0 5 0 4 2 0 0 6
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 0 30 0 3 3 0 0 6
Idiopathic generalized epilepsy 0 5 0 3 3 0 0 6
Idiopathic hypereosinophilic syndrome 0 0 1 1 4 0 0 6
Inclusion body myopathy 2; Sialuria 0 18 0 3 2 0 1 6
Isolated Nonsyndromic Congenital Heart Disease 0 5 0 2 3 0 1 6
Joubert syndrome 9 0 8 0 3 0 0 3 6
Keratoconus 1 0 0 0 1 1 0 5 6
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 0 3 2 2 2 0 0 6
Leukoencephalopathy with vanishing white matter 0 10 0 4 0 0 2 6
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 0 17 0 3 3 0 0 6
Liver failure acute infantile 0 10 0 5 1 0 0 6
Mandibuloacral dysplasia 0 12 0 3 3 0 1 6
Mental retardation, X-linked 1 0 6 0 1 4 0 1 6
Metaphyseal chondrodysplasia, McKusick type 0 0 1 2 0 0 3 6
Methylmalonic acidemia with homocystinuria 0 16 0 3 2 0 1 6
Mitochondrial myopathy and sideroblastic anemia 0 1 0 3 3 0 0 6
Mucolipidosis, Type III Alpha/Beta 0 6 0 5 1 0 0 6
Muscle eye brain disease 0 1 0 6 0 0 0 6
Muscular Diseases 0 9 0 2 1 0 3 6
Myhre syndrome 0 4 0 3 3 0 0 6
Neuroblastoma Susceptibility 0 13 0 6 0 0 0 6
Pallister-Hall syndrome 0 8 0 2 4 0 0 6
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 0 11 2 1 1 0 3 6
Parkinson disease 9; Spastic paraplegia 78, autosomal recessive 0 11 0 2 3 0 1 6
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 0 15 0 1 5 0 0 6
Perry syndrome 0 0 0 5 2 0 0 6
Phytanic acid storage disease 0 14 0 5 1 0 1 6
Pigmentary pallidal degeneration 0 4 0 5 1 0 1 6
Polydactyly 0 8 0 2 4 0 0 6
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 17 0 5 1 0 0 6
Pseudohypoaldosteronism type 1 autosomal recessive 0 10 0 5 1 0 0 6
Pseudoprimary hyperaldosteronism 0 11 0 5 1 0 0 6
Rhizomelic chondrodysplasia punctata 0 10 0 3 3 0 0 6
Salla disease 0 3 2 5 0 0 0 6
Salt and pepper developmental regression syndrome 0 3 0 2 5 0 0 6
SeSAME syndrome 0 9 0 1 4 0 1 6
Segawa syndrome, autosomal recessive 0 8 1 5 1 0 0 6
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 5 0 0 3 0 3 6
Spinocerebellar ataxia 19 0 1 0 2 2 0 2 6
Sudden cardiac death 0 3 0 1 4 0 1 6
Three M syndrome 0 9 0 2 4 0 0 6
Transcobalamin II deficiency 0 0 0 3 2 0 1 6
Treacher Collins syndrome 1 0 5 0 4 2 0 0 6
Tumor susceptibility linked to germline BAP1 mutations 0 12 0 1 5 0 0 6
WFS1-Related Disorders 0 2 0 3 0 0 3 6
Wilms tumor 1 0 9 1 2 4 0 0 6
X-linked hereditary motor and sensory neuropathy 0 8 4 2 0 0 0 6
3 Methylcrotonyl-CoA carboxylase 1 deficiency 0 16 0 3 0 0 2 5
ABCA4-Related Disorders 0 16 0 1 0 0 4 5
Achondrogenesis 0 11 0 3 2 0 0 5
Acute intermittent porphyria 0 4 0 2 2 0 2 5
Aicardi Goutieres syndrome 2 0 1 0 4 1 0 1 5
Alpha-methylacyl-CoA racemase deficiency 0 5 0 4 1 0 0 5
Amyotrophic Lateral Sclerosis, Recessive 0 4 0 3 2 0 0 5
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 0 16 1 3 3 0 0 5
Aplastic anemia 0 1 0 0 1 0 4 5
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 5 0 1 1 0 3 5
Astrocytoma 0 0 0 3 0 0 2 5
Benign Neonatal Epilepsy 0 1 0 2 3 0 0 5
Bladder carcinoma 0 0 0 5 0 0 0 5
Bronchiectasis with or without elevated sweat chloride 1 0 2 0 4 1 0 2 5
Cardiac arrest 0 5 0 2 2 0 1 5
Carnitine palmitoyltransferase I deficiency 0 1 2 1 0 0 3 5
Ceroid lipofuscinosis neuronal 8 0 3 0 1 2 0 2 5
Charcot-Marie-Tooth disease 0 16 0 1 0 0 5 5
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 11 2 2 0 0 2 5
Charcot-Marie-Tooth disease, dominant intermediate B 0 15 0 3 2 0 0 5
Citalopram response 0 0 0 0 0 5 0 5
Colorectal cancer 0 19 0 2 2 0 2 5
Combined oxidative phosphorylation deficiency 17 0 9 0 1 4 0 2 5
Common variable immunodeficiency 2 0 9 0 4 1 1 3 5
Congenital Stationary Night Blindness, Dominant 0 4 1 0 4 0 0 5
Congenital generalized lipodystrophy 0 5 0 2 3 0 0 5
Congenital muscular dystrophy, LMNA-related 0 13 0 3 3 0 0 5
Congenital myopathy with fiber type disproportion 0 11 4 1 0 0 2 5
Cowden syndrome 0 6 2 1 3 0 0 5
Crohn disease 0 2 0 0 5 0 0 5
Curry-Hall syndrome 0 7 0 1 4 0 0 5
Cutaneous malignant melanoma 3 0 8 0 1 3 1 0 5
Deafness, autosomal recessive 3 0 5 0 2 0 0 3 5
Debrisoquine, poor metabolism of 0 0 0 0 0 5 0 5
Deficiency of acetyl-CoA acetyltransferase 0 3 0 5 0 0 0 5
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 35 0 1 4 0 0 5
Dilated cardiomyopathy 1N; Primary familial hypertrophic cardiomyopathy 0 16 0 1 4 0 0 5
Distal hereditary motor neuronopathy 0 4 0 4 1 0 0 5
Dubin-Johnson syndrome 0 15 0 2 1 0 3 5
Dyskeratosis congenita X-linked 0 1 2 1 0 0 2 5
Dystonia 0 12 0 0 5 0 0 5
Early infantile epileptic encephalopathy 13 0 5 0 3 0 0 3 5
Ehlers-Danlos syndrome, type vii, autosomal recessive 0 21 0 2 4 0 0 5
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 3 0 2 1 0 2 5
Escitalopram response 0 0 0 0 0 5 0 5
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 4 0 5 0 0 0 5
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 0 6 0 1 1 0 4 5
Familial hypertrophic cardiomyopathy 8 0 4 0 2 0 0 4 5
Familial partial lipodystrophy 0 8 0 3 3 0 0 5
Familial restrictive cardiomyopathy 0 3 0 4 1 0 0 5
Fucosidosis 0 3 0 4 1 0 0 5
GM1 gangliosidosis 0 6 0 5 0 0 0 5
Gastrointestinal stroma tumor; Paragangliomas 3 0 8 0 1 1 0 3 5
Giant axonal neuropathy 0 1 0 3 1 0 2 5
Gingival fibromatosis 0 3 0 1 4 0 0 5
Glucose-6-phosphate transport defect 0 18 0 2 3 0 1 5
Glycogen storage disease, type VII 0 5 0 4 2 0 0 5
Hajdu-Cheney syndrome 0 8 0 2 3 0 0 5
Hearing loss 0 19 0 4 0 0 1 5
Hereditary Multiple Osteochondromatosis 0 3 0 1 4 0 0 5
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 0 1 0 2 3 0 0 5
Hereditary factor XI deficiency disease 0 13 0 4 0 0 2 5
Hereditary sensory neuropathy type IE 0 12 0 2 3 0 0 5
Hutchinson-Gilford syndrome 0 15 0 3 3 0 0 5
Hyperimmunoglobulin D with periodic fever 0 13 0 4 1 0 0 5
Hyperparathyroidism 0 0 1 2 2 0 0 5
Hyperphosphatasia-intellectual disability syndrome 0 7 0 2 3 0 0 5
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 3 0 1 2 0 2 5
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 0 6 0 1 3 0 1 5
Intellectual Disability, Recessive 0 5 0 0 5 0 0 5
Joubert syndrome 3 0 6 1 4 0 0 2 5
Joubert syndrome; Oral-facial-digital syndrome 0 1 0 1 3 0 1 5
Leber congenital amaurosis 4 0 6 1 2 1 0 2 5
Leber's optic atrophy 0 2 3 1 0 0 2 5
Leprechaunism syndrome 0 10 0 0 4 0 1 5
Lethal tight skin contracture syndrome 0 20 0 3 3 0 0 5
Limb-Girdle Muscular Dystrophy, Dominant 0 13 0 5 0 0 0 5
Limb-girdle muscular dystrophy, type 2E 0 13 0 4 0 0 1 5
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 6 0 3 3 0 0 5
Loeys-Dietz syndrome 1 0 6 0 2 3 0 0 5
Loeys-Dietz syndrome 4 0 12 0 5 1 0 0 5
MUTYH-associated polyposis 0 15 0 5 0 0 0 5
Malignant tumor of prostate 0 3 0 0 1 0 4 5
Maple syrup urine disease, type 3 0 5 0 4 0 0 1 5
Meckel syndrome type 6 0 1 0 5 0 0 0 5
Mental retardation, autosomal dominant 9 0 3 0 3 1 0 1 5
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 0 9 0 4 1 0 1 5
Mitochondrial trifunctional protein deficiency 0 8 0 4 1 0 0 5
Miyoshi muscular dystrophy 1 0 47 0 3 0 0 2 5
Mucopolysaccharidosis, MPS-III-B 0 8 0 4 1 0 0 5
Multiple gastrointestinal atresias 0 1 0 3 2 0 0 5
Myasthenic syndrome, congenital, 2a, slow-channel 0 0 0 2 1 0 2 5
Neurofibromatosis, type 2 0 7 1 2 2 0 0 5
Neurologic Disorders/Seipinopathy 0 4 0 2 3 0 0 5
Nonsyndromic Hearing Loss, Mixed 0 11 0 1 4 0 0 5
Obesity 0 2 0 4 1 2 1 5
Osteogenesis imperfecta type 8 0 7 0 1 4 0 0 5
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 0 2 0 4 0 0 2 5
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 0 17 0 4 1 0 1 5
Polycystic kidney disease, adult type 0 38 0 1 2 0 2 5
Primary Microcephaly 2 With or Without Cortical Malformations 0 13 0 1 4 0 0 5
Primary autosomal recessive microcephaly 1 0 9 0 2 0 0 3 5
Pseudohypoaldosteronism, type 2 0 6 0 0 5 0 0 5
Pseudoneonatal adrenoleukodystrophy 0 2 0 3 2 0 0 5
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 0 2 0 2 3 0 1 5
Sertraline response 0 0 0 0 0 5 0 5
Severe combined immunodeficiency with sensitivity to ionizing radiation 0 3 0 2 1 0 2 5
Short-rib polydactyly syndrome type III 0 4 0 4 0 0 1 5
Shwachman syndrome 0 0 4 1 0 0 0 5
Sialuria 0 13 0 1 3 0 1 5
Spastic paraplegia 3 0 5 2 2 0 0 1 5
Spastic paraplegia 39 0 5 0 2 2 0 1 5
TNF receptor-associated periodic fever syndrome (TRAPS) 0 13 0 3 1 0 3 5
Tatton-Brown-rahman syndrome 0 1 0 1 1 0 3 5
Tetralogy of Fallot 0 2 0 0 1 0 4 5
Tietz syndrome 0 0 0 4 1 0 0 5
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 0 23 2 2 0 0 1 5
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 0 27 1 3 1 0 0 5
Type II Collagenopathies 0 5 0 3 2 0 0 5
UDPglucose-4-epimerase deficiency 0 2 3 1 0 2 0 5
Vitreoretinochoroidopathy 0 9 0 2 2 0 1 5
Voriconazole response 0 0 0 0 0 5 0 5
3-Methylglutaconic aciduria type 1 0 5 0 3 1 0 0 4
ANKRD1-related dilated cardiomyopathy 0 12 0 2 2 0 0 4
Achromatopsia 3 0 2 1 2 0 0 1 4
Amish lethal microcephaly 0 2 0 3 1 0 0 4
Amyotrophic lateral sclerosis type 1; Perry syndrome; Distal hereditary motor neuronopathy type 7B 0 11 1 0 4 0 0 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 11 0 2 1 0 2 4
Anophthalmia - microphthalmia 0 1 0 0 3 0 1 4
Aortic aneurysm, familial thoracic 6 0 13 0 4 0 0 0 4
Aspartylglucosaminuria 0 2 0 3 1 0 1 4
Ataxia, spastic, 2, autosomal recessive 0 0 0 0 4 0 1 4
Atrial fibrillation, familial, 10 0 1 0 1 0 0 3 4
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 0 2 1 2 1 0 0 4
Autosomal recessive centronuclear myopathy 0 6 0 1 2 0 1 4
Baraitser-Winter syndrome 1 0 8 0 4 0 0 0 4
Bardet-Biedl syndrome 10 0 9 0 3 1 0 0 4
Bardet-Biedl syndrome 12 0 3 0 1 1 0 2 4
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 7 0 3 0 0 1 4
Benign familial neonatal seizures 2 0 4 0 2 0 0 2 4
Blau syndrome 0 3 0 0 4 0 0 4
Blau syndrome; Inflammatory bowel disease 1 0 3 0 0 3 1 0 4
Brown-Vialetto-Van Laere syndrome 1 0 2 0 1 0 0 3 4
Brown-Vialetto-Van Laere syndrome 2 0 5 0 4 0 0 1 4
CYP2C19: no function 0 0 0 0 0 4 0 4
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 0 4 0 0 3 0 1 4
Centronuclear Myopathy, Dominant 0 3 0 2 2 0 0 4
Cerebral creatine deficiency syndrome 0 10 0 0 3 0 1 4
Ceroid lipofuscinosis neuronal 10 0 6 0 4 0 0 0 4
Charcot-Marie-Tooth disease type 2E 0 18 0 3 1 0 0 4
Charcot-Marie-Tooth disease, type 2A2A 0 9 0 2 0 0 2 4
Charcot-Marie-Tooth disease, type 4C 0 1 2 2 0 0 1 4
Cholecystitis 0 2 0 1 0 0 3 4
Christianson syndrome 0 1 0 2 2 0 0 4
Ciliary dyskinesia, primary, 3 0 7 1 1 0 0 2 4
Citrullinemia type II 0 2 2 0 0 0 2 4
Cockayne syndrome type A 0 2 0 3 0 0 2 4
Coenzyme Q10 deficiency, primary, 7 0 1 0 2 0 0 2 4
Coffin-Siris syndrome 0 3 0 4 0 0 0 4
Colorectal cancer, susceptibility to 0 6 1 0 1 2 0 4
Combined Pituitary Hormone Deficiency, Recessive 0 4 0 4 0 0 0 4
Combined oxidative phosphorylation deficiency 10 0 3 0 3 1 0 0 4
Combined oxidative phosphorylation deficiency 12 0 0 0 4 0 0 0 4
Common variable immunodeficiency 7 0 3 0 1 2 0 1 4
Cone-rod dystrophy 15 0 1 0 0 3 0 1 4
Cone/cone-rod dystrophy 0 5 0 0 0 0 4 4
Congenital Muscular Dystrophy, ITGA7-related 0 8 0 0 4 0 0 4
Congenital adrenal hyperplasia 0 9 1 2 2 0 0 4
Congenital disorder of glycosylation type 1K 0 2 0 3 0 0 1 4
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 11 0 1 3 0 0 4
Cranioectodermal dysplasia 0 12 0 1 2 0 1 4
Cutis laxa, recessive 0 14 0 2 2 0 0 4
Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant 0 1 0 4 0 0 0 4
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 0 2 0 3 0 0 1 4
Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome 0 1 0 2 2 0 0 4
Deafness, autosomal recessive 12 0 1 0 1 0 0 3 4
Deficiency of ferroxidase 0 2 1 0 1 0 2 4
Deficiency of hydroxymethylglutaryl-CoA lyase 0 3 0 2 0 0 2 4
Deficiency of steroid 11-beta-monooxygenase 0 6 0 3 1 0 0 4
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 0 19 3 1 0 0 0 4
Diabetes mellitus AND insipidus with optic atrophy AND deafness 0 1 0 2 1 0 1 4
Diabetes mellitus type 2 0 3 0 0 2 1 1 4
Dilated cardiomyopathy 0 6 0 1 1 0 2 4
Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 0 4 0 0 4 0 0 4
Dyskeratosis congenita 0 6 0 3 0 0 1 4
Dyskeratosis congenita autosomal dominant 0 0 3 1 0 0 1 4
Dyskeratosis congenita, autosomal recessive, 5 0 0 0 2 0 0 2 4
Dystonia 10 0 11 0 2 2 0 1 4
Dystonia 5, Dopa-responsive type; GTP cyclohydrolase I deficiency 0 1 0 1 1 0 2 4
Ehlers-Danlos syndrome, procollagen proteinase deficient 0 3 0 3 1 0 0 4
Encephalopathy, acute, infection-induced, 3, suceptibility to 0 4 0 2 2 0 0 4
Enhanced s-cone syndrome 0 0 0 4 0 0 0 4
Enlarged vestibular aqueduct; Pendred syndrome 0 19 0 2 0 0 2 4
Epilepsy, nocturnal frontal lobe, type 3 0 2 0 2 1 0 1 4
Epileptic encephalopathy, early infantile, 23 0 8 0 3 1 0 0 4
Epileptic encephalopathy, early infantile, 26 0 9 0 2 1 0 1 4
Epileptic encephalopathy, early infantile, 36 0 9 0 0 4 0 0 4
Episodic ataxia 0 5 0 1 3 0 0 4
Episodic ataxia type 2 0 4 0 2 0 0 2 4
FLNB-Related Spectrum Disorders 0 5 0 4 0 0 0 4
Familial High Density Lipoprotein Deficiency 0 2 0 3 1 0 0 4
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 0 32 0 1 2 0 1 4
Familial hemophagocytic lymphohistiocytosis 0 2 0 3 1 0 1 4
Familial hypertrophic cardiomyopathy 7 0 3 0 2 0 1 1 4
Familial medullary thyroid carcinoma 0 15 1 0 0 0 3 4
Floating-Harbor syndrome 0 7 2 1 1 0 0 4
Focal epilepsy 0 2 0 2 1 0 2 4
Frontotemporal dementia, ubiquitin-positive 0 12 1 3 1 0 0 4
Fukuyama congenital muscular dystrophy 0 8 0 3 1 0 0 4
Galactosemia 0 0 0 4 0 2 1 4
Glycogen storage disease type 13 0 2 0 3 0 0 1 4
Greenberg dysplasia 0 3 0 1 3 0 0 4
Histiocytic medullary reticulosis 0 3 0 3 0 0 1 4
Holoprosencephaly 3 0 1 1 0 2 0 1 4
Hypercholesterolemia, autosomal recessive 0 1 0 1 2 0 1 4
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 0 3 0 2 2 0 0 4
Hypohidrotic X-linked ectodermal dysplasia 0 8 0 2 0 0 2 4
Hypokalemic periodic paralysis 1 0 0 4 0 0 0 0 4
Hypomyelination, global cerebral 0 2 0 1 3 0 0 4
Idiopathic fibrosing alveolitis, chronic form 0 2 2 1 1 0 0 4
Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 0 6 0 3 0 0 2 4
Infantile neuroaxonal dystrophy 0 11 0 1 2 0 1 4
Infantile-onset ascending hereditary spastic paralysis 0 2 0 3 1 0 0 4
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 10 0 0 4 0 0 4
Iron accumulation in brain 0 9 0 3 0 0 1 4
Joubert syndrome 2 0 0 1 2 0 0 1 4
KAT6B-Related Spectrum Disorders 0 2 0 4 0 0 0 4
KBG syndrome 0 10 0 3 0 0 1 4
Leber congenital amaurosis 10 0 9 1 1 1 0 1 4
Leukoencephalopathy with ataxia 0 3 0 1 3 0 0 4
Limb-girdle muscular dystrophy, type 1E 0 9 0 1 3 0 0 4
Limb-girdle muscular dystrophy, type 1F 0 3 0 0 4 0 0 4
Lissencephaly 1 0 7 4 0 0 0 0 4
Lissencephaly 3 0 6 0 2 0 0 2 4
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 4 0 4
Malignant hypothermia 0 5 0 1 2 0 1 4
Maturity-onset diabetes of the young, type 1 0 2 1 0 1 0 2 4
Meckel syndrome type 1 0 0 0 1 0 0 3 4
Meckel syndrome type 4 0 16 0 3 0 0 1 4
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 3 2 2 0 0 1 4
Megaloblastic anemia 0 8 0 2 2 0 0 4
Mental retardation, CASK-related, X-linked 0 3 0 0 4 0 0 4
Mental retardation, autosomal dominant 6 0 2 0 3 0 0 1 4
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 17 0 0 2 0 2 4
Mephenytoin, poor metabolism of 0 0 0 0 0 4 0 4
Methylmalonic acidemia 0 19 0 3 1 0 0 4
Mevalonic aciduria 0 3 0 3 1 0 0 4
Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 2 0 3 0 0 3 4
Mitochondrial complex I deficiency, nuclear type 1 0 6 0 3 0 0 1 4
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0 2 0 3 0 0 1 4
Mucolipidosis III Gamma 0 2 1 1 1 0 1 4
Mulibrey nanism syndrome 0 1 1 2 2 0 0 4
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 11 0 2 0 0 2 4
Multiple epiphyseal dysplasia 4 0 7 0 4 0 0 0 4
Multiple sulfatase deficiency 0 3 0 4 0 0 1 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 4 0 2 2 0 0 4
Myofibrillar myopathy 0 5 0 2 1 0 1 4
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT 0 0 0 0 0 0 4 4
Nemaline myopathy 10 0 1 0 0 1 0 3 4
Neonatal pseudo-hydrocephalic progeroid syndrome 0 2 0 4 0 0 0 4
Neoplasm of stomach 0 4 1 0 1 0 3 4
Netherton syndrome 0 3 0 2 3 0 0 4
Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 0 0 0 1 2 0 1 4
Nocturnal frontal lobe epilepsy 0 3 0 1 4 0 0 4
Non-small cell lung cancer 0 13 0 3 0 0 1 4
Non-syndromic X-linked intellectual disability 0 4 0 2 3 0 0 4
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 0 3 0 3 0 0 1 4
Oculocutaneous albinism 0 9 0 2 1 0 1 4
Odontoonychodermal dysplasia 0 4 0 0 1 0 3 4
Paragangliomas 5 0 6 0 3 1 0 1 4
Parkinson Disease, Recessive 0 1 0 2 2 0 0 4
Parkinson disease, late-onset 0 2 0 0 1 3 0 4
Paroxysmal familial ventricular fibrillation 1 0 2 0 2 0 0 2 4
Peroxisome biogenesis disorder 1B 0 3 0 4 0 0 0 4
Pfeiffer syndrome 0 8 0 4 0 0 0 4
Pigmentary retinal dystrophy 0 4 1 0 3 0 0 4
Pineal hyperplasia AND diabetes mellitus syndrome 0 9 0 0 4 0 0 4
Pitt-Hopkins-like syndrome 0 17 0 2 2 0 0 4
Polyglucosan body disease, adult 0 4 0 4 0 0 0 4
Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 0 0 0 1 3 0 0 4
Prostate cancer, somatic 0 1 0 0 0 0 4 4
Pyridoxal 5'-phosphate-dependent epilepsy 0 7 0 2 1 0 1 4
Renal-hepatic-pancreatic dysplasia 0 13 0 3 1 0 0 4
Rhabdoid tumor predisposition syndrome 1 0 2 0 1 3 0 0 4
SALL4-Related Spectrum Disorders 0 2 0 0 4 0 0 4
Scapuloperoneal weakness 0 6 0 1 3 0 0 4
Schopf-Schulz-Passarge syndrome 0 2 0 0 1 0 3 4
Selective tooth agenesis 0 1 0 0 1 0 3 4
Severe Combined Immune Deficiency 0 2 0 3 1 0 0 4
Severe combined immunodeficiency disease 0 5 0 4 0 0 0 4
Sideroblastic Anemia and Ataxia 0 2 0 3 1 0 0 4
Sitosterolemia 0 16 0 2 0 0 2 4
Sotos syndrome 1 0 34 0 3 0 0 1 4
Spastic paraplegia 10 0 1 0 3 0 0 1 4
Spinal muscular atrophy 0 13 0 1 3 0 0 4
Spontaneous pneumothorax 0 7 1 0 3 0 0 4
Sucrase-isomaltase deficiency 0 1 0 1 0 0 3 4
Syndactyly Cenani Lenz type; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 0 6 0 0 4 0 0 4
Syndromic intellectual disability 0 14 0 4 0 0 0 4
Tangier disease 0 2 0 3 1 0 0 4
Total anomalous pulmonary venous return 0 1 0 4 1 0 0 4
Treacher Collins Syndrome, Dominant 0 4 0 4 0 0 0 4
Usher syndrome, type 1C; Deafness, autosomal recessive 18 0 5 1 1 2 0 0 4
Vici syndrome 0 3 0 2 2 0 0 4
Walker-Warburg Syndrome 0 4 0 1 3 0 0 4
Wilms Tumor 0 3 0 2 1 1 0 4
Wolff-Parkinson-White syndrome 0 3 0 4 0 0 0 4
ALS2-Related Disorders 0 3 0 1 2 0 0 3
Abnormality of the eye 0 3 0 1 0 0 2 3
Age-related macular degeneration 3 0 0 0 1 0 0 2 3
Aicardi Goutieres syndrome 1 0 3 0 2 0 0 1 3
Alagille syndrome 2 0 0 1 0 0 0 2 3
Alpha-B crystallinopathy 0 0 1 1 2 0 0 3
Alport syndrome 3, autosomal dominant 0 4 0 1 0 0 2 3
Amyotrophic lateral sclerosis type 10 0 2 0 2 0 0 1 3
Angiokeratoma corporis diffusum with arteriovenous fistulas 0 5 0 1 2 0 0 3
Antenatal Bartter Syndrome 0 0 1 2 0 0 0 3
Arthrogryposis multiplex congenita 0 6 0 2 1 0 0 3
Atrial fibrillation, familial, 13 0 1 0 1 1 0 1 3
Atrioventricular septal defect 2 0 0 0 0 1 2 0 3
Atypical Rett syndrome 0 11 0 3 0 0 0 3
Autosomal recessive congenital ichthyosis 2 0 2 0 2 0 0 1 3
Autosomal recessive congenital ichthyosis 5 0 4 0 0 0 0 3 3
Autosomal recessive cutis laxa type 1B 0 6 0 3 1 0 0 3
Autosomal recessive hypophosphatemic bone disease 0 1 0 3 0 0 0 3
Axenfeld-Rieger syndrome type 3 0 2 0 1 0 0 2 3
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 6 0 1 0 0 2 3
Bile acid synthesis defect, congenital, 2 0 0 0 1 0 0 3 3
Branchiootorenal Spectrum Disorders 0 4 0 0 3 0 0 3
Breast cancer, early-onset 0 2 0 2 0 0 1 3
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 0 29 0 2 0 0 1 3
Brugada syndrome 6 0 1 0 1 1 0 2 3
Brugada syndrome 9 0 1 0 2 0 0 1 3
C-like syndrome 0 4 0 2 0 0 1 3
CEP290-Related Disorders 0 0 0 2 0 0 1 3
Cancer of the pancreas 0 8 1 0 3 0 0 3
Cardiac conduction defect, nonspecific 0 4 0 1 1 0 1 3
Cardiofaciocutaneous syndrome 1; Lung cancer; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 0 3 0 3 0 0 0 3
Carnitine palmitoyltransferase II deficiency, infantile 0 5 0 3 0 0 0 3
Caveolinopathy 0 7 0 3 0 0 0 3
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome; Infantile myofibromatosis 2 0 4 0 3 0 0 0 3
Charcot-Marie-Tooth disease type 2F 0 5 0 2 1 0 0 3
Charcot-Marie-Tooth disease, dominant intermediate C 0 1 0 0 3 0 0 3
Charcot-Marie-Tooth disease, type 2N 0 0 0 2 1 0 0 3
Cholestasis, intrahepatic, of pregnancy 3 0 0 0 1 0 0 2 3
Coenzyme Q10 deficiency, Oculomotor Apraxia Type 0 1 0 0 2 0 1 3
Coffin-Siris syndrome 1 0 10 0 3 0 0 0 3
Colon cancer 0 2 1 1 1 0 1 3
Combined deficiency of sialidase AND beta galactosidase 0 5 0 2 1 0 0 3
Combined oxidative phosphorylation deficiency 24 0 0 0 3 0 0 0 3
Combined oxidative phosphorylation deficiency 3 0 0 0 2 0 0 1 3
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 0 16 0 3 0 0 0 3
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 0 7 2 1 0 0 0 3
Congenital disorder of glycosylation type 1M 0 5 0 1 2 0 0 3
Congenital heart disease 0 0 0 0 1 0 2 3
Congenital ichthyosiform erythroderma 0 5 0 3 0 0 0 3
Congenital muscular dystrophy due to partial LAMA2 deficiency 0 1 0 1 0 0 2 3
Congenital myasthenic syndrome 0 7 0 1 0 0 2 3
Congenital myopathy 0 4 0 0 1 0 2 3
Corneal Dystrophy, Recessive 0 1 0 1 1 0 1 3
Cornelia de Lange syndrome 3 0 0 0 2 1 0 0 3
Cutis Laxa, Dominant/Recessive 0 0 0 0 3 0 0 3
Cutis laxa-corneal clouding-oligophrenia syndrome; Spastic paraplegia 9; Cutis laxa, autosomal dominant 3 0 0 0 1 1 0 1 3
Deafness, autosomal dominant 12 0 3 0 1 0 0 2 3
Deficiency of hyaluronoglucosaminidase 0 0 0 2 1 0 0 3
Delta-sarcoglycanopathy 0 1 0 0 3 0 0 3
Dermatitis, atopic, 2, susceptibility to 0 0 0 0 0 3 0 3
Dilated cardiomyopathy 1C 0 0 0 1 1 0 2 3
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 69 0 2 0 0 1 3
Dilated cardiomyopathy 1II 0 1 0 1 2 0 1 3
Dilated cardiomyopathy 1J 0 7 0 0 3 0 0 3
Dilated cardiomyopathy 1O 0 13 0 2 1 0 0 3
Dominant hereditary optic atrophy 0 12 0 2 0 0 2 3
Ductal breast carcinoma 0 1 0 0 2 0 1 3
Dystrophic epidermolysis bullosa 0 3 0 2 1 0 0 3
Early infantile epileptic encephalopathy 14 0 5 0 2 0 0 1 3
Early infantile epileptic encephalopathy 4 0 11 0 3 0 0 0 3
Early infantile epileptic encephalopathy 8 0 2 0 1 2 0 0 3
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 0 1 0 1 2 0 0 3
Ehlers-Danlos syndrome, musculocontractural type 0 2 0 1 2 0 0 3
Elliptocytosis 2 0 2 0 2 0 0 1 3
Encephalopathy, familial, with neuroserpin inclusion bodies 0 0 0 3 0 0 0 3
Endometrial carcinoma 0 7 0 1 1 0 2 3
Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 0 22 1 1 1 0 0 3
Enhanced s-cone syndrome; Retinitis pigmentosa 37 0 2 1 2 0 0 0 3
Epidermolysis bullosa herpetiformis, Dowling-Meara 0 9 3 0 0 0 0 3
Epilepsy 0 7 0 1 1 0 1 3
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 0 9 0 1 2 0 2 3
Epilepsy, familial temporal lobe, 5 0 0 0 0 0 0 3 3
Epilepsy, idiopathic generalized, susceptibility to, 12 0 4 0 1 0 2 0 3
Epilepsy, lateral temporal lobe, autosomal dominant 0 3 0 0 3 0 0 3
Epileptic encephalopathy, early infantile, 19 0 0 0 1 0 0 2 3
FGFR2 related craniosynostosis 0 10 0 3 0 0 0 3
Facioscapulohumeral muscular dystrophy 2 0 10 0 0 3 0 0 3
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 19 0 2 0 0 1 3
Familial hemiplegic migraine type 2 0 0 0 1 0 0 2 3
Familial hypertrophic cardiomyopathy 19 0 9 0 2 1 0 0 3
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 9 0 2 1 0 0 3
Familial hypertrophic cardiomyopathy 2 0 7 0 3 0 0 1 3
Familial hypocalciuric hypercalcemia 0 6 0 1 3 0 0 3
Familial hypoplastic, glomerulocystic kidney 0 2 1 0 2 0 0 3
Familial partial lipodystrophy 2 0 16 0 2 0 0 2 3
Farber disease 0 6 0 3 0 0 0 3
Focal segmental glomerulosclerosis 0 11 0 2 1 0 0 3
Freeman-Sheldon syndrome 0 0 0 2 1 0 0 3
Frontotemporal dementia, ubiquitin-positive; Ceroid lipofuscinosis, neuronal, 11 0 11 0 3 2 0 0 3
Fructose-biphosphatase deficiency 0 0 0 3 0 0 0 3
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 0 2 0 3 0 0 1 3
Generalized epilepsy with febrile seizures plus, type 2 0 15 0 1 0 0 2 3
Glaucoma 3, primary congenital, A 0 6 0 0 0 1 2 3
Global developmental delay 0 4 0 3 0 0 2 3
Glucose transporter type 1 deficiency syndrome 0 5 0 1 2 0 0 3
Glycogen storage disease type IXa1 0 4 0 2 1 0 0 3
Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 0 6 0 2 0 0 1 3
Gorlin syndrome; Medulloblastoma 0 3 0 1 2 0 0 3
Hematologic neoplasm 0 0 0 3 0 0 0 3
Hemochromatosis type 1 0 2 0 1 1 2 0 3
Hemophagocytic lymphohistiocytosis, familial, 3 0 6 0 0 3 0 0 3
Hemophagocytic lymphohistiocytosis, familial, 5 0 3 0 2 1 0 0 3
Hereditary hemochromatosis 0 2 0 0 1 2 0 3
Hereditary sensory and autonomic neuropathy type IC 0 2 0 2 1 0 0 3
Hereditary sensory and autonomic neuropathy type IIA 0 2 2 0 1 0 0 3
Histiocytosis-lymphadenopathy plus syndrome 0 1 0 1 0 0 2 3
Holocarboxylase synthetase deficiency 0 3 0 3 0 0 0 3
Holoprosencephaly 2 0 1 2 0 0 0 1 3
Holoprosencephaly 7 0 0 0 0 0 0 3 3
Homocystinuria 0 12 0 2 1 0 0 3
Hyperimmunoglobulin E syndrome 0 1 3 0 0 0 0 3
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 0 1 1 1 0 0 3
Hypocalcemia 0 2 0 1 3 0 0 3
Hypogonadotropic hypogonadism 7 with or without anosmia 0 3 0 3 0 0 0 3
Hypomyelinating leukodystrophy 7 0 0 2 1 0 0 0 3
Hypoparathyroidism familial isolated 0 3 0 1 3 0 0 3
Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 0 3 0 2 2 0 1 3
Idiopathic hypercalcemia of infancy 0 2 0 2 0 0 1 3
Inclusion Body Myopathy, Dominant 0 3 0 3 0 0 0 3
Inclusion Body Myopathy, Recessive 0 0 0 0 3 0 0 3
Inclusion body myopathy 2; Nonaka myopathy; Sialuria 0 2 0 2 0 0 1 3
Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 0 4 0 1 2 0 0 3
Irido-corneo-trabecular dysgenesis 0 2 0 0 2 0 1 3
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 0 2 0 3 0 0 0 3
Juvenile retinoschisis 0 12 0 3 0 0 0 3
Kallmann syndrome 2 0 1 0 1 0 1 1 3
Kallmann syndrome 2; Pfeiffer syndrome 0 3 0 2 0 0 1 3
Kallmann syndrome 3 0 0 0 1 0 0 2 3
Kartagener syndrome 0 8 0 2 0 0 1 3
Left ventricular noncompaction 0 4 0 0 2 0 1 3
Left ventricular noncompaction 10 0 5 0 1 1 0 1 3
Left ventricular noncompaction 5 0 0 0 3 0 0 1 3
Left ventricular noncompaction 9 0 1 0 3 0 0 0 3
Lethal Encephalopathy 0 4 0 2 1 0 0 3
Leukodystrophy, hypomyelinating, 6 0 5 0 3 0 0 0 3
Lig4 syndrome 0 3 0 2 0 0 1 3
Limb-girdle muscular dystrophy 0 5 0 2 0 0 1 3
Limb-girdle muscular dystrophy, type 2S 0 0 0 2 1 0 0 3
Lissencephaly 2 0 7 0 2 2 0 0 3
Luscan-lumish syndrome 0 3 0 2 1 0 0 3
Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 0 15 2 0 2 0 0 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 0 0 0 1 0 0 2 3
MYBPC3-Related Disorders 0 1 0 3 0 0 0 3
Malaria, resistance to 0 0 0 0 0 3 0 3
Malignant hyperthermia 0 4 0 0 2 0 1 3
Marinesco-Sjögren syndrome 0 4 0 3 1 0 0 3
Maturity-onset diabetes of the young, type 3 0 8 0 2 0 0 1 3
Meckel syndrome type 3 0 1 1 1 0 0 2 3
Megaloblastic anemia due to inborn errors of metabolism 0 2 0 1 1 0 1 3
Mental retardation, X-linked, syndromic 13 0 21 0 1 1 0 2 3
Mental retardation, X-linked, syndromic, Turner type 0 2 0 3 0 0 0 3
Mental retardation, autosomal dominant 5 0 13 0 1 1 0 1 3
Mental retardation, autosomal recessive 15 0 1 0 3 0 0 0 3
Mental retardation, autosomal recessive 53 0 3 0 2 0 0 1 3
Microcephalic Osteodysplastic Primordial Dwarfism 0 10 0 0 3 0 0 3
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 0 9 0 2 1 0 0 3
Microphthalmia, isolated 5 0 2 0 1 0 0 2 3
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 0 7 0 2 1 0 0 3
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 0 0 1 0 0 0 2 3
Miyoshi muscular dystrophy 3 0 8 1 2 0 0 0 3
Mucopolysaccharidosis type VII 0 2 0 3 0 0 0 3
Multiple Cutaneous and Uterine Leiomyomas 0 5 0 1 1 0 1 3
Multiple exostoses type 2 0 5 0 1 2 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 3 0 2 2 0 0 3
Myasthenic syndrome, congenital, 4a, slow-channel 0 9 0 1 0 0 2 3
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 0 1 0 1 2 0 0 3
Myoclonic dystonia 0 9 0 0 2 0 1 3
Myoclonic epilepsy myopathy sensory ataxia 0 0 0 1 0 0 2 3
Myofibrillar myopathy 3 0 10 0 1 2 0 0 3
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 0 13 0 3 0 0 0 3
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 0 2 0 3 0 0 0 3
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 0 0 0 0 2 0 1 3
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 28 0 2 2 0 0 3
Neonatal diabetes mellitus 0 0 0 3 0 0 0 3
Neonatal intrahepatic cholestasis caused by citrin deficiency 0 2 2 0 0 0 1 3
Neonatal severe hyperparathyroidism 0 3 0 1 3 0 0 3
Nephronophthisis 14 0 2 0 1 2 0 0 3
Neural tube defects, folate-sensitive 0 2 0 1 1 3 0 3
Neuroblastoma 3 0 17 0 1 2 0 0 3
Neurodegeneration with brain iron accumulation 5 0 7 0 2 0 0 1 3
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 0 0 3 0 0 0 3
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 2 0 3 0 0 0 3
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 0 18 2 0 1 0 0 3
Newfoundland rod-cone dystrophy 0 0 0 0 3 0 0 3
Nijmegen breakage syndrome-like disorder 0 22 0 2 1 0 0 3
Non-Hodgkin lymphoma 0 4 0 2 0 0 1 3
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 0 19 0 2 1 0 0 3
Noonan syndrome 8 0 13 0 2 0 0 1 3
Noonan syndrome 9 0 16 0 2 1 0 0 3
Noonan syndrome-like disorder with loose anagen hair 1 0 1 0 1 1 0 1 3
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF 0 0 0 0 0 3 0 3
Odontoonychodermal dysplasia; Tooth agenesis, selective, 4 0 2 0 0 1 0 2 3
Oral-facial-digital syndrome 0 0 3 0 0 0 0 3
Otofaciocervical syndrome 1 0 3 0 0 3 0 0 3
Paget disease of bone 0 1 0 3 0 0 0 3
Paraganglioma and gastric stromal sarcoma 0 4 0 3 1 0 0 3
Parathyroid carcinoma 0 4 1 1 1 0 0 3
Parkes Weber syndrome 0 2 0 2 1 0 0 3
Parkinson disease 20, early-onset; Epileptic encephalopathy, early infantile, 53 0 9 0 2 1 0 0 3
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 6 0 1 1 0 2 3
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 0 3 0 3 0 0 0 3
Peroxisome biogenesis disorder 9B 0 1 0 3 0 0 0 3
Pierson syndrome 0 0 0 3 0 0 0 3
Pigmented paravenous chorioretinal atrophy 0 6 0 1 2 0 1 3
Pituitary hormone deficiency, combined 1 0 2 0 2 0 0 1 3
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0 2 0 2 1 0 0 3
Pontocerebellar hypoplasia type 6 0 3 0 1 0 0 2 3
Primary open angle glaucoma 0 1 0 2 0 0 1 3
Primary pulmonary hypertension 0 15 0 0 2 0 1 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 0 1 0 2 0 0 2 3
Progressive familial heart block type 1B 0 10 0 0 2 0 2 3
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 6 0 1 2 0 1 3
Prostate cancer, hereditary, 2 0 0 0 1 0 0 3 3
Retinitis pigmentosa 19 0 8 0 2 0 0 1 3
Retinitis pigmentosa 45 0 0 0 0 2 0 1 3
Rippling muscle disease 2 0 5 0 1 0 0 2 3
Roberts-SC phocomelia syndrome 0 2 1 2 0 0 0 3
SUDDEN INFANT DEATH SYNDROME 0 6 0 0 0 0 3 3
Schimke immunoosseous dysplasia 0 3 0 0 3 0 0 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 0 1 2 0 0 1 3
Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 0 7 0 3 1 0 0 3
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 5 0 1 1 0 1 3
Skin/hair/eye pigmentation 2, red hair/fair skin 0 0 0 0 0 3 0 3
Spastic paraplegia 48, autosomal recessive 0 6 0 3 0 0 0 3
Spinal muscular atrophy, distal, autosomal recessive, 1 0 6 0 1 1 0 1 3
Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 0 6 0 2 1 0 0 3
Spinocerebellar ataxia 14 0 2 1 1 0 0 1 3
Spinocerebellar ataxia 29 0 0 0 1 1 0 1 3
Spongy degeneration of central nervous system 0 3 0 1 0 0 2 3
Succinyl-CoA acetoacetate transferase deficiency 0 4 0 1 2 0 0 3
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 0 0 0 2 1 0 1 3
Takenouchi-Kosaki syndrome 0 1 0 3 0 0 0 3
Temporal epilepsy, familial 0 4 0 2 1 0 0 3
Thiamine Metabolism Dysfunction Syndrome 0 6 0 3 0 0 0 3
Transposition of the great arteries, dextro-looped 1 0 2 0 3 0 0 0 3
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 0 11 0 3 0 0 0 3
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 1 0 3 0 3 0 0 0 3
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 3 0 1 2 0 0 3
Usher syndrome, type 2C 0 1 0 1 2 0 0 3
Vitreoretinopathy 0 0 0 0 3 0 0 3
Wagner syndrome 0 0 0 0 3 0 0 3
Warfarin response 0 0 0 0 0 3 0 3
Weaver syndrome 0 3 0 1 2 0 0 3
Werdnig-Hoffmann disease 0 3 0 2 0 0 1 3
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 0 3 0 2 1 0 0 3
X-linked severe combined immunodeficiency 0 6 0 3 0 0 0 3
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 0 2 0 2 1 0 0 3
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 1 0 1 1 0 1 3
warfarin response - Dosage 0 0 0 0 0 3 0 3
2-aminoadipic 2-oxoadipic aciduria 0 0 0 2 0 0 1 2
3-Methylglutaconic aciduria type 2 0 4 0 1 0 0 1 2
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 0 1 0 1 0 0 1 2
ADCK3-Related Disorders 0 0 0 0 0 0 2 2
ALG9 congenital disorder of glycosylation 0 4 0 0 2 0 0 2
ANO5-Related Disorders 0 3 0 1 0 0 1 2
Achondrogenesis, type IA 0 0 0 0 1 0 1 2
Achromatopsia 2 0 3 0 1 0 0 2 2
Acute monocytic leukemia; Acute monoblastic leukemia 0 1 0 0 2 0 0 2
Acute neuronopathic Gaucher's disease 0 2 0 2 0 0 0 2
Acyl-CoA dehydrogenase family, member 9, deficiency of 0 9 0 2 1 0 0 2
Adams-Oliver syndrome 0 3 0 0 2 0 0 2
Adult hypophosphatasia 0 4 0 2 0 0 0 2
Agammaglobulinemia 2, autosomal recessive 0 3 0 1 1 0 0 2
Agammaglobulinemia 4, autosomal recessive 0 0 0 1 1 0 0 2
Aicardi Goutieres syndrome 3 0 0 0 1 1 0 0 2
Alzheimer disease, type 1 0 10 0 1 0 0 1 2
Alzheimer disease, type 4 0 10 0 1 0 0 1 2
Aminoacylase 1 deficiency 0 0 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 1 0 11 0 2 0 0 1 2
Amyotrophic lateral sclerosis type 4 0 1 1 1 0 0 0 2
Amyotrophic lateral sclerosis type 9 0 0 0 0 0 0 2 2
Angelman syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 0 2 0 0 2 0 0 2
Anterior segment mesenchymal dysgenesis 0 0 0 0 1 0 1 2
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 1 0 1 1 0 0 2
Aortic valve disorder 0 0 0 1 1 0 0 2
Arginase deficiency 0 4 0 2 0 0 0 2
Arginine:glycine amidinotransferase deficiency 0 5 0 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia, familial 1 0 4 0 1 1 0 0 2
Arterial calcification of infancy 0 2 0 0 1 0 1 2
Arthrogryposis, distal, with impaired proprioception and touch 0 3 0 1 0 0 1 2
Arts syndrome 0 0 0 1 0 0 1 2
Asparagine synthetase deficiency 0 2 0 1 0 0 1 2
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 0 0 0 1 1 0 0 2
Ataxia with vitamin E deficiency 0 2 1 1 0 0 1 2
Atelosteogenesis 0 4 0 2 0 0 0 2
Atrial fibrillation, familial, 16 0 0 0 1 0 0 1 2
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 0 10 0 2 0 0 0 2
Atrial septal defect 7 with or without atrioventricular conduction defects 0 8 0 0 1 0 1 2
Atypical hemolytic uremic syndrome 0 1 0 1 1 0 0 2
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 0 0 1 0 0 1 2
Autism, susceptibility to, X-linked 3 0 6 0 0 0 1 1 2
Autoimmune lymphoproliferative syndrome 0 1 0 0 2 0 0 2
Autosomal recessive cutis laxa type IA 0 2 1 0 0 0 1 2
Axenfeld-Rieger Syndrome 0 0 0 0 1 0 1 2
BCS1L-Related Disorders 0 1 0 0 0 0 2 2
Bainbridge-Ropers syndrome 0 5 0 1 0 0 1 2
Bardet-Biedl syndrome 2 0 1 0 1 0 0 1 2
Bare lymphocyte syndrome type 1 0 0 0 1 1 0 0 2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 0 17 0 2 0 0 0 2
Beta thalassemia intermedia 0 5 0 1 0 0 1 2
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 0 0 2 0 0 0 2
Beta-sarcoglycanopathy 0 5 0 2 0 0 0 2
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 5 0 1 1 0 0 2
Bronchiectasis with or without elevated sweat chloride 1, modifier of 0 0 0 0 0 2 0 2
Bronchiectasis with or without elevated sweat chloride 3 0 0 0 0 0 0 2 2
Brugada syndrome 2 0 1 0 0 0 0 2 2
Brugada syndrome 7 0 0 0 1 1 0 0 2
Bull's eye maculopathy 0 0 0 2 0 0 0 2
CDH23-Related Disorders 0 14 0 1 1 0 0 2
CLCN4-related disorder 0 2 0 1 0 0 1 2
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 0 0 0 1 0 0 1 2
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 0 0 0 0 0 0 2 2
Camptocormia 0 0 0 1 0 0 1 2
Carbonic anhydrase VA deficiency, hyperammonemia due to 0 1 0 2 0 0 0 2
Carcinoma of gallbladder 0 1 0 1 0 0 1 2
Cardiofaciocutaneous syndrome 4 0 7 0 2 0 0 0 2
Carney triad 0 0 0 2 0 0 0 2
Carnitine palmitoyl transferase 1 deficiency 0 3 0 0 2 0 0 2
Carpenter syndrome 1 0 1 0 1 0 0 1 2
Cataract 0 0 0 0 1 0 1 2
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 2 0 1 0 0 1 2
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 0 3 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 2K 0 4 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 2P 0 9 0 1 1 0 0 2
Charcot-Marie-Tooth disease, axonal, type 2S 0 5 0 2 0 0 0 2
Charcot-Marie-Tooth disease, demyelinating, type 4f 0 4 1 0 1 0 0 2
Charcot-Marie-Tooth disease, type 1C 0 5 1 1 0 0 0 2
Charcot-Marie-Tooth disease, type 2L 0 1 0 0 2 0 0 2
Charcot-Marie-Tooth, X-linked 0 1 0 2 0 0 0 2
Child syndrome 0 0 0 0 0 0 2 2
Cholesterol monooxygenase (side-chain cleaving) deficiency 0 1 0 2 0 0 0 2
Chromosome 2q32-q33 deletion syndrome 0 5 0 1 0 0 1 2
Chronic obstructive pulmonary disease; Alpha-1-antitrypsin deficiency 0 1 0 1 0 1 0 2
Cockayne syndrome B 0 6 0 1 1 0 0 2
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome 0 0 0 1 1 0 0 2
Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 0 6 0 0 0 0 2 2
Combined malonic and methylmalonic aciduria 0 2 0 1 0 0 2 2
Combined oxidative phosphorylation deficiency 1 0 2 0 2 0 0 0 2
Combined oxidative phosphorylation deficiency 13 0 0 0 0 0 0 2 2
Combined oxidative phosphorylation deficiency 15 0 2 0 2 0 0 0 2
Complement component 2 deficiency 0 0 0 1 1 0 0 2
Congenital Bile Acid Synthesis Defect 0 5 0 1 0 0 1 2
Congenital cataract 0 2 0 1 1 0 0 2
Congenital diaphragmatic hernia 0 0 0 0 2 0 0 2
Congenital disorder of deglycosylation 0 5 0 2 0 0 0 2
Congenital disorder of glycosylation type 1B 0 1 0 1 1 0 0 2
Congenital disorder of glycosylation type 1E 0 0 0 2 0 0 0 2
Congenital disorder of glycosylation type 1H 0 0 0 0 0 0 2 2
Congenital disorder of glycosylation type 1I; Myasthenic syndrome, congenital, 14 0 1 0 2 0 0 0 2
Congenital disorder of glycosylation type 1Q 0 1 0 1 0 0 1 2
Congenital disorder of glycosylation type 2B 0 1 0 1 1 0 0 2
Congenital disorder of glycosylation type 2L; Shaheen syndrome 0 0 0 2 0 0 0 2
Congenital dyserythropoietic anemia, type I 0 0 0 2 0 0 0 2
Congenital hypomyelinating neuropathy 1, autosomal recessive 0 1 0 1 1 0 0 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 3 0 2 0 0 0 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 0 4 0 0 0 0 2 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 0 2 0 0 0 0 2 2
Congenital muscular hypertrophy-cerebral syndrome 0 3 0 2 0 0 1 2
Congenital ocular coloboma 0 2 0 0 0 1 1 2
Congenital stationary night blindness 0 3 0 1 0 0 1 2
Congenital stationary night blindness, type 1B 0 6 0 2 0 0 0 2
Congenital stationary night blindness, type 1E 0 3 0 0 1 0 1 2
Cornelia de Lange Syndrome 0 8 0 1 1 0 0 2
Coronary heart disease 0 0 0 0 0 2 0 2
Cortical malformations, occipital 0 4 0 0 2 0 0 2
Cowden syndrome 5 0 1 0 1 0 0 1 2
Crigler-Najjar syndrome, type II 0 2 0 0 0 2 0 2
Crouzon syndrome 0 6 0 1 0 1 0 2
Cutaneous malignant melanoma 8 0 0 0 1 0 2 0 2
Cystic fibrosis; Congenital bilateral absence of the vas deferens 0 0 0 1 0 1 1 2
Dandy-Walker like malformation with atrioventricular septal defect; Spastic paraplegia 8 0 4 0 1 1 0 0 2
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 5 0 1 0 0 1 2
Deafness, autosomal recessive 1A; Deafness, autosomal recessive 1b; Deafness, autosomal dominant 3b; Hidrotic ectodermal dysplasia syndrome 0 1 0 0 2 0 0 2
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 0 15 0 2 0 0 0 2
Deafness, autosomal recessive 7 0 2 0 1 0 0 1 2
Deafness, autosomal recessive 8 0 3 0 1 0 0 1 2
Deafness, nonsyndromic sensorineural, mitochondrial 0 1 0 0 0 0 2 2
Death in early adulthood 0 1 0 0 0 0 2 2
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 2 0 1 0 0 1 2
Deficiency of aromatic-L-amino-acid decarboxylase 0 2 0 2 0 0 0 2
Deficiency of guanidinoacetate methyltransferase 0 6 1 1 0 0 0 2
Deficiency of transaldolase 0 1 0 0 0 0 2 2
Delayed puberty 0 0 0 1 0 0 1 2
Dementia, Lewy body, susceptibility to 0 0 0 0 0 2 0 2
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 3 0 0 1 0 1 2
Diffuse mesangial sclerosis 0 5 0 2 0 0 0 2
Dilated Cardiomyopathy, Recessive 0 6 0 2 0 0 0 2
Dilated cardiomyopathy 1AA 0 3 0 2 0 0 0 2
Dilated cardiomyopathy 1BB 0 0 0 1 0 1 0 2
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 0 11 0 0 1 0 1 2
Dilated cardiomyopathy 1E 0 3 0 0 0 0 2 2
Dilated cardiomyopathy 1HH 0 1 0 2 0 0 0 2
Dilated cardiomyopathy 1I 0 0 0 1 0 0 1 2
Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 0 7 0 1 2 0 0 2
Dilated cardiomyopathy 1M 0 0 0 0 1 0 1 2
Dilated cardiomyopathy 1N 0 0 0 0 0 0 2 2
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 0 0 0 2 0 0 0 2
Dysgerminoma 0 0 0 0 0 2 0 2
Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 1 0 1 2
Dystonia 1 0 2 0 1 0 0 1 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 0 0 2 0 0 0 2
Early infantile epileptic encephalopathy 17 0 1 0 2 0 0 0 2
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 0 8 0 0 2 0 0 2
Early infantile epileptic encephalopathy 5 0 5 0 0 2 0 0 2
Ehlers-Danlos syndrome progeroid type 0 3 0 1 0 0 1 2
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 0 0 1 0 1 0 2
Endometrial neoplasm 0 0 0 2 0 0 0 2
Epidermolysis bullosa, junctional 0 8 0 1 1 0 0 2
Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 0 1 0 1 1 0 0 2
Epilepsy, nocturnal frontal lobe, type 1 0 1 2 1 0 0 0 2
Epilepsy, nocturnal frontal lobe, type 4 0 1 0 0 2 0 0 2
Epilepsy, progressive myoclonic 5 0 1 0 1 1 0 0 2
Epileptic encephalopathy, childhood-onset 0 25 0 1 1 0 0 2
Epileptic encephalopathy, early infantile, 29 0 1 0 1 0 0 1 2
Epileptic encephalopathy, early infantile, 30 0 7 0 2 0 0 0 2
Epileptic encephalopathy, early infantile, 31 0 4 0 1 1 0 0 2
Epileptic encephalopathy, early infantile, 32 0 3 0 0 1 0 1 2
Epileptic encephalopathy, early infantile, 33 0 4 0 2 0 0 0 2
Epileptic encephalopathy, early infantile, 42 0 1 0 1 1 0 0 2
Erythrocytosis, familial, 2 0 1 0 0 0 0 2 2
Erythrokeratodermia variabilis 0 2 0 0 2 0 0 2
Ethylmalonic encephalopathy 0 6 0 2 0 0 0 2
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 0 0 0 1 0 0 1 2
Factor VII deficiency 0 0 0 1 0 1 0 2
Familial Isolated Pituitary Adenomas 0 0 0 0 2 0 0 2
Familial Periodic Fever 0 0 0 2 0 0 0 2
Familial aortopathy 0 6 0 1 0 0 1 2
Familial cardiomyopathy 0 1 0 1 0 0 1 2
Familial cold autoinflammatory syndrome 2 0 6 0 0 1 0 1 2
Familial cold autoinflammatory syndrome 3 0 6 0 2 0 0 0 2
Familial hemiplegic migraine type 1 0 3 0 1 0 0 1 2
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 17 0 1 1 0 0 2
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 6 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 12 0 0 0 0 1 0 1 2
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 6 0 2 1 0 0 2
Familial hypertrophic cardiomyopathy 13 0 0 0 1 0 0 1 2
Familial hypertrophic cardiomyopathy 16 0 7 0 2 0 0 0 2
Familial hypertrophic cardiomyopathy 17 0 6 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 24 0 0 0 1 0 0 2 2
Familial hypertrophic cardiomyopathy 3 0 3 0 1 0 0 1 2
Familial mediterranean fever, autosomal dominant 0 2 0 1 1 0 2 2
Familial thoracic aortic aneurysm; Acute aortic dissection 0 3 0 2 0 0 0 2
Fanconi anemia, complementation group D1 0 8 0 2 0 0 0 2
Fanconi anemia, complementation group L 0 0 0 1 0 0 1 2
Febrile seizures, familial, 4 0 2 0 0 2 0 0 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 0 0 1 0 0 1 2
GPSM2-Related Disorders 0 1 0 2 0 0 0 2
Galloway-Mowat syndrome 1 0 1 0 2 0 0 0 2
Gastrointestinal polyposis 0 0 0 1 2 0 0 2
Generalized epilepsy with febrile seizures plus, type 1 0 4 0 1 1 0 0 2
Genetic non-acquired premature ovarian failure 0 1 0 1 0 0 1 2
Gilbert's syndrome 0 4 0 0 0 2 0 2
Glucocorticoid deficiency with achalasia 0 4 0 2 0 0 0 2
Glucose 6 phosphate dehydrogenase deficiency 0 7 0 1 1 0 1 2
Glycogen storage disease, type I 0 5 0 2 0 0 0 2
Gonadotropin-independent familial sexual precocity 0 2 0 0 2 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 4 0 0 2 0 0 2
Growth hormone insensitivity with immunodeficiency 0 0 0 0 2 0 0 2
HNSHA due to aldolase A deficiency 0 0 0 2 0 0 0 2
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES 0 0 0 2 0 0 0 2
Harel-Yoon syndrome 0 0 0 2 0 0 0 2
Head and Neck Neoplasms 0 0 0 2 0 0 0 2
Hemochromatosis type 3 0 0 0 1 0 0 1 2
Hemoglobinopathy 0 15 0 2 0 0 0 2
Hemophagocytic lymphohistiocytosis, familial, 2 0 4 0 0 2 0 1 2
Hemorrhage, intracerebral, susceptibility to 0 0 0 0 0 2 0 2
Hennekam lymphangiectasia-lymphedema syndrome 0 1 0 1 0 0 1 2
Hepatic methionine adenosyltransferase deficiency 0 6 0 0 0 0 2 2
Hepatoblastoma 0 3 0 1 1 1 1 2
Hereditary angioedema type 1 0 3 0 2 0 0 0 2
Hereditary factor VIII deficiency disease 0 14 0 2 0 0 0 2
Hermansky-Pudlak syndrome 0 6 0 1 1 0 0 2
Hermansky-Pudlak syndrome 1 0 1 2 0 0 0 0 2
Heterotaxia 0 4 0 1 1 0 0 2
Heterotopia 0 7 0 2 0 0 0 2
Holoprosencephaly 9; Culler-Jones syndrome 0 3 0 1 1 0 0 2
Hydrops, lactic acidosis, and sideroblastic anemia 0 0 0 1 0 0 1 2
Hyper-IgE syndrome 0 8 0 2 0 0 0 2
Hyperaldosteronism, familial, type I 0 3 0 2 0 0 0 2
Hyperbilirubinemia 0 4 0 1 0 2 0 2
Hypergonadotropic hypogonadism 0 0 0 0 2 0 0 2
Hyperparathyroidism 2 0 2 0 1 1 0 0 2
Hyperphenylalaninemia, non-pku 0 16 0 1 0 0 1 2
Hyperphosphatasia with mental retardation syndrome 4 0 0 0 2 0 0 0 2
Hyperthyroidism, nonautoimmune 0 0 0 0 0 0 2 2
Hypocalciuric hypercalcemia, familial, type 1 0 5 0 1 0 0 1 2
Hypochondroplasia 0 1 2 0 0 0 0 2
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 0 1 0 0 1 0 1 2
Hypogonadotropic hypogonadism 2 with anosmia 0 0 0 0 0 2 0 2
Hypohidrotic Ectodermal Dysplasia, Dominant 0 2 0 0 2 0 0 2
Hypophosphatemic Rickets, Recessive 0 3 0 0 2 0 0 2
Hypophosphatemic rickets, X-linked recessive 0 0 0 2 0 0 0 2
Immunodeficiency 26 with or without neurologic abnormalities 0 3 0 1 1 0 0 2
Immunodeficiency with Hyper-IgM 0 4 0 2 0 0 0 2
Immunodeficiency with hyper IgM type 1 0 0 0 2 0 0 0 2
Immunodeficiency with hyper IgM type 2 0 2 0 1 1 0 0 2
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia 0 1 0 1 1 0 0 2
Immunoglobulin A deficiency 2 0 0 0 0 0 0 2 2
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 0 4 0 2 0 0 0 2
Increased analgesia from kappa-opioid receptor agonist, female-specific 0 0 0 0 0 2 0 2
Increased left ventricular wall thickness 0 1 0 0 2 0 0 2
Infantile GM1 gangliosidosis 0 9 0 1 0 0 1 2
Infantile nephronophthisis 0 4 0 0 1 0 1 2
Inflammatory bowel disease 28, autosomal recessive 0 2 0 0 2 0 0 2
Inosine triphosphatase deficiency 0 1 0 1 0 0 1 2
Interstitial lung and liver disease 0 0 0 1 0 0 1 2
Irido-corneo-trabecular dysgenesis; Rieger syndrome 0 0 0 0 1 0 1 2
Iridogoniodysgenesis, dominant type 0 1 0 0 1 0 1 2
Isolated Hyperparathyroidism 0 1 0 1 1 0 0 2
Jarcho-Levin syndrome 0 1 0 2 0 0 0 2
Jervell and Lange-Nielsen syndrome 1 0 6 0 2 0 0 0 2
Jeune thoracic dystrophy; Nephronophthisis 0 14 0 1 2 0 0 2
Joubert syndrome 15 0 0 0 1 1 0 0 2
Joubert syndrome 20; Meckel syndrome, type 11 0 2 0 0 1 0 1 2
Joubert syndrome 2; Meckel syndrome type 2 0 1 0 2 0 0 0 2
Joubert syndrome 6 0 5 0 1 0 0 1 2
KCNQ2-Related Disorders 0 3 0 1 1 0 0 2
Kanzaki disease 0 4 0 2 0 0 0 2
Kidney Carcinoma 0 0 0 1 0 0 1 2
Klippel-Feil syndrome 1, autosomal dominant 0 0 0 0 0 0 2 2
Knobloch syndrome 1 0 7 0 1 0 0 1 2
Kugelberg-Welander disease 0 3 0 1 0 0 1 2
LCHAD Deficiency 0 2 0 1 1 0 0 2
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 15 0 2 0 0 0 2
Left ventricular hypertrophy 0 8 0 0 0 0 2 2
Left ventricular noncompaction 6 0 7 0 0 1 0 1 2
Left ventricular noncompaction 8 0 5 0 0 2 0 0 2
Leigh syndrome due to mitochondrial complex IV deficiency 0 2 0 1 0 0 1 2
Leptin receptor deficiency 0 0 0 2 0 0 0 2
Leukocyte adhesion deficiency type 1 0 2 0 2 0 0 0 2
Leydig cell agenesis 0 0 0 0 2 0 0 2
Li-Fraumeni syndrome 2 0 0 0 2 0 0 1 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 0 4 0 1 0 0 1 2
Lissencephaly/Subcortical Band Heterotopia 0 0 0 1 1 0 0 2
Loeys-Dietz syndrome 2 0 13 0 1 0 0 1 2
Long QT syndrome 2/9, digenic 0 0 0 0 0 0 2 2
Long QT syndrome 5 0 1 0 1 0 1 0 2
Long QT syndrome 6 0 8 0 0 2 1 2 2
Long QT syndrome, drug-associated 0 1 0 1 1 0 0 2
Lowe syndrome 0 6 0 2 0 0 0 2
Lysosomal acid lipase deficiency 0 6 0 2 0 0 0 2
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 2 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 0 0 0 2 0 0 0 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 0 2 0 2 0 0 0 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 0 1 0 2 0 0 0 2
MTHFR deficiency, thermolabile type 0 0 0 0 1 2 1 2
Mandibuloacral dysplasia with type A lipodystrophy, atypical 0 2 0 1 0 0 2 2
Maple syrup urine disease type 1A 0 2 0 1 0 0 1 2
Maple syrup urine disease type 1B 0 2 0 2 0 0 0 2
McKusick Kaufman syndrome 0 3 1 1 0 0 0 2
Meacham syndrome 0 4 0 2 0 0 0 2
Melanoma, cutaneous malignant, susceptibility to, 10 0 1 0 0 0 0 2 2
Melnick-Fraser syndrome 0 1 1 0 1 0 0 2
Mental retardation, autosomal dominant 32 0 1 0 1 0 0 1 2
Mental retardation, autosomal recessive 3 0 0 0 0 2 0 0 2
Mental retardation, autosomal recessive 58 0 0 0 2 0 0 1 2
Mental retardation, with or without seizures, ARX-related, X-linked 0 1 0 1 0 0 1 2
Metachondromatosis 0 2 0 1 1 0 0 2
Metaphyseal chondrodysplasia 0 4 0 1 1 0 0 2
Methylmalonic acidemia with homocystinuria cblD 0 0 0 1 1 0 0 2
Methylmalonyl-CoA epimerase deficiency 0 1 0 0 1 0 2 2
Microcephaly-capillary malformation syndrome 0 1 0 2 0 0 0 2
Microcytic anemia 0 0 0 1 1 0 0 2
Microvascular complications of diabetes 7 0 0 0 0 0 2 0 2
Minicore myopathy 0 12 0 1 0 0 1 2
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 0 3 0 1 1 0 0 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy 0 0 0 1 0 0 1 2
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 0 6 0 2 0 0 0 2
Monogenic Non-Syndromic Obesity 0 1 0 2 0 0 0 2
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 0 0 2 0 0 0 2
Multiple mitochondrial dysfunctions syndrome 0 3 0 2 0 0 0 2
Muscular dystrophy, congenital, megaconial type 0 3 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy 0 2 0 1 0 0 1 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 4 0 2 0 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 12 0 1 1 0 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 0 5 0 0 1 0 1 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 0 3 0 2 0 0 0 2
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 0 1 0 2 0 0 0 2
Myasthenic syndrome, congenital, 15 0 3 0 1 1 0 0 2
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 0 6 0 2 0 0 1 2
Myeloproliferative disorder 0 0 0 1 0 0 1 2
Myoclonic epilepsy, familial infantile 0 6 0 0 1 0 1 2
Myoclonic-atonic epilepsy 0 9 0 2 0 0 0 2
Myopathy, myosin storage, autosomal recessive 0 2 0 1 0 0 2 2
NR2E3-Related Disorders 0 0 0 2 0 0 0 2
Native American myopathy 0 0 0 1 0 0 1 2
Naxos disease 0 4 1 0 1 0 0 2
Nemaline myopathy 3 0 2 0 0 0 0 2 2
Nemaline myopathy 6