| RS1591312430 |
KMT2A
|
Health Risk |
Likely pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591312470 |
KMT2A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1591313765 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary breast ovarian cancer syndrome |
| RS1591313869 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1591314316 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591316134 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |
| RS1591331259 |
APOA1
|
Health Risk |
Likely pathogenic |
Familial visceral amyloidosis, Ostertag type |
| RS1591348421 |
PCDH15
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F |
| RS1591360326 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591360348 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591361903 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591361919 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591361995 |
ACAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362402 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362472 |
ACAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362483 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362533 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363674 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363715 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363760 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363786 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363795 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363800 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363834 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367375 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367422 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367485 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367592 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591368794 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591368919 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591369118 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1591370141 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591370221 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591370366 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591371045 |
ACAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591371152 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Intellectual disability |
| RS1591371185 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591373553 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591373923 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591374532 |
KMT2A
|
Health Risk |
Pathogenic |
— |
| RS1591374544 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374552 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374629 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374632 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374984 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591375843 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591375882 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591376082 |
KMT2A
|
Health Risk |
Pathogenic |
— |
| RS1591378140 |
MYO7A
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS1591379711 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591379741 |
KMT2A
|
Health Risk |
Pathogenic |
— |
| RS1591381084 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591383060 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591384042 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591384391 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591384640 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591385068 |
KMT2A
|
Health Risk |
Likely pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591385183 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591385240 |
ARCN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Short stature, rhizomelic |
| RS1591385663 |
KMT2A
|
Health Risk |
Pathogenic |
Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591386748 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591387383 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1591387609 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1591387978 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591388094 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1591388321 |
KMT2A
|
Health Risk |
Likely pathogenic |
— |
| RS1591388522 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591393351 |
KMT2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Wiedemann-Steiner syndrome, Inborn genetic diseases |
| RS1591407093 |
PHF21A
|
Health Risk |
Pathogenic |
— |
| RS1591407315 |
PHF21A
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS1591437831 |
TECTA
|
Health Risk |
Pathogenic |
Deafness, neurosensory autosomal recessive 21 |
| RS1591445826 |
ATM
|
Health Risk |
Pathogenic |
Ataxia telangiectasi, Ataxia telangiectasi |
| RS1591446206 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591446620 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1591446716 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1591447147 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591451354 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1591451795 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS1591452100 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591452378 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591461970 |
GRIA4
|
Health Risk |
Likely pathogenic |
Obesity, Obesity |
| RS1591462832 |
TECTA
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12 |
| RS1591464171 |
TECTA
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS1591464207 |
TECTA
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Rare genetic deafness |
| RS1591467894 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1591467918 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1591470904 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1591474291 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591474530 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1591474736 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591474980 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1 |
| RS1591475457 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591475608 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS1591479405 |
MYO7A
|
Health Risk |
Pathogenic |
— |
| RS1591479665 |
MYO7A
|
Health Risk |
Likely pathogenic |
— |
| RS1591491477 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1591495767 |
RRAS2
|
Health Risk |
Pathogenic |
Noonan syndrome, Noonan syndrome 12 |
| RS1591495776 |
RRAS2
|
Health Risk |
Likely pathogenic |
Noonan syndrome, Noonan syndrome |
| RS1591495779 |
RRAS2
|
Health Risk |
Pathogenic |
Noonan syndrome, Inborn genetic diseases |
| RS1591496649 |
MYO7A
|
Health Risk |
Pathogenic |
— |