| RS2547299084 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547300382 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547300787 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547312066 |
MIP
|
Health Risk |
Pathogenic |
Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547312090 |
MIP
|
Health Risk |
Pathogenic |
Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547312839 |
MIP
|
Health Risk |
Pathogenic |
MIP-related disorder, MIP-related disorder |
| RS2547312891 |
MIP
|
Health Risk |
Likely pathogenic |
Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547313126 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547313222 |
MIP
|
Health Risk |
Likely pathogenic |
Cataract 15 multiple types, Cataract 15 multiple types |
| RS2547313740 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547314205 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547315697 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547323392 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS2547323808 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS2547327467 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547328641 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547329404 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547329494 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547330172 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547330771 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome |
| RS2547331166 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547331436 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2547331529 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547331780 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547343671 |
ALG11
|
Health Risk |
Pathogenic |
Seizure, Seizure |
| RS2547344882 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547344968 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547345248 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547345881 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547345896 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547347366 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547347880 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547347937 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547348159 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547348591 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547348703 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547349068 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2547349095 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547349170 |
ATM;C11orf65
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2547349234 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547368576 |
LRBA
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2547380034 |
CPLANE1
|
Health Risk |
Pathogenic |
— |
| RS2547403367 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2547411368 |
RYR2
|
Health Risk |
Likely pathogenic |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome |
| RS2547414735 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547415002 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547415247 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547415413 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2547415754 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547415915 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2547417468 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2547418104 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547418431 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547418538 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547418611 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547418736 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547418853 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547418876 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547419235 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547428465 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547432519 |
KY
|
Health Risk |
Likely pathogenic |
Myofibrillar myopathy 7, Myofibrillar myopathy 7 |
| RS2547441708 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547441968 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547442238 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547443017 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547443244 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2547443981 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547444047 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547444444 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547444678 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547445169 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547445789 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547446429 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547446603 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547457958 |
BAZ2B
|
Health Risk |
Pathogenic/Likely pathogenic |
BAZ2B-related disorder, BAZ2B-related disorder |
| RS2547460261 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547460594 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547460769 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547460906 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547461386 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547461509 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547461613 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2547462407 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547462651 |
ANO6
|
Health Risk |
Likely pathogenic |
— |
| RS2547462891 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547462926 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547462972 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2547479238 |
RYR2
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2547484740 |
BRCA1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547492090 |
ANO6
|
Health Risk |
Pathogenic |
SCOTT SYNDROME, SCOTT SYNDROME |
| RS2547502759 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2547502929 |
LRBA
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS2547505917 |
ANO6
|
Health Risk |
Pathogenic |
— |
| RS2547513646 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547514174 |
ATM
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547514863 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547515331 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547515679 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547516055 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547516230 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |