| RS1060501580 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501584 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501586 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1060501587 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501596 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501599 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501600 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1060501602 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501603 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501609 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501610 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501618 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501625 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501627 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501628 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501630 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501631 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501632 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501633 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501634 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501642 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501645 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501647 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501648 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501650 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501652 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501654 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501657 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501659 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501667 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501669 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501670 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501672 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501676 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501677 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501679 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1060501684 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501685 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501687 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501690 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501691 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501692 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501694 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501695 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501696 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501698 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501700 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501701 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501702 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1060501703 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501704 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501705 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501706 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1060501707 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1060501711 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501712 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1060501713 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS1060501722 |
STXBP1
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060501723 |
STXBP1
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060501724 |
STXBP1
|
Health Risk |
Likely pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS1060501738 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501739 |
BRIP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501740 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501757 |
BRIP1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501763 |
BRIP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501765 |
BRIP1
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS1060501766 |
BRIP1
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group J, Familial cancer of breast |
| RS1060501767 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1060501772 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501774 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501778 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501779 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501780 |
BRIP1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1060501781 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1060501784 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder |
| RS1060501788 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS1060501816 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501819 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501824 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501840 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501843 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501844 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501851 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501853 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501854 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501857 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501858 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1060501859 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1060501860 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS1060501861 |
RSPH1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1060501862 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS1060501866 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS1060501876 |
FANCA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Fanconi anemia complementation group A |
| RS1060501878 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS1060501879 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS1060501880 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS1060501887 |
FANCA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Fanconi anemia complementation group A |
| RS1060501888 |
GABRG2
|
Health Risk |
Likely pathogenic |
Febrile seizures, familial |
| RS1060501889 |
GABRG2
|
Health Risk |
Pathogenic |
Febrile seizures, familial |
| RS1060501900 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |