| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Breast and/or ovarian cancer +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene