| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast +1 more | |
| | | Deletion (frameshift variant) | Familial cancer of breast +3 more | |
| | | Duplication (frameshift variant) | Breast and/or ovarian cancer | |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Colorectal cancer +4 more | |
| | | Single nucleotide variant (intron variant) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene