| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +1 more | |
| | | Deletion (frameshift variant) | Hereditary breast ovarian cancer syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Li-Fraumeni syndrome +1 more | |
| | | Duplication (frameshift variant) | Fanconi anemia complementation group J +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene