| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +4 more | |
| | | Deletion (frameshift variant) | NICE approved PARP inhibitor treatment +21 more | |
| | | Deletion (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +5 more | |
| | | Single nucleotide variant (missense variant) | Inherited breast cancer and ovarian cancer +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Hereditary breast ovarian cancer syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Familial cancer of breast +2 more | |
| | | Single nucleotide variant (splice donor variant) | Inherited breast cancer and ovarian cancer +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | CHEK2-related cancer predisposition +9 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | Familial cancer of breast +2 more | GPathogenic/Likely pathogenic |
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