| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial adenomatous polyposis 1 +8 more | GConflicting classifications of pathogenicity; association; risk factor |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast +4 more | |
| | | Indel (frameshift variant) | Familial cancer of breast | |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +5 more | |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | NICE approved PARP inhibitor treatment +21 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 +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene