| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Hereditary breast ovarian cancer syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hereditary breast ovarian cancer syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Inherited breast cancer and ovarian cancer +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | CHEK2-related cancer predisposition +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene