| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +2 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +9 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene