| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +1 more) | Breast and/or ovarian cancer +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Lynch syndrome +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +9 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene