| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Colorectal cancer +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary nonpolyposis colorectal neoplasms +3 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Duplication (frameshift variant) | Lynch syndrome 5 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene