| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary nonpolyposis colorectal neoplasms +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mismatch repair cancer syndrome 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene