| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary nonpolyposis colorectal neoplasms +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +6 more | |
Click to view in NCBI Gene