| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
| | | Duplication (frameshift variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Lynch syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Deletion | Lynch syndrome 4 | |
Click to view in NCBI Gene