| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Endometrial carcinoma +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MSH6-related disorder +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene