| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Inflammation of the large intestine +19 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal carcinoma +14 more | GConflicting classifications of pathogenicity; risk factor |
Click to view in NCBI Gene