| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Familial adenomatous polyposis 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, susceptibility to +7 more | GConflicting classifications of pathogenicity; association; risk factor |
Click to view in NCBI Gene