| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Familial adenomatous polyposis 1 +1 more | |
| | | Duplication (frameshift variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 | |
| | | Deletion (frameshift variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Deletion (frameshift variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Classic or attenuated familial adenomatous polyposis +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene