| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Familial adenomatous polyposis 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Familial adenomatous polyposis 1 | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Familial adenomatous polyposis 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Familial adenomatous polyposis 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +1 more | |
| | | Deletion (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Classic or attenuated familial adenomatous polyposis +3 more | |
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