| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (frameshift variant) | Juvenile polyposis syndrome +2 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Myhre syndrome +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene