| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Copy number gain | Potocki-Lupski syndrome | |
Click to view in NCBI Gene