| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Basal cell carcinoma, susceptibility to, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +2 more) | Hereditary cancer-predisposing syndrome +1 more | |
Click to view in NCBI Gene