| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Cowden syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | |
Click to view in NCBI Gene