| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Cowden syndrome 1 +4 more | |
Click to view in NCBI Gene