| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +8 more | |
| | | Single nucleotide variant (nonsense) | Cowden syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cowden syndrome +12 more | |
Click to view in NCBI Gene