| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cowden syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Seborrheic keratosis +14 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +16 more | |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome +17 more | |
Click to view in NCBI Gene