| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-capillary malformation-polymicrogyria syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Ectopic tissue +4 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +6 more | |
Click to view in NCBI Gene