| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Colorectal cancer +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cowden syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Indel (splice acceptor variant) | Cowden syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Deletion (frameshift variant) | Cowden syndrome 1 +1 more | |
| | | Microsatellite (nonsense) | not provided +5 more | |
Click to view in NCBI Gene