| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Glioma susceptibility 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Glioma susceptibility 2 +8 more | |
| | | Deletion (frameshift variant +1 more) | Cowden syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Glioma susceptibility 2 +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Cowden syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | PTEN hamartoma tumor syndrome | |
Click to view in NCBI Gene