| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | PTEN hamartoma tumor syndrome | |
| | | Deletion (frameshift variant) | Cowden syndrome 1 +1 more | |
Click to view in NCBI Gene