| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Macrocephaly-autism syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Cowden syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Malignant tumor of prostate +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Macrocephaly-autism syndrome | |
| | | Microsatellite (nonsense) | Cowden syndrome 1 +6 more | |
Click to view in NCBI Gene