| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Single nucleotide variant (nonsense) | Corneal dystrophy, Fuchs endothelial, 3 +2 more | |
| | | Microsatellite (frameshift variant) | Pitt-Hopkins syndrome +3 more | |
Click to view in NCBI Gene