| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |
| | | Insertion (nonsense) | Pitt-Hopkins syndrome | |
| | | Deletion (nonsense) | Pitt-Hopkins syndrome | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Pitt-Hopkins syndrome | |
Click to view in NCBI Gene