| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Pitt-Hopkins syndrome | |
| | | Duplication (frameshift variant) | Pitt-Hopkins syndrome | |
| | | Duplication (frameshift variant +1 more) | Pitt-Hopkins syndrome | |
Click to view in NCBI Gene