| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | EP300-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
Click to view in NCBI Gene