| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Schaaf-Yang syndrome | |
| | | Single nucleotide variant (nonsense) | Schaaf-Yang syndrome | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Neurodevelopmental delay +5 more | |
| | | Deletion (frameshift variant) | Schaaf-Yang syndrome | |
Click to view in NCBI Gene