| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Schaaf-Yang syndrome +5 more | |
| | | Single nucleotide variant (nonsense) | Schaaf-Yang syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene