| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Schaaf-Yang syndrome +5 more | |
| | | Microsatellite (inframe_deletion) | not provided | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene