| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 12 | |
| | | Microsatellite (frameshift variant) | Coffin-Siris syndrome 12 | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 12 | |
| | | Copy number loss | Coffin-Siris syndrome 12 | |
| | | Copy number gain | Coffin-Siris syndrome 12 | |
Click to view in NCBI Gene