| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 7 | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Coffin-Siris syndrome 7 | |
Click to view in NCBI Gene