| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 12 +2 more | |
| | | Single nucleotide variant (missense variant) | Coffin-Siris syndrome 12 +1 more | |
| | | Single nucleotide variant (nonsense) | Coffin-Siris syndrome 12 | |
| | | Indel (frameshift variant) | Coffin-Siris syndrome 12 | |
Click to view in NCBI Gene