| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | Global developmental delay | |
| | | Single nucleotide variant (splice acceptor variant) | Coffin-Siris syndrome 1 | |
Click to view in NCBI Gene