| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Coffin-Siris syndrome 8 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene