| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Deletion (frameshift variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
Click to view in NCBI Gene