| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability | |
Click to view in NCBI Gene