| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 5 | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 5 | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 5 | |
Click to view in NCBI Gene