| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (5 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice donor variant) | Intellectual disability, autosomal recessive 44 | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 44 | |
Click to view in NCBI Gene