| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 44 +2 more | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 44 | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene