| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 48 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 48 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 48 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 48 | |
Click to view in NCBI Gene