| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ASH1L-related neurodevelopmental disorders +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 52 +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal dominant 52 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 52 +1 more | |
Click to view in NCBI Gene