| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 14 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 14 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 14 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | ARID1A-related BAFopathy +1 more | |
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