| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Coffin-Siris syndrome | |
| | | Single nucleotide variant (splice donor variant) | Coffin-Siris syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 16 +4 more | GConflicting classifications of pathogenicity |
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