| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Copy number gain | See cases | |
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