| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiac, facial, and digital anomalies with developmental delay | |
| | | Single nucleotide variant (splice acceptor variant) | Cardiac, facial, and digital anomalies with developmental delay | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
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