| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (missense variant) | Conotruncal heart malformations | |
| | | Single nucleotide variant (nonsense) | Conotruncal heart malformations | |
| | | Duplication (frameshift variant) | Cerebral palsy +1 more | GLikely pathogenic; risk factor |
| | | Single nucleotide variant (synonymous variant) | Conotruncal heart malformations | GConflicting classifications of pathogenicity |
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