| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect and common atrioventricular junction | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
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