| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_indel) | Atrioventricular septal defect and common atrioventricular junction | |
| | | Single nucleotide variant (missense variant) | Cutaneous finger syndactyly +3 more | |
| | | Single nucleotide variant (missense variant) | Finger syndactyly +7 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect and common atrioventricular junction +1 more | |
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