| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Proline dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Ear malformation +13 more | |
| | | Copy number loss | Velopharyngeal insufficiency +8 more | |
| | | Copy number gain | Pedal edema +3 more | |
Click to view in NCBI Gene