| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Synpolydactyly +13 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | not provided +17 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Polydactyly +2 more | |
| | | Deletion (inframe_deletion) | Familial aplasia of the vermis +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene