| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | OFD1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +2 more | |
Click to view in NCBI Gene