| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ciliopathy +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | Orofaciodigital syndrome IX +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene