| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 9 +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene