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