| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Joubert syndrome 9 | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 9 | |
Click to view in NCBI Gene