| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Joubert syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene