| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 21 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 21 | |
Click to view in NCBI Gene