| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Joubert syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 1 +4 more | |
Click to view in NCBI Gene