| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (splice donor variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 21 +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 21 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 21 | |
Click to view in NCBI Gene