| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Joubert syndrome 23 | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 14 with polydactyly +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Joubert syndrome 23 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 23 | |
Click to view in NCBI Gene