| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 23 +2 more | |
| | KIAA0586 (I1125fs +6 more) | Duplication (frameshift variant) | Joubert syndrome 23 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Short-rib thoracic dysplasia 14 with polydactyly +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene