| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 13 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 31 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 31 | |
| | | Single nucleotide variant (missense variant +2 more) | Short-rib thoracic dysplasia 13 with or without polydactyly +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Joubert syndrome 31 | |
| | | Deletion (frameshift variant +1 more) | Short-rib thoracic dysplasia 13 with or without polydactyly | |
| | | Single nucleotide variant (intron variant) | Short-rib thoracic dysplasia 13 with or without polydactyly +1 more | |
Click to view in NCBI Gene