| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene