| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Short-rib thoracic dysplasia 7 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene