| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (nonsense +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly +2 more | |
| | | Duplication (frameshift variant +2 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
Click to view in NCBI Gene