| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 15 with polydactyly | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 15 with polydactyly | |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 15 with polydactyly +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene