| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Short-rib thoracic dysplasia 19 with or without polydactyly | |
| | | Microsatellite (inframe_deletion +1 more) | Short-rib thoracic dysplasia 19 with or without polydactyly | |
| | | Single nucleotide variant (nonsense +1 more) | Short-rib thoracic dysplasia 19 with or without polydactyly +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene