| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | COL2A1-related skeletal dysplasia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | COL2A1-related skeletal dysplasia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene