| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Spondyloepiphyseal dysplasia congenita +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | COL2A1-related skeletal dysplasia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene