| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +18 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene