| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Duplication (frameshift variant) | Stickler syndrome type 1 | |
Click to view in NCBI Gene