| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | COL2A1-related disorder +2 more | |
| | | Indel (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
Click to view in NCBI Gene