| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL11A1, LOC126805814 (A1770V +3 more) | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
Click to view in NCBI Gene