| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Stickler syndrome type 2 | |
| | | Duplication (splice donor variant) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene