| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Deletion | Stickler syndrome type 2 +2 more | |
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