| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Usher syndrome | |
| | LOC122152296, USH2A (C934W) | Single nucleotide variant (missense variant) | Usher syndrome type 2A +4 more | GConflicting classifications of pathogenicity |
| | LOC122152296, USH2A (C902Y) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | LOC122152296, USH2A (S841Y) | Single nucleotide variant (missense variant) | Usher syndrome | |
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