| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC122152296, USH2A (R926C) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | GConflicting classifications of pathogenicity |
| | LOC122152296, USH2A (K811fs) | Deletion (frameshift variant) | Usher syndrome type 2A +1 more | GPathogenic/Likely pathogenic |
| | LOC122152296, USH2A (G805A) | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | |
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