| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Childhood onset hearing loss +2 more | GConflicting classifications of pathogenicity |
| | USH2A, USH2A-AS2 (L1765fs) | Duplication (frameshift variant) | Usher syndrome type 2A | |
| | USH2A-AS2, USH2A (I1740fs) | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
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