| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A +3 more | |
| | USH2A, USH2A-AS1 (Q1063fs) | Deletion (frameshift variant) | not provided +4 more | |
| | | Duplication (frameshift variant) | Retinal dystrophy +7 more | |
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