| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +2 more | GPathogenic/Likely pathogenic |
| | USH2A, USH2A-AS2 (S1849fs) | Deletion (frameshift variant) | Usher syndrome type 2A +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene