| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A +2 more | |
| | | Single nucleotide variant (splice donor variant) | Usher syndrome | |
| | USH2A, USH2A-AS1 (Q1063fs) | Deletion (frameshift variant) | Usher syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
Click to view in NCBI Gene