| | | Single nucleotide variant (nonsense) | Usher syndrome type 2A +5 more | |
| | USH2A, USH2A-AS1 (I1399fs) | Duplication (frameshift variant) | Usher syndrome type 2A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Usher syndrome type 2A +1 more | |
| | | Single nucleotide variant (splice donor variant) | Usher syndrome type 2A +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +2 more | |
| | USH2A-AS1, USH2A (Q1298fs) | Deletion (frameshift variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 2A +3 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | USH2A, USH2A-AS1 (C1228fs) | Duplication (frameshift variant) | Retinitis pigmentosa 39 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | USH2A, USH2A-AS1 (E1199del) | Deletion (inframe_deletion) | Retinitis pigmentosa 39 +3 more | GConflicting classifications of pathogenicity |
| | USH2A, USH2A-AS1 (S1197fs) | Deletion (frameshift variant) | Retinitis pigmentosa 39 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | |
| | USH2A, USH2A-AS1 (C1186fs) | Deletion (frameshift variant) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | USH2A, USH2A-AS1 (I1183fs) | Microsatellite (frameshift variant) | Usher syndrome | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 2A +2 more | GPathogenic/Likely pathogenic |
| | USH2A, USH2A-AS1 (V1165fs) | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Usher syndrome type 2A +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +4 more | |
| | | Insertion (inframe_insertion) | Retinitis pigmentosa 39 +1 more | |
| | USH2A-AS1, USH2A (S1068del) | Microsatellite (inframe_deletion) | Retinitis pigmentosa 39 +1 more | |
| | USH2A, USH2A-AS1 (Q1063fs) | Deletion (frameshift variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | |
| | | Deletion (intron variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Usher syndrome type 2A +1 more | |
| | | Deletion (frameshift variant) | Rare genetic deafness +3 more | |