| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 39 +1 more | |
| | | Indel (frameshift variant) | Retinitis pigmentosa 39 | |
| | USH2A, USH2A-AS2 (E1698fs) | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | LOC122152296, USH2A (L872*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Duplication (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (splice acceptor variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Microsatellite (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | USH2A-AS2, USH2A (L1928fs) | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Indel (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | USH2A, USH2A-AS2 (Q1844fs) | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Usher syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Retinitis pigmentosa 39 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Retinitis pigmentosa 39 | |
| | | Indel (frameshift variant) | Retinitis pigmentosa 39 +1 more | |
| | USH2A, USH2A-AS2 (D1828fs) | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Insertion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Indel (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 39 | |
| | USH2A, USH2A-AS1 (I1207fs) | Duplication (frameshift variant) | Retinitis pigmentosa 39 | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 39 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 | |