| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis pigmentosa 39 (USH2A) | Retinitis pigmentosa | Autosomal Recessive | 1q41 | Substitution | USH2A | c.187C>T | p.Arg63* | Nonsense | Tehreem et al., 2022/2022 |
| Retinitis pigmentosa 39 (USH2A) | Retinitis Pigmentosa | Autosomal Recessive | 1q41 | Substitution | USH2A | c.1560C>A | p.Cys520* | Nonsense | Tehreem et al., 2022/2022 |
