| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Usher syndrome type 2A (USH2A) | RP, Hearing loss, Speech defects, color vision problems, photophobia | 1q41 | Substitution | USH2A | c.1143G>C | p.(Gln381His) | Missense | Asghar et al., /2025 |
