| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Usher syndrome, type 1B (DFNB2, MYO7A) | Usher Syndrome | Autosomal Recessive | 11q13.5 | Missense | MYO7A | c.470G>A | Ser157Asn | Amino acid substitution | 2020/Doll et al. 2020 |
| Usher syndrome, type 1B (DFNB2, MYO7A) | Usher Syndrome | Autosomal Recessive | 11q13.5 | Missense | MYO7A | c.3502C>T | Arg1168Trp | Amino acid substitution | 2020/Doll et al. 2020 |
| Usher syndrome, type 1B (MYO7A) | Usher Syndrome | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.487G > A | p.Gly163Arg | Missense | Marwan et al., 2023/2023 |
| Usher syndrome, type 1B (MYO7A) | RP, Hearing loss, Speech defects, Astigmatism | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.3508G>A | p.(Glu1170Lys) | Missense | Asghar et al., 2025/2025 |
