| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Usher Syndrome type 1C (USH1C) | Hearing loss, RP | Autosomal Recessive | 11p15.1 | Insertion | USH1C | 238-239insC | 68fs148* | Frame shift mutation & PTC | Verpy et al., 2000/2000 |
| Usher Syndrome type 1C (USH1C) | Usher syndrome, type 1C | Autosomal Recessive | 11p15.1 | Splice site substitution | USH1C | c.877-1G > A | N/A | Noman et al., 2020/2020 |
