| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Usher Syndrome type 1J (CIB2) | Hearing loss, RP | Autosomal Recessive | 15q23-q25.1 | Missense | CIB2 | 368T>C | Ile123Thr | Amino Acid Substitution | Riazuddin et al., 2012/2012 |
