| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 48 (DFNB48, CIB2) | Sensorineural hearing loss | Autosomal Recessive | 15q23-q25.1 | Missense | CIB2 | 272T>C | Phe91Ser | Amino Acid Substitution | 0/Riazuddin et al., 2012 |
| Hearing Impairment 48 (DFNB48, CIB2) | Sensorineural hearing loss | Autosomal Recessive | 15q23-q25.1 | Missense | CIB2 | 297C>G | Cys99Trp | Amino Acid Substitution | 0/Riazuddin et al., 2012 |
