| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment, nonsyndromic deafness DFNB48 (CIB2) | Hearing loss | Autosomal Recessive | 15q25.1 | Substitution | CIB2 | c.272T>C | p.(Phe91Ser) | Missense | Riazuddin et al., 2012/2012 |
| Hearing Impaiment (CIB2) | Hearing loss | Autosomal Recessive | 15q25.1 | Substitution | CIB2 | c.297C>G | p.(Cys99Trp) | Missense | Riazuddin et al., 2012/2012 |
