| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing impairment 93 ( DFNB93, CABP2) | Hearing loss | Autosomal Recessive | 11q13.2 | Splice site | CABP2 | c.637+1G>T | - | - | 2020/Park et al., 2020 |
