| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 89 (DFNB89) | moderate-to severe hearing loss | Autosomal Recessive | 16q21-q23.2 | Missense | KARS | 1129G>A | Asp377Asn | Amino Acid Substitution | 0/Santos-Cortez et al., 2013 |
