| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 94 (DFNB94, NARS2) | Profound hearing impairment | Autosomal Recessive | 11q14.1 | Missense | NARS2 | 637G>T | Val213Phe | Amino Acid Substitution | 0/Simon et al., 2015 |
