| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (DFNB110, COCH) | Hearing loss/Deafness 110 | Autosomal Recessive | 14q12 | Substitution | COCH | c.631G>T | p.Glu211Ter | Missense | Booth et al., 2020/2020 |
