| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (CLCNKA ) | Hearing loss | Autosomal Recessive | 1p36.13 | Substitution | CLCNKA | c.1985G>T | p.(Gly662Val) | Missense | Richard et al., 2019/2019 |
