| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (MVD) | Hearing loss | Autosomal Recessive | 16q24.2 | Substitution | MVD | c.1136C>A | p.(Pro379His) | Missense | Bharadwaj et al., 2022/2022 |
