| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (SIX5) | Hearing loss | Autosomal Recessive | 19q13.32 | Substitution | SIX5 | c.44G>C | Gly15Arg | Missense | Kakar et al., 2022/2022 |
