| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (GRXCR1) | Hearing loss | Autosomal Recessive | 4p13 | Substitution | GRXCR1 | c.229C>T | p.(Gln77*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (GRXCR1) | Hearing loss | Autosomal Recessive | 4p13 | Substitution | GRXCR1 | c.655G>A | p.(Glu219Lys) | Missense | Richard et al., 2019/2019 |
