| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (USH2A) | Hearing loss | Autosomal Recessive | 1q41 | Substitution | USH2A | c.3661C>T | p.(Gln1221*) | Nonsense | Richard et al., 2019/2019 |
