| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (USH1G) | Hearing loss | Autosomal Recessive | 17q25.1 | Substitution | USH1G | c.511G>T | p.(Glu171*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (USH1G ) | Hearing loss | Autosomal Recessive | 17q25.1 | Delation | USH1G | c.812delC | p.(Pro271Argfs*52) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (USH1G) | Hearing loss | Autosomal Recessive | 17q25.1 | Delation | USH1G | c.812delC | p.(Pro271Argfs*52) | Frameshift | Richard et al., 2019/2019 |
