| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (GPSM2) | Hearing loss | Autosomal Recessive | 1p13.3 | Substitution | GPSM2 | c.138C>A | p.(Phe46Leu) | Missense | Richard et al., 2019/2019 |
