| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (ADGRV1) | Hearing loss | Autosomal Recessive | 5q14.3 | Substitution | ADGRV1 | c.1055C>T | p.(Pro352Leu) | Missense | Richard et al., 2019/2019 |
