| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (LHFPL5) | Hearing loss | Autosomal Recessive | 6p21.31 | Substitution | LHFPL5 | c.250delC | p.(Leu84*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (LHFPL5) | Hearing loss | Autosomal Recessive | 6p21.31 | Substitution | LHFPL5 | c.452 G>T | p.(Gly151Val) | Missense | Richard et al., 2019/2019 |
