| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (SERPINB6) | Hearing loss/Deafness 91 | Autosomal Recessive | 6p25.2 | Substitution | SERPINB6 | c.1079G>A | p.(Arg360Gln) | Missense | Mahmood et al., 2021/2021 |
