| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 59 (DFNB59, PJVK) | moderate-to severe hearing loss | Autosomal Recessive | 2q31.2 | Missense | PJVK | 1028 G>C | Cys343Ser | Amino Acid Substitution | 0/Mujtaba et al., 2012 |
| Hearing Impaiment (PJVK) | Hearing loss | Autosomal Recessive | 2q31.2 | Substitution | PJVK | c.158C>G | p.(Ser53*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (PJVK) | Hearing loss | Autosomal Recessive | 2q31.2 | Delation | PJVK | c.162_172del | p.(Pro55Glufs*23) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (PJVK) | Hearing loss | Autosomal Recessive | 2q31.2 | Substitution | PJVK | c.406C>T | p.(Arg136*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (PJVK) | Hearing loss | Autosomal Recessive | 2q31.2 | Delation | PJVK | c.908_910delACA | p.(Asn303del) | Richard et al., 2019/2019 | |
| Hearing Impaiment (DFNB59,PJVK) | Hearing loss/Deafness 59 | Autosomal Recessive | 2q31.2 | Substitution | DFNB59/PJVK | c.494G>A | p.Ser165Asn | Missense | Zhou et al., 2020/2020 |
