| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (PTPRQ) | Hearing loss | Autosomal Recessive | 12q21.31 | Delation | PTPRQ | c.5158_5159delAT | p.(Ile1720Glnfs*7) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (PTPRQ) | Hearing loss | Autosomal Recessive | 12q21.31 | Substitution | PTPRQ | c.6739–1G>A | Splice error | Splice error | Richard et al., 2019/2019 |
| Hearing Impaiment (PTPRQ) | Hearing loss/Deafness 84A | Autosomal Recessive | 12q21.31 | Splice site substitution | PTPRQ | c.55-2A>G | N/A | Mahmood et al., 2021/2021 |
