| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 23 (PCDH15) | severe to profound hearing loss | Autosomal Recessive | 10q21.1 | Missense Mutation | PCDH15 | 3101G>A | Arg1034His | Missense Mutation and PTC | 0/Schrauwen I et.al,...2018 |
| Hearing Impaiment (PCDH15) | Hearing loss | Autosomal Recessive | 10q21.1 | Delation | PCDH15 | deletion of exons 14 and 15 | deletion of exons 14 and 15 | deletion of exons 14 and 15 | Richard et al., 2019/2019 |
| Hearing Impaiment (PCDH15) | Hearing loss | Autosomal Recessive | 10q21.1 | Substitution | PCDH15 | c.400C>G | p.(Arg134Gly) | Missense | Ahmed et al., 2003/2003 |
| Hearing Impaiment (PCDH15) | Hearing loss | Autosomal Recessive | 10q21.1 | Substitution | PCDH15 | c.788C>A | p.(Pro263Gln) | Missense | Richard et al., 2019/2019 |
