| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment X2 (DFNX2, POU3F4) | Prelingual hearing impairment | X-Linked | Xq21.1 | Nonsense | POU3F4 | 341G>A | Trp114* | Premature Termination | 0/Waryah et al., 2011 |
| Hearing Impairment X2 (DFNX2, POU3F4) | Prelingual hearing impairment | X-Linked | Xq21.1 | Nonsense | POU3F4 | 406C>T | Gln136* | Premature Termination | 0/Waryah et al., 2011 |
| Hearing Impaiment (POU3F4) | Hearing loss | Xq21.1 | Substitution | POU3F4 | c.478C>T | p.(Gln160*) | Nonsense | Richard et al., 2019/2019 | |
| Hearing Impaiment (POU4F3) | Hearing loss | Xq21.1 | Substitution | POU4F3 | c.374C>T | p.(Pro125Leu) | Missense | Richard et al., 2019/2019 |
