| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Insertion/Deletion | OTOF | 1103_1104delinsC | Gly368Alafs*2 | Frame shift mutation & PTC | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Nonsense | OTOF | 1273C>T | Arg425* | Premature Termination | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Nonsense | OTOF | 1607G>A | Trp536* | Premature Termination | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Nonsense | OTOF | 2122C>T | Arg708* | Premature Termination | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Nonsense | OTOF | 4809C>A | Lys1603* | Premature Termination | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Deletion | OTOF | 295_2297del | Glu766del | 0/Choi et al., 2009 | |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Missense | OTOF | 1718T>G | Leu573Arg | Amino Acid Substitution | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Missense | OTOF | 3269C>A | Ala1090Glu | Amino Acid Substitution | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Missense | OTOF | 5197G>A | Glu1733Lys | Amino Acid Substitution | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Missense | OTOF | 5567G>A | Arg1856Gln | Amino Acid Substitution | 0/Choi et al., 2009 |
| Hearing Impairment 9 (DFNB9, OTOF) | severe to profound hearing loss | Autosomal Recessive | 2p23.3 | Missense | OTOF | 5815C>T | Arg1939Trp | Amino Acid Substitution | 0/Choi et al., 2009 |
| Hearing Impaiment (OTOF) | Hearing loss | Autosomal Recessive | 2p23.3 | Substitution | OTOF | c.1550T>C | p.(Leu517Pro) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment OTOF ) | Hearing loss | Autosomal Recessive | 2p23.3 | Substitution | OTOF | c.1904T>A | p.(Val635Asp) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (OTOF) | Hearing loss | Autosomal Recessive | 2p23.3 | Delation | OTOF | c.2965_2967delTTC | p.(Phe989del) | Naz et al., 2017/2017 | |
| Hearing Impaiment (OTOF) | Hearing loss | Autosomal Recessive | 2p23.3 | Duplication | OTOF | c.3376dupA | p.(Ile1126Asnfs*5 | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (OTOF) | Hearing loss | Autosomal Recessive | 2p23.3 | Substitution | OTOF | c.3514C>T | p.(Arg1172Trp) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (OTOF) | Hearing loss | Autosomal Recessive | 2p23.3 | Substitution | OTOF | c.4799+1G>A | Splice error | Splice error | Richard et al., 2019/2019 |
| Hearing Impaiment (OTOF) | Hearing loss | Autosomal Recessive | 2p23.3 | Substitution | OTOF | c.5714G>T | p.(Gly1905Val) | Missense | Richard et al., 2019/2019 |
