| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | 830A>G | Tyr277Cys | Amino Acid Substitution | 0/Santos et al., 2005 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | 1114G>A | Val372Met | Amino Acid Substitution | 0/Santos et al., 2005 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | 1334G>A | Arg445His | Amino Acid Substitution | 0/Santos et al., 2005 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | 2004T>G | Ser668Arg | Amino Acid Substitution | 0/Santos et al., 2005 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | 2035G>A | Glu679Lys | Amino Acid Substitution | 0/Santos et al., 2005 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Splice site | TMC1 | IVS511G>T | IVS5 | Frame shift mutation | 0/Kitajiri et al., 2007 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Missense | TMC1 | 1541C>T | Pro514Leu | Amino Acid Substitution | 0/Kitajiri et al., 2007 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Missense | TMC1 | 1543T>C | Cys515Arg | Amino Acid Substitution | 0/Kitajiri et al., 2007 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Splice site | TMC1 | 536 -8T>A | Exon 11 skipped | Frame shift mutation | 0/Santos et al., 2005 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Missense | TMC1 | 1788C>A | Ser596Arg | Amino Acid Substitution | 0/Imtiaz et al., 2016 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Missense | TMC1 | 596A>T | Asn199Ile | Amino Acid Substitution | 0/Imtiaz et al., 2016 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Splice site | TMC1 | 1404 +1G>T | Frame shift mutation | 0/Imtiaz et al., 2016 | |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Nonsense | TMC1 | 100C>T | Arg34* | Premature Termination | 0/Imtiaz et al., 2016 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q34.3 | Missense | TMC1 | 1166G>A | Arg389Gln | Amino Acid Substitution | 0/Hilgert et al., 2008 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Splice site | TMC1 | c.362+18A>G | p.? | Frameshift | 2014/Shafique et al. 2014 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Nonsense | TMC1 | c.945G>A | Trp315* | PTC | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Nonsense | TMC1 | c.1143C>G | Tyr381* | PTC | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Nonsense | TMC1 | c.1209G>A | Trp403* | PTC | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Splice site | TMC1 | c.1224+2T>C | p.? | ? | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | c.1259G>A | Cys420Tyr | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | c.1333C>T | Arg445Cys | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | c.1363T>C | Tyr454His | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | c.1728C>G | Asn576Lys | Amino acid substitution | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Insertion | TMC1 | c. 1753_1754insA | Asn407Lysfs*2 | Frameshift and PTC | 2019/Richard et al. 2019 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Missense | TMC1 | c.1543C>T | Cys515Arg | Amino acid substitution | 2007/Kitajiri et al. 2007 |
| Hearing Impairment 7/11 (DFNB7/11, TMC1) | Severe to profound hearing loss | Autosomal Recessive | 9q21.13 | Nonsense | TMC1 | c.1810C>T | Arg604* | PTC | 2019/Richard et al. 2019 |
