| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing impairment 2 (DFNB2, MYO7A) | Hearing loss or deafness/usher syndrome symptoms | Autosomal recessive | 11q13.5 | Missense Mutation | MYO7A | c.476G>A | Ser1168Asn | Amino acid substitution | 2020/Doll et. al 2020 |
| Hearing impairment 2 (DFNB2, MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Nonsense | MYO7A | c.1258A>T | Lys420* | PTC | 2020/Doll et al. 2020 |
| Hearing impairment 2 (DFNB2, MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Missense | MYO7A | c.1849T>C | Ser617Pro | Amino acid substitution | 2020/Doll et al. 2020 |
| Hearing impairment 2 (DFNB2, MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Missense | MYO7A | c.4505A>G | Asp1502Gly | Amino acid substitution | 2020/Doll et al. 2020 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.20G>T | p.(Gly7Val) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.93C>A | p.(Cys31*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.247C>A | p.(Arg83Ser) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A ) | Hearing loss | Autosomal Recessive | 11q13.5 | Duplication | MYO7A | c.397dupC | p.(His133Profs*7) | Frameshift | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.496delG | p.(Glu166Argfs*5) | Frameshift | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.722G>A | p.(Arg241His) | Missense | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.977T>A | p.(Leu326Gln) | Missense | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.1183C>T | p.(Arg395Cys) | Missense | Shahzad et al., 2013/2013 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.1591C>T | p.(Gln531*) | Nonsense | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.1849T>C | p.(Ser617Pro) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Delation | MYO7A | c.2339delG | p.(Gly780Valfs*10) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Duplication | MYO7A | c.3136dupC | p.(Leu1046Profs*9) | Frameshift | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.3364C>A | p.(Leu1122Ile) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.3502C>T | p.(Arg1168Trp) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.3508G>A | p.(Glu1170Lys) | Missense | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.3590T>C | p.(Leu1197Pro) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.3728C>G | p.(Pro1243Arg) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.4505A>G | p.(Asp1502Gly) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.4838delA | p.(Asp1613Valfs*32) | Frameshift | Riazuddin et al., 2008/2008 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Insertion | MYO7A | c.5326+3A>G | Splice error | Splice error | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.5345G>C | p.(Gly1782Ala) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.5434G>A | p.(Glu1812Lys) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.5522C>G | p.(Thr1841Arg) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.5660C>T | p.(Pro1887Leu) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.5856+5G>C | Splice error | Splice error | Richard et al., 2019/2019 |
| Hearing Impaiment (MYO7A) | Hearing loss | Autosomal Recessive | 11q13.5 | Substitution | MYO7A | c.2456C>A | p.(Ser819*) | Nonsense | Richard et al., 2019/2019 |
