| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 716T>A | Val239Asp | Amino Acid Substitution | 0/Park et al., 2003 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Nonsense | SLC26A4 | 170C>A | Ser57* | Premature Termination | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Genomic Deletion | SLC26A4 | -23177_c.164+1027del24368ins7 | 0/Anwar et al., 2009 | ||
| Hearing Impairment 4 (DFNB4, SLC26A4) | Prelingual hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 71G>T | Arg24Leu | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Prelingual hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 269C>T | Ser90Leu | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Splice site | SLC26A4 | 304+2T>C | Met103Lysfs*4 | Frame shift mutation & PTC | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Prelingual hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 416G>T | Gly139Val | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 694G>A | Val231Met | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 1115C>T | Ala372Val | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 1337A>G | Gln446Arg | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Splice site | SLC26A4 | 1341+3A>C | Gly439Valfs*19 | Frame shift mutation & PTC | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 1363A>T | Ile455Phe | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 1667A>G | Tyr556Cys | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Insertion | SLC26A4 | 1692_1693insA | Cys565Metfs*8 | Frame shift mutation & PTC | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Deletion | SLC26A4 | 1264-477_2090-4927del11202 | Genomic deletion | 0/Anwar et al., 2009 | |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Missense | SLC26A4 | 2145G>T | Lys715Asn | Amino Acid Substitution | 0/Anwar et al., 2009 |
| Hearing Impairment 4 (DFNB4, SLC26A4) | Profound hearing impairment | Autosomal Recessive | 7q31 | Deletion | SLC26A4 | 1863delT | Frame shift mutation & PTC | 0/Park et al., 2003 | |
| Hearing Impaiment (SLC26A4 ) | Hearing loss | 7q31 | Delation | SLC26A4 | c.42delC | p.(Glu15Serfs*51) | Frameshift | Richard et al., 2019/2019 | |
| Hearing Impaiment (SLC26A4) | Hearing loss | Autosomal Recessive | 7q31 | Substitution | SLC26A4 | c.154A>T | p.(Lys52*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (SLC26A4) | Hearing loss | Autosomal Recessive | 7q31 | Substitution | SLC26A4 | c.317C>T | p.(Ala106Val) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment SLC26A4) | Hearing loss | Autosomal Recessive | 7q31 | Substitution | SLC26A4 | c.1264–3C>G | Splice error | Splice error | Richard et al., 2019/2019 |
