| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Deletion & Insertion | SLC26A4 | Exon1-2 Deletion | Genomic deletion | Anwar et al., 2009/2009 | |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 71G>T | Arg24Leu | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Nonsense | SLC26A4 | 170C>A | Ser57* | Premature Termination | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 269C>T | Ser90Leu | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Splice site | SLC26A4 | 304+2T>C | Met103Lysfs*4 | Frame shift mutation & PTC | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 416G>T | Gly139Val | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 416G>T | Gly139Val | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 694G>A | Val231Met | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 716T>A | Val239Asp | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 1115C>T | Ala372Val | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 1337A>G | Gln446Arg | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Splice site | SLC26A4 | 1341+3A>C | Gly439Valfs*19 | Frame shift mutation & PTC | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 1363A>T | Ile455Phe | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 1667A>G | Lys556Cys | Amino Acid Substitution | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Insertion | SLC26A4 | 1692_1693insA | Cys565Metfs*8 | Frame shift mutation & PTC | Anwar et al., 2009/2009 |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Gross Deletion | SLC26A4 | 11-18 exons deletion | Genomic deletion | Anwar et al., 2009/2009 | |
| Pendred?s Syndrome (SLC26A4) | sensorineural hearing loss and goiter | Autosomal Recessive | 7q22.3 | Missense | SLC26A4 | 2145G>T | Lys715Asn | Amino Acid Substitution | Anwar et al., 2009/2009 |
