| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| PDS (SLC26A4) | DFNB4 | IVS2-2A>G | Italian (1) | Lopez-Bigas 2001 | ||
| T132I | 395C>T | Italian (1) | Lopez-Bigas 2001 | |||
| G209V | 626G>T | exon 6 | Caucasian (1) | Usami 1999 | ||
| Found in Pendred by Van-Huawe 1998 | ||||||
| L236P | 707T>C | exon 6 | American (1) | Scott 2000 | ||
| X308/wt | 917delT | exon 7 | Japanese (1) | Usami 1999 | ||
| K369E | 1105A>G | exon 9 | Japanese (1) | Usami 1999 | ||
| A372V | 1115C>T | exon 9 | Japanese (1) | Usami 1999 | ||
| T410M | 1229C>T | exon 10 | Italian (1) | Lopez-Bigas 2001 | ||
| Found in Pendred by Coyle 1998 | ||||||
| T416P/wt | recessive? | American (1) | Scott 2000 | |||
| Found in Pendred by Van-Huawe 1998 | ||||||
| V480D | 1440T>A | exon 13 | American (1) | Scott 2000 | ||
| Found in Pendred by Van Hauwe 1998 | ||||||
| I490L | 1468A>C | exon 13 | Indian (1) | Li 1998 | ||
| G497S | 1489G>A | exon 13 | Indian (1) | Li 1998 | ||
| V653A/wt | recessive? | American (1) | Scott 2000 | |||
| Found with CX26 35delG heterozygous | ||||||
| Found in Pendred by Campbell 2001 | ||||||
| T721M | 2162C>T | exon 19 | Japanese (1) | Usami 1999 | ||
| Found in Pendred by Lopez-Bigas 2001 | ||||||
| X722 | 2111insGCTGC | exon 19 | Japanese (1) | Usami 1999 | ||
| H723R | 2168A>G | exon 19 | Japanese (3); Japanese (1) | Usami 1999; Ishinaga 2002 | ||
| Found in Pendred by Van-Huawe 1998 | ||||||
| Pendred Syndrome | E29Q | 85G>C | exon 2 | N/A (1) | Campbell 2001 | |
| X96 | 279delT | exon 3 | Brazilian (1) | Kopp 1999 | ||
| Y105C | 314A>G | exon 4 | N/A (1) | Campbell 2001 | ||
| A106D | 317C>A | exon 4 | N/A (1) | Campbell 2001 | ||
| X180 | 336-337insT | exon 4 | N/A (1) | Coyle 1998 | ||
| FS135 | 406del5 | exon 4 | Spanish (1) | Lopez-Bigas 2001 | ||
| V138F | 412G>T | exon 4 | Belgian (1); N/A (1); N/A (1) | Van-Huawe 1998; Coyle 1998; Cambpell 2001 | ||
| X141 | IVS4+7A>G | exon 4 | Spanish (1) | Lopez-Bigas 1999 | ||
| G139A | 416G>C | exon 5 | Dutch (1) | Van-Huawe 1998 | ||
| T193I | 580C>T | exon 5 | Middle Eastern (1) | Adato 2000 | ||
| G209V | 626G>T | exon 6 | Belgian (1); N/A (2) | Van-Huawe 1998; Campbell 2001 | ||
| L236P | 707T>C | exon 6 | Dutch (4), American (1), Danish (1), Belgian (1); N/A (10); N/A (1) | Van-Huawe 1998; Coyle 1998; Campbell 2001 | ||
| Found in DFNB4 by Scott 2000 | ||||||
| X286 | 753delCTCT | exon 6 | N/A (1) | Coyle 1998 | ||
| X286 | 783-784insT | exon 7 | N/A (1) | Campbell 2001 | ||
| D271H | 811G>C | exon 7 | Turkish (1) | Van-Huawe 1998 | ||
| 918+1G>A | IVS7+1G>A | intron 7 | Indian (1) | Van-Huawe 1998 | ||
| IVS7-2A>G | intron 7 | Turkish (1) | Couke 1999 | |||
| 1001+1G>A | IVS8+1G>A | intron 8 | N/A (9); Italian (1); N/A (7) | Coyle 1998; Bogazzi 2000; Campbell 2001 | ||
| F335L | 1003T>C | exon 9 | N/A (1) | Campbell 2001 | ||
| FS383 | 1149delC | exon 9 | Dutch (1) | Van-Huawe 1998 | ||
| E384G | 1151A>G | exon 10 | N/A (6) | Coyle 1998 | ||
| FS400, X431 | 1197delT | exon 10 | Arabic (1); Lebanon (1) Italian (1); Spanish (1) | Everett 1997; Van-Hauwe 1998, Fugazzola 2000; Lopez-Bigas 2001 | ||
| R409H | 1226G>A | exon 10 | Turkish (1); N/A (1) | Van-Huawe 1998, Coyle 1998 | ||
| T410M | 1229C>T | exon 10 | N/A (1) | Coyle 1998 | ||
| Found in DFNB4 by Lopez-Bigas 2001 | ||||||
| T416P | 1246A>C | exon 10 | Dutch (4), Danish (1); N/A (7); N/A (5) | Van-Huawe 1998; Coyle 1998; Campbell 2001 | ||
| Found in DFNB4 by Scott 2000 | ||||||
| A429del | 1284delTGC | exon 11 | N/A (1) | Coyle 1998 | ||
| L445W | 1334T>G | exon 11 | Dutch (1); Turkish (1); Southern Tunisian (2); Italian (1) | Van-Huawe 1998; Couke 1999; Masmoudi 2000; Lopez-Bigas 2001 | ||
| X454 | 1341delG | exon 12 | Arabic (1) | Everett 1997 | ||
| X467 | 1334insAGTC | exon 12 | N/A (1) | Coyle 1998 | ||
| V480D | 1440T>A | exon 13 | N/A (1) | Campbell 2001 | ||
| T508N | 1523C>A | exon 13 | Italian (1) | Bogazzi 2000 | ||
| X524 | 1536delAG | exon 13 | N/A (1) | Coyle 1998 | ||
| Y530H | 1588T>C | exon 14 | N/A (1); N/A (2) | Coyle 1998; Campbell 2001 | ||
| Y556C | 1667A>G | exon 15 | N/A (1) | Coyle 1998 | ||
| Y556H | 1666T>C | exon 15 | Italian (1) | Lopez-Bigas 2001 | ||
| C565Y | 1918G>A | exon 15 | American (1) | Van-Huawe 1998 | ||
| L597S | 1790T>C | exon 16 | N/A (3) | Campbell 2001 | ||
| S610X | Japanese (1) | Kiyomizu 2002 | ||||
| FS634 | 1898del A | exon 17 | Belgian (1) | Van-Huawe 1998 | ||
| V653A | 1958T>C | exon 17 | N/A (1) | Campbell 2001 | ||
| Found in DFNB4 by Scott 2000 | ||||||
| S657N | exon 17 | Japanese (1) | Kiyomizu 2002 | |||
| F667C | 2000T>G | exon 17 | Arabic (1) | Everett 1997 | ||
| G672E | 2015G>T | exon 17 | N/A (1); N/A (2) | Coyle 1998; Campbell 2001 | ||
| X719 | 2127delT | exon 19 | N/A (1) | Coyle 1998 | ||
| T721M | 2162C>T | exon 19 | Italian (2) | Lopez-Bigas 2001 | ||
| Homozygote had hypothyroidsim, but not goiter | ||||||
| Found in DFNB4 by Usami 1999 | ||||||
| H723R | 2168A>G | exon 19 | Dutch (1); Japanese (1) | Van-Huawe 1998; Ishinaga 2002 | ||
| Found in DFNB4 by Usami 1999 | ||||||
| Y728X | 2182insG | exon 19 | Italian (1) | Fugazzola 2000 | ||
| X781W | 2343A>G | Italian (1) | Lopez-Bigas 2001 | |||