| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| MYO7A | DFNA11 | 886del | 9bp del | exon 22 | Japanese (1) | Liu 1997b |
| DFNB2 | IVS3-2A>G | Chinese (1) | Liu 1997a | |||
| R244P | G>C | exon 7 | Chinese (1) | Liu 1997a | ||
| M599I | 1797 G>A | exon 15 | Tunisian (1) | Weil 1997 | ||
| V1199insT[FS] | 3596insT | exon 28 | Chinese (1) | Liu 1997a | ||
| Usher Syndrome, Type 1B | L16X | T>A | exon 3 | Danish or German (1) | Janecke 1999 | |
| G25R | 73C>A | exon 3 | N/A (1) | Levy 1997 | ||
| A26E | C>A | exon 3 | Italian (1) | Bharadwaj 2000 | ||
| C31X | C>A | exon 3 | Swedish (1), Dutch (1); Danish (1) | Weston 1996; Janecke 1999 | ||
| V67M | G>A | exon 4 | Indian/French (1) | Bharadwaj 2000 | ||
| 75 | delG | exon 4 | Australian (1); Italian (1) | Weston 1996; Bharadwaj 2000 | ||
| R90P | G>C | exon 4 | Irish/French (1) | Bharadwaj 2000 | ||
| 119 | delC | exon 5 | Dutch (1) | Weston 1996 | ||
| I134N | T>A | exon 5 | Irish/French (1) | Bharadwaj 2000 | ||
| R150X | 448C>T | exon 5 | N/A (1), N/A (1) | Weil 1995, Levy 1997 | ||
| T165M | ?? | |||||
| IVS5+1G>A | Tunisian (1) | Adato 1997 | ||||
| R212C | C>T | exon 7 | American (2), Dutch (1), Belgian (1) | Weston 1995 | ||
| R212H | G>A | exon 7 | American (1), Dutch (1)*, Belgian (1)* | Weston 1995 | ||
| *Same allele as R302H in one Dutch and one Belgian family | ||||||
| G214R | G>A | exon 7 | Moroccan (1) | Adato 1997 | ||
| delD218, I219 | 652delGACATC | exon 7 | N/A (1), N/A (2) | Weil 1995, Levy 1997 | ||
| Q234X | 700C>T | exon 7 | N/A (1), N/A (1) | Weil 1995, Levy 1997 | ||
| R241S | C>A | exon 7 | Danish or German (1) | Janecke 1999 | ||
| R241C | C>T | exon 7 | English/Scottish (1), N/A (1) | Bharadwaj 2000 | ||
| 269delK | delAAG | exon 8 | French/Italian (1) | Bharadwaj 2000 | ||
| R302H | G>A | exon 9 | Dutch (2)*, Swedish (1), Belgain (1)* | Weston 1996 | ||
| *Same allele as R212H in one Dutch and one Belgian family | ||||||
| E314X | G>T | exon 9 | American (1) | Weston 1996 | ||
| Y333X | T>G | exon 9 | American (1) | Weston 1996 | ||
| A397D | 1190C>A | exon 11 | Bulgarian/Hungarian (1), Iranian (1); Spanish (1) | Adato 1997; Najera 2002 | ||
| E450Q | G>C | exon 13 | American (1) | Weston 1996 | ||
| A457V | C>T | exon 13 | Irish/French (1) | Bharadwaj 2000 | ||
| 468insQ | insGCA | exon 13 | American (2) | Weston 1996 | ||
| P503L | C>T | exon 13 | American (1) | Weston 1996 | ||
| G519D | G>A | exon 14 | Native American (1) | Bharadwaj 2000 | ||
| 520 | 809delC | exon 14 | N/A (1); British (1) | Levy 1997; Liu 1997 | ||
| IVS13-8C>G | American (1) | Weston 1996 | ||||
| IVS13-1G>C | Scottish/Irish (1) | Bharadwaj 2000 | ||||
| 531 | delA | exon 14 | American (1) | Weston 1996 | ||
| 542insK | insC | exon 14 | Italian (1); Irish/Polish/German (1) | Bharadwaj 2000 | ||
| C628X | 1884C>A | exon 16 | Spanish (1) | Najera 2002 | ||
| R634X | C>T | ?? | ||||
| L651P | T>C | exon 17 | British (1) | Liu 1998 | ||
| R666X | C>T | exon 17 | Danish or German (1) | Janecke 1999 | ||
| I668X | ?? | |||||
| R669X | C>T | ?? | ||||
| IVS18+1G>A | Polish/Latvian (1) | Adato 1997 | ||||
| R756Y | ?? | |||||
| Q821X | 2461C>T | exon 21 | Spanish (3) | Najera 2002 | ||
| A826T | G>A | exon 21 | Algerian (1), Moroccan (5), Algerian/Moroccan (1) | Adato 1997 | ||
| G955S | 2863G>A | exon 22 | N/A (1) | Levy 1997 | ||
| E960X | G>T | exon 23 | Danish or German (1) | Janecke 1999 | ||
| E968D | G>T | exon 23 | Irish/Swedish (1), Irish/French/Lithuanian (1) | Bharadwaj 2000 | ||
| IVS24-21G>A | Danish or German (1) | Janecke 1999 | ||||
| K1080X | 3238A>T | exon 25 | Spanish (1); Spanish (1) | Cuevas 1999; Najera 2002 | ||
| 1087, 1089 | T>C, delG | exon 25 | Jewish | ?? | ||
| E1170K | 3508G>A | exon 28 | Spanish (1); Spanish (2) | Cuevas 1999; Najera 2002 | ||
| IVS28+2T>A | N/A (1) | Levy 1997 | ||||
| R1240Q | G>A | exon 29 | Danish or German (1); English/French (1) | Janecke 1999; Bharadwaj 2000 | ||
| A1288P | G>C | exon 30 | Danish or German (1); English (1) | Janecke 1999; Bharadwaj 2000 | ||
| E1327K | 3979C>A | exon 31 | Spanish (1) | Najera 2002 | ||
| R1343S | G>C | exon 31 | Danish or German (1) | Janecke 1999 | ||
| 1346delF | delTTC | exon 31 | French/Italian (1) | Bharadwaj 2000 | ||
| del1347-1351 | 4039del15 | exon 31 | Spanish (1) | Najera 2002 | ||
| T1566M | 4698C>T | exon 35 | Spanish (1) | Najera 2002 | ||
| R1602Q | G>A | exon 35 | British (1), ?? | Liu 1998, Weston 1998 | ||
| A1628S | G>T | exon 36 | Danish or German (1) | Janecke 1999 (1) | ||
| Y1719C | 5156A>G | exon 37 | Spanish (1); Danish of German (1); Spanish (2) | Cuevas 1999; Janecke 1999; Najera 2002 | ||
| R1743W | C>T | exon 38 | English (1) | Bharadwaj 2000 | ||
| Q1798X | C>T | exon 39 | Danish or German (1); English/French (1), German/English (1) | Janecke 1999; Bharadwaj 2000 | ||
| L1858P | T>C | exon 40 | Canadian (1) | Bharadwaj 2000 | ||
| R1861X | C>T | exon 40 | Samarian (1) | Adato 1997 | ||
| IVS40-2G>A | exon 41 | French/Italian (1) | Bharadwaj 2000 | |||
| P1887L | C>T | exon 41 | Canadian (1) | Bharadwaj 2000 | ||
| A2009FS | 6025delG | exon 44 | Spanish (2) | Najera 2002 | ||
| 2018FS | delG | exon 44 | English/Scottish (1), English/Scandinavian (1) | Bharadwaj 2000 | ||
| 2064 | delC | exon 45 | Moroccan (2) | Adato 1997 | ||
| G2137E | 6409G>A | exon 46 | N/A (1) | Levy 1997 | ||
| del >2kb | exon 47-49 | Tunisian (1) | Adato 1997 | |||
| G2163S | G>A | exon 48 | Danish or German (1) | Janecke 1999 | ||
| G2187D | G>A | exon 49 | Irish/Swedish (1) | Bharadwaj 2000 | ||