| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| CDH23 | DFNB12 | D124G | 371A>G | exon 5 | European (1) | Astuto 2002 |
| N452S | 1355A>G | exon 13 | European (1) | Astuto 2002 | ||
| L480Q | 1439T>A | exon 13 | African American (1) | Astuto 2002 | ||
| R582Q | 1745G>A | exon 15 | Dutch (1) | Astuto 2002 | ||
| D990N | G>A | N/A | Pakistani (1) | Bork 2001 | ||
| R1060W | 3178C>T | exon 26 | European (1) | Astuto 2002 | ||
| G1186D | 3557G>A | exon 29 | African American (1) | Astuto 2002 | ||
| D1351N (hets) | exon 31 | Dutch | Kremer MBHD 2001 | |||
| A1586P | 4756G>C | exon 37 | Pakistani (1) | Astuto 2002 | ||
| E1595K | 4783G>A | exon 37 | European (1) | Astuto 2002 | ||
| D1846N | 5536G>A | exon 42 | European (1) | Astuto 2002 | ||
| D2045N | G>A | N/A | Pakistani (1) | Bork 2001 | ||
| D2148N | 6442G>A | exon 47 | N/A (1), German (1) | Astuto 2002 | ||
| D2202N | G>A | N/A | Pakistani (1) | Bork 2001 | ||
| R2465W | 7393C>T | exon 52 | European (1) | Astuto 2002 | ||
| R2608H | 7823G>A | exon 54 | German (1) | Astuto 2002 | ||
| I2950N | T>A | N/A | Indian (1) | Bork 2001 | ||
| R2956C | C>T | N/A | Indian (1) | Bork 2001 | ||
| P3059T | C>A | N/A | Indian (1) | Bork 2001 | ||
| Usher Syndrome, Type 1D | Q58X | 172C>T | exon 3 | Swedish (1) | Astuto 2002 | |
| 193delC | exon 3 | European (1) | Astuto 2002 | |||
| 336G>C | exon 4 | German/Swiss (1) | Von Brederlow 2002 | |||
| Questionable polymorphism | ||||||
| IVS4+1G>A | exon 4 | Swedish (5), N/A (3) | Astuto 2002 | |||
| 1087delG | exon 10 | Mexican/Native American (1) | Astuto 2002 | |||
| 1112delT | exon 10 | European (2) | Astuto 2002 | |||
| A484P | 1450G>C | exon 14 | N/A (1) | Astuto 2002 | ||
| Q492X | C>T | N/A | Pakistani (1) | Bork 2001 | ||
| IVS20+1G>A | exon 20 | Dutch (1), European (1), Spanish (1) | Astuto 2002 | |||
| T1035T | 3105A>C | exon 25 | European (1) | Astuto 2002 | ||
| P1206R | 3617C>G | exon 30 | Spanish (1) | Astuto 2002 | ||
| T1209A | 3625A>G | exon 30 | N/A (1) | Astuto 2002 | ||
| 3840insATGA | exon 31 | European (1) | Astuto 2002 | |||
| 1281delM | 3841del3 | N/A | German (1) | Bolz 2001 | ||
| IVS23+1G>A | Pakistani (1) | Bork 2001 | ||||
| R1305X | C>T | N/A | Pakistani (1) | Bork 2001 | ||
| Q1496H | IVS35-1G>C | exon 35 | Cuban (1); Spanish (1) | Bolz 2001; Astuto 2002 | ||
| R1502X | 4504C>T | exon 36 | Swedish (4) | Astuto 2002 | ||
| R1746Q | 5237G>A | exon 40 |
Cuban (1); European (2), Irish (1), German (1) |
Bolz 2001; Astuto 2002 | ||
| Silent | 5712G>A | exon 42 | German/Swiss (1) | Von Brederlow 2002 | ||
| IVS44+1G>A | Pakistani (1) | Bork 2001 | ||||
| IVS45-9G>A | German/Swiss (2); Dutch (1), Spanish (1), German (1), Pakistani (2) | Von Brederlow 2002; Astuto 2002 | ||||
| 6155delC | exon 46 | European (1) | Astuto 2002 | |||
| E2103X | 6307G>T | exon 47 | German (1) | Astuto 2002 | ||
| 6933delT | N/A | German/Swiss (1) | Von Brederlow 2002 | |||
| 6968delC | exon 49 | European (1) | Astuto 2002 | |||
| IVS51+5G>A | German (1); German/Swiss (1) | |||||
| S2517G | 7549A>G | exon 53 | N/A (1) | Astuto 2002 | ||
| E2624E | 7872G>A | exon 54 | N/A (1) | Astuto 2002 | ||
| G2744S | 8230G>A | exon 57 | Sephardic Jewish (1) | Astuto 2002 | ||
| R2833G | 8497C>G | exon 58 | Swedish (1) | Astuto 2002 | ||
| R3175H | 9524G>A | exon 67 | N/A (1) | Astuto 2002 | ||
| 9626insC | exon 68 | Swedish (1) | Astuto 2002 | |||