| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| USH2A | Usher Syndrome, Type 2A | R34X | 100C>T | exon 2 | Norwegian (2) | Dreyer 2000 |
| R63X | 187C>T | exon 2 | Danish (1) | Dreyer 2000 | ||
| T80FS | 239insCGTA | exon 2 | Iranian (1); British (1) | Adato 2000; Leroy 2001 | ||
| C163Y | 488G>A | exon 3 | Danish (1) | Dreyer 2000 | ||
| V218E | 653T>A | exon 4 | British (1) | Leroy 2001 | ||
| V230M | 690G>A | exon 4 | Danish (1); British (1) | Dreyer 2000; Leroy 2001 | ||
| L260X | 779T>G | exon 4 | Swedish (1) | Weston 2000 | ||
| S307FS | 921insCAGC | exon 6 | American (2); Danish (2); British (1) | Weston 2000; Dreyer 2000; Leroy 2001 | ||
| C319Y | 956G>A | exon 6 | Hispanic American (2) | Weston 2000 | ||
| R334W | 1000C>T | exon 6 | Moroccan (2); Danish (1) | Adato 2000; Dreyer 2000 | ||
| N346H | 1042A>C | exon 6 | Swedish (1), American (1); Danish (1), Norwegian (1) | Weston 2000; Dreyer 2000 | ||
| W409X | 1227G>A | exon 7 | Dutch (3) | Weston 2000 | ||
| C419F | 1256G>T | exon 7 | Dutch (5) | Weston 2000 | ||
| C536R | 1606T>C | exon 9 | Danish (1) | Dreyer 2000 | ||
| L555V | 1663C>G | exon 10 | British (1) | Leroy 2001 | ||
| P560FS | 1679delC | exon 10 | American (1) | Weston 2000 | ||
| Q566X | 1696C>T | exon 10 | Swedish (1) | Weston 2000 | ||
| R626X | 1876C>T | exon 11 | American (1); Danish (1); British (1) | Weston 2000; Dreyer 2000; Leroy 2001 | ||
| L654FS | 1965delT | exon 11 | Danish (1) | Dreyer 2000 | ||
| IVS11+81A>G | American (2) | Weston 2000 | ||||
| Q675X | 2023C>T | exon 12 | Danish (1) | Dreyer 2000 | ||
| G713R | 2137G>C | exon 12 | Danish (1) | Dreyer 2000 | ||
| C759F | 2276G>T | exon 13 | Danish (1) | Dreyer 2000* | ||
| *Also found in RP without hearing loss by Rivolta 2000 | ||||||
| E767FS | 2299delG* | exon 13 | N. European, Spain, African American (21 total); British (10), China (2); Danish (16), Norwegian (3); European (30), African (1); British (11) | Eudy 1998; Liu 1999; Dreyer 2000; Weston 2000; Leroy 2001 | ||
| *most common mutation | ||||||
| C847X | 2541C>A | exon 13 | African American (1) | Weston 2000 | ||
| Q933X | 2797C>T | exon 13 | Danish (2) | Dreyer 2000 | ||
| V959FS | 2878delAA | exon 14 | Danish (1) | Dreyer 2000 | ||
| T967FS | 2898delG | exon 14 | Venezualan (2) | Eudy 1998 | ||
| MR1280IX | 3840GA>CT | exon 18 | American (1) | Weston 2000 | ||
| R1295X | 3883C>T | exon 18 | Swedish (1); Norwegian (1) | Weston 2000; Dreyer 2000 | ||
| Q1447FS | 4338delCT | exon 20 | French Acadian (1) | Eudy 1998 | ||
| R1504FS | 4510insA | exon 21 | American (1) | Weston 2000 | ||
| T1515M | 4544C>T | exon 21 | Moroccan (1) | Adato 2000 | ||
| Recessive Retinitis Pigmentosa without hearing loss | C759F | 2276G>T | exon 13 | North American (10) | Rivolta 2000* | |
| *Also found in Usher2A by Dreyer 2000 |