| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| USH3 | Usher Syndrome, Type 3 | N48K | 144T>G | exon 1 | Ashkenazi Jewish (5) | Fields 2002 |
| 149delCAGG/ insTGTCCAAT | exon 1 | Scottish-Irish (1), N. European (1) | Fields 2002 | |||
| 165delC | exon 1 | Dutch (1) | Fields 2002 | |||
| M120K | 359T>A | exon 1 | Finnish (2) | Joensuu 2001 | ||
| L150P | 449T>C | exon 3 | Ashkenazi Jewish (1) | Fields 2002 | ||
| IL153M | 459-461delATT | exon 3 | Italian (1) | Joensuu 2001 | ||
| Y176X | 528T>G | exon 3 | Finnish (52); Finnish (3), Swedish (2), Scottish-Irish (1) | Joensuu 2001; Fields 2002 |