| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| USH1C | Nonsyndromic Recessive Hearing Loss | G431V | G>T | exon B | American (1) | Ouyang 2002 |
| P608R | C>G | exon D | Chinese (1) | Ouyang 2002 | ||
| R620L | G>T | exon D | American (1) | Ouyang 2002 | ||
| R636C | C>T | exon D | American (1) | Ouyang 2002 | ||
| Usher Syndrome, Type 1C | IVS1+1G>T | European (1) | Zwaenepoel 2001 | |||
| R31X | 91C>T | exon 2 | European (1) | Zwaenepoel 2001 | ||
| No Change | 216G>A | exon 3 | Acadian (French) (1) | Bitner-Glindzicz 2000 | ||
| 233insC | exon 3 | Pakistani (1); European Muslim (1); European German (1) | Bitner-Glindzicz 2000; Verpy 2000; Verpy 2000 | |||
| IVS5-2delA | Lebanese (2) | Verpy 2000 | ||||
| IVS5+1G>A | European (1) | Zwaenepoel 2001 | ||||
| 9VNTR | 45bp repeat | intron 5 | Acadian (French) (7) | Verpy 2000 | ||
| 122,815bp del | 19 of 21 exons | Arabic (2) | Bitner-Glindzicz 2000 |