| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| SOX10 | Waardenburg IV | 168delG | exon 3 | Chinese (1) | Sham 2001 | |
| Y83X | 249C>A | exon 3 | N/A (1) | Pingault 1998 | ||
| 161 | 482ins6(GCTCCG) | exon 4 | N/A (1) | Pingault 1998 | ||
| E189X | 565G>T | exon 4 | N/A (1) | Pingault 1998 | ||
| Y207X | exon 4 | N/A (1) | Southard-Smith 1999 | |||
| S251X | 752C>A | exon 5 | French (1) | Touraine 2000 | ||
| Y313X | 939C>A | exon 5 | German (1), French (1) | Touraine 2000 | ||
| X at 400 | 1076delGA | exon 5 | N/A (1) | Pingault 1998 | ||
| Q377X | N/A | exon 5 | N/A (1) | Southard-Smith 1999 | ||
| X467C | 1400del12 | exon 5 | Japanese (1) | Inoue 1999* | ||
| *+severe leukodystrophy and demyelinating neuropathy | ||||||
| X467K | T>A | exon 5 | Chinese (1) | Sham 2001 | ||
| N/A | N/A | N/A | N/A | Tomiyama 2001 | ||
| Peripheral nueropathy with hypomyelination +deafness | 265 | 795delG | exon 5 | N/A (1) | Pingault 2000 | |
| Yemenite Deaf-Blind Hypopigmentation (Mild) | S135T | G>C | exon 3 | Yeminite? (1) | Bondurand 1999 |