| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| MITF | Waardenburg II | IVS1+1G>A | N/A (1); S. Australian (1) | Tassabehji 1994; 1995 | ||
| IVS4-2A>C | N/A (1) | Tassabehji 1994 | ||||
| R214X | 760C>T | exon 7 | Northern European (1); Indian (1) | Nobukini 1996; Lalwani 1998 | ||
| S250P | T>C | exon 8 | N/A (1) | Tassabehji 1995 | ||
| Y253C | exon 8 | ??? | ||||
| R259X | 895 C>T | exon 8 | N/A (1) | Nobukini 1996 | ||
| N278D | A>G | exon 8 | N/A (1) | Tassabehji 1995 | ||
| S298P | T>C | exon 9 | N/A (1) | Tassabehji 1995 | ||
| 275 | 944delA | exon 8 | N/A (1) | Morell 1997* | ||
| *digenic with ocular albinism | ||||||
| Tietz Syndrome | IVS5 CG>GC | N/A (1) | Smith 1997 | |||
| D207K | exon 6 | N/A (1) | Smith 1997 | |||
| N210K | 600 C>G | exon 6 | US/Irish (1) | Smith 2000 | ||
| 217delR | del3 | exon 7 | N/A (1) | Tassebehji 1995 |