| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| PAX3 | Waardenburg I/III | IVS1-2A>T | Japanese (1) | Soejima 1997 | ||
| 100ins1 | ?? | |||||
| F45L | T>C | exon 2 (PD) | N/A (1) | Tassabehji 1994 | ||
| N47H | A>C | exon 2 (PD) | N/A (1) | Hoth 1993 | ||
| G48R | G>C | exon 2 (PD) | Am Indian/English/Irish (1) | Pandya 1996 | ||
| P50L | C>T | exon 2 (PD) | Brazilian (1) | Baldwin 1992 | ||
| R56L | G>T | exon 2 (PD) | N/A (1) | Hoth 1993 | ||
| 56 | 169delC | exon 2 (PD) | French (1) | Pandya 1996 | ||
| I59F | A>T | exon 2 (PD) | Japanese (1) | Soejima 1997 | ||
| V60M | 178G>A | exon 2 (PD) | N/A (1) | Baldwin 1995 | ||
| 61del6 | 185del18 | exon 2 (PD) | N/A (1) | Tassabehji 1992 | ||
| M62V | A>G | exon 2 (PD) | N/A (1); N/A (1) | Pierpont 1994; Hol 1998 | ||
| 63 | insG | exon 2 (PD) | N/A (1) | Morell 1993 | ||
| 63 | 191del17 | exon 2 (PD) | N/A (1) | Tassabehji 1995 | ||
| S73L | 218 C>T | exon 2 (PD) | Iranian (1) | Sotirova 2000 | ||
| Q75X | 223C>T | exon 2 (PD) | Italian (1) | Pandya 1996 | ||
| V78M | G>A | exon 2 (PD) | N/A (1) | Tassabehji 1995 | ||
| G81A | G>C | exon 2 (PD) | N/A (1) | Tassabehji 1993 | ||
| S84F | C>T | exon 2 (PD) | Palestinian (1) | Zlotogora 1995 | ||
| K85E | 253A>G | exon 2 (PD) | N/A (1) | Baldwin 1995 | ||
| 88 | 266del14 | exon 2 (PD) | Indonesian (1) | Morell 1992 | ||
| 95 | 288delA | exon 2 (PD) | N/A (1) | Tassabehji 1993 | ||
| G99D | G>A | exon 2 (PD) | N/A (1) | Tassabehji 1994 | ||
| 297del28 | exon 3 (PD) | N/A (1) | Baldwin 1994 | |||
| 119 | 358delG | exon 3 (PD) | N/A (1) | Tassabehji 1995 | ||
| 121 | 364delAAAAG | exon 3 (PD) | N/A (1) | Tassabehji 1995 | ||
| 384del13 | exon 3 (PD) | N/A (1) | Tekin 2001 | |||
| IVS3+1G>A | S. African (1) | Butt 1994 | ||||
| IVS3+1ins7 | ?? | |||||
| IVS3+1G>T | N/A (1) | Tassabehji 1994 | ||||
| IVS3-2A>G | N/A (1) | Tassabehji 1994 | ||||
| 434del16 | exon 4 (octa) | N/A (1) | Read 1997 | |||
| 185 | 451delCA | exon 4 (octa) | N/A (1) | Tassabehji 1993 | ||
| 566del2 | ?? | |||||
| A196T | G>A | exon 4 | N/A (1) | Tassabehji 1995 | ||
| 199 | 598delCAATC | exon 5 (HD) | Dutch (1) | Hol 1995 | ||
| Q200X | 598C>T | exon 5 (HD) | N/A (1) | Baldwin 1995 | ||
| S201X | 602C>A | exon 5 (HD) | N/A (1) | Baldwin 1995 | ||
| E210X | 628G>T | exon 5 (HD) | N/A (1), Irish? (1) | Pandya 1996 | ||
| R223X | 667C>T | exon 5 (HD) | N/A (1); Irish/English/Italian/ American Indian/German (1) | Baldwin 1994; Pandya 1996 | ||
| E235X | 703G>T | exon 5 (HD) | N/A (1) | Baldwin 1995 | ||
| F238S | 713T>C | exon 5 (HD) | N/A (1) | Baldwin 1995 | ||
| E251X | G>T | exon 5 (HD) | N/A (1) | Tassabehji 1995 | ||
| Q254X | C>T | exon 5 (HD) | N/A (1) | Tassabehji 1995 | ||
| V265F | G>T | exon 6 (HD) | N/A (1) | Lalwani 1995 | ||
| W266C | G>C | exon 6 (HD) | N/A (1) | Tassabehji 1995 | ||
| R270C | 808C>T | exon 6 (HD) | N/A (1); German (1) | Tassabehji 1995; Pandya 1996 | ||
| R271C | C>T | exon 6 (HD) | N/A (2) | Tassabehji 1995 | ||
| R271G | C>G | exon 6 (HD) | N/A (1) | Lalwani 1995 | ||
| R271H | 812G>A | exon 6 (HD) | N/A (1); German/Dutch (1) | Tassabehji 1995; Pandya 1996* | ||
| *Same allele as R273K | ||||||
| R273K | 818G>A | exon 6 (HD) | German/Dutch (1) | Pandya 1996* | ||
| *Same allele as R271H | ||||||
| W274X | G>A | exon 6 (HD) | N/A (1) | Tassabehji 1995 | ||
| W274X | C>G | ?? | ||||
| Q282X | C>T | exon 6 (HD) | N/A (1) | Hol 1998 | ||
| 874insG | exon 6 (HD) | N/A (2); N/A (1) | Tassabehji 1995; Baldwin 1995 | |||
| 305 | 916delC | exon 6 (HD) | N/A (1) | Tassabehji 1995 | ||
| Q313X | 937C>T | exon 6 (HD) | N/A (1) | Baldwin 1995 | ||
| 954del1 | exon 6 (HD) | N/A (1) | Baldwin 1995 | |||
| Q391H | G>C | exon 7 | N/A (1) | Carey 1998 | ||
| 1185insTGA | exon 8 | Brazilian (1) | Baldwin 1995 | |||
| del >7000kb | entire gene | N/A (1) | Tassabehji 1995 | |||
| del | entire gene | N/A (2) | Nye 1998 | |||
| Craniofacial-Deafness- Hand Syndrome | N47L | C>G | exon 2 (PD) | N/A (1) | Asher 1996 | |
| Developmental delay with autism, dystopia canthorum | 5'UTR and >13 other genes | N/A (1) | Borg 2002 | |||