| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| EDNRB | Hirschsprung Disease | -26G>A | 5' UTR | N/A (1); N/A (1); Japanese (2) | Amiel 1996; Sakai 1999*; Sakai 2000 | |
| *RET mutation also found, Trisomy 21 | ||||||
| G57S | G>A | exon 1 | N/A (1); N/A (3); N/A (1); N/A (3) | Amiel 1996; Hofstra 1996*; Svensson 1998~; Svensson 1999* | ||
| *Mutation was also found in some controls, ~RET mutation also found | ||||||
| N104I | 311A>T | exon 1 | Japanese (1); Japanese (1) | Innoue 1998*; Tanaka 1998* | ||
| *Mutation was also found in some controls | ||||||
| C109R | 325T>C | exon 1 | Japanese (1); Swedish (1) | Tanaka 1998; Svensson 1999 | ||
| W226C | G>T | exon 3 | Swedish (2) | Svensson 1999 | ||
| IVS3+2T>C | Japanese (1) | Inoue 1998 | ||||
| W275X | 824G>A | exon 4 | N/A (1) | Kusafuka 1996, 1997 | ||
| W276C | G>T | Mennonite (1) | Puffenberger 1994 | |||
| 878insT | exon 4 | N/A (1) | Kusafuka 1996, 1997 | |||
| A301T | 1164G>A | exon 4 | Japanese (1) | Sakai 2000 | ||
| S305N | 914G>A | exon 4 | Italian (1); Moroccan (1) | Auricchio 1996; Brooks 1999* | ||
| *Denoted as Goldberg + Shprintzen. Mutation was also found in some controls. | ||||||
| R319W | C>T | exon 5 | N/A (1) | Amiel 1996 | ||
| M374I | G>A | exon 6 | N/A (1) | Hofstra 1996 | ||
| P383L | C>T | exon 6 | N/A (1) | Amiel 1996 | ||
| S390R | 1170C>A | exon 6 | Japanese (1) | Tanaka 1998 | ||
| N378I | delA | exon 6 | Italian (1) | Auricchio 1996 | ||
| Waardenburg IV | A183G | 548C>G | exon 2 | Tunisian (1) | Attie 1995 | |
| G186R | G>A | exon2 | Somali (1) | Boardman 2001* | ||
| *Trisomy 21 | ||||||
| R201X | C>T | exon 3 | Kurdish (1) | Verheij 2002* | ||
| *Denoted as ABCD syndrome | ||||||
| R253X | C>T | exon 3 | Afro Carribbean (1) | Syrris 1999 |