| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| EDN3 | Waardenburg IV | 87 | 262delGCinsT | exon 2 | N/A (1) | Edery 1996 |
| C159F | G>T | exon 3 | Pakistani (1) | Hofstra 1996 | ||
| C169X | C>A | exon 3 | French (1) | Pingault 2001 | ||
| Central Hypoventilation Syndrome | 188 | 565insA | exon 4 | N/A (1) | Bolk 1996 | |
| Hirschsprung Disease | A17T | G>A | exon 1 | N/A (1) | Bidaud 1997 | |
| E55X | G>T | exon 2 | N/A (1) | Bidaud 1997 | ||
| 87 | 262insG | exon 2 | Swedish (1) | Svensson 1999 | ||
| A224T | G>A | exon 5 | N/A (1) | Bidaud 1997 |