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