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