GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
MYH9 Alport Syndrome with macrothrombocytopenia (MYH9) R702C 2104C>T exon 16 European (2) Heath 2001
      Also found in EPS, FTNS  
    R702H 2105G>A exon 16 European (1) Heath 2001
      Also found in EPS      
    S1114P 3340T>C exon 25 European (1) Heath 2001
    R1165C 3493C>T exon 25 Japanese (1) Kunishima 2001b
      Also found in SBS      
    E1841K 5521G>A exon 38 Japanese (1) Kunishima 2001b
      Also found in FTNS, MHA/SBS    
             
  DFNA17 R705H 2114G>A exon 16 American (1) Lalwani 2000
             
  Epstein Syndrome R702H 2105G>A exon 16 Finnish (1), Italian (1) Seri 2002
      Also found in APSM, FTNS    
    R702C 2104C>T exon 16 European (2) Heath 2001
      Also found in APSM, FTNS    
             
  Fechtner Syndrome R702C 2104C>T exon 16 N/A (1); African American (1), European (1) Seri 2000; Heath 2001
      Also found in EPS, APSM    
    R1165C 3493C>T exon 26 Japanese (1) Kunishima 2001b
      Also found in MHA/SBS    
    D1424H 4270G>C exon 30 N/A (1); European (1) Seri 2000; Heath 2001
      also found in MHA/SBS    
    D1424N 4270G>A exon 30 European (3) Heath 2001
      also found in MHA/SBS    
    E1841K 5521G>A exon 38 European (2) Heath 2001
      also found in APSM, MHA/SBS    
    R1933X 5797C>T exon 40 Chinese (1) Heath 2001
      also found in MHA/SBS    
             
  May-Hegglin Anomaly/ Sebastian Syndrome N93K 279C>G exon 1 N/A (1) Seri 2000
    A95T 283G>A exon 1 Korean (1) Kunishima 2001b
    K371N 1119G>C exon 10 European (1) Heath 2001
    T1155I 3464C>T exon 25 European (1) Kelley 2000
    R1165C 3493C>T exon 26 N/A (1); Japanese (1) Seri 2000; Kunishima 2001b
      Also found in FTNS      
    R1165L 3494G>T exon 26 Japanese (1) Kunishima 2001b
    1205del3 3613del9 exon 26 Japanese (1) Kunishima 2001b
    D1424N 4270G>A exon 30 European/Germany (2), European/USA (1); Japanese (1) Heath 2001; Kunishima 2001a
      also found in FTNS      
    D1424H 4270G>C exon 30 Japanese (1) Kunishima 2001a
    D1424Y 4270G>T exon 30 Japanese (1) Kunishima 2001b
    E1841K 5521G>A exon 38 European (5); N/A (2); Japanese (1); Japanese (1), Chinese (1); Chinese (1) Kelley 2000; Seri 2000; Kunishima 2001a; Kunishima 2001b; Zhi 2002
      also found in APSM, FTNS    
      5774delA exon 40 Korean (1) Kunishima 2001b
      5779delC   Japanese (1) Kunishima 2001a
    R1933X 5797C>T exon 40 European/ Hispanic (4); Italian (1); European (1); Japanese (2); Korean (1), Japanese (1) Kelley 2000; Seri 2000; Heath 2001; Kunishima 2001a; Kunishima 2001b
      also found in FTNS      
      5828delG exon 40 Japanese (1) Kunishima 2001b