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Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The table below lists some of the mutations found in the human gene FGFR2. The table gives information on the condition, nucleotide change, amino acid change, type of mutation, and published reference. For more details on each mutation click on "view".

FGFR2 Mutations and Variations

Explanation of Nomenclature | Reference Sequence

Condition Nucleotide
Change		 Amino Acid
Change		 Type Reference  
Apert Syndrome 1041_1042insAlu   Insertion  Oldridge, 1999 view
Apert Syndrome 1041_1042insAlu   Insertion  Oldridge, 1999 view
Apert Syndrome 755_756CG>TT S252F  Missense  Oldridge, 1997 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 755C>G S252W  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 758C>G P253R  Missense  Wilkie, 1995 view
Apert Syndrome 940-2_-3insAlu   Insertion  Oldridge, 1999 view
Beare-Stevenson Cutis Gyrata Syndrome 1115C>G S372C  Missence  Przylepa, 1996 view
Beare-Stevenson Cutis Gyrata Syndrome 1124A>G Y375C  Missense  Przylepa, 1996 view
Beare-Stevenson Cutis Gyrata Syndrome 1124A>G Y375C  Missense  Przylepa, 1996 view
Crouzon Syndrome 1012G>C G338R  Missense  Gorry, 1995 view
Crouzon Syndrome 1018T>C Y340H  Missense  Reardon, 1994 view
Crouzon Syndrome 1020T>C Y340H  Missense  Jabs, 1994 view
Crouzon Syndrome 1020T>C Y340H  Missense  Jabs, 1994 view
Crouzon Syndrome 1020T>C Y340H  Missense  Jabs, 1994 view
Crouzon Syndrome 1020T>C Y340H  Missense  Jabs, 1994 view
Crouzon Syndrome 1020T>C Y340H  Missense  Jabs, 1994 view
Crouzon Syndrome 1020T>C Y340H  Missense  Jabs, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Crouzon Syndrome 1025G>C C342S  Missense  Gorry, 1995 view
Crouzon Syndrome 1025G>C C342S  Missense  Gorry, 1995 view
Crouzon Syndrome 1025G>T C342F  Missense  Oldridge, 1995 view
Crouzon Syndrome 1025G>T C342F  Missense  Oldridge, 1995 view
Crouzon Syndrome 1026C>G C342W  Missense  Park, 1995 view
Crouzon Syndrome 1026C>G C342W  Missense  Park, 1995 view
Crouzon Syndrome 1026C>G C342W  Missense  Park, 1995 view
Crouzon Syndrome 1026C>G C342W  Missense  Park, 1995 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1032G>A A344A  Missense  Reardon, 1994 view
Crouzon Syndrome 1040C>G S347C  Missense  Jabs, 1994 view
Crouzon Syndrome 1040C>G S347C  Missense  Jabs, 1994 view
Crouzon Syndrome 1040C>G S347C  Missense  Jabs, 1994 view
Crouzon Syndrome 1040C>G S347C  Missense  Jabs, 1994 view
Crouzon Syndrome 1052C>G S351C  Missense  Oldridge, 1999 view
Crouzon Syndrome 1052C>G S351C  Missense  Oldridge, 1999 view
Crouzon Syndrome 1061C>G S354C  Missense  Reardon, 1994 view
Crouzon Syndrome 1061C>G S354C  Missense  Reardon, 1994 view
Crouzon Syndrome 1061C>G S354C  Missense  Reardon, 1994 view
Crouzon Syndrome 1645A>C N549H  Missense  Kan Sh, 2002 view
Crouzon Syndrome 1645A>C N549H  Missense  Kan Sh, 2002 view
Crouzon Syndrome 2032A>G R678G  Missense  Kan Sh, 2002 view
Crouzon Syndrome 314A>G Y105C  Missense  Pulleyn, 1996 view
Crouzon Syndrome 755C>T S252L  Missense  Oldridge, 1997 view
Crouzon Syndrome 799T>C S267P  Missense  Oldridge, 1995 view
Crouzon Syndrome 803_804insTGG T268TG  Insertion  Meyers, 1996 view
Crouzon Syndrome 803_804insTGG T268TG  Insertion  Meyers, 1996 view
Crouzon Syndrome 826G>T F276V  Missense  Steinberger, 1998 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Crouzon Syndrome 842A>G Y281C  Missense  Kan Sh, 2002 view
Crouzon Syndrome 866A>C Q289P  Missense  Oldridge, 1995 view
Crouzon Syndrome 866A>C Q289P  Missense  Schaefer, 1998 view
Crouzon Syndrome 868T>G W290G  Missence  Park, 1995 view
Crouzon Syndrome 868T>G W290G  Missence  Park, 1995 view
Crouzon Syndrome 983A>G Y328C  Missence  Jabs, 1994 view
Crouzon Syndrome 983A>G Y328C  Missence  Jabs, 1994 view
Crouzon Syndrome 983A>G Y328C  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 1031C>G A344G  Missence  Jabs, 1994 view
Jackson-Weiss Syndrome 866A>C Q289P  Missense  Oldridge, 1995 view
Jackson-Weiss Syndrome 866A>C Q289P  Missense  Schaefer, 1998 view
Non-Sydromic Craniosynostosis 1032G>A A344A  Missense  Reardon, 1994 view
Non-Sydromic Craniosynostosis 1032G>A A344A  Missense  Reardon, 1994 view
Non-Sydromic Craniosynostosis 1977G>T K659N  Missense  Kan Sh, 2002 view
Non-Sydromic Craniosynostosis 943G>T A315S  Missense  Johnson, 2000 view
Pfeiffer Syndrome 1019A>G Y340C  Missense  Cornejo-Roldan, 1999 view
Pfeiffer Syndrome 1021A>C T341P  Missense  Rutland, 1995 view
Pfeiffer Syndrome 1021A>C T341P  Missense  Rutland, 1995 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1024T>C C342R  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1025G>A C342Y  Missense  Reardon, 1994 view
Pfeiffer Syndrome 1025G>C C342S  Missense  Gorry, 1995 view
Pfeiffer Syndrome 1025G>C C342S  Missense  Gorry, 1995 view
Pfeiffer Syndrome 1025G>C C342S  Missense  Gorry, 1995 view
Pfeiffer Syndrome 1025T>A C342S  Missence  Park, 1995 view
Pfeiffer Syndrome 1030G>C A344P  Missence  Meyers, 1996 view
Pfeiffer Syndrome 1052C>G S351C  Missense  Oldridge, 1999 view
Pfeiffer Syndrome 1075G>T V359F  Missence  Meyers, 1996 view
Pfeiffer Syndrome 1075G>T V359F  Missence  Meyers, 1996 view
Pfeiffer Syndrome 1075G>T V359F  Missence  Meyers, 1996 view
Pfeiffer Syndrome 1084insTCAACA G345-P361  Insertion  Meyers, 1996 view
Pfeiffer Syndrome 1084insTCAACA G345-P361  Insertion  Meyers, 1996 view
Pfeiffer Syndrome 1084insTCAACA G345-P361  Insertion  Meyers, 1996 view
Pfeiffer Syndrome 1124A>G Y375C  Missense  Przylepa, 1996 view
Pfeiffer Syndrome 1694A>G E565G  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1694A>G E565G  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1694A>G E565G  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1694A>G E565G  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1694A>G E565G  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1922A>G K641R  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1922A>G K641R  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1922A>G K641R  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 1988G>A G663E  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 514_515GC>TT A172F  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 514_515GC>TT A172F  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 514_515GC>TT A172F  Missense  Kan Sh, 2002 view
Pfeiffer Syndrome 755_757CGC>TCT S252L;P253S  Missense  Oldridge, 1997 view
Pfeiffer Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Pfeiffer Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Pfeiffer Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Pfeiffer Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Pfeiffer Syndrome 833G>T C278F  Missense  Oldridge, 1995 view
Pfeiffer Syndrome 866A>C Q289P  Missense  Oldridge, 1995 view
Pfeiffer Syndrome 866A>C Q289P  Missense  Schaefer, 1998 view
Pfeiffer Syndrome 870G>C W290C  Missence  Przylepa, 1997 view
Pfeiffer Syndrome 870G>T W290C  Missense  Schaefer, 1998 view
Pfeiffer Syndrome 870G>T W290C  Missense  Schaefer, 1998 view
Pfeiffer Syndrome 870G>T W290C  Missense  Schaefer, 1998 view
Pfeiffer Syndrome 870G>T W290C  Missense  Schaefer, 1998 view
Pfeiffer Syndrome 940-1G>A     Cornejo-Roldan, 1999 view
Pfeiffer Syndrome 940-2A>G     Lajeunie, 1995 view
Pfeiffer Syndrome 940-2A>G     Lajeunie, 1995 view
Pfeiffer Syndrome 940-2A>T     Anderson, 1998 view
Pfeiffer Syndrome 940G>T (A314S)  Missense  Schell, 1995 view
Saethre-Chotzen syndrome 803_810delAGTGGT VVdel269-270  Deletion  Paznekas, 1998 view
Unaffected 755C>T S252L  Missense  Oldridge, 1997 view
Unaffected 755C>T S252L  Missense  Oldridge, 1997 view
Unaffected 755C>T S252L  Missense  Oldridge, 1997 view
Unaffected 943G>T A315S  Missense  Johnson, 2000 view
Unaffected 943G>T A315S  Missense  Johnson, 2000 view
Unaffected 943G>T A315S  Missense  Johnson, 2000 view
Unaffected 943G>T A315S  Missense  Johnson, 2000 view
Unaffected 943G>T A315S  Missense  Johnson, 2000 view
Unaffected 943G>T A315S  Missense  Johnson, 2000 view

Last Updated: 11/24/03

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