MEN2 RET Database Display Page

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Abbreviations Classification MEN2 Phenotype MTC Onset See Comments

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All rows from MEN2 database displayed (133 total)

Location Codon
Number 		Codon
Change 		Protein
Change 		Genotype
(cDNA) 		Sort Ascending
Classification
Sort Descending		 Sort Ascending
MEN2
Phenotype
Sort Descending 		MTC
Onset 		First
Reference 		Comments
Exon 5 321 GGG-AGG G321R c.961G>A unknown Unknown significance 61 Dvorakova (2005)
Exon 8 515 TGC-TCT C515S c.1544_1545
delinsCT		 mutation Unclassified 35 Fazioli (2008)
Exon 8 532 c.1585_1593
dupGAGGAGTGT		 mutation FMTC 19 Pigny (1999)
Exon 8 533 GGC-AGC G533S c.1597G>A unknown Unknown significance Sangkhathat (2006)
Exon 8 533 GGC-TGC G533C c.1597G>T mutation MEN2A and FMTC 21 da Silva (2003)
Intron 9 c.1760-12G>A unknown Unknown significance 68 Ahmed (2005)
Exon 10 600 CGG-CAG R600Q c.1799G>A unknown Unknown significance 46 Saez (2000)
Exon 10 603 AAA-CAA K603Q c.1807A>C unknown Unknown significance 35 Rey (2001)
Exon 10 606 TAT-TGT Y606C c.1817A>G unknown Unknown significance Ahmed (2005)
Exon 10 609 TGC-AGC C609S c.1825T>A HSCR variant No MEN2 disease Fitze (2002)
Exon 10 609 TGC-CGC C609R c.1825T>C mutation MEN2A and FMTC Kambouris (1996)
Exon 10 609 TGC-GGC C609G c.1825T>G mutation MEN2A 5 Frank-Raue (1996)
Exon 10 609 TGC-TAC C609Y c.1826G>A mutation MEN2A and FMTC 14 Mulligan (1994) #2
Exon 10 609 TGC-TCC C609S c.1826G>C mutation MEN2A 32 Klein (2001)
Exon 10 609 TGC-TTC C609F c.1826G>T mutation Unclassified Siegelman (1997)
Exon 10 609 TGC-TGG C609W c.1827C>G HSCR variant No MEN2 disease Mulligan (1994) #1
Exon 10 611 TGC-AGC C611S c.1831T>A mutation Unclassified Kambouris (1996)
Exon 10 611 TGC-CGC C611R c.1831T>C mutation Unclassified Kambouris (1996)
Exon 10 611 TGC-GGC C611G c.1831T>G mutation FMTC and Unclassified 28 Oriola (1998)
Exon 10 611 TGC-TAC C611Y c.1832G>A mutation MEN2A and FMTC 7 Mulligan (1994) #2
Exon 10 611 TGC-TAT C611Y c.1832_1833
delinsAT		 mutation Unclassified 55 Bahlo (2008)
Exon 10 611 TGC-TCC C611S c.1832G>C unknown Unknown significance Kruckeburg (2004)
Exon 10 611 TGC-TCT C611S c.1832_1833
delinsCT		 mutation Unclassified 47 Nishikawa (2003)
Exon 10 611 TGC-TTC C611F c.1832G>T mutation FMTC and Unclassified 41 Frank-Raue (1996)
Exon 10 611 TGC-TGG C611W c.1833C>G mutation MEN2A and FMTC 73 Donis-Keller (1993)
Exon 10 616 c.1846_1848delGAG
see comments		 polymorphism No MEN2 disease 31 Ahmed (2005)
Exon 10 618 TGC-AGC C618S c.1852T>A mutation MEN2A and FMTC 9 Donis-Keller (1993)
Exon 10 618 TGC-CGC C618R c.1852T>C mutation MEN2A and FMTC 8 Donis-Keller (1993)
Exon 10 618 TGC-GGC C618G c.1852T>G mutation MEN2A and Unclassified 9 Mulligan (1993)
Exon 10 618 TGC-TAC C618Y c.1853G>A mutation MEN2A and FMTC 26 Donis-Keller (1993)
Exon 10 618 TGC-TCC C618S c.1853G>C mutation MEN2A and FMTC 15 Xue (1994)
Exon 10 618 TGC-TTC C618F c.1853G>T mutation MEN2A and FMTC 35 Wells (1994)
Exon 10 618 TGC-TGG C618W c.1854C>G mutation Unclassified Liu (1998)
Exon 10 619 TTC-TTT F619F c.1857C>T
see comments		 unknown Unknown significance 28 Landsvater (1996)
Exon 10 620 TGC-AGC C620S c.1858T>A mutation MEN2A and Unclassified 38 Blaugrund (1994)
Exon 10 620 TGC-CGC C620R c.1858T>C mutation MEN2A and FMTC 6 Donis-Keller (1993)
Exon 10 620 TGC-GGC C620G c.1858T>G mutation MEN2A and Unclassified 44 Kitamura (1997)
Exon 10 620 TGC-TAC C620Y c.1859G>A mutation MEN2A and FMTC 18 Donis-Keller (1993)
Exon 10 620 TGC-TCC C620S c.1859G>C mutation MEN2A and FMTC 24 Schuffenecker (1994)
Exon 10 620 TGC-TTC C620F c.1859G>T mutation MEN2A and FMTC Wells (1994)
Exon 10 620 TGC-TTC C620F c.1859G>T
see comments		 mutation MEN2A and FMTC 58 Dvorakova (2006)
Exon 10 620 TGC-TGG C620W c.1860C>G mutation MEN2A and Unclassified 37 Siegelman (1997)
Exon 10 623 GAA-AAA E623K c.1867G>A
see comments		 polymorphism No MEN2 disease Siegelman (1997)
Intron 10 c.1879+4A>G unknown Unknown significance 55 Veljkovic (2004)
Exon 11 630 TGC-CGC C630R c.1888T>C mutation MEN2A and FMTC 1 Machens (2003)
Exon 11 630 TGC-TAC C630Y c.1889G>A mutation MEN2A and Unclassified 22 Kitamura (1997)
Exon 11 630 TGC-TCC C630S c.1889G>C unknown Unknown significance 39 Kitamura (1997)
Exon 11 630 TGC-TTC C630F c.1889G>T mutation FMTC and Unclassified Komminoth (1995)
Exon 11 631 c.1891_1893
del GAC		 mutation MEN2A Yao (2007)
Exon 11 631 GAC-AAC D631N c.1891G>A unknown Unknown significance Asai (1999)
Exon 11 631 GAC-TAC D631Y c.1891G>T mutation MEN2A 30 Beldjord (1995)
Exon 11 631 GAC-TAC D631Y c.1891G>T
see comments		 mutation MEN2A 40 Koch (2000)
Exon 11 631 GAC-GCC D631A c.1892A>C unknown Unknown significance Asai (1999)
Exon 11 631 GAC-GGC D631G c.1892A>G unknown Unknown significance Shirahama (1998)
Exon 11 631 GAC-GTC D631V c.1892A>T unknown Unknown significance Kruckeburg (2004)
Exon 11 631 GAC-GTC D631V c.1892A>T
see comments		 unknown Unknown significance Ahmed (2005)
Exon 11 631 GAC-GAA D631E c.1893C>A
see comments		 unknown Unknown significance 37 Kruckeburg (2004)
Exon 11 631 GAC-GAT D631D c.1893C>T
see comments		 unknown Unknown significance Kruckeburg (2004)
Exon 11 632 GAG-AAG E632K c.1894G>A unknown Unknown significance 53 Frank-Raue (2007)
Exon 11 632 c.1896_1900
delinsCGTGC		 mutation MEN2A and Unclassified Mulligan (1993)
Exon 11 634 TGC-AGC C634S c.1900T>A mutation MEN2A and Unclassified Mulligan (1994) #2
Exon 11 634 TGC-CGC C634R c.1900T>C mutation MEN2A and FMTC Donis-Keller (1993)
Exon 11 634 TGC-GGC C634G c.1900T>G mutation MEN2A and Unclassified 25 Mulligan (1993)
Exon 11 634 TGC-TAC C634Y c.1901G>A mutation MEN2A and FMTC 5 Mulligan (1993)
Exon 11 634 TGC-TCC C634S c.1901G>C mutation MEN2A and FMTC Mulligan (1993)
Exon 11 634 TGC-TTC C634F c.1901G>T mutation MEN2A and FMTC 7 Mulligan (1993)
Exon 11 634 TGC-TTG C634L c.1901_1902
delinsTG		 mutation MEN2A Amar (2005)
Exon 11 634 TGC-TGG C634W c.1902C>G mutation MEN2A and FMTC 5 Mulligan (1994) #2
Exon 11 635 CGC-GGC R635G c.1903C>G
see comments		 unknown Unknown significance 4 Lips (1994)
Exon 11 635 c.1892_1903
dupACGAGCTGTGCC		 mutation MEN2A Hoeppner (1997)
Exon 11 636 c.1906
delinsGACCTGTGCCGCC		 mutation Unclassified 9 Ahmed (2005)
Exon 11 637 c.1900_1908
dupTGCCGCACG		 mutation MEN2A 56 Hoeppner (1998)
Exon 11 640 GCC-GGC A640G c.1919C>G
see comments		 unknown Unknown significance 26 Tessitore (1999)
Exon 11 641 GCT-TCT A641S c.1921G>T
see comments		 unknown Unknown significance 13 Poturnajova (2005)
Exon 11 648 GTC-ATC V648I c.1942G>A
see comments		 unknown Unknown significance 34 Nunes (2002)
Exon 11 649 TCG-TTG S649L c.1946C>T unknown Unknown significance 44 Wiench (2001)
Exon 11 649 TCG-TTG S649L c.1946C>T
see comments		 unknown Unknown significance Paszko (2007)
Exon 11 649 TCG-TTG S649L c.1946C>T
see comments		 unknown Unknown significance 29 Colombo-Benkmann (2008)
Exon 11 649 TCG-TTG S649L c.1946C>T
see comments		 unknown Unknown Significance 47 Colombo-Benkmann (2008)
Exon 11 649 TCG-TCA S649S c.1947G>A unknown Unknown significance Salomon (1996)
Exon 11 665 CAC-CAG H665Q c.1995C>G
see comments		 unknown Unknown significance Ahmed (2005)
Exon 11 666 AAG-GAG K666E c.1996A>G mutation MEN2A and Unclassified 35 Ahmed (2005)
Exon 11 666 c.1998
delinsTTCT		 mutation MEN2A and Unclassified 12 VandenBosch (2005)
Exon 11 691 GGT-AGT G691S c.2071G>A polymorphism No MEN2 disease Ceccherini (1994)
Exon 13 768 GAG-GAC E768D c.2304G>C mutation MEN2A and FMTC 22 Eng (1995)
Exon 13 768 GAG-GAT E768D c.2304G>T mutation Unclassified 41 Wiench (2001)
Exon 13 769 CTT-CTG L769L c.2307T>G polymorphism No MEN2 disease Ceccherini (1994)
Exon 13 777 AAC-AGC N777S c.2330A>G unknown Unknown significance 60 D'Aloiso (2006)
Exon 13 778 GTC-ATC V778I c.2332G>A
homozygous		 unknown Unknown significance 72 Miyauchi (2002)
Exon 13 778 GTC-ATC V778I c.2332G>A
see comments		 unknown Unknown significance 26 Kasprzak (2001)
Exon 13 781 CAG-CGG Q781R c.2342A>G mutation Unclassified 71 Maschek (2002)
Exon 13 790 TTG-TTC L790F c.2370G>C mutation MEN2A and FMTC Berndt (1998)
Exon 13 790 TTG-TTT L790F c.2370G>T mutation MEN2A and FMTC 9 Berndt (1998)
Exon 13 791 TAT-AAT Y791N c.2371T>A HSCR variant No MEN2 disease Ruiz-Ferrer (2006)
Exon 13 791 TAT-TTT Y791F c.2372A>T mutation MEN2A and FMTC 15 Berndt (1998)
Exon 13 791 TAT-TTT Y791F c.2372A>T
see comments		 mutation MEN2A and FMTC 58 Dvorakova (2006)
Exon 13 791 TAT-TTT Y791F c.2372A>T
see comments		 mutation MEN2A and FMTC Margraf: personal
communication
Exon 13 791 TAT-TTT Y791F c.2372A>T
see comments		 mutation MEN2A and FMTC 5 Jindrichova (2004)
Exon 14 804 GTG-ATG V804M c.2410G>A mutation MEN2A and FMTC 6 Fink (1996)
Exon 14 804 GTG-CTG V804L c.2410G>C mutation Unclassified 54 Decker (1997)
Exon 14 804 GTG-TTG V804L c.2410G>T mutation MEN2A and FMTC 12 Bolino (1995)
Exon 14 804 GTG-TTG V804L c.2410G>T
see comments		 mutation MEN2A and FMTC Margraf: personal
communication
Exon 14 805 GAG-AAG E805K c.2413G>A
see comments		 unknown Unknown significance 50 Cranston (2006) #1
Exon 14 806 TAC-TGC Y806C c.2417A>G
see comments		 polymorphism No MEN2 disease 23 Miyauchi (1999)
Exon 14 818 GAG-AAG E818K c.2452G>A unknown Unknown significance Paszko (2007)
Exon 14 819 AGC-ATC S819I c.2456G>T
see comments		 unknown Unknown significance 40 Koch (2000)
Exon 14 833 CGC-TGC R833C c.2497C>T unknown Unknown significance 59 Cranston (2006) #2
Exon 14 836 AGC-AGT S836S c.2508C>T polymorphism No MEN2 disease Gimm (1999)
Exon 14 841 CCG-CTG P841L c.2522C>T unknown Unknown significance Decker (1997)
Exon 14 841 CCG-CCA P841P c.2523G>A unknown Unknown significance Kitamura (1997)
Exon 14 843 GAG-GAT E843D c.2529G>T
see comments		 unknown Unknown significance 40 Koch (2000)
Exon 14 844 CGG-TGG R844W c.2530C>T unknown Unknown significance Kim (2006)
Exon 14 844 CGG-CAG R844Q c.2531G>A unknown Unknown significance Paszko (2007)
Exon 14 844 CGG-CTG R844L c.2531G>T
see comments		 unknown Unknown significance 55 Bartsch (2000)
Exon 14 845 GCC-GCT A845A c.2535C>T unknown Unknown significance Wiench (2001)
Exon 14 848 ATG-ACG M848T c.2543T>C unknown Unknown significance 67 Elisei (2007)
Exon 14 852 ATC-ATG I852M c.2556C>G unknown Unknown significance 20 Demeester (2001)
Intron 14 c.2608-24G>A polymorphism No MEN2 disease Gath (2001)
Exon 15 883 GCT-ACT A883T c.2647G>A
homozygous		 mutation Unclassified 51 Elisei (2004)
Exon 15 883 GCT-TTT A883F c.2647_2648
delinsTT		 mutation MEN2B 10 Smith (1997)
Exon 15 886 CGG-TGG R886W c.2656C>T unknown Unknown significance 44 Prazeres (2006)
Exon 15 891 TCG-GCG S891A c.2671T>G mutation MEN2A and FMTC 13 Hofstra (1997)
Exon 15 891 TCG-TCA S891S c.2673G>A unknown Unknown significance Margraf: personal
communication
Exon 15 904 TCC-TGC S904C c.2711C>G
see comments		 unknown Unknown significance 18 Menko (2002)
Exon 15 904 TCC-TTC S904F c.2711C>T unknown Unknown significance 40 Elisei (2007)
Exon 15 904 TCC-TCG S904S c.2712C>G polymorphism No MEN2 disease Ceccherini (1994)
Exon 15 907 AAG-GAG K907E c.2719A>G unknown Unknown significance Attie (1995)
Exon 15 907 AAG-ATG K907M c.2720A>T unknown Unknown significance Kaserer (2001)
Exon 16 912 CGG-CAG R912Q c.2735G>A unknown Unknown significance Fitze (2002)
Exon 16 912 CGG-CCG R912P c.2735G>C mutation Unclassified 14 Jimenez (2004)
Exon 16 918 ATG-ACG M918T c.2753T>C mutation MEN2B Hofstra (1994)
Exon 16 918 ATG-ACG M918T c.2753T>C
see comments		 mutation MEN2B 5 Jindrichova (2004)
Exon 16 922 TCC-TAC S922Y c.2765C>A
see comments		 polymorphism No MEN2 disease Kitamura (1995)

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