MEN2 Database

  • Reference sequences were NC_000010.9 and NM_020630.4. cDNA number 1 is the "A" of the start codon.
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Click for a detailed description of:   Abbreviations,  Classification,  MEN2 Phenotype,  MTC Onset,  Comments.

166 variants found

Genomic Position Location Genotype (cDNA) Codon Change Protein Change Classification MEN2 Phenotype MTC Onset First Reference Comments
43601830 Exon 5 c.874G>A GTG-ATG p.V292M Pathogenic MEN2A 44 Castellone (2010)
43601830 Exon 5 c.874G>A see comments GTG-ATG p.V292M Pathogenic MEN2A 13 Qi (2011)
43601917 Exon 5 c.961G>A GGG-AGG p.G321R Uncertain Unknown 61 Dvorakova (2005)
43601969 Exon 5 c.1013C>T ACC-ATC p.T338I Uncertain Unknown Fitze (2002)
43607553 Exon 8 c.1529C>T GCC-GTC p.A510V Uncertain Unknown 55 Muzza (2010)
43607555 Exon 8 c.1531G>A GAG-AAG p.E511K Uncertain Unknown 65 Muzza (2010)
43607568 Exon 8 c.1544_1545
delinsCT		 TGC-TCT p.C515S Pathogenic Unclassified 35 Fazioli (2008)
43607609 Exon 8 c.1585_1593dup
GAGGAGTGT		 Pathogenic FMTC 19 Pigny (1999)
43607615 Exon 8 c.1591T>C TGT-CGT p.C531R Uncertain Unknown 53 Muzza (2010)
43607621 Exon 8 c.1597G>A GGC-AGC p.G533S Uncertain Unknown Sangkhathat (2006)
43607621 Exon 8 c.1597G>T GGC-TGC p.G533C Pathogenic MEN2A and FMTC 21 da Silva (2003)
43608301 Exon 9 c.1649G>A GGG>GAG p.G550E Uncertain Unknown 32 Lindsey (2012)
43608992 Intron 9 c.1760-12G>A Uncertain Unknown 68 Ahmed (2005)
43609043 Exon 10 c.1799G>A CGG-CAG p.R600Q Uncertain Unknown 46 Saez (2000)
43609051 Exon 10 c.1807A>C AAA-CAA p.K603Q Uncertain Unknown 35 Rey (2001)
43609061 Exon 10 c.1817A>G TAT-TGT p.Y606C Uncertain Unknown 58 Ahmed (2005)
43609069 Exon 10 c.1825T>A TGC-AGC p.C609S Uncertain Unknown Fitze (2002)
43609069 Exon 10 c.1825T>C TGC-CGC p.C609R Pathogenic MEN2A and FMTC 27 Kambouris (1996)
43609069 Exon 10 c.1825T>G TGC-GGC p.C609G Pathogenic MEN2A 4 Frank-Raue (1996)
43609070 Exon 10 c.1826G>A TGC-TAC p.C609Y Pathogenic MEN2A and FMTC 14 Mulligan (1994) #2
43609070 Exon 10 c.1826G>C TGC-TCC p.C609S Pathogenic MEN2A 15 Klein (2001)
43609070 Exon 10 c.1826G>T TGC-TTC p.C609F Pathogenic MEN2A and Unclassified 18 Siegelman (1997)
43609071 Exon 10 c.1827C>G TGC-TGG p.C609W HSCR variant No MEN2 disease Mulligan (1994) #1
43609075 Exon 10 c.1831T>A TGC-AGC p.C611S Pathogenic Unclassified Kambouris (1996)
43609075 Exon 10 c.1831T>C TGC-CGC p.C611R Pathogenic Unclassified Kambouris (1996)
43609075 Exon 10 c.1831T>G TGC-GGC p.C611G Pathogenic FMTC and Unclassified 28 Oriola (1998)
43609076 Exon 10 c.1832G>A TGC-TAC p.C611Y Pathogenic MEN2A and FMTC 6 Mulligan (1994) #2
43609076 Exon 10 c.1832_1833
delinsAT		 TGC-TAT p.C611Y Pathogenic Unclassified 55 Bahlo (2008)
43609076 Exon 10 c.1832G>C TGC-TCC p.C611S Uncertain Unknown Kruckeburg (2004)
43609076 Exon 10 c.1832_1833
delinsCT		 TGC-TCT p.C611S Pathogenic Unclassified 47 Nishikawa (2003)
43609076 Exon 10 c.1832G>T TGC-TTC p.C611F Pathogenic MEN2A and FMTC 14 Frank-Raue (1996)
43609076 Exon 10 c.1832_1833
delinsTT		 TGC-TTT p.C611F Pathogenic Unclassified 36 Sanchez (1999)
43609077 Exon 10 c.1833C>G TGC-TGG p.C611W Pathogenic MEN2A and FMTC 14 Donis-Keller (1993)
43609090 Exon 10 c.1846_1848delGAG
see comments		 Benign No MEN2 disease 31 Ahmed (2005)
43609096 Exon 10 c.1852T>A TGC-AGC p.C618S Pathogenic MEN2A and FMTC 9 Donis-Keller (1993)
43609096 Exon 10 c.1852T>C TGC-CGC p.C618R Pathogenic MEN2A and FMTC 8 Donis-Keller (1993)
43609096 Exon 10 c.1852T>G TGC-GGC p.C618G Pathogenic MEN2A and Unclassified 9 Mulligan (1993)
43609097 Exon 10 c.1853G>A TGC-TAC p.C618Y Pathogenic MEN2A and FMTC 25 Donis-Keller (1993)
43609097 Exon 10 c.1853G>C TGC-TCC p.C618S Pathogenic MEN2A and FMTC 9 Xue (1994)
43609097 Exon 10 c.1853G>T TGC-TTC p.C618F Pathogenic MEN2A and FMTC 5 Wells (1994)
43609098 Exon 10 c.1854C>G TGC-TGG p.C618W Pathogenic Unclassified Liu (1998)
43609101 Exon 10 c.1857C>T
see comments		 TTC-TTT p.F619F Uncertain Unknown 28 Landsvater (1996)
43609102 Exon 10 c.1858T>A TGC-AGC p.C620S Pathogenic MEN2A and Unclassified 38 Blaugrund (1994)
43609102 Exon 10 c.1858T>C TGC-CGC p.C620R Pathogenic MEN2A and FMTC 6 Donis-Keller (1993)
43609102 Exon 10 c.1858T>G TGC-GGC p.C620G Pathogenic MEN2A and Unclassified 22 Kitamura (1997)
43609103 Exon 10 c.1859_1860delinsTG TGC-TTG p.C620L Uncertain Unknown 19 Margraf (2012)
43609103 Exon 10 c.1859G>A TGC-TAC p.C620Y Pathogenic MEN2A and FMTC 18 Donis-Keller (1993)
43609103 Exon 10 c.1859G>C TGC-TCC p.C620S Pathogenic MEN2A and FMTC 14 Schuffenecker (1994)
43609103 Exon 10 c.1859G>T TGC-TTC p.C620F Pathogenic MEN2A and FMTC 27 Wells (1994)
43609103 Exon 10 c.1859G>T
see comments		 TGC-TTC p.C620F Pathogenic MEN2A and FMTC 58 Dvorakova (2006)
43609104 Exon 10 c.1860C>G TGC-TGG p.C620W Pathogenic MEN2A and Unclassified 37 Siegelman (1997)
43609111 Exon 10 c.1867G>A
see comments		 GAA-AAA p.E623K Benign No MEN2 disease Siegelman (1997)
43609127 Intron 10 c.1879+4A>G Uncertain Unknown 55 Veljkovic (2004)
43609936 Exon 11 c.1888T>C TGC-CGC p.C630R Pathogenic MEN2A and FMTC 1 Machens (2003)
43609937 Exon 11 c.1889G>A TGC-TAC p.C630Y Pathogenic MEN2A and Unclassified 22 Kitamura (1997)
43609937 Exon 11 c.1889G>C TGC-TCC p.C630S Uncertain Unknown 39 Kitamura (1997)
43609937 Exon 11 c.1889G>T TGC-TTC p.C630F Pathogenic FMTC and Unclassified Komminoth (1995)
43609939 Exon 11 c.1891_1893del
GAC		 Pathogenic MEN2A 31 Yao (2007)
43609939 Exon 11 c.1891G>A GAC-AAC p.D631N Uncertain Unknown Asai (1999)
43609939 Exon 11 c.1891G>T GAC-TAC p.D631Y Pathogenic MEN2A 30 Beldjord (1995)
43609939 Exon 11 c.1891G>T
see comments		 GAC-TAC p.D631Y Pathogenic MEN2A 40 Koch (2000)
43609940 Exon 11 c.1892A>C GAC-GCC p.D631A Uncertain Unknown Asai (1999)
43609940 Exon 11 c.1892A>G GAC-GGC p.D631G Uncertain Unknown Shirahama (1998)
43609940 Exon 11 c.1892A>T GAC-GTC p.D631V Uncertain Unknown Kruckeburg (2004)
43609940 Exon 11 c.1892A>T
see comments		 GAC-GTC p.D631V Uncertain Unknown Ahmed (2005)
43609940 Exon 11 c.1892_1903dup
ACGAGCTGTGCC		 Pathogenic MEN2A Hoeppner (1997)
43609941 Exon 11 c.1893C>A
see comments		 GAC-GAA p.D631E Uncertain Unknown 37 Kruckeburg (2004)
43609941 Exon 11 c.1893C>T GAC-GAT p.D631D Uncertain Unknown Greenman (2007)
43609941 Exon 11 c.1893C>T
see comments		 GAC-GAT p.D631D Uncertain Unknown Kruckeburg (2004)
43609942 Exon 11 c.1894G>A GAG-AAG p.E632K Uncertain Unknown 53 Frank-Raue (2007)
43609944 Exon 11 c.1896_1900
delinsCGTGC		 Pathogenic MEN2A and Unclassified Mulligan (1993)
43609948 Exon 11 c.1900T>A TGC-AGC p.C634S Pathogenic MEN2A and Unclassified 8 Mulligan (1994) #2
43609948 Exon 11 c.1900T>C TGC-CGC p.C634R Pathogenic MEN2A and FMTC 1.4 Donis-Keller (1993)
43609948 Exon 11 c.1900T>G TGC-GGC p.C634G Pathogenic MEN2A and Unclassified 3 Mulligan (1993)
43609948 Exon 11 c.1900_1908dup
TGCCGCACG		 Pathogenic MEN2A 56 Hoeppner (1998)
43609949 Exon 11 c.1901G>A TGC-TAC p.C634Y Pathogenic MEN2A and FMTC 0.8 Mulligan (1993)
43609949 Exon 11 c.1901G>A
see comments		 TGC-TAC p.C634Y Pathogenic MEN2A and FMTC 15 Toledo (2010)
43609949 Exon 11 c.1901G>A
see comments		 TGC-TCC p.C634Y Pathogenic MEN2A and FMTC 13 Qi (2011)
43609949 Exon 11 c.1901G>C TGC-TCC p.C634S Pathogenic MEN2A and FMTC 9 Mulligan (1993)
43609949 Exon 11 c.1901G>T TGC-TTC p.C634F Pathogenic MEN2A and FMTC 7 Mulligan (1993)
43609949 Exon 11 c.1901_1902
delinsTG		 TGC-TTG p.C634L Pathogenic MEN2A Amar (2005)
43609950 Exon 11 c.1902C>G TGC-TGG p.C634W Pathogenic MEN2A and FMTC 3 Mulligan (1994) #2
43609951 Exon 11 c.1903C>G
see comments		 CGC-GGC p.R635G Uncertain Unknown 4 Lips (1994)
43609951 Exon 11 c.1903C>T CGC-TGC p.R635C Uncertain Unknown Huguet (2013)
43609954 Exon 11 c.1906delins
GACCTGTGCCGCC		 Pathogenic Unclassified 9 Ahmed (2005)
43609967 Exon 11 c.1919C>G
see comments		 GCC-GGC p.A640G Uncertain Unknown 26 Conzo (2012)
43609969 Exon 11 c.1921G>T
see comments		 GCT-TCT p.A641S Uncertain Unknown 13 Poturnajova (2005)
43609990 Exon 11 c.1942G>A GTC-ATC p.V648I Uncertain Unknown Cosci (2011)
43609990 Exon 11 c.1942G>A
see comments		 GTC-ATC p.V648I Uncertain Unknown 34 Nunes (2002)
43609994 Exon 11 c.1946C>T TCG-TTG p.S649L Uncertain Unknown 44 Wiench (2001)
43609994 Exon 11 c.1946C>T
see comments		 TCG-TTG p.S649L Uncertain Unknown Paszko (2007)
43609994 Exon 11 c.1946C>T
see comments		 TCG-TTG p.S649L Uncertain Unknown 29 Colombo-Benkmann (2008)
43609994 Exon 11 c.1946C>T
see comments		 TCG-TTG p.S649L Uncertain Unknown 47 Colombo-Benkmann (2008)
43609994 Exon 11 c.1946C>T
see comments		 TCG-TTG p.S649L Uncertain Unknown Vaclavikova (2009)
43609995 Exon 11 c.1947G>A TCG-TCA p.S649S Uncertain Unknown Salomon (1996)
43610043 Exon 11 c.1995C>G
see comments		 CAC-CAG p.H665Q Uncertain Unknown Ahmed (2005)
43610044 Exon 11 c.1996A>G AAG-GAG p.K666E Pathogenic MEN2A and Unclassified 35 Ahmed (2005)
43610045 Exon 11 c.1997A>G AAG-AGG p.K666R Uncertain Unknown 38 Yamazaki (2014)
43610045 Exon 11 c.1997A>T
see comments		 AAG-ATG p.K666M Uncertain Unknown 40 Mastroianno (2011)
43610046 Exon 11 c.1998G>T AAG-AAT p.K666N Uncertain Unknown 65 Muzza (2010)
43610046 Exon 11 c.1998delins
TTCT		 Pathogenic MEN2A and Unclassified 12 VandenBosch (2005)
43610105 Exon 11 c.2057G>A AGC-AAC p.S686N Uncertain Unknown Hedayati (2011)
43610119 Exon 11 c.2071G>A GGT-AGT p.G691S Benign No MEN2 disease Ceccherini (1994)
43610146 Exon 11 c.2098A>T
see comments		 ATG-TTG p.M700L Uncertain Unknown 26 Conzo (2012)
43612143 Exon 12 c.2248G>C GCA-CCA p.A750P Pathogenic MEN2A Moore (2010)
43613840 Exon 13 c.2304G>C GAG-GAC p.E768D Pathogenic MEN2A and FMTC 22 Eng (1995)
43613840 Exon 13 c.2304G>T GAG-GAT p.E768D Pathogenic Unclassified 41 Wiench (2001)
43613840 Exon 13 c.2304G>T
see comments		 GAG-GAT p.E768D Pathogenic Unclassified 25 Rajiv Sarin, unpublished data
43613843 Exon 13 c.2307T>G CTT-CTG p.L769L Benign No MEN2 disease Ceccherini (1994)
43613845 Exon 13 c.2309G>A CGA-CAA p.R770Q Uncertain Unknown 42 Frank-Raue (2009)
43613847 Exon 13 c.2311G>A GAC-AAC p.D771N Uncertain Unknown Moore (2010)
43613866 Exon 13 c.2330A>G AAC-AGC p.N777S Uncertain Unknown 60 D'Aloiso (2006)
43613868 Exon 13 c.2332G>A
homozygous		 GTC-ATC p.V778I Uncertain Unknown 72 Miyauchi (2002)
43613868 Exon 13 c.2332G>A
see comments		 GTC-ATC p.V778I Uncertain Unknown 26 Kasprzak (2001)
43613878 Exon 13 c.2342A>G CAG-CGG p.Q781R Pathogenic Unclassified 71 Maschek (2002)
43613878 Exon 13 c.2342A>G
see comments		 CAG-CGG p.Q781R Pathogenic Unclassified 32 Nakao (2013)
43613906 Exon 13 c.2370G>C TTG-TTC p.L790F Pathogenic MEN2A and FMTC Berndt (1998)
43613906 Exon 13 c.2370G>T TTG-TTT p.L790F Pathogenic MEN2A and FMTC 16 Berndt (1998)
43613907 Exon 13 c.2371T>A TAT-AAT p.Y791N Uncertain Unknown 25 Ruiz-Ferrer (2006)
43613908 Exon 13 c.2372A>T TAT-TTT p.Y791F Uncertain
see comments		 Unknown 21 Berndt (1998)
43613908 Exon 13 c.2372A>T
see comments		 TAT-TTT p.Y791F Uncertain
see comments		 Unknown 58 Dvorakova (2006)
43613908 Exon 13 c.2372A>T
see comments		 TAT-TTT p.Y791F Uncertain
see comments		 Unknown Margraf: personal
communication
43613908 Exon 13 c.2372A>T
see comments		 TAT-TTT p.Y791F Uncertain
see comments		 Unknown 5 Jindrichova (2004)
43613908 Exon 13 c.2372A>T
see comments		 TAT-TTT p.Y791F Uncertain
see comments		 Unknown 15 Toledo (2010)
43613908 Exon 13 c.2372A>T
see comments		 TAT-TTT p.Y791F Uncertain
see comments		 Unknown Vaclavikova (2009)
43614996 Exon 14 c.2410G>A GTG-ATG p.V804M Pathogenic MEN2A and FMTC 6 Fink (1996)
43614996 Exon 14 c.2410G>C GTG-CTG p.V804L Pathogenic Unclassified 54 Decker (1997)
43614996 Exon 14 c.2410G>T GTG-TTG p.V804L Pathogenic MEN2A and FMTC 12 Bolino (1995)
43614996 Exon 14 c.2410G>T
see comments		 GTG-TTG p.V804L Pathogenic MEN2A and FMTC Margraf: personal
communication
43614999 Exon 14 c.2413G>A
see comments		 GAG-AAG p.E805K Uncertain Unknown 50 Cranston (2006) #1
43615003 Exon 14 c.2417A>G
see comments		 TAC-TGC p.Y806C Benign No MEN2 disease 8 Miyauchi (1999)
43615038 Exon 14 c.2452G>A GAG-AAG p.E818K Uncertain Unknown Paszko (2007)
43615042 Exon 14 c.2456G>T
see comments		 AGC-ATC p.S819I Uncertain Unknown 40 Koch (2000)
43615083 Exon 14 c.2497C>T CGC-TGC p.R833C Uncertain Unknown 59 Cranston (2006) #2
43615094 Exon 14 c.2508C>T AGC-AGT p.S836S Benign No MEN2 disease Gimm (1999)
43615108 Exon 14 c.2522C>T CCG-CTG p.P841L Uncertain Unknown Decker (1997)
43615109 Exon 14 c.2523G>A CCG-CCA p.P841P Uncertain Unknown Kitamura (1997)
43615115 Exon 14 c.2529G>T
see comments		 GAG-GAT p.E843D Uncertain Unknown 40 Koch (2000)
43615116 Exon 14 c.2530C>T CGG-TGG p.R844W Uncertain Unknown Kim (2006)
43615117 Exon 14 c.2531G>A CGG-CAG p.R844Q Uncertain Unknown Paszko (2007)
43615117 Exon 14 c.2531G>T CGG-CTG p.R844L Uncertain unknown Greenman (2007)
43615117 Exon 14 c.2531G>T
see comments		 CGG-CTG p.R844L Uncertain Unknown 55 Bartsch (2000)
43615121 Exon 14 c.2535C>T GCC-GCT p.A845A Uncertain Unknown Wiench (2001)
43615129 Exon 14 c.2543T>C ATG-ACG p.M848T Uncertain Unknown 67 Elisei (2007)
43615142 Exon 14 c.2556C>G ATC-ATG p.I852M Pathogenic Unclassifed 20 Demeester (2001)
43615505 Intron 14 c.2608-24G>A Benign No MEN2 disease Gath (2001)
43615562 Exon 15 c.2641C>G CTG-GTG p.L881V Uncertain Unknown 45 Frank-Raue (2009)
43615568 Exon 15 c.2647G>A
homozygous		 GCT-ACT p.A883T Pathogenic Unclassified 51 Elisei (2004)
43615568 Exon 15 c.2647_2648
delinsTT		 GCT-TTT p.A883F Pathogenic MEN2B 10 Smith (1997)
43615577 Exon 15 c.2656C>T CGG-TGG p.R886W Uncertain Unknown 44 Prazeres (2006)
43615592 Exon 15 c.2671T>G TCG-GCG p.S891A Pathogenic MEN2A and FMTC 13 Hofstra (1997)
43615594 Exon 15 c.2673G>A TCG-TCA p.S891S Uncertain Unknown Margraf: personal
communication
43615632 Exon 15 c.2711C>G
see comments		 TCC-TGC p.S904C Uncertain Unknown 18 Menko (2002)
43615632 Exon 15 c.2711C>T TCC-TTC p.S904F Pathogenic Unclassified 28 Elisei (2007)
43615633 Exon 15 c.2712C>G TCC-TCG p.S904S Benign No MEN2 disease Ceccherini (1994)
43615640 Exon 15 c.2719A>G AAG-GAG p.K907E Uncertain Unknown Attie (1995)
43615641 Exon 15 c.2720A>T AAG-ATG p.K907M Uncertain Unknown Kaserer (2001)
43617398 Exon 16 c.2735G>A CGG-CAG p.R912Q Uncertain Unknown Fitze (2002)
43617398 Exon 16 c.2735G>C CGG-CCG p.R912P Pathogenic Unclassified 14 Jimenez (2004)
43617416 Exon 16 c.2753T>C ATG-ACG p.M918T Pathogenic MEN2B 0.17 Hofstra (1994)
43617416 Exon 16 c.2753T>C
see comments		 ATG-ACG p.M918T Pathogenic MEN2B 5 Jindrichova (2004)
43617416 Exon 16 c.2752A>G ATG-GTG p.M918V Uncertain Unknown Cosci (2011)
43617428 Exon 16 c.2765C>A
see comments		 TCC-TAC p.S922Y Benign No MEN2 disease Kitamura (1995)
43620416 Exon 18 c.3025A>G ATG-GTG p.M1009V Uncertain Unknown Moore (2010)
43622032 Exon 19 c.3049G>A GAC-AAC p.D1017N Uncertain Unknown Moore (2010)
43622105 Exon 19 c.3122T>G GTG-GGG p.V1041G Pathogenic MEN2A Moore (2010)