MEN2 Database

A significant database revision occurred in April 2022 (manuscript submitted).

Updates were made to the RET variant Classification methods and the MEN2 Phenotype descriptions.

Reference sequences were GRCh37 and NM_020975.6. cDNA number 1 is the ‘A’ of the start codon. Click any Column Header to sort the display. ‘Live Search’ any term in the search box, such as ‘exon 10’, ‘benign’, etc...

Click on the ‘Comments’ column icon for additional information.

Click for a detailed description of: AbbreviationsClassificationMEN2 PhenotypeMTC OnsetSee Comments.


171 variants found

Genomic Position Location Genotype Protein Change Classification MEN2 Phenotype MTC Onset References Comments
Exon 2 c.166C>A p.L56M likely benign No MEN2 Disease Click for references
Exon 5 c.874G>A
see comments
p.V292M Uncertain Unknown 44 Click for references
Exon 5 c.884C>T p.T295M Uncertain Unknown 49 Click for references
Exon 5 c.961G>A p.G321R Uncertain Unknown 61 Click for references
Exon 5 c.1013C>T p.T338I Uncertain Unknown Click for references
Exon 7 c.1513_1518del
GAGGGG
p.E505_G506del Pathogenic Classical MEN2A 37 Click for references
Exon 8 c.1529C>T p.A510V Uncertain Unknown 55 Click for references
Exon 8 c.1531G>A p.E511K Uncertain Unknown 38 Click for references
Exon 8 c.1539G>A p.A513= Likely Benign No MEN2 Disease Click for references
Exon 8 c.1544_1545
delGCinsCT
p.C515S Likely Pathogenic Unclassified MEN2 35 Click for references
Exon 8 c.1544G>T p.C515F Uncertain Unknown 49 Click for references
Exon 8 c.1545C>G
see comments
p.C515W Likely Pathogenic Unknown 60 Click for references
Exon 8 c.1573C>T
see comments
p.R525W Uncertain Unknown Click for references
Exon 8 c.1586_1594dup
AGGAGTGTG
p.Glu529_Cys531dupEEC likely pathogenic FMTC 19 Click for references
Exon 8 c.1591T>C p.C531R Uncertain Unknown 53 Click for references
Exon 8 c.1597G>A p.G533S Uncertain Unknown Click for references
Exon 8 c.1597G>T
see comments
p.G533C Pathogenic Classical MEN2A;
or FMTC
21 Click for references
Exon 8 c.1621T>C p.C541R Uncertain Unknown Click for references
Exon 8 c.1642G>A p.G548S Uncertain Unknown 53 Click for references
Exon 9 c.1649G>A p.G550E Uncertain Unknown 32 Click for references
Intron 9 c.1760-12G>A Benign No MEN2 Disease Click for references
Exon 10 c.1799G>A p.R600Q Uncertain Unknown 46 Click for references
Exon 10 c.1807A>C
see comments
p.K603Q Likely Pathogenic Unknown 35 Click for references
Exon 10 c.1817A>G p.Y606C Uncertain
see comments
Unknown Click for references
Exon 10 c.1825T>A p.C609S Pathogenic Unknown Click for references
Exon 10 c.1825T>C p.C609R Pathogenic Classical MEN2A;
or MEN2A with HSCR
27 Click for references
Exon 10 c.1825T>G p.C609G Pathogenic Classical MEN2A 4 Click for references
Exon 10 c.1826G>A p.C609Y Pathogenic Classical MEN2A;
MEN2A with HSCR;
or FMTC
14 Click for references
Exon 10 c.1826G>C p.C609S Pathogenic Classical MEN2A 15 Click for references
Exon 10 c.1826G>T p.C609F Pathogenic Classical MEN2A 18 Click for references
Exon 10 c.1827C>G p.C609W Pathogenic Unknown Click for references
Exon 10 c.1827C>T p.C609= Likely Benign No MEN2 Disease Click for references
Exon 10 c.1831T>A p.C611S Likely Pathogenic Unknown Click for references
Exon 10 c.1831T>C p.C611R Likely Pathogenic Unknown 30 Click for references
Exon 10 c.1831T>G p.C611G Pathogenic Unclassified MEN2 28 Click for references
Exon 10 c.1832G>A p.C611Y Pathogenic Classical MEN2A;
or MEN2A with CLA
6 Click for references
Exon 10 c.1832_1833
delGCinsAT
p.C611Y Pathogenic Unclassified MEN2 55 Click for references
Exon 10 c.1832G>C p.C611S Likely Pathogenic Unknown Click for references
Exon 10 c.1832_1833
delGCinsCT
p.C611S Likely Pathogenic Unclassified MEN2 47 Click for references
Exon 10 c.1832G>T p.C611F Pathogenic Classical MEN2A;
or FMTC
14 Click for references
Exon 10 c.1832_1833
delGCinsTT
p.C611F Pathogenic Unclassified MEN2 36 Click for references
Exon 10 c.1833C>G p.C611W Pathogenic Classical MEN2A 14 Click for references
Exon 10 c.1846G>C p.E616Q Uncertain Unknown Click for references
Exon 10 c.1846_1848delGAG
see comments
p.E616del Uncertain Unknown Click for references
Exon 10 c.1852T>A p.C618S Pathogenic Classical MEN2A;
MEN2A with HSCR;
or FMTC
9 Click for references
Exon 10 c.1852T>C p.C618R Pathogenic Classical MEN2A;
MEN2A with HSCR;
or FMTC
8 Click for references
Exon 10 c.1852T>G p.C618G Pathogenic Classical MEN2A;
or FMTC
9 Click for references
Exon 10 c.1853G>A p.C618Y Pathogenic Classical MEN2A;
or FMTC
25 Click for references
Exon 10 c.1853G>C p.C618S Pathogenic Classical MEN2A;
MEN2A with HSCR
8 Click for references
Exon 10 c.1853G>T p.C618F Pathogenic Classical MEN2A;
or FMTC
5 Click for references
Exon 10 c.1854C>G p.C618W Likely Pathogenic Unknown Click for references
Exon 10 c.1857_1858delCTinsTC
see comments
p.C620R Pathogenic MEN2A with HSCR 28 Click for references
Exon 10 c.1858T>A p.C620S Pathogenic Unknown 38 Click for references
Exon 10 c.1858T>C p.C620R Pathogenic Classical MEN2A;
MEN2A with HSCR;
or FMTC
6 Click for references
Exon 10 c.1858T>G p.C620G Pathogenic Classical MEN2A;
or MEN2A with HSCR
22 Click for references
Exon 10 c.1859G>A p.C620Y Pathogenic Classical MEN2A;
MEN2A with HSCR;
or FMTC
18 Click for references
Exon 10 c.1859G>C p.C620S Pathogenic Classical MEN2A;
MEN2A with HSCR;
or FMTC
14 Click for references
Exon 10 c.1859G>T p.C620F Pathogenic Classical MEN2A;
or Unclassified MEN2
27 Click for references
Exon 10 c.1859_1860delGCinsTG p.C620L Likely Pathogenic
see comments
Unknown 19 Click for references
Exon 10 c.1860C>G p.C620W Pathogenic Unknown 37 Click for references
Exon 10 c.1860C>T p.C620= Likely Benign No MEN2 Disease Click for references
Exon 10 c.1867G>A
see comments
p.E623K Uncertain Unknown Click for references
Intron 10 c.1879+4A>G Uncertain Unknown 55 Click for references
Exon 11 c.1888T>C p.C630R Pathogenic Classical MEN2A;
or FMTC
1 Click for references
Exon 11 c.1889G>A p.C630Y Pathogenic Classical MEN2A;
or Unclassified MEN2
22 Click for references
Exon 11 c.1889G>C p.C630S Pathogenic Unclassified MEN2 39 Click for references
Exon 11 c.1889G>T p.C630F Likely Pathogenic Unknown Click for references
Exon 11 c.1890C>T
see comments
p.C630= Likely Benign No MEN2 disease Click for references
Exon 11 c.1891G>A p.D631N Uncertain Unknown 59 Click for references
Exon 11 c.1891G>T p.D631Y Pathogenic Classical MEN2A 30 Click for references
Exon 11 c.1892A>C p.D631A Uncertain Unknown Click for references
Exon 11 c.1892A>G p.D631G Uncertain Unknown Click for references
Exon 11 c.1892A>T
see comments
p.D631V Uncertain Unknown Click for references
Exon 11 c.1893C>A
see comments
p.D631E Uncertain Unknown Click for references
Exon 11 c.1893C>T
see comments
p.D631= Likely Benign No MEN2 Disease Click for references
Exon 11 c.1893_1895del
CGA
p.D631del Likely Pathogenic Classical MEN2A 31 Click for references
Exon 11 c.1894G>A p.E632K Uncertain Unknown 53 Click for references
Exon 11 c.1895A>G p.E632G Uncertain Unknown Click for references
Exon 11 c.1896_1900delinsCGTGC
see comments
p.E632_C634delinsDVR Pathogenic Unknown Click for references
Exon 11 c.1900T>A p.C634S Pathogenic Classical MEN2A;
or Unclassified MEN2
8 Click for references
Exon 11 c.1900T>C p.C634R Pathogenic Classical MEN2A;
MEN2A with CLA;
or FMTC
1.4 Click for references
Exon 11 c.1900T>G p.C634G Pathogenic Classical MEN2A;
or MEN2A with CLA
3 Click for references
Exon 11 c.1901G>A p.C634Y Pathogenic Classical MEN2A;
or MEN2A with CLA
0.8 Click for references
Exon 11 c.1901G>C p.C634S Pathogenic Classical MEN2A;
or FMTC
4 Click for references
Exon 11 c.1901G>T p.C634F Pathogenic Classical MEN2A;
or MEN2A with CLA
3 Click for references
Exon 11 c.1901_1902
delinsTG
p.C634L Likely Pathogenic
see comments
Unknown Click for references
Exon 11 c.1902C>G p.C634W Pathogenic Classical MEN2A;
or MEN2A with CLA
3 Click for references
Exon 11 c.1892_1903dup
ACGAGCTGTGCC
p.C634_R635insHELC likely pathogenic Classical MEN2A Click for references
Exon 11 c.1900_1908dup
TGCCGCACG
p.C634_T636dupCRT Likely Pathogenic Classical MEN2A 56 Click for references
Exon 11 c.1903C>G
see comments
p.R635G Uncertain Unknown Click for references
Exon 11 c.1903C>T p.R635C Uncertain Unknown Click for references
Exon 11 c.1906delins
GACCTGTGCCGCC
p.T636delinsDLCRP Likely Pathogenic Unclassified MEN2 9 Click for references
Exon 11 c.1907C>T p.T636M Uncertain Unknown 78 Click for references
Exon 11 c.1919C>G
see comments
p.A640G Uncertain Unknown Click for references
Exon 11 c.1921G>T
see comments
p.A641S Uncertain Unknown Click for references
Exon 11 c.1930T>G p.F644V Uncertain Unknown 35 Click for references
Exon 11 c.1942G>A
see comments
p.V648I Likely Benign No MEN2 Disease Click for references
Exon 11 c.1946C>T
see comments
p.S649L Likely Benign No MEN2 Disease Click for references
Exon 11 c.1947G>A p.S649= Uncertain Unknown Click for references
Exon 11 c.1995C>G
see comments
p.H665Q Uncertain Unknown Click for references
Exon 11 c.1996A>G p.K666E Likely pathogenic Unclassified MEN2 35 Click for references
Exon 11 c.1997A>C p.K666T Likely Pathogenic Classical MEN2A 41 Click for references
Exon 11 c.1997A>G p.K666R Uncertain Unknown 38 Click for references
Exon 11 c.1997A>T p.K666M Uncertain Unknown 40 Click for references
Exon 11 c.1998G>C p.K666N Likely pathogenic Unknown 63 Click for references
Exon 11 c.1998G>T
see comments
p.K666N Likely pathogenic Classical MEN2A;
or Unclassified MEN2
22 Click for references
Exon 11 c.1998delGins
TTCT
p.K666delinsNS Likely Pathogenic Classical MEN2A;
or Unclassified MEN2
12 Click for references
Exon 11 c.2037C>T
see comments
p.P679= Benign No MEN2 Disease Click for references
Exon 11 c.2052G>A p.P684= Benign No MEN2 Disease Click for references
Exon 11 c.2057G>A p.S686N Uncertain Unknown Click for references
Exon 11 c.2071G>A p.G691S Benign No MEN2 Disease Click for references
Exon 11 c.2097C>T p.S699= Likely Benign No MEN2 Disease Click for references
Exon 11 c.2098A>T
see comments
p.M700L Uncertain Unknown Click for references
Exon 11 c.2121T>A
see comments
p.D707E Uncertain unknown 18 Click for references
Exon 12 c.2248G>C p.A750P Uncertain Unknown Click for references
Exon 13 c.2304G>C p.E768D Pathogenic Classical MEN2A;
or FMTC
22 Click for references
Exon 13 c.2304G>T
see comments
p.E768D Pathogenic Unclassified MEN2 41 Click for references
Exon 13 c.2307G>T p.L769= Benign No MEN2 Disease Click for references
Exon 13 c.2309G>A p.R770Q Uncertain Unknown 42 Click for references
Exon 13 c.2311G>A p.D771N Uncertain Unknown Click for references
Exon 13 c.2330A>G p.N777S Uncertain Unknown 60 Click for references
Exon 13 c.2332G>A
see comments
p.V778I Uncertain Unknown 42 Click for references
Exon 13 c.2342A>G
see comments
p.Q781R Uncertain Unknown 71 Click for references
Exon 13 c.2348A>G p.N783S Uncertain Unknown 57 Click for references
Exon 13 c.2364C>T p.I788= likely benign No MEN2 Disease Click for references
Exon 13 c.2370G>C p.L790F Pathogenic Classical MEN2A;
or Unclassified MEN2
Click for references
Exon 13 c.2370G>T p.L790F Pathogenic Classical MEN2A;
or Unclassified MEN2
14 Click for references
Exon 13 c.2371T>A p.Y791N Uncertain Unknown 25 Click for references
Exon 13 c.2372A>T p.Y791F Benign No MEN2 Disease Click for references
Exon 14 c.2410G>A
see comments
p.V804M Pathogenic Classical MEN2A;
MEN2A with CLA;
or FMTC
6 Click for references
Exon 14 c.2410G>C p.V804L Pathogenic Unclassified MEN2 Click for references
Exon 14 c.2410G>T
see comments
p.V804L Pathogenic Classical MEN2A;
or FMTC
12 Click for references
Exon 14 c.2411T>C p.V804A Likely Pathogenic Unknown Click for references
Exon 14 c.2413G>A
see comments
p.E805K Uncertain Unknown 50 Click for references
Exon 14 c.2417A>G
see comments
p.Y806C Uncertain Unknown Click for references
Exon 14 c.2452G>A p.E818K Uncertain Unknown Click for references
Exon 14 c.2456G>T
see comments
p.S819I Uncertain Unknown Click for references
Exon 14 c.2477A>C
see comments
p.Y826S Uncertain Unknown Click for references
Exon 14 c.2497C>T p.R833C Uncertain Unknown 59 Click for references
Exon 14 c.2508C>T p.S836= Benign No MEN2 Disease Click for references
Exon 14 c.2522C>T p.P841L Uncertain Unknown Click for references
Exon 14 c.2523G>A p.P841= Benign No MEN2 Disease Click for references
Exon 14 c.2529G>T
see comments
p.E843D Uncertain Unknown Click for references
Exon 14 c.2530C>T p.R844W Uncertain Unknown Click for references
Exon 14 c.2531G>A p.R844Q Uncertain Unknown 44 Click for references
Exon 14 c.2531G>T
see comments
p.R844L Uncertain unknown Click for references
Exon 14 c.2535C>T p.A845= Likely Benign No MEN2 Disease Click for references
Exon 14 c.2543T>C p.M848T Uncertain Unknown 67 Click for references
Exon 14 c.2556C>G
see comments
p.I852M Uncertain Unknown 20 Click for references
Intron 14 c.2608-24G>A Benign No MEN2 Disease Click for references
Exon 15 c.2641C>G p.L881V Uncertain Unknown 46 Click for references
Exon 15 c.2647G>A
see comments
p.A883T Uncertain Unknown 68 Click for references
Exon 15 c.2647_2648
delinsTT
p.A883F Pathogenic MEN2B 10 Click for references
Exon 15 c.2656C>T p.R886W Likely Pathogenic Unknown 44 Click for references
Exon 15 c.2671T>G p.S891A Pathogenic Classical MEN2A;
or FMTC
13 Click for references
Exon 15 c.2673G>A
see comments
p.S891= Benign No MEN2 Disease Click for references
Exon 15 c.2692G>T p.D898Y Uncertain Unknown Click for references
Exon 15 c.2711C>G
see comments
p.S904C Uncertain Unknown Click for references
Exon 15 c.2711C>T p.S904F Likely Pathogenic FMTC;
or Unclassified MEN2
28 Click for references
Exon 15 c.2712C>G p.S904= Benign No MEN2 Disease Click for references
Exon 15 c.2719A>G p.K907E Uncertain Unknown Click for references
Exon 15 c.2720A>T p.K907M Uncertain Unknown Click for references
Exon 16 c.2735G>A p.R912Q Uncertain Unknown Click for references
Exon 16 c.2735G>C p.R912P Uncertain Unknown 14 Click for references
Exon 16 c.2752A>G p.M918V Uncertain
see comments
Unknown 24 Click for references
Exon 16 c.2753T>C p.M918T Pathogenic MEN2B 0.17 Click for references
Exon 16 c.2765C>A
see comments
p.S922Y Uncertain Unknown Click for references
Exon 17 c.2832C>G
see comments
p.I944M Uncertain Unknown Click for references
Exon 18 c.3025A>G p.M1009V Uncertain Unknown Click for references
Exon 19 c.3049G>A p.D1017N Uncertain Unknown Click for references
Exon 19 c.3122T>G p.V1041G Uncertain Unknown Click for references