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MEN2 RET Database Display Page

• RET sequence variation is listed 5' to 3' and is heterozygous unless otherwise stated.
• Click arrows to sort by Classification or MEN2 Phenotype.
• Comments may include classification and MEN2 Phenotype information, as well as additional references (listed as PubMed ID #).
  Place mouse pointer over the icon to see comments.

Click for a detailed description of:

All rows from MEN2 database displayed (139 total)

Location	Codon Number	Codon Change	Protein Change	Genotype (cDNA)	Classification	MEN2 Phenotype	MTC Onset	First Reference	Comments
Exon 10	609	TGC-TGG	C609W	c.1827C>G	HSCR variant	No MEN2 disease		Mulligan (1994) #1
Exon 5	292	GTG-ATG	V292M	c.874G>A	mutation	MEN2A	44	Verrienti (2008)
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-TGC	G533C	c.1597G>T	mutation	MEN2A and FMTC	21	da Silva (2003)
Exon 10	609	TGC-CGC	C609R	c.1825T>C	mutation	MEN2A and FMTC	27	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	17	Klein (2001)
Exon 10	609	TGC-TTC	C609F	c.1826G>T	mutation	Unclassified		Siegelman (1997)
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-TCT	C611S	c.1832_1833 delinsCT	mutation	Unclassified	47	Nishikawa (2003)
Exon 10	611	TGC-TTC	C611F	c.1832G>T	mutation	MEN2A and FMTC	41	Frank-Raue (1996)
Exon 10	611	TGC-TGG	C611W	c.1833C>G	mutation	MEN2A and FMTC	79	Donis-Keller (1993)
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	34	Wells (1994)
Exon 10	618	TGC-TGG	C618W	c.1854C>G	mutation	Unclassified		Liu (1998)
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	40	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 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-TTC	C630F	c.1889G>T	mutation	FMTC and Unclassified		Komminoth (1995)
Exon 11	631			c.1891_1893 del GAC	mutation	MEN2A	31	Yao (2007)
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	632			c.1896_1900 delinsCGTGC	mutation	MEN2A and Unclassified		Mulligan (1993)
Exon 11	634	TGC-AGC	C634S	c.1900T>A	mutation	MEN2A and Unclassified	31	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-TAC	C634Y	c.1901G>A see comments	mutation	MEN2A and FMTC	16
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	3	Mulligan (1994) #2
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	649	TCG-TTG	S649L	c.1946C>T	mutation	Unclassified	44	Wiench (2001)
Exon 11	649	TCG-TTG	S649L	c.1946C>T see comments	mutation	Unclassified		Paszko (2007)
Exon 11	649	TCG-TTG	S649L	c.1946C>T see comments	mutation	Unclassified	29	Colombo-Benkmann (2008)
Exon 11	649	TCG-TTG	S649L	c.1946C>T see comments	mutation	Unclassified	47	Colombo-Benkmann (2008)
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 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	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-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	16
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 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	891	TCG-GCG	S891A	c.2671T>G	mutation	MEN2A and FMTC	13	Hofstra (1997)
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 10	616			c.1846_1848delGAG see comments	polymorphism	No MEN2 disease	31	Ahmed (2005)
Exon 10	623	GAA-AAA	E623K	c.1867G>A see comments	polymorphism	No MEN2 disease		Siegelman (1997)
Exon 11	691	GGT-AGT	G691S	c.2071G>A	polymorphism	No MEN2 disease		Ceccherini (1994)
Exon 13	769	CTT-CTG	L769L	c.2307T>G	polymorphism	No MEN2 disease		Ceccherini (1994)
Exon 14	806	TAC-TGC	Y806C	c.2417A>G see comments	polymorphism	No MEN2 disease	23	Miyauchi (1999)
Exon 14	836	AGC-AGT	S836S	c.2508C>T	polymorphism	No MEN2 disease		Gimm (1999)
Intron 14				c.2608-24G>A	polymorphism	No MEN2 disease		Gath (2001)
Exon 15	904	TCC-TCG	S904S	c.2712C>G	polymorphism	No MEN2 disease		Ceccherini (1994)
Exon 16	922	TCC-TAC	S922Y	c.2765C>A see comments	polymorphism	No MEN2 disease		Kitamura (1995)
Exon 5	321	GGG-AGG	G321R	c.961G>A	VUS	Unknown	61	Dvorakova (2005)
Exon 8	511	GAG-AAG	E511K	c.1531G>A	VUS	Unknown		Prazeres (2008)
Exon 8	533	GGC-AGC	G533S	c.1597G>A	VUS	Unknown		Sangkhathat (2006)
Intron 9				c.1760-12G>A	VUS	Unknown	68	Ahmed (2005)
Exon 10	600	CGG-CAG	R600Q	c.1799G>A	VUS	Unknown	46	Saez (2000)
Exon 10	603	AAA-CAA	K603Q	c.1807A>C	VUS	Unknown	35	Rey (2001)
Exon 10	606	TAT-TGT	Y606C	c.1817A>G	VUS	Unknown		Ahmed (2005)
Exon 10	609	TGC-AGC	C609S	c.1825T>A	VUS	Unknown		Fitze (2002)
Exon 10	611	TGC-TCC	C611S	c.1832G>C	VUS	Unknown		Kruckeburg (2004)
Exon 10	619	TTC-TTT	F619F	c.1857C>T see comments	VUS	Unknown	28	Landsvater (1996)
Intron 10				c.1879+4A>G	VUS	Unknown	55	Veljkovic (2004)
Exon 11	630	TGC-TCC	C630S	c.1889G>C	VUS	Unknown	39	Kitamura (1997)
Exon 11	631	GAC-AAC	D631N	c.1891G>A	VUS	Unknown		Asai (1999)
Exon 11	631	GAC-GCC	D631A	c.1892A>C	VUS	Unknown		Asai (1999)
Exon 11	631	GAC-GGC	D631G	c.1892A>G	VUS	Unknown		Shirahama (1998)
Exon 11	631	GAC-GTC	D631V	c.1892A>T	VUS	Unknown		Kruckeburg (2004)
Exon 11	631	GAC-GTC	D631V	c.1892A>T see comments	VUS	Unknown		Ahmed (2005)
Exon 11	631	GAC-GAA	D631E	c.1893C>A see comments	VUS	Unknown	37	Kruckeburg (2004)
Exon 11	631	GAC-GAT	D631D	c.1893C>T see comments	VUS	Unknown		Kruckeburg (2004)
Exon 11	632	GAG-AAG	E632K	c.1894G>A	VUS	Unknown	53	Frank-Raue (2007)
Exon 11	635	CGC-GGC	R635G	c.1903C>G see comments	VUS	Unknown	4	Lips (1994)
Exon 11	640	GCC-GGC	A640G	c.1919C>G see comments	VUS	Unknown	26	Tessitore (1999)
Exon 11	641	GCT-TCT	A641S	c.1921G>T see comments	VUS	Unknown	13	Poturnajova (2005)
Exon 11	648	GTC-ATC	V648I	c.1942G>A see comments	VUS	Unknown	34	Nunes (2002)
Exon 11	649	TCG-TCA	S649S	c.1947G>A	VUS	Unknown		Salomon (1996)
Exon 11	665	CAC-CAG	H665Q	c.1995C>G see comments	VUS	Unknown		Ahmed (2005)
Exon 13	770	CGA-CAA	R770Q	c.2309G>A	VUS	Unknown	44	Rondot (2008)
Exon 13	777	AAC-AGC	N777S	c.2330A>G	VUS	Unknown	60	D'Aloiso (2006)
Exon 13	778	GTC-ATC	V778I	c.2332G>A homozygous	VUS	Unknown	72	Miyauchi (2002)
Exon 13	778	GTC-ATC	V778I	c.2332G>A see comments	VUS	Unknown	26	Kasprzak (2001)
Exon 13	791	TAT-AAT	Y791N	c.2371T>A	VUS	Unknown	25	Ruiz-Ferrer (2006)
Exon 14	805	GAG-AAG	E805K	c.2413G>A see comments	VUS	Unknown	50	Cranston (2006) #1
Exon 14	818	GAG-AAG	E818K	c.2452G>A	VUS	Unknown		Paszko (2007)
Exon 14	819	AGC-ATC	S819I	c.2456G>T see comments	VUS	Unknown	40	Koch (2000)
Exon 14	833	CGC-TGC	R833C	c.2497C>T	VUS	Unknown	59	Cranston (2006) #2
Exon 14	841	CCG-CTG	P841L	c.2522C>T	VUS	Unknown		Decker (1997)
Exon 14	841	CCG-CCA	P841P	c.2523G>A	VUS	Unknown		Kitamura (1997)
Exon 14	843	GAG-GAT	E843D	c.2529G>T see comments	VUS	Unknown	40	Koch (2000)
Exon 14	844	CGG-TGG	R844W	c.2530C>T	VUS	Unknown		Kim (2006)
Exon 14	844	CGG-CAG	R844Q	c.2531G>A	VUS	Unknown		Paszko (2007)
Exon 14	844	CGG-CTG	R844L	c.2531G>T see comments	VUS	Unknown	55	Bartsch (2000)
Exon 14	845	GCC-GCT	A845A	c.2535C>T	VUS	Unknown		Wiench (2001)
Exon 14	848	ATG-ACG	M848T	c.2543T>C	VUS	Unknown	67	Elisei (2007)
Exon 14	852	ATC-ATG	I852M	c.2556C>G	VUS	Unknown	20	Demeester (2001)
Exon 15	881	CTG-GTG	L881V	c.2641C>G	VUS	Unknown	46	Rondot (2008)
Exon 15	886	CGG-TGG	R886W	c.2656C>T	VUS	Unknown	44	Prazeres (2006)
Exon 15	891	TCG-TCA	S891S	c.2673G>A	VUS	Unknown		Margraf: personal communication
Exon 15	904	TCC-TGC	S904C	c.2711C>G see comments	VUS	Unknown	18	Menko (2002)
Exon 15	904	TCC-TTC	S904F	c.2711C>T	VUS	Unknown	40	Elisei (2007)
Exon 15	907	AAG-GAG	K907E	c.2719A>G	VUS	Unknown		Attie (1995)
Exon 15	907	AAG-ATG	K907M	c.2720A>T	VUS	Unknown		Kaserer (2001)
Exon 16	912	CGG-CAG	R912Q	c.2735G>A	VUS	Unknown		Fitze (2002)