RET[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17417941.	NM_020975.6(RET):c.45dup (p.Leu16fs) GRCh37: Chr10:43572750-43572751 GRCh38: Chr10:43077302-43077303	RET	L16fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 6535222.	NC_000010.11:g.(?_43100449)_(43102639_?)del GRCh37: Chr10:43595897-43598087 GRCh38: Chr10:43100449-43102639	RET		Multiple endocrine neoplasia, type 2	Likely pathogenic (Sep 26, 2018)	criteria provided, single submitter
Select item 14994293.	NM_020975.6(RET):c.74-2A>T GRCh37: Chr10:43595905 GRCh38: Chr10:43100457	RET		Multiple endocrine neoplasia, type 2	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 139234.	NM_020975.6(RET):c.95C>T (p.Ser32Leu) GRCh37: Chr10:43595928 GRCh38: Chr10:43100480	RET	S32L	Multiple endocrine neoplasia, type 2	Likely pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 9981555.	NM_020975.6(RET):c.99_100del (p.Asp34fs) GRCh37: Chr10:43595931-43595932 GRCh38: Chr10:43100483-43100484	RET	D34fs	Colorectal cancer	Pathogenic	no assertion criteria provided
Select item 5996306.	NM_020975.6(RET):c.111G>A (p.Trp37Ter) GRCh37: Chr10:43595944 GRCh38: Chr10:43100496	RET	W37*	Aganglionic megacolon	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 10693817.	NM_020975.6(RET):c.229C>T (p.Arg77Cys) GRCh37: Chr10:43596062 GRCh38: Chr10:43100614	RET	R77C	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 6427868.	NM_020975.6(RET):c.268G>T (p.Glu90Ter) GRCh37: Chr10:43596101 GRCh38: Chr10:43100653	RET	E90*	Multiple endocrine neoplasia, type 2	Pathogenic (Jul 30, 2018)	criteria provided, single submitter
Select item 14057159.	NM_020975.6(RET):c.317G>A (p.Trp106Ter) GRCh37: Chr10:43596150 GRCh38: Chr10:43100702	RET	W106*	Multiple endocrine neoplasia, type 2	Pathogenic (Jul 21, 2021)	criteria provided, single submitter
Select item 106963710.	NM_020975.6(RET):c.318G>A (p.Trp106Ter) GRCh37: Chr10:43596151 GRCh38: Chr10:43100703	RET	W106*	Multiple endocrine neoplasia, type 2	Pathogenic (Oct 13, 2021)	criteria provided, single submitter
Select item 98852411.	NM_020975.6(RET):c.440_442del (p.Phe147del) GRCh37: Chr10:43597890-43597892 GRCh38: Chr10:43102442-43102444	RET	F147del	not provided	Pathogenic (Aug 31, 2015)	criteria provided, single submitter
Select item 59963112.	NM_020975.6(RET):c.440T>C (p.Phe147Ser) GRCh37: Chr10:43597892 GRCh38: Chr10:43102444	RET	F147S	Aganglionic megacolon	Likely pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 174687113.	NM_020975.6(RET):c.532dup (p.Glu178fs) GRCh37: Chr10:43597981-43597982 GRCh38: Chr10:43102533-43102534	RET	E178fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 1392514.	NM_020975.6(RET):c.538C>T (p.Arg180Ter) GRCh37: Chr10:43597990 GRCh38: Chr10:43102542	RET	R180, R137	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 59963215.	NM_020975.6(RET):c.604G>C (p.Val202Leu) GRCh37: Chr10:43598056 GRCh38: Chr10:43102608	RET	V202L, V159L	Aganglionic megacolon	Likely pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 175402416.	NM_020975.6(RET):c.652_653dup (p.Asp219fs) GRCh37: Chr10:43600423-43600424 GRCh38: Chr10:43104975-43104976	RET	D219fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 14, 2015)	criteria provided, single submitter
Select item 69205217.	NM_020975.6(RET):c.712G>T (p.Glu238Ter) GRCh37: Chr10:43600486 GRCh38: Chr10:43105038	RET	E238, E142, E195*	Hirschsprung disease, susceptibility to, 1	Pathogenic (Sep 27, 2018)	criteria provided, single submitter
Select item 244536918.	NM_020975.6(RET):c.818C>A (p.Pro273His) GRCh37: Chr10:43600592 GRCh38: Chr10:43105144	RET	P177H, P19H, P230H, P273H	Ovarian cancer	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 69207119.	NM_020975.6(RET):c.860G>T (p.Arg287Leu) GRCh37: Chr10:43600634 GRCh38: Chr10:43105186	RET	R287L, R33L, R191L, R244L	Aganglionic megacolon	Likely pathogenic (Jan 25, 2019)	criteria provided, single submitter
Select item 56062520.	NM_020975.6(RET):c.860G>A (p.Arg287Gln) GRCh37: Chr10:43600634 GRCh38: Chr10:43105186	RET	R287Q, R33Q, R191Q, R244Q	Aganglionic megacolon	Pathogenic (Nov 3, 2006)	no assertion criteria provided
Select item 28019321.	NM_020975.6(RET):c.890dup (p.Val298fs) GRCh37: Chr10:43601845-43601846 GRCh38: Chr10:43106397-43106398	RET	V44fs, V298fs	not provided	Pathogenic (Jan 8, 2016)	criteria provided, single submitter
Select item 96329922.	NM_020975.6(RET):c.936_939del (p.Arg312fs) GRCh37: Chr10:43601891-43601894 GRCh38: Chr10:43106443-43106446	RET	R312fs, R58fs	Multiple endocrine neoplasia, type 2	Pathogenic (Jul 11, 2019)	criteria provided, single submitter
Select item 1392623.	NM_020975.6(RET):c.989G>A (p.Arg330Gln) GRCh37: Chr10:43601945 GRCh38: Chr10:43106497	RET	R330Q, R76Q, R287Q, R234Q	Multiple endocrine neoplasia, type 2	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 202420024.	NM_020975.6(RET):c.1001G>A (p.Trp334Ter) GRCh37: Chr10:43601957 GRCh38: Chr10:43106509	RET	W238, W334, W80, W291	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 179872425.	NM_020975.6(RET):c.1010_1017del (p.Glu337fs) GRCh37: Chr10:43601964-43601971 GRCh38: Chr10:43106516-43106523	RET	E83fs, E337fs	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 212326626.	NM_020975.6(RET):c.1044_1051dup (p.Val351fs) GRCh37: Chr10:43601997-43601998 GRCh38: Chr10:43106549-43106550	RET	V351fs, V97fs	Multiple endocrine neoplasia, type 2	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 96929727.	NM_020975.6(RET):c.1151del (p.Pro384fs) GRCh37: Chr10:43604564 GRCh38: Chr10:43109116	RET	P130fs, P384fs	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 4, 2020)	criteria provided, single submitter
Select item 140331228.	NM_020975.6(RET):c.1252C>T (p.Arg418Ter) GRCh37: Chr10:43604667 GRCh38: Chr10:43109219	RET	R418, R164, R375, R88, R272, R176, R322*	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 59079829.	NM_020975.6(RET):c.1280_1281del (p.Val427fs) GRCh37: Chr10:43606667-43606668 GRCh38: Chr10:43111219-43111220	RET	V173fs, V427fs	Hirschsprung disease, susceptibility to, 1, Sensorineural hearing loss disorder	Pathogenic (Nov 6, 2018)	criteria provided, single submitter
Select item 145205530.	NM_020975.6(RET):c.1315C>T (p.Gln439Ter) GRCh37: Chr10:43606706 GRCh38: Chr10:43111258	RET	Q185, Q439, Q197, Q293, Q264, Q343, Q396, Q307, Q109*	Multiple endocrine neoplasia, type 2	Pathogenic (Jun 21, 2021)	criteria provided, single submitter
Select item 52130331.	NM_020975.6(RET):c.1425dup (p.Pro476fs) GRCh37: Chr10:43606814-43606815 GRCh38: Chr10:43111366-43111367	RET	P476fs, P222fs	Inborn genetic diseases	Pathogenic (Oct 24, 2016)	criteria provided, single submitter
Select item 170965032.	NM_020975.6(RET):c.1438G>T (p.Glu480Ter) GRCh37: Chr10:43606829 GRCh38: Chr10:43111381	RET	E150, E226, E238, E305, E334, E348, E384, E437, E480*	Hirschsprung disease, susceptibility to, 1	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 81931333.	NM_020975.6(RET):c.1471C>T (p.Gln491Ter) GRCh37: Chr10:43606862 GRCh38: Chr10:43111414	RET	Q491, Q237, Q316, Q395, Q161, Q249, Q345, Q359, Q448*	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177387434.	NM_020975.6(RET):c.1495C>T (p.Gln499Ter) GRCh37: Chr10:43606886 GRCh38: Chr10:43111438	RET	Q257, Q324, Q367, Q403, Q499, Q245, Q456, Q169, Q353*	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180578635.	NM_020975.6(RET):c.1522+1G>A GRCh37: Chr10:43606914 GRCh38: Chr10:43111466	RET		Hirschsprung disease, susceptibility to, 1	Likely pathogenic (May 26, 2020)	criteria provided, single submitter
Select item 106597136.	NM_020975.6(RET):c.1522+2T>C GRCh37: Chr10:43606915 GRCh38: Chr10:43111467	RET		Multiple endocrine neoplasia, type 2	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 1394137.	NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys) GRCh37: Chr10:43607601-43607602 GRCh38: Chr10:43112153-43112154	RET		Familial medullary thyroid carcinoma	Pathogenic (May 1, 1999)	no assertion criteria provided
Select item 1395038.	NM_020975.6(RET):c.1597G>T (p.Gly533Cys) GRCh37: Chr10:43607621 GRCh38: Chr10:43112173	RET	G533C, G279C, G203C, G234C, G191C, G387C, G401C, G437C, G490C, G358C, G138C, G291C, G50C	Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b, not provided, not specified, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Jan 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213366539.	NM_020975.6(RET):c.1622G>A (p.Cys541Tyr) GRCh37: Chr10:43607646 GRCh38: Chr10:43112198	RET	C498Y, C211Y, C242Y, C395Y, C409Y, C199Y, C287Y, C445Y, C58Y, C146Y, C299Y, C366Y, C541Y	Multiple endocrine neoplasia, type 2	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 177755340.	NM_020975.6(RET):c.1664T>G (p.Phe555Cys) GRCh37: Chr10:43608316 GRCh38: Chr10:43112868	RET	F213C, F423C, F459C, F512C, F555C, F72C, F301C, F256C, F313C, F160C, F225C, F380C, F409C	Hereditary cancer-predisposing syndrome	Likely pathogenic (Nov 4, 2015)	criteria provided, single submitter
Select item 69503141.	NM_020975.6(RET):c.1753T>C (p.Cys585Arg) GRCh37: Chr10:43608405 GRCh38: Chr10:43112957	RET	C585R, C331R, C343R, C410R, C102R, C453R, C542R, C489R, C190R, C243R, C255R, C286R, C439R	Aganglionic megacolon	Likely pathogenic (Sep 19, 2018)	criteria provided, single submitter
Select item 243162842.	NM_020975.6(RET):c.1759+1G>A GRCh37: Chr10:43608412 GRCh38: Chr10:43112964	RET		Hirschsprung disease, susceptibility to, 1	Likely pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 177956443.	NM_020975.6(RET):c.1760-2_1760-1del GRCh37: Chr10:43609002-43609003 GRCh38: Chr10:43113554-43113555	RET		Hereditary cancer-predisposing syndrome, not provided	Likely pathogenic (Dec 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65795544.	NM_020975.6(RET):c.1783G>T (p.Glu595Ter) GRCh37: Chr10:43609027 GRCh38: Chr10:43113579	RET	E595, E341, E253, E112, E200, E353, E463, E265, E420, E449, E296, E499, E552*	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 15, 2018)	criteria provided, single submitter
Select item 2489245.	NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) GRCh37: Chr10:43609061 GRCh38: Chr10:43113613	RET	Y352C, Y211C, Y307C, Y364C, Y123C, Y264C, Y474C, Y563C, Y431C, Y276C, Y460C, Y510C	Hereditary cancer-predisposing syndrome	Likely pathogenic (Jul 2, 2019)	criteria provided, single submitter
Select item 1394446.	NM_020975.6(RET):c.1825T>C (p.Cys609Arg) GRCh37: Chr10:43609069 GRCh38: Chr10:43113621	RET	C609R, C355R, C126R, C434R, C310R, C279R, C367R, C477R, C566R, C214R, C267R, C463R, C513R	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137261147.	NM_020975.6(RET):c.1826G>C (p.Cys609Ser) GRCh37: Chr10:43609070 GRCh38: Chr10:43113622	RET	C609S, C355S, C126S, C279S, C214S, C367S, C463S, C477S, C566S, C267S, C310S, C434S, C513S	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3828448.	NM_020975.6(RET):c.1826G>T (p.Cys609Phe) GRCh37: Chr10:43609070 GRCh38: Chr10:43113622	RET	C355F, C214F, C279F, C367F, C463F, C477F, C126F, C434F, C513F, C566F, C267F, C310F	Hereditary cancer-predisposing syndrome, not specified, Multiple endocrine neoplasia, type 2	Pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1393349.	NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) GRCh37: Chr10:43609070 GRCh38: Chr10:43113622	RET	C609Y, C355Y, C279Y, C463Y, C513Y, C310Y, C477Y, C367Y, C126Y, C214Y, C267Y, C434Y, C566Y	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37631250.	NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del) GRCh37: Chr10:43609074-43609100 GRCh38: Chr10:43113626-43113652	RET		Medullary thyroid carcinoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 178097151.	NM_020975.6(RET):c.1831T>A (p.Cys611Ser) GRCh37: Chr10:43609075 GRCh38: Chr10:43113627	RET	C611S, C357S, C281S, C312S, C436S, C479S, C515S, C568S, C369S, C128S, C465S, C216S, C269S	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 2489752.	NM_020975.6(RET):c.1831T>G (p.Cys611Gly) GRCh37: Chr10:43609075 GRCh38: Chr10:43113627	RET	C357G, C281G, C436G, C465G, C369G, C216G, C269G, C312G, C479G, C515G, C128G, C568G	not provided	Pathogenic (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2489653.	NM_020975.6(RET):c.1831T>C (p.Cys611Arg) GRCh37: Chr10:43609075 GRCh38: Chr10:43113627	RET	C357R, C281R, C479R, C216R, C515R, C568R, C269R, C312R, C465R, C128R, C369R, C436R	Multiple endocrine neoplasia, type 2	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 213685854.	NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr) GRCh37: Chr10:43609076-43609077 GRCh38: Chr10:43113628-43113629	RET	C611Y, C357Y, C216Y, C281Y, C515Y, C128Y, C269Y, C479Y, C568Y, C312Y, C369Y, C436Y, C465Y	Multiple endocrine neoplasia, type 2	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 2489955.	NM_020975.6(RET):c.1832G>T (p.Cys611Phe) GRCh37: Chr10:43609076 GRCh38: Chr10:43113628	RET	C357F, C269F, C281F, C128F, C216F, C312F, C436F, C465F, C568F, C369F, C479F, C515F	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2489856.	NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) GRCh37: Chr10:43609076 GRCh38: Chr10:43113628	RET	C357Y, C269Y, C479Y, C128Y, C216Y, C281Y, C312Y, C369Y, C436Y, C515Y, C465Y, C568Y	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1391357.	NM_020975.6(RET):c.1833C>G (p.Cys611Trp) GRCh37: Chr10:43609077 GRCh38: Chr10:43113629	RET	C611W, C357W, C369W, C436W, C128W, C216W, C479W, C269W, C281W, C465W, C568W, C312W, C515W	Multiple endocrine neoplasia, type 2	Pathogenic (Dec 11, 2021)	criteria provided, single submitter
Select item 3860158.	NM_020975.6(RET):c.1852T>A (p.Cys618Ser) GRCh37: Chr10:43609096 GRCh38: Chr10:43113648	RET	C618S, C364S, C472S, C522S, C575S, C319S, C486S, C223S, C288S, C376S, C135S, C276S, C443S	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1392959.	NM_020975.6(RET):c.1852T>C (p.Cys618Arg) GRCh37: Chr10:43609096 GRCh38: Chr10:43113648	RET	C618R, C364R, C288R, C276R, C319R, C376R, C443R, C472R, C522R, C135R, C223R, C575R, C486R	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1390560.	NM_020975.6(RET):c.1852T>G (p.Cys618Gly) GRCh37: Chr10:43609096 GRCh38: Chr10:43113648	RET	C618G, C364G, C288G, C472G, C135G, C575G, C276G, C319G, C522G, C223G, C376G, C443G, C486G	Hereditary cancer-predisposing syndrome, Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Hirschsprung disease, susceptibility to, 1, Congenital central hypoventilation, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma ...see more	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2490261.	NM_020975.6(RET):c.1853G>T (p.Cys618Phe) GRCh37: Chr10:43609097 GRCh38: Chr10:43113649	RET	C364F, C135F, C276F, C522F, C288F, C319F, C376F, C486F, C223F, C472F, C575F, C443F	not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2490162.	NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) GRCh37: Chr10:43609097 GRCh38: Chr10:43113649	RET	C364Y, C223Y, C288Y, C522Y, C135Y, C276Y, C443Y, C472Y, C486Y, C575Y, C319Y, C376Y	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1391463.	NM_020975.6(RET):c.1853G>C (p.Cys618Ser) GRCh37: Chr10:43609097 GRCh38: Chr10:43113649	RET	C618S, C364S, C223S, C276S, C288S, C443S, C486S, C376S, C522S, C575S, C135S, C319S, C472S	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3860264.	NM_020975.6(RET):c.1858T>A (p.Cys620Ser) GRCh37: Chr10:43609102 GRCh38: Chr10:43113654	RET	C620S, C366S, C290S, C474S, C488S, C524S, C137S, C278S, C321S, C577S, C225S, C378S, C445S	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2490565.	NM_020975.6(RET):c.1858T>G (p.Cys620Gly) GRCh37: Chr10:43609102 GRCh38: Chr10:43113654	RET	C366G, C225G, C290G, C321G, C488G, C524G, C137G, C278G, C445G, C577G, C378G, C474G	Multiple endocrine neoplasia, type 2, Aganglionic megacolon, Hereditary cancer-predisposing syndrome, not specified, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a	Pathogenic (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1391566.	NM_020975.6(RET):c.1858T>C (p.Cys620Arg) GRCh37: Chr10:43609102 GRCh38: Chr10:43113654	RET	C620R, C366R, C137R, C321R, C474R, C524R, C278R, C445R, C378R, C225R, C290R, C488R, C577R	Aganglionic megacolon, Multiple endocrine neoplasia, type 2, Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1394367.	NM_020975.6(RET):c.1859G>C (p.Cys620Ser) GRCh37: Chr10:43609103 GRCh38: Chr10:43113655	RET	C620S, C366S, C225S, C278S, C137S, C474S, C290S, C321S, C445S, C488S, C577S, C378S, C524S	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1392868.	NM_020975.6(RET):c.1859G>T (p.Cys620Phe) GRCh37: Chr10:43609103 GRCh38: Chr10:43113655	RET	C620F, C366F, C225F, C321F, C488F, C290F, C278F, C474F, C137F, C378F, C445F, C524F, C577F	Hereditary cancer-predisposing syndrome, not provided, not specified, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a	Pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1391669.	NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) GRCh37: Chr10:43609103 GRCh38: Chr10:43113655	RET	C620Y, C366Y, C225Y, C321Y, C445Y, C488Y, C524Y, C278Y, C290Y, C378Y, C577Y, C137Y, C474Y	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1393470.	NM_020975.6(RET):c.1860C>G (p.Cys620Trp) GRCh37: Chr10:43609104 GRCh38: Chr10:43113656	RET	C620W, C366W, C137W, C278W, C378W, C225W, C321W, C524W, C290W, C445W, C474W, C488W, C577W	not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 223114371.	NM_020975.6(RET):c.1879+1del GRCh37: Chr10:43609122 GRCh38: Chr10:43113674	RET		Inborn genetic diseases	Likely pathogenic (May 19, 2021)	criteria provided, single submitter
Select item 66659572.	NM_020975.6(RET):c.1879+1G>A GRCh37: Chr10:43609124 GRCh38: Chr10:43113676	RET		Hirschsprung disease, susceptibility to, 1, not provided	Pathogenic/Likely pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3672573.	NM_020975.6(RET):c.1880-2A>G GRCh37: Chr10:43609926 GRCh38: Chr10:43114478	RET		Hirschsprung disease, susceptibility to, 1	Likely pathogenic (Aug 18, 2011)	criteria provided, single submitter
Select item 178201674.	NM_020975.6(RET):c.1888T>A (p.Cys630Ser) GRCh37: Chr10:43609936 GRCh38: Chr10:43114488	RET	C147S, C235S, C288S, C300S, C455S, C587S, C331S, C376S, C498S, C534S, C195S, C291S, C388S, C484S, C630S	Hereditary cancer-predisposing syndrome	Likely pathogenic (Jan 28, 2021)	criteria provided, single submitter
Select item 2490875.	NM_020975.6(RET):c.1888T>C (p.Cys630Arg) GRCh37: Chr10:43609936 GRCh38: Chr10:43114488	RET	C376R, C195R, C288R, C331R, C388R, C455R, C147R, C235R, C300R, C484R, C587R, C291R, C498R, C534R	Multiple endocrine neoplasia, type 2	Pathogenic (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2490976.	NM_020975.6(RET):c.1889G>A (p.Cys630Tyr) GRCh37: Chr10:43609937 GRCh38: Chr10:43114489	RET	C376Y, C195Y, C291Y, C388Y, C587Y, C147Y, C235Y, C331Y, C484Y, C288Y, C300Y, C498Y, C455Y, C534Y	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2491477.	NM_020975.6(RET):c.1891G>T (p.Asp631Tyr) GRCh37: Chr10:43609939 GRCh38: Chr10:43114491	RET	D377Y, D292Y, D389Y, D499Y, D588Y, D148Y, D236Y, D485Y, D301Y, D196Y, D289Y, D332Y, D456Y, D535Y	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1393078.	NM_020975.6(RET):c.1892_1903dup (p.Cys634_Arg635insHisGluLeuCys) GRCh37: Chr10:43609939-43609940 GRCh38: Chr10:43114491-43114492	RET		MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA	Pathogenic (Apr 1, 1997)	no assertion criteria provided
Select item 2491679.	NM_020975.6(RET):c.1892A>G (p.Asp631Gly) GRCh37: Chr10:43609940 GRCh38: Chr10:43114492	RET	D631G, D377G, D236G, D289G, D292G, D301G, D196G, D485G, D535G, D588G, D332G, D389G, D499G, D148G, D456G	Medullary thyroid carcinoma	Likely pathogenic (Jul 14, 2015)	no assertion criteria provided
Select item 98672780.	NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu) GRCh37: Chr10:43609941-43609946 GRCh38: Chr10:43114493-43114498	RET		Multiple endocrine neoplasia, type 2b	Likely pathogenic (Nov 19, 2020)	criteria provided, single submitter
Select item 178220981.	NM_020975.6(RET):c.1899_1900delinsAA (p.Cys634Ser) GRCh37: Chr10:43609947-43609948 GRCh38: Chr10:43114499-43114500	RET	C488S, C502S, C538S, C591S, C295S, C392S, C151S, C239S, C304S, C335S, C634S, C199S, C292S, C380S, C459S	Hereditary cancer-predisposing syndrome	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 82030382.	NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu) GRCh37: Chr10:43609948-43609949 GRCh38: Chr10:43114500-43114501	RET	C380L, C634L, C151L, C292L, C304L, C459L, C488L, C295L, C335L, C199L, C239L, C538L, C591L, C392L, C502L	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 8, 2019)	criteria provided, single submitter
Select item 3860583.	NM_020975.6(RET):c.1900T>A (p.Cys634Ser) GRCh37: Chr10:43609948 GRCh38: Chr10:43114500	RET	C634S, C380S, C199S, C239S, C292S, C392S, C488S, C502S, C591S, C335S, C459S, C151S, C295S, C304S, C538S	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2	Pathogenic (Jul 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 1391784.	NM_020975.6(RET):c.1900T>C (p.Cys634Arg) GRCh37: Chr10:43609948 GRCh38: Chr10:43114500	RET	C634R, C380R, C239R, C295R, C304R, C392R, C502R, C459R, C292R, C335R, C488R, C538R, C151R, C199R, C591R	Hereditary cancer-predisposing syndrome, Thyroid gland carcinoma, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a	Pathogenic (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1390885.	NM_020975.6(RET):c.1900T>G (p.Cys634Gly) GRCh37: Chr10:43609948 GRCh38: Chr10:43114500	RET	C634G, C380G, C304G, C335G, C488G, C199G, C239G, C295G, C392G, C502G, C538G, C151G, C459G, C591G, C292G	Hereditary cancer-predisposing syndrome, not provided, MEN2 phenotype: Unclassified, Multiple endocrine neoplasia, type 2, Familial medullary thyroid carcinoma	Pathogenic (Apr 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 202509786.	NM_020975.6(RET):c.1901_1902delinsTT (p.Cys634Phe) GRCh37: Chr10:43609949-43609950 GRCh38: Chr10:43114501-43114502	RET	C151F, C392F, C199F, C295F, C304F, C488F, C591F, C292F, C380F, C502F, C239F, C335F, C459F, C538F, C634F	Multiple endocrine neoplasia, type 2	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 1391187.	NM_020975.6(RET):c.1901G>T (p.Cys634Phe) GRCh37: Chr10:43609949 GRCh38: Chr10:43114501	RET	C634F, C380F, C295F, C459F, C335F, C392F, C488F, C199F, C292F, C304F, C502F, C538F, C151F, C239F, C591F	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1	Pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1391088.	NM_020975.6(RET):c.1901G>C (p.Cys634Ser) GRCh37: Chr10:43609949 GRCh38: Chr10:43114501	RET	C634S, C380S, C292S, C295S, C459S, C502S, C239S, C538S, C151S, C199S, C304S, C335S, C392S, C488S, C591S	not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2b	Pathogenic (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1390989.	NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) GRCh37: Chr10:43609949 GRCh38: Chr10:43114501	RET	C634Y, C380Y, C292Y, C392Y, C502Y, C538Y, C239Y, C335Y, C459Y, C591Y, C199Y, C304Y, C488Y, C151Y, C295Y	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145880590.	NM_020975.6(RET):c.1902_1903inv (p.Cys634_Arg635delinsTrpGly) GRCh37: Chr10:43609950-43609951 GRCh38: Chr10:43114502-43114503	RET		Multiple endocrine neoplasia, type 2	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 1391891.	NM_020975.6(RET):c.1902C>G (p.Cys634Trp) GRCh37: Chr10:43609950 GRCh38: Chr10:43114502	RET	C634W, C380W, C199W, C292W, C304W, C459W, C538W, C239W, C335W, C591W, C295W, C392W, C151W, C488W, C502W	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1394292.	NM_020975.6(RET):c.1919C>G (p.Ala640Gly) GRCh37: Chr10:43609967 GRCh38: Chr10:43114519	RET	A640G, A386G, A245G, A341G, A398G, A465G, A301G, A508G, A157G, A205G, A494G, A544G, A298G, A310G, A597G	Multiple endocrine neoplasia, type 2a	Pathogenic (Oct 1, 1999)	no assertion criteria provided
Select item 2492993.	NM_020975.6(RET):c.1947G>A (p.Ser649_Val650=) GRCh37: Chr10:43609995 GRCh38: Chr10:43114547	RET		not provided, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Congenital central hypoventilation, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204453194.	NM_020975.6(RET):c.1956_1965delinsACCACTCTACCACAAGTT (p.Ser653fs) GRCh37: Chr10:43610004-43610013 GRCh38: Chr10:43114556-43114565	RET	S399fs, S653fs	Multiple endocrine neoplasia, type 2	Pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 2493195.	NM_020975.6(RET):c.1996A>G (p.Lys666Glu) GRCh37: Chr10:43610044 GRCh38: Chr10:43114596	RET	K412E, K336E, K534E, K183E, K231E, K367E, K424E, K491E, K623E, K271E, K327E, K520E, K324E, K570E	Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 2, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Pheochromocytoma, Hirschsprung disease, susceptibility to, 1	Pathogenic/Likely pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 189768596.	NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) GRCh37: Chr10:43610046 GRCh38: Chr10:43114598	RET		Multiple endocrine neoplasia, type 2	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 23092697.	NM_020975.6(RET):c.1998G>C (p.Lys666Asn) GRCh37: Chr10:43610046 GRCh38: Chr10:43114598	RET	K666N, K412N, K183N, K491N, K570N, K623N, K336N, K424N, K271N, K327N, K231N, K324N, K367N, K520N, K534N	Pheochromocytoma, Multiple endocrine neoplasia, type 2b, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a	Pathogenic/Likely pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2493298.	NM_020975.6(RET):c.1998G>T (p.Lys666Asn) GRCh37: Chr10:43610046 GRCh38: Chr10:43114598	RET	K412N, K324N, K336N, K570N, K183N, K231N, K271N, K367N, K491N, K534N, K623N, K520N, K327N, K424N	not provided, Multiple endocrine neoplasia, type 2, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Hereditary cancer-predisposing syndrome, Hirschsprung disease, susceptibility to, 1, Multiple endocrine neoplasia, type 2a, Familial medullary thyroid carcinoma, Multiple endocrine neoplasia, type 2b, Pheochromocytoma	Pathogenic/Likely pathogenic (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119745899.	NM_020975.6(RET):c.2137-1G>A GRCh37: Chr10:43612031 GRCh38: Chr10:43116583	RET		not provided	Pathogenic (Feb 28, 2019)	criteria provided, single submitter
Select item 38611100.	NM_020975.6(RET):c.2304G>T (p.Glu768Asp) GRCh37: Chr10:43613840 GRCh38: Chr10:43118392	RET	E768D, E514D, E333D, E426D, E469D, E424D, E723D, E725D, E373D, E438D, E636D, E672D, E285D, E429D, E526D, E593D, E622D, E680D	Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 2, MEN2 phenotype: Unclassified, Multiple endocrine neoplasia, type 2a, Multiple endocrine neoplasia, type 2b	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts

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