ClinVar for MedGen (Select 412966) - ClinVar

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Items: 37

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24448631.	NM_002354.3(EPCAM):c.849T>G (p.Ile283Met) GRCh37: Chr2:47607099 GRCh38: Chr2:47379960	EPCAM	I283M	Hereditary cancer-predisposing syndrome, Lynch syndrome 8	Uncertain significance (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24318982.	NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln) GRCh37: Chr2:47601175 GRCh38: Chr2:47374036	EPCAM	R138Q	Lynch syndrome 8	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18015033.	NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys) GRCh37: Chr2:47600976 GRCh38: Chr2:47373837	EPCAM	E72K	Lynch syndrome 8	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 16915284.	NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr) GRCh37: Chr2:47596708 GRCh38: Chr2:47369569	EPCAM	A22T	Hereditary cancer-predisposing syndrome, Lynch syndrome 8	Uncertain significance (Feb 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16915205.	NM_002354.3(EPCAM):c.344T>A (p.Met115Lys) GRCh37: Chr2:47601106 GRCh38: Chr2:47373967	EPCAM	M115K	Lynch syndrome 8	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 13202826.	NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del) GRCh37: Chr2:47607098-47607100 GRCh38: Chr2:47379959-47379961	EPCAM	V285del	Lynch syndrome 8	Uncertain significance (Sep 9, 2021)	criteria provided, single submitter
Select item 10499387.	NM_002354.3(EPCAM):c.-2_77del (p.Met1fs) GRCh37: Chr2:47596642-47596720 GRCh38: Chr2:47369503-47369581	EPCAM	M1fs	Lynch syndrome 8	Uncertain significance	no assertion criteria provided
Select item 9730668.	NM_002354.3(EPCAM):c.-1C>G GRCh37: Chr2:47596644 GRCh38: Chr2:47369505	EPCAM		Lynch syndrome 8	not provided	no assertion provided
Select item 6327959.	NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu) GRCh37: Chr2:47596655 GRCh38: Chr2:47369516	EPCAM	P4L	not specified, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8	Uncertain significance (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25864510.	NM_002354.3(EPCAM):c.904-12T>C GRCh37: Chr2:47613699 GRCh38: Chr2:47386560	EPCAM		not specified, not provided, Lynch syndrome 8	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25864411.	NM_002354.3(EPCAM):c.859-7C>T GRCh37: Chr2:47612298 GRCh38: Chr2:47385159	EPCAM		not provided, Hereditary nonpolyposis colorectal neoplasms, not specified, Lynch syndrome 8	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25864312.	NM_002354.3(EPCAM):c.426-20A>G GRCh37: Chr2:47602353 GRCh38: Chr2:47375214	EPCAM		not specified, not provided, Lynch syndrome 8	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23913613.	NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn) GRCh37: Chr2:47606152 GRCh38: Chr2:47379013	EPCAM	D206N	Lynch syndrome 8, Congenital diarrhea 5 with tufting enteropathy, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23912414.	NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu) GRCh37: Chr2:47600704 GRCh38: Chr2:47373565	EPCAM	S60L	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 8, Congenital diarrhea 5 with tufting enteropathy, Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23912315.	NM_002354.3(EPCAM):c.165T>C (p.Asn55=) GRCh37: Chr2:47600690 GRCh38: Chr2:47373551	EPCAM		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 8	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23911916.	NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys) GRCh37: Chr2:47600636 GRCh38: Chr2:47373497	EPCAM	N37K	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 21581317.	NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly) GRCh37: Chr2:47601066 GRCh38: Chr2:47373927	EPCAM	S102G	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Lynch syndrome 8	Conflicting interpretations of pathogenicity (Jul 7, 2023)	criteria provided, conflicting interpretations
Select item 21550018.	NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr) GRCh37: Chr2:47601106-47601107 GRCh38: Chr2:47373967-47373968	EPCAM	M115T	Hereditary nonpolyposis colorectal neoplasms, not provided, not specified, Lynch syndrome 8	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21549919.	NM_002354.3(EPCAM):c.135A>G (p.Gln45=) GRCh37: Chr2:47600660 GRCh38: Chr2:47373521	EPCAM		Hereditary cancer-predisposing syndrome, not specified, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 8	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18825520.	NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) GRCh37: Chr2:47600618 GRCh38: Chr2:47373479	EPCAM	N31K	Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 8	Likely benign (Jan 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18810621.	NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) GRCh37: Chr2:47596694 GRCh38: Chr2:47369555	EPCAM	T17M	Lynch syndrome 8, not specified, Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18370022.	NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) GRCh37: Chr2:47601106 GRCh38: Chr2:47373967	EPCAM	M115T	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 8, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 1	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 15760323.	NM_002354.3(EPCAM):c.556-14A>G GRCh37: Chr2:47606078 GRCh38: Chr2:47378939	EPCAM		Hereditary nonpolyposis colorectal neoplasms, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8	Conflicting interpretations of pathogenicity (Aug 2, 2023)	criteria provided, conflicting interpretations
Select item 13721624.	NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys) GRCh37: Chr2:47596694 GRCh38: Chr2:47369555	EPCAM	T17K	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 8	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13721525.	NM_002354.3(EPCAM):c.491+19A>T GRCh37: Chr2:47602457 GRCh38: Chr2:47375318	EPCAM		Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, not specified	Benign/Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13721326.	NM_002354.3(EPCAM):c.858G>A (p.Leu286=) GRCh37: Chr2:47607108 GRCh38: Chr2:47379969	EPCAM		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 8	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13603327.	NM_002354.3(EPCAM):c.859-6A>G GRCh37: Chr2:47612299 GRCh38: Chr2:47385160	EPCAM		Hereditary nonpolyposis colorectal neoplasms, not specified, Lynch syndrome 8	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13602728.	NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) GRCh37: Chr2:47606113 GRCh38: Chr2:47378974	EPCAM	I193V	Hereditary nonpolyposis colorectal neoplasms, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, not specified, not provided, Lynch syndrome 8	Uncertain significance (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13602629.	NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser) GRCh37: Chr2:47606110 GRCh38: Chr2:47378971	EPCAM	T192S	Hereditary nonpolyposis colorectal neoplasms, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13602230.	NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) GRCh37: Chr2:47602413 GRCh38: Chr2:47375274	EPCAM	P156S	Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, Hereditary cancer-predisposing syndrome	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13602131.	NM_002354.3(EPCAM):c.342C>T (p.Ser114=) GRCh37: Chr2:47601104 GRCh38: Chr2:47373965	EPCAM		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, Lynch syndrome 8	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13601832.	NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) GRCh37: Chr2:47600994 GRCh38: Chr2:47373855	EPCAM	L78V	Hereditary nonpolyposis colorectal neoplasms, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, not provided, Lynch syndrome 8	Uncertain significance (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13601733.	NM_002354.3(EPCAM):c.159A>C (p.Ala53=) GRCh37: Chr2:47600684 GRCh38: Chr2:47373545	EPCAM		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 8	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13276134.	NM_002354.3(EPCAM):c.492-5T>C GRCh37: Chr2:47604148 GRCh38: Chr2:47377009	EPCAM		Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 8	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13274835.	NM_002354.3(EPCAM):c.515C>T (p.Thr172Met) GRCh37: Chr2:47604176 GRCh38: Chr2:47377037	EPCAM	T172M	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified, not provided, Lynch syndrome 8	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1277636.	NR_030286.1(MIR559):n.278_23134del GRCh38: Chr2:47377952-47400851	EPCAM		Lynch syndrome 8	Pathogenic (Jan 1, 2009)	no assertion criteria provided
Select item 1277537.	NM_002354.2(EPCAM):c.859-1462_*1999del GRCh37: Chr2:47610837-47615745 GRCh38: Chr2:47383698-47388606	EPCAM		Lynch syndrome 8	Pathogenic (Jan 1, 2009)	no assertion criteria provided

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Items: 37