"GeneDx"[submitter] AND "EPCAM"[gene] - ClinVar

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Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58843	GRCh38/hg38 2p21-16.3(chr2:47206008-47600171)x3	BCYRN1, EPCAM +21 more	Copy number gain	See cases	GUncertain significance
Select item 1224010	NC_000002.12:g.47369005C>G	EPCAM	Single nucleotide variant	not provided	GBenign
Select item 1217191	NC_000002.12:g.47369061A>G	EPCAM	Single nucleotide variant	not provided	GLikely benign
Select item 336399	NM_002354.2(EPCAM):c.-247G>C	EPCAM	Single nucleotide variant	not provided	GLikely benign
Select item 336406	NM_002354.2(EPCAM):c.-98C>G	EPCAM	Single nucleotide variant	not provided	GLikely benign
Select item 1241098	NM_002354.3(EPCAM):c.-45_-26del	EPCAM	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 127850	NM_002354.3(EPCAM):c.5C>T (p.Ala2Val)	EPCAM (A2V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 973534	NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter)	EPCAM (Q5*)	Single nucleotide variant (nonsense)	Congenital diarrhea 5 with tufting enteropathy +1 more	GPathogenic/Likely pathogenic
Select item 137216	NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys)	EPCAM (T17K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 1191588	NM_002354.3(EPCAM):c.76+46_76+47insCGGGG	EPCAM	Insertion (intron variant)	not provided	GLikely benign
Select item 1225956	NM_002354.3(EPCAM):c.76+135dup	EPCAM	Duplication (intron variant)	not provided	GBenign
Select item 1252451	NM_002354.3(EPCAM):c.77-251A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232455	NM_002354.3(EPCAM):c.77-248A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292822	NM_002354.3(EPCAM):c.77-245A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290175	NM_002354.3(EPCAM):c.77-244A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232715	NM_002354.3(EPCAM):c.77-242A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297434	NM_002354.3(EPCAM):c.77-236A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270771	NM_002354.3(EPCAM):c.77-230_77-229insCAA	EPCAM	Insertion (intron variant)	not provided	GBenign
Select item 1179654	NM_002354.3(EPCAM):c.77-232A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137214	NM_002354.3(EPCAM):c.77-11T>A	EPCAM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 136017	NM_002354.3(EPCAM):c.159A>C (p.Ala53=)	EPCAM	Single nucleotide variant (synonymous variant)	Lynch syndrome 8 +3 more	GBenign/Likely benign
Select item 1219939	NM_002354.3(EPCAM):c.184+57T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194844	NM_002354.3(EPCAM):c.185-88T>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127848	NM_002354.3(EPCAM):c.267G>C (p.Gln89His)	EPCAM (Q89H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 183700	NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)	EPCAM (M115T)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GBenign
Select item 1297204	NM_002354.3(EPCAM):c.425+70T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292827	NM_002354.3(EPCAM):c.425+220A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291888	NM_002354.3(EPCAM):c.426-195A>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213283	NM_002354.3(EPCAM):c.426-177C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294299	NM_002354.3(EPCAM):c.426-132T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258643	NM_002354.3(EPCAM):c.426-20A>G	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +2 more	GBenign
Select item 137215	NM_002354.3(EPCAM):c.491+19A>T	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy +2 more	GBenign/Likely benign
Select item 1270330	NM_002354.3(EPCAM):c.491+132C>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227681	NM_002354.3(EPCAM):c.492-26dup	EPCAM	Duplication (intron variant)	not provided	GBenign
Select item 132761	NM_002354.3(EPCAM):c.492-5T>C	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +3 more	GBenign/Likely benign
Select item 157604	NM_002354.3(EPCAM):c.492-2A>G	EPCAM	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 127849	NM_002354.3(EPCAM):c.493G>A (p.Ala165Thr)	EPCAM (A165T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 12774	NM_002354.3(EPCAM):c.499dup (p.Gln167fs)	EPCAM (Q167fs)	Duplication (frameshift variant)	Congenital diarrhea 5 with tufting enteropathy +1 more	GPathogenic
Select item 132748	NM_002354.3(EPCAM):c.515C>T (p.Thr172Met)	EPCAM (T172M)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +3 more	GBenign
Select item 1228186	NM_002354.3(EPCAM):c.555+62A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283505	NM_002354.3(EPCAM):c.555+162G>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179659	NM_002354.3(EPCAM):c.555+235A>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204129	NM_002354.3(EPCAM):c.555+276C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259711	NM_002354.3(EPCAM):c.556-253C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 157603	NM_002354.3(EPCAM):c.556-14A>G	EPCAM	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1200470	NM_002354.3(EPCAM):c.657+169A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292823	NM_002354.3(EPCAM):c.658-225T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292215	NM_002354.3(EPCAM):c.658-134A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 127851	NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)	EPCAM (I277M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 137213	NM_002354.3(EPCAM):c.858G>A (p.Leu286=)	EPCAM	Single nucleotide variant (synonymous variant)	Lynch syndrome 8 +3 more	GBenign/Likely benign
Select item 1200309	NM_002354.3(EPCAM):c.858+78T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280608	NM_002354.3(EPCAM):c.859-192C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244355	NM_002354.3(EPCAM):c.859-149A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179731	NM_002354.3(EPCAM):c.859-99T>C	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225243	NM_002354.3(EPCAM):c.859-81C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258644	NM_002354.3(EPCAM):c.859-7C>T	EPCAM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 136033	NM_002354.3(EPCAM):c.859-6A>G	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +2 more	GBenign
Select item 1178844	NM_002354.3(EPCAM):c.903+71C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205037	NM_002354.3(EPCAM):c.903+191C>A	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198439	NM_002354.3(EPCAM):c.903+232A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197665	NM_002354.3(EPCAM):c.904-132A>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258645	NM_002354.3(EPCAM):c.904-12T>C	EPCAM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1243508	NM_002354.3(EPCAM):c.*36G>A	EPCAM	Single nucleotide variant	not provided +1 more	GBenign
Select item 1275848	NM_002354.3(EPCAM):c.*118T>C	EPCAM	Single nucleotide variant	not provided +2 more	GBenign
Select item 1275827	NM_002354.3(EPCAM):c.*265A>T	EPCAM	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 3361565	NM_002354.3(EPCAM):c.347G>A (p.Cys116Tyr)	EPCAM (C116Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 182461	NM_002354.2:c.1-45_1-26del	EPCAM	Deletion	Hereditary cancer-predisposing syndrome	GBenign

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Items: 68