"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPCAM"[ge - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801655	NM_002354.3(EPCAM):c.1A>G (p.Met1Val)	EPCAM (M1V)	Single nucleotide variant (missense variant +1 more)	EPCAM-related disorder	GLikely pathogenic
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 239138	NM_002354.3(EPCAM):c.6G>T (p.Ala2=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 137216	NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys)	EPCAM (T17K)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +3 more	GBenign
Select item 560811	NM_002354.3(EPCAM):c.53_73del (p.Ala18_Gln24del)	EPCAM	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 215817	NM_002354.3(EPCAM):c.76+6G>T	EPCAM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 137214	NM_002354.3(EPCAM):c.77-11T>A	EPCAM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1773743	NM_002354.3(EPCAM):c.103G>A (p.Ala35Thr)	EPCAM (A35T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 220544	NM_002354.3(EPCAM):c.106G>A (p.Val36Ile)	EPCAM (V36I)	Single nucleotide variant (missense variant)	EPCAM-related disorder +1 more	GBenign/Likely benign
Select item 1788681	NM_002354.3(EPCAM):c.108A>C (p.Val36=)	EPCAM	Single nucleotide variant (synonymous variant)	EPCAM-related disorder +1 more	GLikely benign
Select item 215499	NM_002354.3(EPCAM):c.135A>G (p.Gln45=)	EPCAM	Single nucleotide variant (synonymous variant)	Lynch syndrome 8 +3 more	GBenign/Likely benign
Select item 136016	NM_002354.3(EPCAM):c.147T>C (p.Thr49=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136017	NM_002354.3(EPCAM):c.159A>C (p.Ala53=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 215811	NM_002354.3(EPCAM):c.171C>A (p.Val57=)	EPCAM	Single nucleotide variant (synonymous variant)	EPCAM-related disorder +2 more	GLikely benign
Select item 3044716	NM_002354.3(EPCAM):c.175T>A (p.Cys59Ser)	EPCAM (C59S)	Single nucleotide variant (missense variant)	EPCAM-related disorder	GUncertain significance
Select item 560807	NM_002354.3(EPCAM):c.184+1G>A	EPCAM	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2632983	NM_002354.3(EPCAM):c.184+6T>G	EPCAM	Single nucleotide variant (intron variant)	EPCAM-related disorder	GUncertain significance
Select item 560808	NM_002354.3(EPCAM):c.185-3C>T	EPCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136018	NM_002354.3(EPCAM):c.232C>G (p.Leu78Val)	EPCAM (L78V)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +2 more	GUncertain significance
Select item 127848	NM_002354.3(EPCAM):c.267G>C (p.Gln89His)	EPCAM (Q89H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136019	NM_002354.3(EPCAM):c.269A>G (p.Asn90Ser)	EPCAM (N90S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 220795	NM_002354.3(EPCAM):c.297C>T (p.Cys99=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 183700	NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)	EPCAM (M115T)	Single nucleotide variant (missense variant)	Congenital diarrhea 5 with tufting enteropathy +5 more	GBenign
Select item 560809	NM_002354.3(EPCAM):c.345G>A (p.Met115Ile)	EPCAM (M115I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 220834	NM_002354.3(EPCAM):c.360C>T (p.Asn120=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 3053821	NM_002354.3(EPCAM):c.369G>A (p.Gly123=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2632195	NM_002354.3(EPCAM):c.388G>A (p.Asp130Asn)	EPCAM (D130N)	Single nucleotide variant (missense variant)	EPCAM-related disorder	GUncertain significance
Select item 216557	NM_002354.3(EPCAM):c.390C>G (p.Asp130Glu)	EPCAM (D130E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 560810	NM_002354.3(EPCAM):c.403T>G (p.Cys135Gly)	EPCAM (C135G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431898	NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)	EPCAM (R138Q)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +1 more	GUncertain significance
Select item 258643	NM_002354.3(EPCAM):c.426-20A>G	EPCAM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 215501	NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)	EPCAM (R153T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 136023	NM_002354.3(EPCAM):c.487C>T (p.Arg163Trp)	EPCAM (R163W)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
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 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 132748	NM_002354.3(EPCAM):c.515C>T (p.Thr172Met)	EPCAM (T172M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 215816	NM_002354.3(EPCAM):c.516G>A (p.Thr172=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 560812	NM_002354.3(EPCAM):c.556-19_556-17del	EPCAM	Microsatellite (intron variant)	not specified	GBenign
Select item 3057586	NM_002354.3(EPCAM):c.556-20T>C	EPCAM	Single nucleotide variant (intron variant)	EPCAM-related disorder	GLikely benign
Select item 136027	NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)	EPCAM (I193V)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +4 more	GUncertain significance
Select item 560813	NM_002354.3(EPCAM):c.658-9del	EPCAM	Deletion (intron variant)	not provided	GLikely benign
Select item 699699	NM_002354.3(EPCAM):c.828G>A (p.Val276=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 127851	NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)	EPCAM (I277M)	Single nucleotide variant (missense variant)	EPCAM-related disorder +2 more	GBenign/Likely benign
Select item 137213	NM_002354.3(EPCAM):c.858G>A (p.Leu286=)	EPCAM	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 258644	NM_002354.3(EPCAM):c.859-7C>T	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome 8 +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 560814	NM_002354.3(EPCAM):c.859-2A>G	EPCAM	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3047081	NM_002354.3(EPCAM):c.894G>A (p.Glu298=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 560815	NM_002354.3(EPCAM):c.903+15T>C	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 1275848	NM_002354.2(EPCAM):c.*118T>C	EPCAM	Single nucleotide variant	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 3055602	NM_002354.3(EPCAM):c.*128A>G	EPCAM	Single nucleotide variant (3 prime UTR variant)	EPCAM-related disorder	GLikely benign
Select item 336422	NM_002354.2(EPCAM):c.*362A>G	EPCAM	Single nucleotide variant	EPCAM-related disorder +1 more	GLikely benign

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Items: 53