ClinVar for Gene (Select 4072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065583	NM_002354.3(EPCAM):c.492-8C>T	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy	GLikely benign
Select item 3057586	NM_002354.3(EPCAM):c.556-20T>C	EPCAM	Single nucleotide variant (intron variant)	EPCAM-related condition	GLikely benign
Select item 3055602	NM_002354.3(EPCAM):c.*128A>G	EPCAM	Single nucleotide variant (3 prime UTR variant)	EPCAM-related condition	GLikely benign
Select item 3053821	NM_002354.3(EPCAM):c.369G>A (p.Gly123=)	EPCAM	Single nucleotide variant (synonymous variant)	EPCAM-related condition	GLikely benign
Select item 3047081	NM_002354.3(EPCAM):c.894G>A (p.Glu298=)	EPCAM	Single nucleotide variant (synonymous variant)	EPCAM-related condition	GLikely benign
Select item 3044716	NM_002354.3(EPCAM):c.175T>A (p.Cys59Ser)	EPCAM (C59S)	Single nucleotide variant (missense variant)	EPCAM-related condition	GUncertain significance
Select item 2689133	NM_002354.3(EPCAM):c.73G>T (p.Glu25Ter)	EPCAM (E25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2650878	NM_002354.3(EPCAM):c.888G>A (p.Lys296=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632983	NM_002354.3(EPCAM):c.184+6T>G	EPCAM	Single nucleotide variant (intron variant)	EPCAM-related condition	GUncertain significance
Select item 2632195	NM_002354.3(EPCAM):c.388G>A (p.Asp130Asn)	EPCAM (D130N)	Single nucleotide variant (missense variant)	EPCAM-related condition	GUncertain significance
Select item 2627067	NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)	EPCAM (L176P)	Single nucleotide variant (missense variant)	Lynch syndrome 8	GUncertain significance
Select item 2624803	NM_002354.3(EPCAM):c.379A>C (p.Thr127Pro)	EPCAM (T127P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624802	NM_002354.3(EPCAM):c.19C>G (p.Leu7Val)	EPCAM (L7V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624801	NM_002354.3(EPCAM):c.473A>G (p.Asp158Gly)	EPCAM (D158G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624800	NM_002354.3(EPCAM):c.177C>G (p.Cys59Trp)	EPCAM (C59W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624799	NM_002354.3(EPCAM):c.671C>T (p.Ser224Phe)	EPCAM (S224F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624798	NM_002354.3(EPCAM):c.675G>A (p.Leu225=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2602107	NM_002354.3(EPCAM):c.761A>G (p.Glu254Gly)	EPCAM (E254G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2602087	NM_002354.3(EPCAM):c.802G>A (p.Val268Ile)	EPCAM (V268I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2602077	NM_002354.3(EPCAM):c.568G>A (p.Val190Ile)	EPCAM (V190I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2602066	NM_002354.3(EPCAM):c.391A>G (p.Thr131Ala)	EPCAM (T131A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2602056	NM_002354.3(EPCAM):c.915G>A (p.Met305Ile)	EPCAM (M305I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586740	NM_002354.3(EPCAM):c.75A>C (p.Glu25Asp)	EPCAM (E25D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586739	NM_002354.3(EPCAM):c.836T>C (p.Val279Ala)	EPCAM (V279A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586738	NM_002354.3(EPCAM):c.309G>C (p.Gly103=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586737	NM_002354.3(EPCAM):c.495A>G (p.Ala165=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586736	NM_002354.3(EPCAM):c.934C>G (p.Leu312Val)	EPCAM (L312V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586735	NM_002354.3(EPCAM):c.216A>G (p.Glu72=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586734	NM_002354.3(EPCAM):c.71A>C (p.Gln24Pro)	EPCAM (Q24P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586733	NM_002354.3(EPCAM):c.904A>C (p.Ile302Leu)	EPCAM (I302L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586731	NM_002354.3(EPCAM):c.658G>T (p.Val220Phe)	EPCAM (V220F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586730	NM_002354.3(EPCAM):c.935T>A (p.Leu312His)	EPCAM (L312H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586729	NM_002354.3(EPCAM):c.67G>A (p.Ala23Thr)	EPCAM (A23T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586728	NM_002354.3(EPCAM):c.545C>G (p.Thr182Arg)	EPCAM (T182R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586727	NM_002354.3(EPCAM):c.768A>G (p.Ala256=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2585459	NM_002354.3(EPCAM):c.509_511del (p.Ile170del)	EPCAM (I170del)	Deletion (inframe_deletion)	Congenital diarrhea 5 with tufting enteropathy	GUncertain significance
Select item 2581342	NC_000002.11:g.(47607109_47612304)_(47614168_?)dup	EPCAM	Duplication	not specified	GUncertain significance
Select item 2581277	NC_000002.11:g.(?_47596286)_(47630542_47635539)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 2580316	GRCh37/hg19 2p21(chr2:47612218-47693997)x1	EPCAM, MSH2	Copy number loss	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 2575509	NM_002354.3(EPCAM):c.904-30A>T	EPCAM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2575141	NM_002354.3(EPCAM):c.*145A>G	EPCAM	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2573490	NC_000002.11:g.(?_47596286)_(47614168_?)del	EPCAM	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 2573489	NC_000002.11:g.(?_47596286)_(47657081_47672686)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 2573488	NC_000002.11:g.(?_47596286)_(47710368_?)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colon cancer	GPathogenic
Select item 2571077	NM_002354.3(EPCAM):c.856C>T (p.Leu286=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571076	NM_002354.3(EPCAM):c.658-3C>G	EPCAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2566638	NM_002354.3(EPCAM):c.441A>G (p.Glu147=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2566637	NM_002354.3(EPCAM):c.910G>A (p.Glu304Lys)	EPCAM (E304K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566636	NM_002354.3(EPCAM):c.80G>A (p.Cys27Tyr)	EPCAM (C27Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566635	NM_002354.3(EPCAM):c.904A>G (p.Ile302Val)	EPCAM (I302V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566634	NM_002354.3(EPCAM):c.273T>A (p.Asn91Lys)	EPCAM (N91K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566633	NM_002354.3(EPCAM):c.671C>G (p.Ser224Cys)	EPCAM (S224C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566632	NM_002354.3(EPCAM):c.896A>C (p.Lys299Thr)	EPCAM (K299T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566631	NM_002354.3(EPCAM):c.280C>T (p.Leu94Phe)	EPCAM (L94F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566629	NM_002354.3(EPCAM):c.79T>C (p.Cys27Arg)	EPCAM (C27R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566628	NM_002354.3(EPCAM):c.692T>G (p.Met231Arg)	EPCAM (M231R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566627	NM_002354.3(EPCAM):c.50C>G (p.Thr17Arg)	EPCAM (T17R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566626	NM_002354.3(EPCAM):c.136T>A (p.Cys46Ser)	EPCAM (C46S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566625	NM_002354.3(EPCAM):c.931G>C (p.Glu311Gln)	EPCAM (E311Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566624	NM_002354.3(EPCAM):c.639T>G (p.Ala213=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2562280	NM_002354.3(EPCAM):c.730C>T (p.Pro244Ser)	EPCAM (P244S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2562279	NM_002354.3(EPCAM):c.370G>A (p.Val124Ile)	EPCAM (V124I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2562278	NM_002354.3(EPCAM):c.637G>A (p.Ala213Thr)	EPCAM (A213T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2562277	NM_002354.3(EPCAM):c.377G>A (p.Arg126Lys)	EPCAM (R126K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2562276	NM_002354.3(EPCAM):c.878G>T (p.Arg293Ile)	EPCAM (R293I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2561074	NM_002354.3(EPCAM):c.290C>T (p.Pro97Leu)	EPCAM (P97L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2561073	NM_002354.3(EPCAM):c.93C>T (p.Asn31=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2561072	NM_002354.3(EPCAM):c.846A>G (p.Gly282=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2561071	NM_002354.3(EPCAM):c.321C>T (p.Ala107=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2561070	NM_002354.3(EPCAM):c.235G>A (p.Gly79Arg)	EPCAM (G79R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2561069	NM_002354.3(EPCAM):c.45G>A (p.Ala15=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2561068	NM_002354.3(EPCAM):c.21C>G (p.Leu7=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2561067	NM_002354.3(EPCAM):c.336C>T (p.Gly112=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2503487	GRCh37/hg19 2p21(chr2:47511660-47641537)x1	BCYRN1, EPCAM +1 more	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 2503483	GRCh37/hg19 2p21(chr2:47547722-47641537)x1	BCYRN1, EPCAM +1 more	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 2477729	NM_002354.3(EPCAM):c.64G>T (p.Ala22Ser)	EPCAM (A22S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477719	NM_002354.3(EPCAM):c.7C>A (p.Pro3Thr)	EPCAM (P3T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477709	NM_002354.3(EPCAM):c.451A>G (p.Lys151Glu)	EPCAM (K151E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477698	NM_002354.3(EPCAM):c.800G>A (p.Gly267Asp)	EPCAM (G267D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477687	NM_002354.3(EPCAM):c.817G>A (p.Val273Met)	EPCAM (V273M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477676	NM_002354.3(EPCAM):c.62C>T (p.Ala21Val)	EPCAM (A21V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477666	NM_002354.3(EPCAM):c.173T>G (p.Ile58Ser)	EPCAM (I58S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477646	NM_002354.3(EPCAM):c.556T>C (p.Tyr186His)	EPCAM (Y186H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477635	NM_002354.3(EPCAM):c.24G>C (p.Ala8=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2477606	NM_002354.3(EPCAM):c.90A>C (p.Glu30Asp)	EPCAM (E30D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477595	NM_002354.3(EPCAM):c.172A>G (p.Ile58Val)	EPCAM (I58V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2477585	NM_002354.3(EPCAM):c.933A>G (p.Glu311=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452164	NM_002354.3(EPCAM):c.294C>T (p.Asp98=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452163	NM_002354.3(EPCAM):c.380C>G (p.Thr127Arg)	EPCAM (T127R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452162	NM_002354.3(EPCAM):c.919G>C (p.Glu307Gln)	EPCAM (E307Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452161	NM_002354.3(EPCAM):c.24G>T (p.Ala8=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452160	NM_002354.3(EPCAM):c.665G>A (p.Gly222Asp)	EPCAM (G222D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452159	NM_002354.3(EPCAM):c.700A>G (p.Thr234Ala)	EPCAM (T234A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452158	NM_002354.3(EPCAM):c.71A>G (p.Gln24Arg)	EPCAM (Q24R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452157	NM_002354.3(EPCAM):c.610C>G (p.Gln204Glu)	EPCAM (Q204E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452156	NM_002354.3(EPCAM):c.529G>C (p.Asp177His)	EPCAM (D177H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452155	NM_002354.3(EPCAM):c.707A>T (p.Asn236Ile)	EPCAM (N236I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452154	NM_002354.3(EPCAM):c.606A>C (p.Lys202Asn)	EPCAM (K202N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452153	NM_002354.3(EPCAM):c.625A>G (p.Ile209Val)	EPCAM (I209V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452152	NM_002354.3(EPCAM):c.262C>T (p.Leu88Phe)	EPCAM (L88F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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