ClinVar for Gene (Select 4072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381183	NM_002354.3(EPCAM):c.35T>G (p.Leu12Arg)	EPCAM (L12R)	Single nucleotide variant (missense variant)	Congenital diarrhea 5 with tufting enteropathy	GUncertain significance
Select item 3377746	NM_002354.3(EPCAM):c.610C>T (p.Gln204Ter)	EPCAM (Q204*)	Single nucleotide variant (nonsense)	Congenital diarrhea 5 with tufting enteropathy	GLikely pathogenic
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 3336805	NC_000002.12:g.(47369582_47373462)_(47386896_?)del	EPCAM, MIR559	Deletion	Lynch syndrome 8	GLikely pathogenic
Select item 3336801	NC_000002.12:g.(47369582_47373462)_(47386613_?)del	EPCAM, MIR559	Deletion	Lynch syndrome 8	GLikely pathogenic
Select item 3275855	NM_002354.3(EPCAM):c.339C>A (p.Thr113=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275854	NM_002354.3(EPCAM):c.745A>G (p.Ile249Val)	EPCAM (I249V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275853	NM_002354.3(EPCAM):c.536A>C (p.Lys179Thr)	EPCAM (K179T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275852	NM_002354.3(EPCAM):c.893A>G (p.Glu298Gly)	EPCAM (E298G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275851	NM_002354.3(EPCAM):c.251C>G (p.Pro84Arg)	EPCAM (P84R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275850	NM_002354.3(EPCAM):c.855G>A (p.Val285=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275849	NM_002354.3(EPCAM):c.632A>T (p.Asp211Val)	EPCAM (D211V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275846	NM_002354.3(EPCAM):c.292G>A (p.Asp98Asn)	EPCAM (D98N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275845	NM_002354.3(EPCAM):c.695A>T (p.Asp232Val)	EPCAM (D232V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275844	NM_002354.3(EPCAM):c.711G>A (p.Gly237=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275843	NM_002354.3(EPCAM):c.592A>T (p.Asn198Tyr)	EPCAM (N198Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275842	NM_002354.3(EPCAM):c.402C>T (p.Thr134=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275841	NM_002354.3(EPCAM):c.925C>T (p.His309Tyr)	EPCAM (H309Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275840	NM_002354.3(EPCAM):c.100C>G (p.Leu34Val)	EPCAM (L34V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275839	NM_002354.3(EPCAM):c.709G>A (p.Gly237Arg)	EPCAM (G237R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275838	NM_002354.3(EPCAM):c.911A>C (p.Glu304Ala)	EPCAM (E304A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275837	NM_002354.3(EPCAM):c.857T>C (p.Leu286Pro)	EPCAM (L286P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275835	NM_002354.3(EPCAM):c.717A>C (p.Gln239His)	EPCAM (Q239H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275834	NM_002354.3(EPCAM):c.43G>C (p.Ala15Pro)	EPCAM (A15P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275833	NM_002354.3(EPCAM):c.915G>C (p.Met305Ile)	EPCAM (M305I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275832	NM_002354.3(EPCAM):c.494C>T (p.Ala165Val)	EPCAM (A165V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275831	NM_002354.3(EPCAM):c.266A>G (p.Gln89Arg)	EPCAM (Q89R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275830	NM_002354.3(EPCAM):c.22G>A (p.Ala8Thr)	EPCAM (A8T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275829	NM_002354.3(EPCAM):c.216A>C (p.Glu72Asp)	EPCAM (E72D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275828	NM_002354.3(EPCAM):c.801T>G (p.Gly267=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275827	NM_002354.3(EPCAM):c.44C>T (p.Ala15Val)	EPCAM (A15V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275825	NM_002354.3(EPCAM):c.31C>G (p.Leu11Val)	EPCAM (L11V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275824	NM_002354.3(EPCAM):c.238A>G (p.Arg80Gly)	EPCAM (R80G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275823	NM_002354.3(EPCAM):c.293A>C (p.Asp98Ala)	EPCAM (D98A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275822	NM_002354.3(EPCAM):c.824T>C (p.Val275Ala)	EPCAM (V275A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275821	NM_002354.3(EPCAM):c.732T>C (p.Pro244=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275820	NM_002354.3(EPCAM):c.608C>G (p.Thr203Ser)	EPCAM (T203S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275818	NM_002354.3(EPCAM):c.583C>T (p.Leu195=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275817	NM_002354.3(EPCAM):c.188C>G (p.Ala63Gly)	EPCAM (A63G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275816	NM_002354.3(EPCAM):c.199T>C (p.Leu67=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275815	NM_002354.3(EPCAM):c.176G>A (p.Cys59Tyr)	EPCAM (C59Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275814	NM_002354.3(EPCAM):c.49A>G (p.Thr17Ala)	EPCAM (T17A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3275812	NM_002354.3(EPCAM):c.537A>G (p.Lys179=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3275811	NM_002354.3(EPCAM):c.590A>C (p.Gln197Pro)	EPCAM (Q197P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256518	NM_002354.3(EPCAM):c.903+49T>A	EPCAM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251387	NC_000002.11:g.(47607109_47612304)_(47614160_?)dup	EPCAM	Duplication	not specified	GLikely benign
Select item 3247506	NC_000002.11:g.(?_47596709)_(47601824_?)del	EPCAM	Deletion	not provided	GLikely pathogenic
Select item 3247505	NC_000002.11:g.(?_47612285)_(47613752_?)dup	EPCAM	Duplication	not provided	GUncertain significance
Select item 3247504	NC_000002.11:g.(?_47604143)_(47607118_?)dup	EPCAM	Duplication	not provided	GLikely pathogenic
Select item 3247503	NC_000002.11:g.(?_47600582)_(47643588_?)dup	EPCAM, MSH2	Duplication	not provided	GUncertain significance
Select item 3247501	NC_000002.11:g.(?_47612285)_(47613752_?)del	EPCAM	Deletion	not provided	GPathogenic
Select item 3247500	NC_000002.11:g.(?_47602363)_(47710120_?)del	EPCAM, MSH2	Deletion	not provided	GPathogenic
Select item 3247499	NC_000002.11:g.(?_47600592)_(47602448_?)del	EPCAM	Deletion	not provided	GPathogenic
Select item 3247498	NC_000002.11:g.(?_47612295)_(47612359_?)del	EPCAM	Deletion	not provided	GUncertain significance
Select item 3247497	NC_000002.11:g.(?_47604133)_(47604236_?)del	EPCAM	Deletion	not provided	GPathogenic
Select item 3247496	NC_000002.11:g.(?_47596288)_(47596740_?)del	EPCAM	Deletion	not provided	GPathogenic
Select item 3247495	NC_000002.11:g.(?_47596288)_(47643588_?)del	EPCAM, MSH2	Deletion	not provided	GPathogenic
Select item 3247117	NC_000002.11:g.(?_47540053)_(47656931_?)del	BCYRN1, EPCAM +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247106	NC_000002.11:g.(?_47596645)_(47708020_?)dup	EPCAM, MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247105	NC_000002.11:g.(?_47596645)_(47630551_?)dup	EPCAM, MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247088	NC_000002.11:g.(?_47596288)_(47672816_?)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3222150	NM_002354.3(EPCAM):c.926A>G (p.His309Arg)	EPCAM (H309R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222149	NM_002354.3(EPCAM):c.8C>T (p.Pro3Leu)	EPCAM (P3L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222148	NM_002354.3(EPCAM):c.89A>G (p.Glu30Gly)	EPCAM (E30G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222147	NM_002354.3(EPCAM):c.88G>A (p.Glu30Lys)	EPCAM (E30K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222146	NM_002354.3(EPCAM):c.884C>G (p.Ala295Gly)	EPCAM (A295G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222145	NM_002354.3(EPCAM):c.879A>T (p.Arg293Ser)	EPCAM (R293S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222144	NM_002354.3(EPCAM):c.875A>G (p.Lys292Arg)	EPCAM (K292R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222143	NM_002354.3(EPCAM):c.870A>G (p.Arg290=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222142	NM_002354.3(EPCAM):c.820G>A (p.Val274Ile)	EPCAM (V274I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222141	NM_002354.3(EPCAM):c.813T>G (p.Val271=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222140	NM_002354.3(EPCAM):c.809C>T (p.Ala270Val)	EPCAM (A270V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222139	NM_002354.3(EPCAM):c.792A>G (p.Leu264=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222138	NM_002354.3(EPCAM):c.779C>T (p.Ser260Leu)	EPCAM (S260L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222137	NM_002354.3(EPCAM):c.773A>G (p.Glu258Gly)	EPCAM (E258G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222136	NM_002354.3(EPCAM):c.767C>T (p.Ala256Val)	EPCAM (A256V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222135	NM_002354.3(EPCAM):c.736C>G (p.Gln246Glu)	EPCAM (Q246E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222134	NM_002354.3(EPCAM):c.704T>G (p.Val235Gly)	EPCAM (V235G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222133	NM_002354.3(EPCAM):c.701C>T (p.Thr234Ile)	EPCAM (T234I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222132	NM_002354.3(EPCAM):c.6G>C (p.Ala2=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222131	NM_002354.3(EPCAM):c.675G>T (p.Leu225Phe)	EPCAM (L225F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222130	NM_002354.3(EPCAM):c.672C>G (p.Ser224=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222129	NM_002354.3(EPCAM):c.667G>A (p.Glu223Lys)	EPCAM (E223K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222128	NM_002354.3(EPCAM):c.653A>C (p.Lys218Thr)	EPCAM (K218T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222127	NM_002354.3(EPCAM):c.648T>G (p.Phe216Leu)	EPCAM (F216L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222126	NM_002354.3(EPCAM):c.644A>C (p.Tyr215Ser)	EPCAM (Y215S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222125	NM_002354.3(EPCAM):c.567T>A (p.Asn189Lys)	EPCAM (N189K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222123	NM_002354.3(EPCAM):c.565A>G (p.Asn189Asp)	EPCAM (N189D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222122	NM_002354.3(EPCAM):c.550A>G (p.Ile184Val)	EPCAM (I184V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222121	NM_002354.3(EPCAM):c.533C>G (p.Pro178Arg)	EPCAM (P178R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222120	NM_002354.3(EPCAM):c.52G>C (p.Ala18Pro)	EPCAM (A18P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222119	NM_002354.3(EPCAM):c.52G>A (p.Ala18Thr)	EPCAM (A18T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222118	NM_002354.3(EPCAM):c.525A>G (p.Gln175=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222117	NM_002354.3(EPCAM):c.523C>G (p.Gln175Glu)	EPCAM (Q175E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222116	NM_002354.3(EPCAM):c.46G>A (p.Ala16Thr)	EPCAM (A16T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222115	NM_002354.3(EPCAM):c.467C>A (p.Pro156His)	EPCAM (P156H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222114	NM_002354.3(EPCAM):c.461A>G (p.Glu154Gly)	EPCAM (E154G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222113	NM_002354.3(EPCAM):c.438T>G (p.Ile146Met)	EPCAM (I146M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222111	NM_002354.3(EPCAM):c.413G>T (p.Arg138Leu)	EPCAM (R138L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222110	NM_002354.3(EPCAM):c.407C>G (p.Ser136Cys)	EPCAM (S136C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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