EPCAM[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 417535	NC_000002.11:g.(?_47596287)_(47604216_?)dup	EPCAM	Duplication	Lynch syndrome	GUncertain significance
Select item 417533	NC_000002.11:g.(?_47596287)_(47596720_?)dup	EPCAM	Duplication	Lynch syndrome	GUncertain significance
Select item 336399	NM_002354.2(EPCAM):c.-247G>C	EPCAM	Single nucleotide variant	not provided	GLikely benign
Select item 336402	NM_002354.3(EPCAM):c.-192G>T	EPCAM	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 336406	NM_002354.2(EPCAM):c.-98C>G	EPCAM	Single nucleotide variant	not provided	GLikely benign
Select item 336407	NM_002354.3(EPCAM):c.-79C>T	EPCAM	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GUncertain significance
Select item 1241098	NM_002354.3(EPCAM):c.-45_-26del	EPCAM	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 642060	NC_000002.11:g.(?_47596635)_(47596730_?)dup	EPCAM	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 584382	NC_000002.12:g.(?_47369496)_(47369591_?)del	EPCAM	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455031	NC_000002.12:g.(?_47369500)_(47369587_?)del	EPCAM	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1049938	NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)	EPCAM (M1fs)	Deletion (frameshift variant +1 more)	Lynch syndrome 8	GUncertain significance
Select item 973066	NM_002354.3(EPCAM):c.-1C>G	EPCAM	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome 8	Gnot provided
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 1801668	NM_002354.3(EPCAM):c.3G>C (p.Met1Ile)	EPCAM (M1I)	Single nucleotide variant (missense variant +1 more)	Gastric cancer	GPathogenic
Select item 127850	NM_002354.3(EPCAM):c.5C>T (p.Ala2Val)	EPCAM (A2V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
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 1756613	NM_002354.3(EPCAM):c.6G>A (p.Ala2=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 239138	NM_002354.3(EPCAM):c.6G>T (p.Ala2=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1801600	NM_002354.3(EPCAM):c.11del (p.Pro4fs)	EPCAM (P4fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 136030	NM_002354.3(EPCAM):c.7C>T (p.Pro3Ser)	EPCAM (P3S)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	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 1768925	NM_002354.3(EPCAM):c.9C>T (p.Pro3=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 705350	NM_002354.3(EPCAM):c.9C>A (p.Pro3=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1747070	NM_002354.3(EPCAM):c.11C>G (p.Pro4Arg)	EPCAM (P4R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 632795	NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)	EPCAM (P4L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3222081	NM_002354.3(EPCAM):c.12G>A (p.Pro4=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1769378	NM_002354.3(EPCAM):c.12G>T (p.Pro4=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely 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 872259	NM_002354.3(EPCAM):c.16G>A (p.Val6Ile)	EPCAM (V6I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1782273	NM_002354.3(EPCAM):c.18C>T (p.Val6=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 239125	NM_002354.3(EPCAM):c.20T>A (p.Leu7His)	EPCAM (L7H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 1787581	NM_002354.3(EPCAM):c.21C>A (p.Leu7=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 239126	NM_002354.3(EPCAM):c.21C>T (p.Leu7=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1790706	NM_002354.3(EPCAM):c.23C>G (p.Ala8Gly)	EPCAM (A8G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222097	NM_002354.3(EPCAM):c.24G>A (p.Ala8=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 2452161	NM_002354.3(EPCAM):c.24G>T (p.Ala8=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1796178	NM_002354.3(EPCAM):c.27C>T (p.Phe9=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1675779	NM_002354.3(EPCAM):c.28G>C (p.Gly10Arg)	EPCAM (G10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 216553	NM_002354.3(EPCAM):c.28G>A (p.Gly10Arg)	EPCAM (G10R)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1727621	NM_002354.3(EPCAM):c.30G>A (p.Gly10=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1732045	NM_002354.3(EPCAM):c.34C>G (p.Leu12Val)	EPCAM (L12V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 216555	NM_002354.3(EPCAM):c.34C>A (p.Leu12Met)	EPCAM (L12M)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1734085	NM_002354.3(EPCAM):c.36G>C (p.Leu12=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1801614	NM_002354.3(EPCAM):c.37del (p.Ala14fs)	EPCAM (A14fs)	Deletion (frameshift variant)	Gastric cancer	GPathogenic
Select item 801668	NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro)	EPCAM (L13P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 219445	NM_002354.3(EPCAM):c.45_65del (p.Thr17_Ala23del)	EPCAM	Deletion (inframe_deletion)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1738644	NM_002354.3(EPCAM):c.41C>T (p.Ala14Val)	EPCAM (A14V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 824768	NM_002354.3(EPCAM):c.42C>G (p.Ala14=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 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 239130	NM_002354.3(EPCAM):c.45GGCGAC[1] (p.16AT[1])	EPCAM	Microsatellite (inframe_deletion)	Hereditary nonpolyposis colorectal neoplasms +1 more	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 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 1743177	NM_002354.3(EPCAM):c.47C>G (p.Ala16Gly)	EPCAM (A16G)	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 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 188106	NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)	EPCAM (T17M)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +2 more	GUncertain significance
Select item 137216	NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys)	EPCAM (T17K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1746023	NM_002354.3(EPCAM):c.51G>A (p.Thr17=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 560811	NM_002354.3(EPCAM):c.53_73del (p.Ala18_Gln24del)	EPCAM	Deletion (inframe_deletion)	not provided	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 1747963	NM_002354.3(EPCAM):c.54G>C (p.Ala18=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1751624	NM_002354.3(EPCAM):c.60T>C (p.Phe20=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1753310	NM_002354.3(EPCAM):c.63C>T (p.Ala21=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 220438	NM_002354.3(EPCAM):c.63C>G (p.Ala21=)	EPCAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1691528	NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr)	EPCAM (A22T)	Single nucleotide variant (missense variant)	Lynch syndrome 8 +1 more	GUncertain significance
Select item 2452151	NM_002354.3(EPCAM):c.65C>T (p.Ala22Val)	EPCAM (A22V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1754965	NM_002354.3(EPCAM):c.66A>C (p.Ala22=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 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 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 3089472	NM_002354.3(EPCAM):c.72G>C (p.Gln24His)	EPCAM (Q24H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1758198	NM_002354.3(EPCAM):c.72G>A (p.Gln24=)	EPCAM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2689133	NM_002354.3(EPCAM):c.73G>T (p.Glu25Ter)	EPCAM (E25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 239139	NM_002354.3(EPCAM):c.74A>T (p.Glu25Val)	EPCAM (E25V)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	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 239140	NM_002354.3(EPCAM):c.76G>A (p.Glu26Lys)	EPCAM (E26K)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 216561	NM_002354.3(EPCAM):c.76+5G>A	EPCAM	Single nucleotide variant (intron variant)	Lynch syndrome	GUncertain significance
Select item 215817	NM_002354.3(EPCAM):c.76+6G>T	EPCAM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 801669	NM_002354.3(EPCAM):c.76+21G>C	EPCAM	Single nucleotide variant (intron variant)	Congenital diarrhea 5 with tufting enteropathy	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 223793	NM_002354.3(EPCAM):c.76+148C>T	EPCAM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223790	NM_002354.3(EPCAM):c.76+501C>T	EPCAM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223792	NM_002354.3(EPCAM):c.76+611C>T	EPCAM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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

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