4072[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
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 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 619019	NC_000002.12:g.47142010_47142443dup	EPCAM, STPG4	Duplication	Lynch syndrome	GLikely benign
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 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 417531	NC_000002.11:g.(?_47596287)_(47614167_?)dup	EPCAM, MIR559	Duplication	Lynch syndrome	GUncertain significance
Select item 417530	NC_000002.12:g.(?_47369148)_(47387028_?)del	EPCAM, MIR559	Deletion	Lynch syndrome	GPathogenic
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 665649	NC_000002.12:g.(?_47369496)_(47416439_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 662277	NC_000002.12:g.(?_47369496)_(47482959_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 656825	NC_000002.12:g.(?_47369496)_(47429951_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 656301	NC_000002.12:g.(?_47369496)_(47386623_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 654100	NC_000002.11:g.(?_47596635)_(48034009_?)dup	EPCAM, KCNK12 +19 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 652374	NC_000002.12:g.(?_47369496)_(47442436_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 651820	NC_000002.11:g.(?_47596635)_(47613762_?)dup	EPCAM, MIR559	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 647963	NC_000002.12:g.(?_47369496)_(47426138_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 643708	NC_000002.12:g.(?_47369496)_(47471072_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 642060	NC_000002.11:g.(?_47596635)_(47596730_?)dup	EPCAM	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 641555	NC_000002.12:g.(?_47369496)_(47410382_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 639380	NC_000002.11:g.(?_47596635)_(47607118_?)dup	EPCAM, MIR559	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 584342	NC_000002.12:g.(?_47369496)_(47445667_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 584018	NC_000002.11:g.(?_47596635)_(47630551_?)dup	EPCAM, LOC129933695 +2 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 583722	NC_000002.11:g.(?_47596635)_(47710098_?)dup	EPCAM, LOC129933695 +2 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 583591	NC_000002.12:g.(?_47369500)_(47429947_?)del	LOC129933695, MIR559 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525994	NC_000002.12:g.(?_47369500)_(47379975_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525960	NC_000002.11:g.(?_47596639)_(47613758_?)dup	EPCAM, MIR559	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 455033	NC_000002.12:g.(?_47369500)_(47445663_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455032	NC_000002.12:g.(?_47369500)_(47416435_?)del	EPCAM, LOC129933695 +2 more	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 216517	NM_002354.2(EPCAM):c.(?_-1)_858+?dup	EPCAM, MIR559	Duplication	Lynch syndrome	GUncertain significance
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 +2 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 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 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)	not provided +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 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 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)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
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 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)	Hereditary cancer-predisposing syndrome	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

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