693144[Gene ID] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 58843	GRCh38/hg38 2p21-16.3(chr2:47206008-47600171)x3	BCYRN1, EPCAM +21 more	Copy number gain	See cases	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 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	MIR559, MSH2 +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 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 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	EPCAM, LOC129933695 +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	LOC129933695, MIR559 +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 216517	NM_002354.2(EPCAM):c.(?_-1)_858+?dup	EPCAM, MIR559	Duplication	Lynch syndrome	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 661723	NC_000002.12:g.(?_47373453)_(47416439_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 639880	NC_000002.12:g.(?_47373453)_(47379979_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525990	NC_000002.12:g.(?_47373457)_(47379975_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525969	NC_000002.12:g.(?_47373457)_(47386619_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455035	Single allele	EPCAM, LOC129933695 +2 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 652969	NC_000002.12:g.(?_47377004)_(47386623_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 646389	NC_000002.12:g.(?_47377004)_(47429951_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525973	NC_000002.12:g.(?_47377008)_(47410378_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455036	NC_000002.12:g.(?_47377008)_(47386619_?)del	EPCAM, MIR559	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic

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Items: 41