"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685101	GRCh37/hg19 4p16.2(chr4:4905056-5064194)x1	CYTL1, STK32B	Copy number loss	not provided	GUncertain significance
Select item 2685037	GRCh37/hg19 4p16.2(chr4:5384621-5741262)x4	EVC, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809010	GRCh37/hg19 4p16.2(chr4:4955520-5440181)x3	CYTL1, STK32B	Copy number gain	not provided	GUncertain significance
Select item 1808882	GRCh37/hg19 4p16.2(chr4:5384476-5738214)x3	EVC, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1341315	GRCh37/hg19 4p16.2(chr4:5390636-5738263)x3	EVC, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1341274	GRCh37/hg19 4p16.2(chr4:5109395-5270117)x3	STK32B	Copy number gain	not provided	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979453	GRCh37/hg19 4p16.2-16.1(chr4:4896232-6366623)x1	EVC, C4orf50 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979452	GRCh37/hg19 4p16.2(chr4:4955519-5440181)x3	STK32B, CYTL1	Copy number gain	not provided	GUncertain significance
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 562888	GRCh37/hg19 4p16.2(chr4:5384620-5738182)x3	STK32B, EVC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562887	GRCh37/hg19 4p16.2(chr4:5221537-5440181)x3	STK32B	Copy number gain	not provided	GUncertain significance
Select item 562886	GRCh37/hg19 4p16.2(chr4:5133065-5319773)x1	STK32B	Copy number loss	not provided	GUncertain significance
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic

ClinVar

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Items: 24