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

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685657	GRCh37/hg19 21q21.1(chr21:22512344-22865665)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 2685656	GRCh37/hg19 21q21.1-21.3(chr21:21596314-26986899)x1	MIR155, MRPL39 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1808220	GRCh37/hg19 21q21.1-21.2(chr21:22789290-24987949)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 1807985	GRCh37/hg19 21q21.1(chr21:19472236-22485199)x1	CHODL, NCAM2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1340057	GRCh37/hg19 21q21.1-21.2(chr21:22483884-24243920)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 980225	GRCh37/hg19 21q21.1-21.2(chr21:21315654-24758721)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 980223	GRCh37/hg19 21q21.1(chr21:21547660-22421168)x1	NCAM2	Copy number loss	not provided	GUncertain significance
Select item 979747	GRCh37/hg19 21q21.1(chr21:22206704-22504398)x3	NCAM2	Copy number gain	not provided	GLikely benign
Select item 816150	GRCh37/hg19 21q21.1(chr21:22751212-23009366)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 816149	GRCh37/hg19 21q21.1(chr21:22041946-22396557)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	not provided	GPathogenic
Select item 816142	GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
Select item 564678	GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
Select item 564675	GRCh37/hg19 21q21.1(chr21:19480521-23909274)x3	CHODL, NCAM2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564673	GRCh37/hg19 21q21.1(chr21:21068283-22747570)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564671	GRCh37/hg19 21q21.1(chr21:22162495-23773351)x3	NCAM2	Copy number gain	not provided	GUncertain significance
Select item 564663	GRCh37/hg19 21q21.1(chr21:22589601-23392840)x1	NCAM2	Copy number loss	not provided	GUncertain significance

ClinVar

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Items: 21