"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 2685888	GRCh37/hg19 1q42.2(chr1:231917141-231943836)x1	DISC1	Copy number loss	not provided	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809082	GRCh37/hg19 1q42.2(chr1:231639484-232061279)x3	DISC1, DISC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808106	GRCh37/hg19 1q42.2(chr1:231859872-231966836)x1	DISC1, DISC2	Copy number loss	not provided	GUncertain significance
Select item 1808086	GRCh37/hg19 1q42.2(chr1:231949332-233142053)x1	DISC1, DISC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340987	GRCh37/hg19 1q42.2(chr1:231922558-231943836)x1	DISC1	Copy number loss	not provided	GUncertain significance
Select item 1339969	GRCh37/hg19 1q42.2(chr1:231908212-232027911)x1	DISC1, DISC2	Copy number loss	not provided	GUncertain significance
Select item 814180	GRCh37/hg19 1q42.2(chr1:232067056-232204833)x3	DISC1	Copy number gain	not provided	GUncertain significance
Select item 814179	GRCh37/hg19 1q42.2(chr1:231788026-232045506)x3	DISC2, DISC1	Copy number gain	not provided	GUncertain significance
Select item 814178	GRCh37/hg19 1q42.2(chr1:231763761-232045506)x3	DISC2, DISC1	Copy number gain	not provided	GUncertain significance
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 565235	GRCh37/hg19 1q42.2(chr1:231908346-231943836)x1	DISC1	Copy number loss	not provided	GUncertain significance
Select item 565234	GRCh37/hg19 1q42.2(chr1:231828116-231928554)x1	DISC1	Copy number loss	not provided	GUncertain significance
Select item 565233	GRCh37/hg19 1q42.2(chr1:231713096-231816223)x3	DISC1	Copy number gain	not provided	GUncertain significance
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic

ClinVar

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Items: 21