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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685841	GRCh37/hg19 1q43(chr1:240939595-241740770)x3	FH, KMO +1 more	Copy number gain	not provided	GUncertain significance
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 1809288	GRCh37/hg19 1q43(chr1:241094653-242087176)x3	CHML, EXO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807581	GRCh37/hg19 1q43(chr1:240996742-241113327)x1	RGS7	Copy number loss	not provided	GUncertain significance
Select item 1341309	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	not provided	GUncertain significance
Select item 979945	GRCh37/hg19 1q43(chr1:241496526-241885359)x3	RGS7, WDR64 +4 more	Copy number gain	not provided	GLikely benign
Select item 814187	GRCh37/hg19 1q43(chr1:240676485-241289216)x3	GREM2, RGS7	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 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565240	GRCh37/hg19 1q43(chr1:240958055-243698867)x3	AKT3, CEP170 +10 more	Copy number gain	not provided	GLikely pathogenic
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