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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685436	GRCh37/hg19 12p12.1(chr12:24500946-24624973)x1	SOX5	Copy number loss	not provided	GUncertain significance
Select item 2685435	GRCh37/hg19 12p12.1(chr12:23594097-23768820)x1	SOX5	Copy number loss	not provided	GPathogenic
Select item 1808946	GRCh37/hg19 12p12.1(chr12:24472336-24597786)x1	SOX5	Copy number loss	not provided	GUncertain significance
Select item 1807919	GRCh37/hg19 12p12.1(chr12:24559682-24596697)x1	SOX5	Copy number loss	not provided	GUncertain significance
Select item 1341190	GRCh37/hg19 12p12.1(chr12:23656814-23741624)x1	SOX5	Copy number loss	not provided	GPathogenic
Select item 1340804	GRCh37/hg19 12p12.1(chr12:24559681-24596697)x1	SOX5	Copy number loss	not provided	GUncertain significance
Select item 1340410	GRCh37/hg19 12p12.1(chr12:23537708-23757164)x1	SOX5	Copy number loss	not provided	GPathogenic
Select item 1340259	GRCh37/hg19 12p12.1(chr12:23961188-24011932)x1	SOX5	Copy number loss	not provided	GLikely pathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 979339	GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1	GYS2, KCNJ8 +11 more	Copy number loss	not provided	GPathogenic
Select item 815515	GRCh37/hg19 12p12.1(chr12:24347113-24471815)x1	SOX5	Copy number loss	not provided	GLikely pathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563930	GRCh37/hg19 12p12.1(chr12:24520231-24818312)x3	SOX5	Copy number gain	not provided	GUncertain significance
Select item 563900	GRCh37/hg19 12p12.1(chr12:24351933-24436553)x1	SOX5	Copy number loss	not provided	GLikely pathogenic
Select item 563888	GRCh37/hg19 12p12.1(chr12:24559681-24595270)x1	SOX5	Copy number loss	not provided	GUncertain significance
Select item 563887	GRCh37/hg19 12p12.1(chr12:23753715-23776824)x1	SOX5	Copy number loss	not provided	GLikely pathogenic