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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 979843	GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3	CFAP418, CCNE2 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 815147	GRCh37/hg19 8q22.1(chr8:97830138-97887447)x1	CPQ	Copy number loss	not provided	GUncertain significance
Select item 815146	GRCh37/hg19 8q22.1(chr8:97656087-98126625)x1	CPQ	Copy number loss	not provided	GUncertain significance
Select item 815145	GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3	SDC2, CPQ +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563528	GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1	SDC2, UQCRB +5 more	Copy number loss	not provided	GUncertain significance

ClinVar