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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1809078	GRCh37/hg19 7p14.3(chr7:33327326-33587544)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 1341009	GRCh37/hg19 7p14.3(chr7:33586413-33813723)x3	BBS9	Copy number gain	not provided	GUncertain significance
Select item 1340042	GRCh37/hg19 7p14.3(chr7:33304341-33457501)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 979763	GRCh37/hg19 7p14.3(chr7:33450970-33586514)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 979762	GRCh37/hg19 7p14.3(chr7:33251174-33415723)x1	BBS9	Copy number loss	not provided	GUncertain significance
Select item 979760	GRCh37/hg19 7p14.3(chr7:33467039-33531339)x1	BBS9	Copy number loss	not provided	GLikely benign
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 563322	GRCh37/hg19 7p14.3(chr7:33489068-33722022)x3	BBS9	Copy number gain	not provided	GUncertain significance

ClinVar