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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685261	GRCh37/hg19 7q22.3(chr7:104872997-104938669)x1	SRPK2	Copy number loss	not provided	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684501	GRCh37/hg19 7q22.3(chr7:104787325-105267284)x3	ATXN7L1, PUS7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684500	GRCh37/hg19 7q22.3(chr7:104588862-105049659)x3	KMT2E, SRPK2	Copy number gain	not provided	GUncertain significance
Select item 1808606	GRCh37/hg19 7q22.2-22.3(chr7:104497480-105121286)x1	KMT2E, LHFPL3 +2 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563407	GRCh37/hg19 7q22.1-22.3(chr7:102910570-105104800)x1	SRPK2, PUS7 +8 more	Copy number loss	not provided	GLikely pathogenic

ClinVar