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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684814	GRCh37/hg19 16q22.2(chr16:70823633-71541641)x3	CALB2, CMTR2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1340701	GRCh37/hg19 16q22.1-22.2(chr16:70272361-70983737)x1	AARS1, COG4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564339	GRCh37/hg19 16q22.2(chr16:70983768-71201052)x1	HYDIN	Copy number loss	not provided	GUncertain significance
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic

ClinVar