"GeneDx"[submitter] AND "VAC14-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 1282718	NM_018052.5(VAC14):c.1371+27A>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269382	NM_018052.5(VAC14):c.1306-7C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183222	NM_018052.5(VAC14):c.1306-27G>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224980	NM_018052.5(VAC14):c.1161-30C>T	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar