"GeneDx"[submitter] AND "GLG1"[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 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 509618	NM_001145667.2(GLG1):c.774+5C>G	GLG1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1226456	NM_001145667.2(GLG1):c.612G>A (p.Leu204=)	GLG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

ClinVar