"GeneDx"[submitter] AND "ASPN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 1248251	NM_017680.6(ASPN):c.114TGA[19] (p.Asp50_Glu51insAspAspAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1237100	NM_017680.6(ASPN):c.114TGA[16] (p.Asp50_Glu51insAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 419955	NM_017680.6(ASPN):c.114TGA[17] (p.Asp50_Glu51insAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1302755	NM_017680.6(ASPN):c.112_152= (p.Asp38_Glu51=)	ASPN, CENPP	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

ClinVar