"GeneDx"[submitter] AND "RGP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1191426	NM_001080496.3(RGP1):c.-116CGC[9]	GBA2, LOC130001725 +1 more	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1273691	NM_001080496.3(RGP1):c.-22G>C	GBA2, RGP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1288609	NM_001080496.3(RGP1):c.-20+139T>C	GBA2, LOC130001727 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACO1, ADAMTSL1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

ClinVar