"GeneDx"[submitter] AND "RRAGA"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316002	NM_001287049.2(SAXO1):c.-158+150A>C	SAXO1, RRAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232345	NM_001287049.2(SAXO1):c.-158+150A>G	RRAGA, SAXO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231413	NM_001287049.2(SAXO1):c.-168T>G	SAXO1, RRAGA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1288697	NM_006570.5(RRAGA):c.-146T>G	RRAGA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1269481	NM_006570.5(RRAGA):c.-62C>A	RRAGA	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 682035	NM_006570.5(RRAGA):c.909G>C (p.Val303=)	RRAGA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	CD274, RLN1 +59 more	Copy number gain	See cases	GPathogenic
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