"GeneDx"[submitter] AND "GRXCR2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1240861	NM_001080516.2(GRXCR2):c.*292T>C	GRXCR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249155	NM_001080516.2(GRXCR2):c.*177C>G	GRXCR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261199	NM_001080516.2(GRXCR2):c.*13G>C	GRXCR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260395	NM_001080516.2(GRXCR2):c.564+315T>A	GRXCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274873	NM_001080516.2(GRXCR2):c.564+102G>C	GRXCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235667	NM_001080516.2(GRXCR2):c.543A>C (p.Leu181Phe)	GRXCR2 (L181F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1279473	NM_001080516.2(GRXCR2):c.337-280A>G	GRXCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 804889	NM_001080516.2(GRXCR2):c.293G>A (p.Gly98Asp)	GRXCR2 (G98D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1465821	NM_001080516.2(GRXCR2):c.292G>T (p.Gly98Cys)	GRXCR2 (G98C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 804888	NM_001080516.2(GRXCR2):c.155G>A (p.Ser52Asn)	GRXCR2 (S52N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1262786	NM_001080516.2(GRXCR2):c.-43G>A	GRXCR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign