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

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Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 1286961	NM_000637.5(GSR):c.1420-39_1420-38del	GSR	Deletion (intron variant)	not provided	GBenign
Select item 1271483	NM_000637.5(GSR):c.1420-38del	GSR	Deletion (intron variant)	not provided	GBenign
Select item 1273497	NM_000637.5(GSR):c.1420-146G>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272685	NM_000637.5(GSR):c.1154-45A>C	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231439	NM_000637.5(GSR):c.1153+320_1153+321dup	GSR	Duplication (intron variant)	not provided	GBenign
Select item 1228471	NM_000637.5(GSR):c.1153+320dup	GSR	Duplication (intron variant)	not provided	GBenign
Select item 1264259	NM_000637.5(GSR):c.1042-199G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262725	NM_000637.5(GSR):c.1042-219C>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252531	NM_000637.5(GSR):c.1041+42A>G	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286141	NM_000637.5(GSR):c.883-130C>G	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439766	NM_000637.5(GSR):c.696-10C>T	GSR	Single nucleotide variant (intron variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GBenign
Select item 1267009	NM_000637.5(GSR):c.493-130G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810945	NM_000637.5(GSR):c.457C>T (p.Arg153Cys)	GSR (R153C)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GBenign
Select item 1228863	NM_000637.5(GSR):c.423-226T>C	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260715	NM_000637.5(GSR):c.423-236C>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258539	NM_000637.5(GSR):c.423-287G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439765	NM_000637.5(GSR):c.334-5del	GSR	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1275617	NM_000637.5(GSR):c.334-109G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243593	NM_000637.5(GSR):c.307-47G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178532	NM_000637.5(GSR):c.307-221G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291734	NM_000637.5(GSR):c.307-222C>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246649	NM_000637.5(GSR):c.306+165G>A	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288174	NM_000637.5(GSR):c.306+124C>T	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263213	NM_000637.5(GSR):c.306+103G>C	GSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811569	NM_000637.5(GSR):c.261T>C (p.Gly87=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 811570	NM_000637.5(GSR):c.189C>T (p.Ala63=)	GSR, LOC130000170	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1233347	NC_000008.11:g.30728098C>T	GSR, LOC130000171	Single nucleotide variant	not provided	GBenign
Select item 1278840	NC_000008.11:g.30728105T>G	GSR, LOC130000171	Single nucleotide variant	not provided	GBenign
Select item 1267861	NC_000008.11:g.30728153G>C	GSR	Single nucleotide variant	not provided	GBenign
Select item 1286958	NC_000008.11:g.30728184dup	GSR	Duplication	not provided	GBenign
Select item 1276408	NC_000008.11:g.30728221G>T	GSR	Single nucleotide variant	not provided	GBenign

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Items: 35