C5231513[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432316	NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)	GSR (A427T +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432323	NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)	GSR (K414Q +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2689171	NM_000637.5(GSR):c.1358C>T (p.Ala453Val)	GSR (A371V +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432317	NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)	GSR (P337L +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432312	NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)	GSR (E317A +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432320	NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)	GSR (R309* +3 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432322	NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)	GSR (E279K +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2689168	NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)	GSR (K272E +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2689169	NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)	GSR (D270N +3 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432313	NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)	GSR (D312E +1 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 811067	NM_000637.5(GSR):c.878C>G (p.Ser293Cys)	GSR (S293C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1330556	NM_000637.5(GSR):c.859G>A (p.Val287Met)	GSR (V287M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2432324	NM_000637.5(GSR):c.815C>T (p.Ser272Leu)	GSR (S272L)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432319	NM_000637.5(GSR):c.781A>G (p.Ile261Val)	GSR (I261V)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 811894	NM_000637.5(GSR):c.697C>T (p.Arg233Cys)	GSR (R233C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2689172	NM_000637.5(GSR):c.476A>T (p.Gln159Leu)	GSR (Q159L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1163477	NM_000637.5(GSR):c.439C>G (p.Arg147Gly)	GSR (R147G)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +2 more	GUncertain significance
Select item 2689170	NM_000637.5(GSR):c.433G>A (p.Glu145Lys)	GSR (E145K)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432314	NM_000637.5(GSR):c.395C>T (p.Pro132Leu)	GSR (P132L)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2432321	NM_000637.5(GSR):c.372T>C (p.His124=)	GSR	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 1331064	NM_000637.5(GSR):c.242G>A (p.Arg81His)	GSR, LOC130000170 (R81H)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency +1 more	GUncertain significance
Select item 2689173	NM_000637.5(GSR):c.172G>T (p.Ala58Ser)	GSR, LOC130000170 (A58S)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GUncertain significance
Select item 2658517	NM_000637.5(GSR):c.94G>T (p.Glu32Ter)	GSR, LOC130000170 (E32*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432315	NM_000637.5(GSR):c.13C>T (p.Pro5Ser)	GSR, LOC130000170 (P5S)	Single nucleotide variant (missense variant)	Hemolytic anemia due to glutathione reductase deficiency	GLikely benign

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Items: 24