"Revvity Omics, Revvity"[submitter] AND "G6PD"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441602	NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)	G6PD (M496R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 1478217	NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)	G6PD (L474V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 100059	NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	G6PD (R463H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 100058	NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	G6PD (R459L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 93493	NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	G6PD (R454C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 1722629	NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)	G6PD (V453E +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GLikely pathogenic
Select item 1722624	NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)	G6PD (V444I +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 439743	NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)	G6PD (L440F +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic/Likely pathogenic
Select item 10399	NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)	G6PD (R439P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10378	NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)	G6PD (G410C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic/Likely pathogenic
Select item 10370	NM_000402.4(G6PD):c.1268G>A (p.Arg423His)	G6PD (R393H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic
Select item 10376	NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	G6PD (R387H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GPathogenic
Select item 10375	NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)	G6PD (K386E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93489	NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)	G6PD (D350H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GConflicting classifications of pathogenicity
Select item 10405	NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	G6PD (L342F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 10363	NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	G6PD (A335T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic
Select item 10411	G6PD NARA	G6PD	Deletion (inframe_deletion)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 10388	NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	G6PD (L323P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2441601	NM_001360016.2(G6PD):c.909_911del (p.Val304del)	G6PD (V304del +1 more)	Deletion (inframe_deletion)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 10386	NM_000402.4(G6PD):c.961G>A (p.Val321Met)	G6PD (V291M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1324435	NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)	G6PD (T279S +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +2 more	GConflicting classifications of pathogenicity
Select item 10383	NM_000402.4(G6PD):c.727G>T (p.Val243Leu)	G6PD (V213L +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1722746	NM_001360016.2(G6PD):c.634A>G (p.Met212Val)	G6PD (M212V +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 100057	NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	G6PD (S188F +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 2441604	NM_001360016.2(G6PD):c.553A>C (p.Asn185His)	G6PD (N185H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance
Select item 10367	NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	G6PD (G163S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic/Likely pathogenic
Select item 1075240	NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	G6PD (R136C +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 854215	NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)	G6PD (N135T +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +3 more	GPathogenic
Select item 10404	NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	G6PD (G131V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 968939	NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	G6PD (L128R +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GPathogenic/Likely pathogenic
Select item 93499	NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	G6PD (L128P +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1546331	NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)	G6PD (N126Y +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GConflicting classifications of pathogenicity
Select item 449323	NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)	G6PD (Y100C +1 more)	Single nucleotide variant (missense variant)	Malaria, susceptibility to +2 more	GPathogenic/Likely pathogenic
Select item 10416	NM_000402.4(G6PD):c.298T>C (p.Tyr100His)	G6PD (Y100H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GPathogenic/Likely pathogenic
Select item 10402	NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	G6PD (I48T +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 10406	NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	G6PD (A44G +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 10403	NM_000402.4(G6PD):c.185A>G (p.His62Arg)	G6PD, IKBKG (H32R +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +4 more	GPathogenic/Likely pathogenic
Select item 2441600	NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)	G6PD, IKBKG (R17Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	GUncertain significance

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Items: 38