"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "G6PD"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 193829	NM_001360016.2(G6PD):c.1288-14TC[2]	G6PD	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1163784	NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)	G6PD (P396A +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	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 10381	NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)	G6PD (E398K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 10401	NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	G6PD (E317K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 93503	NM_001360016.2(G6PD):c.864+17A>T	G6PD	Single nucleotide variant (intron variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GConflicting classifications of pathogenicity
Select item 10372	NM_000402.4(G6PD):c.934G>C (p.Asp312His)	G6PD (D282H +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic
Select item 1014718	NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)	G6PD (A277S +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GUncertain significance
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 1163785	NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)	G6PD (G204D +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +1 more	GLikely pathogenic
Select item 368101	NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)	G6PD (D194E +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +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 37203	NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	G6PD (D181V +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +3 more	GPathogenic/Likely pathogenic
Select item 706112	NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)	G6PD (M189I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380763	NM_001360016.2(G6PD):c.373A>G (p.Met125Val)	G6PD (M125V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163786	NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)	G6PD (K112Q +1 more)	Single nucleotide variant (missense variant)	Anemia, nonspherocytic hemolytic, due to G6PD deficiency +2 more	GUncertain significance
Select item 37123	NM_000402.4(G6PD):c.292G>A (p.Val98Met)	G6PD (V68M +1 more)	Single nucleotide variant (missense variant)	G6PD deficiency +5 more	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

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Items: 22