GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
G6PD H32Rinsufficiently evaluated pathogenicunknown

(4 web hits)

G6PD A44Ginsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD I48Tinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD D58Ninsufficiently evaluated pathogenicunknown
G6PD V68Minsufficiently evaluated pathogenicrecessive

This amino acid variant is almost always found in combination with N126D in Africans and the combination of these variants is associated with G6PD deficiency. The combination is also called genotype “A-” and is associated with X-linked G6PD enzyme deficiency. This is pathogenic but often not symptomatic except in the presence of stressors (which includes broad beans, this is related to “favism”). The variant is also associated with resistance to malaria, which is believed to have led to positive selection for it in individuals of African descent.

(16 web hits)

G6PD H70Yinsufficiently evaluated pathogenicunknown
G6PD V98Minsufficiently evaluated not reviewed, f=0.041unknown var-GS19025-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
G6PD N126Duncertain benignrecessive

This amino acid variant is found in two different G6PD gene variants found in Africans and is associated with G6PD deficiency. The wild-type version of this gene is called “A” and this variant, alone, produces the “A+” version of the gene. This variant is benign, but is often found in combination with Val68Met, producing the “A-” version of this gene that is associated with X-linked enzyme deficiency.

(51 web hits)

G6PD G131Vinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD N156Dinsufficiently evaluated none, f=0.114unknown

(1 web hit)

var-GS19025-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
G6PD E156Kinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD G163Sinsufficiently evaluated pathogenicunknown

(11 web hits)

G6PD N165Dinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD F173Linsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD D181Vinsufficiently evaluated pathogenicunknown

(2 web hits)

G6PD E186Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM (hom)
G6PD S188Finsufficiently evaluated pathogenicunknown

(52 web hits)

G6PD R198Cinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD R198Hinsufficiently evaluated pathogenicunknown

(14 web hits)

G6PD R198Pinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD V213Linsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD F216Linsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD R227Qinsufficiently evaluated pathogenicunknown

(2 web hits)

G6PD R227Linsufficiently evaluated pathogenicunknown
G6PD C269Yinsufficiently evaluated pathogenicunknown

(7 web hits)

G6PD D282Hinsufficiently evaluated pathogenicunknown

(6 web hits)

G6PD R285Hinsufficiently evaluated pathogenicunknown

(2 web hits)

G6PD V291Minsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD E317Kinsufficiently evaluated pathogenicunknown
G6PD Y322Hinsufficiently evaluated pathogenicunknown
G6PD L323Pinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD A335Tinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD L342Finsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD P353Sinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD A361Vinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD N363Kinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD C385Rinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD K386Einsufficiently evaluated pathogenicunknown

(4 web hits)

G6PD R387Cinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD R387Hinsufficiently evaluated pathogenicunknown

(5 web hits)

G6PD R393Hinsufficiently evaluated pathogenicunknown

(34 web hits)

G6PD V394Linsufficiently evaluated pathogenicunknown

(10 web hits)

G6PD E398Kinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD G410Dinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD G410Cinsufficiently evaluated pathogenicunknown

(1 web hit)

G6PD N414Hinsufficiently evaluated not reviewedunknown
G6PD R439Pinsufficiently evaluated pathogenicunknown
G6PD N444Hinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_D01_200_37 (hom)
G6PD G447Rinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD R454Hinsufficiently evaluated pathogenicunknown

(6 web hits)

G6PD R459Linsufficiently evaluated pathogenicunknown

(39 web hits)

G6PD R459Pinsufficiently evaluated pathogenicunknown

(3 web hits)

G6PD R463Hinsufficiently evaluated pathogenicunknown

(12 web hits)

G6PD P467Rinsufficiently evaluated pathogenicunknown
G6PD P481Rinsufficiently evaluated pathogenicunknown
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Total results: 55

Gene search

"GENE" or "GENE A123C":

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