G6PD — 796 ClinVar variants

All ClinVar germline G6PD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →

60 Pathogenic · 40 Pathogenic/Likely pathogenic · 119 Likely pathogenic · 72 Conflicting · 23 Benign · 10 Benign/Likely benign · 287 Likely benign · 185 Uncertain significance

Full G6PD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 237

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 31

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

G6PD p.Ala365Thr Pathogenic Multiple submitters
G6PD-related disorders
G6PD p.Arg459Gly Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg493His Pathogenic Multiple submitters
G6PD-related disorders
G6PD p.Arg81Cys Pathogenic/Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu347Lys Pathogenic/Likely pathogenic Multiple submitters
G6PD-related disorders
G6PD p.His155Asp Pathogenic/Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile355Val Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu128Arg Pathogenic/Likely pathogenic Multiple submitters
malaria, susceptibility to
G6PD p.Pro497Arg Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser218Phe Pathogenic/Likely pathogenic Multiple submitters
Hemolytic anemia, G6PD deficient (favism)
G6PD p.Thr279Ala Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val150Ile Likely pathogenic Multiple submitters
malaria, susceptibility to
G6PD p.Ala231Thr Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg459Cys Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn135His Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn135Ser Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Cys385Gly Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu148Lys Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu3Lys Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly316Ser Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His124Arg Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile380Val Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile480Phe Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Lys238Arg Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Lys97Met Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe66Cys Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro481Leu Likely pathogenic Single submitter
G6PD p.Pro92Ser Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser184Cys Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser448Gly Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val12Leu Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency

Predictors agree, ClinVar conflicts 26

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

G6PD p.Arg136His Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg257Gly Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg330His Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg459His Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg469Pro Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn126Tyr Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn135Thr Conflicting Single submitter
G6PD deficiency
G6PD p.Asn156Asp Conflicting Single submitter
G6PD deficiency
G6PD p.Asn414His Conflicting Single submitter
G6PD deficiency
G6PD p.Asp194Glu Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp211Val Conflicting Single submitter
malaria, susceptibility to
G6PD p.Asp283Val Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp325Asn Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu186Lys Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu63Lys Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly247Arg Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly378Ser Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly485Asp Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu235Phe Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe102Ser Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe66Ile Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro396Leu Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro489Leu Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr145Ser Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr51Ile Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val233Ile Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency

Predictors lean, ClinVar uncertain 108

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

G6PD p.Ala149Thr Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala277Ser Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg182Pro Uncertain significance Multiple submitters
G6PD p.Arg330Cys Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn185His Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn426Lys Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp24Glu Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln384His Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu287Lys Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu297Lys Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu368Asp Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu494Lys Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly425Ser Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu474Val Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Lys366Glu Uncertain significance Multiple submitters
hemolytic anemia
G6PD p.Lys82Gln Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Met496Arg Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val341Ile Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala116Pro Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala116Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala141Thr Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala217Gly Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala25Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala25Thr Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala272Val Uncertain significance Single submitter
G6PD p.Ala277Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala2Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala338Val Uncertain significance Single submitter
G6PD p.Ala339Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg120Leu Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg182Gln Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg192His Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg365Cys Uncertain significance Single submitter
G6PD p.Arg439His Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg487Gln Uncertain significance Single submitter
G6PD p.Arg498Lys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg57Trp Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg74Cys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg74Gly Uncertain significance Single submitter
G6PD p.Arg74His Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg9Gln Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn185Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn210Asp Uncertain significance Single submitter
G6PD p.Asn229Ile Uncertain significance Single submitter
G6PD p.Asn346Ile Uncertain significance Single submitter
G6PD p.Asn426Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp228Asn Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp24Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp30Asn Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp30Tyr Uncertain significance Single submitter
G6PD deficiency
G6PD p.Asp313Asn Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp58Gly Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Cys358Gly Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln178His Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln195Arg Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln209His Uncertain significance Single submitter
G6PD p.Gln28His Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln471Pro Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu315Asp Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu364Lys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu389Lys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu438Lys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu93Lys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly23Val Uncertain significance Single submitter
Inborn genetic diseases
G6PD p.Gly310Arg Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly316Asp Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly359Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly38Ser Uncertain significance Single submitter
G6PD p.Gly410Ser Uncertain significance Single submitter
G6PD p.His124Tyr Uncertain significance Single submitter
G6PD p.His129Pro Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His27Arg Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His27Tyr Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His382Gln Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His513Asn Uncertain significance Single submitter
Inborn genetic diseases
G6PD p.Ile167Phe Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile187Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile224Val Uncertain significance Single submitter
G6PD p.Ile230Val Uncertain significance Single submitter
G6PD p.Ile33Val Uncertain significance Single submitter
G6PD p.Ile35Met Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile380Asn Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu137Pro Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu142Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu211Phe Uncertain significance Single submitter
G6PD p.Leu468Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu96Pro Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Met125Val Uncertain significance Single submitter
G6PD p.Phe26Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe412Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe56Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe66Tyr Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro276Ala Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro481Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser84Asn Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr423Ile Uncertain significance Single submitter
Inborn genetic diseases
G6PD p.Thr466Ala Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr506Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr65Asn Uncertain significance Single submitter
G6PD p.Thr91Pro Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Trp164Arg Uncertain significance Single submitter
G6PD p.Trp225Cys Uncertain significance Single submitter
G6PD p.Tyr308His Uncertain significance Single submitter
G6PD-related disorder
G6PD p.Tyr70Phe Uncertain significance Single submitter
G6PD p.Val12Met Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val146Ile Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val304Ile Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp286Gly Uncertain significance No assertion criteria
anemia, nonspherocytic hemolytic, due to G6PD deficiency

Predictors split 72

The independent predictors disagree with each other — read with care.

G6PD p.Ala335Asp Pathogenic/Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ala44Thr Pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg182Trp Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg219Gly Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg498Thr Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp113Asn Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp251Asn Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Cys385Phe Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Cys415Arg Pathogenic/Likely pathogenic Multiple submitters
G6PD-related disorders
G6PD p.Gln449His Pathogenic/Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu252Lys Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Glu416Lys Pathogenic/Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His451Tyr Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His62Arg Pathogenic/Likely pathogenic Multiple submitters
G6PD-related disorders
G6PD p.Ile78Thr Pathogenic/Likely pathogenic Multiple submitters
G6PD-related disorders
G6PD p.Lys416Glu Pathogenic/Likely pathogenic Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Met404Thr Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Phe88Leu Likely benign Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val169Met Uncertain significance Multiple submitters
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg104Cys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg17Gln Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg192Cys Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg257Gln Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg57Gln Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg81His Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Arg9Trp Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asn105Thr Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp324Gly Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Asp350His Conflicting Single submitter
G6PD deficiency
G6PD p.Asp88Asn Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Cys158Gly Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Cys232Tyr Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln111Arg Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gln449Arg Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly131Glu Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly14Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly222Val Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Gly321Ala Uncertain significance Single submitter
Inborn genetic diseases
G6PD p.Gly425Val Uncertain significance Single submitter
Inborn genetic diseases
G6PD p.His32Tyr Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.His513Tyr Uncertain significance Single submitter
G6PD p.Ile220Met Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ile36Thr Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu372Phe Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Leu515His Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Lys275Asn Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Lys429Glu Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Met159Ile Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Met212Val Conflicting Single submitter
malaria, susceptibility to
G6PD p.Met405Ile Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro415Leu Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro415Ser Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro481Ala Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Pro511Arg Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser106Phe Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser184Phe Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Ser184Thr Uncertain significance Single submitter
Inborn genetic diseases
G6PD p.Ser184Tyr Uncertain significance Single submitter
G6PD p.Ser8Arg Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr279Ile Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr279Ser Conflicting Single submitter
malaria, susceptibility to
G6PD p.Thr65Ala Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr76Ile Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Thr76Lys Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val108Glu Pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val259Met Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val271Leu Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val271Met Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val424Leu Likely pathogenic Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val431Met Conflicting Single submitter
malaria, susceptibility to
G6PD p.Val444Ile Conflicting Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency
G6PD p.Val499Glu Uncertain significance Single submitter
anemia, nonspherocytic hemolytic, due to G6PD deficiency

All G6PD variants

Pathogenic 60

p.Ala365Thr Multiple submitters G6PD-related disorders ⚠
p.Ala44Thr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg166Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg228Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg417Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg417His Multiple submitters malaria, susceptibility to
p.Arg423His Multiple submitters G6PD-related disorders
p.Arg454Cys Multiple submitters G6PD-related disorders
p.Arg454Pro Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg459fs Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg489Leu Multiple submitters G6PD-related disorders
p.Arg489Pro Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg493His Multiple submitters G6PD-related disorders ⚠
p.Glu460Ter Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile199Val Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe173Leu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe203Leu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro383Ser Multiple submitters G6PD-related disorders
p.Pro489Ser Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1054_1055insG Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-2A>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.-9+2T>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala399fs Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg393Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg463Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp283Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp493fs Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys385Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Cys385Trp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln11Ter Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln195His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln28Ter Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln395Ter Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly306Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly440Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly488Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile380Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Lys238Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Lys293_Cys294insTer Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys407Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys95del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Met405Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe373Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe381Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe452fs Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro276Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro409Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro409Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro409Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser179Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser184Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser184Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser189del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr334del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr402Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr118Ter Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr428Ter Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val108Glu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val431Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg227Leu No assertion criteria G6PD deficiency

Pathogenic/Likely pathogenic 40

p.Ala335Asp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala74Gly Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg136Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg166His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg227Trp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg228His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg315His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg463Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg484His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg81Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn195Asp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn363Ile Multiple submitters Inborn genetic diseases
p.Asn363Lys Multiple submitters Inborn genetic diseases
p.Asp312His Multiple submitters G6PD-related disorders
p.Cys415Arg Multiple submitters G6PD-related disorders ⚠
p.Gln449His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu347Lys Multiple submitters G6PD-related disorders ⚠
p.Glu398Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu416Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly161Val Multiple submitters G6PD-related disorders
p.Gly193Ser Multiple submitters G6PD-related disorders
p.Gly440Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly477Arg Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His155Asp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His62Arg Multiple submitters G6PD-related disorders ⚠
p.Ile380Thr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile78Thr Multiple submitters G6PD-related disorders ⚠
p.Leu128Arg Multiple submitters malaria, susceptibility to ⚠
p.Leu128Pro Multiple submitters G6PD-related disorders
p.Leu323Pro Multiple submitters G6PD-related disorders
p.Leu440Phe Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys416Glu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro396Ala Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro396Arg Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser218Phe Multiple submitters Hemolytic anemia, G6PD deficient (favism) ⚠
p.Tyr100His Multiple submitters G6PD-related disorders
p.Tyr70Cys Multiple submitters malaria, susceptibility to
p.Val243Leu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val321Met Multiple submitters G6PD-related disorders
p.Val98Met Multiple submitters G6PD-related disorders

Likely pathogenic 119

p.Ala391Val Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg219Gly Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg365His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg393Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg459Gly Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg463Ser Multiple submitters G6PD deficiency
p.Asn393Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys299Tyr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys385Phe Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly204Asp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly321Glu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly410Ala Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His451Tyr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile355Val Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu137Phe Multiple submitters malaria, susceptibility to
p.Pro497Arg Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser278Phe Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser332Phe Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr279Ala Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val150Ile Multiple submitters malaria, susceptibility to ⚠
p.Val453Glu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+7_1458-43del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-17C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-17del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+43G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+44del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala231Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala231Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala361Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala461Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg104= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg17Trp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg198Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg227Gly Single submitter malaria, susceptibility to
p.Arg228Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg246fs Single submitter malaria, susceptibility to
p.Arg246Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg257Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg285Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg3Trp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg439Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg454Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg459Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn135His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn135Ile Single submitter G6PD deficiency
p.Asn135Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn229del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp176Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp200Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp282Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp456Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp456His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp456Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp79His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys158Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys232Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln119Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln307His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln307Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln449Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu148Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu274Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu274Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu389Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu398Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu3Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu460Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly163Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly174del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly242_Thr243del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly248Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly316Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly321Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly351Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly447Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His124Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His155Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His32Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile196Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile392Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile392Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile480Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu356Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu362_Ala367del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu458Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu60Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu75Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys275Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Lys497del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys97Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe138Val Single submitter
p.Phe191Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe246Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe381Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe445Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe66Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro144Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro172Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro276Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro481Leu Single submitter ⚠
p.Pro62His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro62Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro92Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser278Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser448Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser73= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr336Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr118His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr118Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr343fs Single submitter malaria, susceptibility to
p.Tyr352His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val12Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val233Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val271Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val284Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val304Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val328Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val344Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val424Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠

Conflicting classifications of pathogenicity 72

c.1051+15C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1051+16G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.120+7A>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.120+9C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1365-5C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1458-13C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.158+13C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+13G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-14C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-34del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-12C>T Single submitter G6PD deficiency
c.771-11T>C Single submitter G6PD deficiency
c.864+14C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+17A>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.865-16C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.*365G>A Single submitter G6PD deficiency
c.*520G>A Single submitter G6PD deficiency
p.Arg136His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg257Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg257Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg330His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg459His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg469Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg57Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg81His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn126Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn135Thr Single submitter G6PD deficiency ⚠
p.Asn156Asp Single submitter G6PD deficiency ⚠
p.Asn388= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn414His Single submitter G6PD deficiency ⚠
p.Asp194Glu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp211Val Single submitter malaria, susceptibility to ⚠
p.Asp283Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp325Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp350His Single submitter G6PD deficiency ⚠
p.Asp443= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp88Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu186Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu63Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu99= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly247Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly378Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly485Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His32Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile220Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile33Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile36del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu235Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu372Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Lys429Glu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Met159Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Met212Val Single submitter malaria, susceptibility to ⚠
p.Phe102Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe173= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe250= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe66Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe87= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro396Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro415= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro481Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro489Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro511Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser455= Single submitter Inborn genetic diseases
p.Thr145Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr279Ser Single submitter malaria, susceptibility to ⚠
p.Thr466= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr51Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr65Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr76Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val233Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val431Met Single submitter malaria, susceptibility to ⚠
p.Val444Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠

Benign 23

c.120+199dup Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-135A>G Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-270G>A Multiple submitters
c.1365-13C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-60C>G Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-17C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.770+175C>T Multiple submitters
c.864+163C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.865-221C>T Multiple submitters
c.-9+323= Multiple submitters
c.-9+340= Multiple submitters
c.120+235G>A Single submitter
c.120+2955A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.120+3126T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-1792T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-1813del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-2107T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-2679C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-4460del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-29G>T Single submitter
c.-111A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.*66GGA[1] Single submitter
c.-14G>A No assertion criteria G6PD-related disorder

Benign/Likely benign 10

c.1288-14TC[2] Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1455-13T>C Multiple submitters G6PD deficiency
c.645-8_645-5del Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.*357= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala127= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg104His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln372= Multiple submitters G6PD deficiency
p.Ile230= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro477= Multiple submitters G6PD deficiency
p.Tyr437= Multiple submitters G6PD deficiency

Likely benign 287

c.1051+11C>G Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1051+19G>C Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-19T>C Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-4G>A Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-13C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-14T>A Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-15C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-4A>G Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+17G>A Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+19C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1458-12G>A Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.268-12C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.268-13C>T Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.644+20G>A Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-8G>A Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+8dup Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.-43C>T Multiple submitters
c.-49T>G Multiple submitters
c.-9+7G>C Multiple submitters
p.Arg330= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp258= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp324= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys446= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu494= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly351= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly378= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly69= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile168= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu371= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu469= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe221= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe88Leu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro144= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser106= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr145= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr319= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr424= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val271= Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1051+11C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-10C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-15C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-16C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-8C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1052-9G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.120+13C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.120+14A>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.120+199del Single submitter
c.120+7A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-19C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-20A>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-4A>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.121-4A>G Single submitter
c.121-5C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1287+14A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1287+15A>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1287+18A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1287+19G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1287+7T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-11C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-12T>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-13C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-16A>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-17C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-19G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-5C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-8C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1288-8C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+10A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+14G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+15C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+16C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+18G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+19C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1364+9C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1365-12A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1365-19C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1365-7C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1365-8C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1365-8C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+10G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+11G>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+11G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+12G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+14G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+15G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+17G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+31C>G Single submitter
c.1457+9A>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1458-13C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1458-7T>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1458-7T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.158+16C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.158+17A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.158+20G>C Single submitter
c.159-11C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.159-16T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.159-17C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.159-7C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.159-8G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.267+10G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.267+10G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.267+7G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.268-11G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.268-24TGTC[2] Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.268-6T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+12C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+14T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+15T>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+15T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+17C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+19C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-6C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.644+10A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.644+19C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.644+7C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.644+9A>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-10C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-14G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-7C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-8C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-9T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.770+12T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.770+8C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.770+9T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-13C>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-13C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-15C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-17G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-20C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-20C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-4C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-9C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+10G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+13C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+16C>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+17A>G Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+7G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.865-18C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.865-5C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.-20G>T Single submitter
c.-24CCCGCC[4] Single submitter
c.-25A>G Single submitter
c.-52A>C Single submitter
c.-8-6C>T Single submitter
c.-9+10C>T Single submitter
c.-9+11G>C Single submitter
c.-9+11G>T Single submitter
c.-9+9C>A Single submitter
c.*272G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.*304T>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala103= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala115= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala116= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala141= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala149= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala231= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala338= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala339= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala377= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala399= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala44= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala71= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala90= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg120His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg182= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg246= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg370= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Arg387= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn218= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn229= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn262= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn280= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn397= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn426= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asn430= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp194= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp251= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp283= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp313= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp435= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp456= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp493= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys232= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Cys358= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln111= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln195= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gln502= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu170= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu438= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu457= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly245= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly316= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly41= Single submitter
p.Gly488= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly505= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Gly59= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His155= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His186= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile167= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile199= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile224= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile355= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile441= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile67= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile80= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu128= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu140= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu190= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu20= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu203= Single submitter
p.Leu211= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu264= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu265= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu268= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu270= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu305= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu323= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu356= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu362= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu420= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu422= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu442= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu468= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu474= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu495= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu515= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu55= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu60= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Leu7= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys366= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys403= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys476= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Lys497= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Met125Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe138= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe216= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe26= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe452= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Phe56= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro172= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro223= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro240= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro276= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro312= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro353= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro409= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro479= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro481= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro489= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro512= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Pro62= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser132= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser184= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser188= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser29= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser418= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser448= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr10= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr236= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr334= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr402= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr406= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr423= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr490= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr51= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr76= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Thr91= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr107= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr112= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr147= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr202= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr308= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr401= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr482= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr484= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Tyr70= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val289= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val298= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val303= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val340= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val341= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val352= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val394= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val431= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val499= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+40G>A No assertion criteria G6PD-related disorder
p.Thr327= No assertion criteria G6PD-related disorder

Uncertain significance 185

c.1287+3G>C Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.485+3A>G Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ala149Thr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala277Ser Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg182Pro Multiple submitters ⚠
p.Arg182Trp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg330Cys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg498Thr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn185His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn426Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp113Asn Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp113Tyr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Asp24Glu Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp251Asn Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln384His Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu252Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu287Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu297Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu368Asp Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu494Lys Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly425Ser Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu474Val Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Lys366Glu Multiple submitters hemolytic anemia ⚠
p.Lys82Gln Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Met404Thr Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Met496Arg Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val169Met Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val341Ile Multiple submitters anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
c.120+3762A>G Single submitter
c.121-46G>A Single submitter
c.1287+20C>T Single submitter
c.1287+3G>A Single submitter
c.1288-3C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.1457+34A>G Single submitter
c.1457+37_1458-10dup Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.159-3C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-10C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.486-4_486-3delinsTT Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.644+6G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.645-3C>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.771-3C>T Single submitter
c.864+5G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.864+6G>C Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.-23G>A Single submitter G6PD deficiency
c.-28_-26dup Single submitter
c.-32G>T Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.*25C>T Single submitter G6PD deficiency
c.*281C>T Single submitter G6PD deficiency
c.*357G>A Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
c.*466C>G Single submitter G6PD deficiency
c.*47G>A Single submitter
c.*50G>A Single submitter
c.*535G>T Single submitter G6PD deficiency
c.*548C>T Single submitter G6PD deficiency
c.*599C>T Single submitter G6PD deficiency
c.*75C>T Single submitter G6PD deficiency
p.Ala116Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala116Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala141Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala217Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala25Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala25Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala272Val Single submitter ⚠
p.Ala277Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala2Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala338Val Single submitter ⚠
p.Ala339Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ala367= Single submitter G6PD deficiency
p.Arg104Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg120Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg17Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg182Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg192Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg192fs Single submitter
p.Arg192His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg365Cys Single submitter ⚠
p.Arg439_Leu440insProAspAlaTyrGluArg Single submitter
p.Arg439His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg487Gln Single submitter ⚠
p.Arg498Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg4Gly Single submitter
p.Arg57Trp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg74Cys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg74Gly Single submitter ⚠
p.Arg74His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg9Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Arg9Trp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn105Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn185Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asn210Asp Single submitter ⚠
p.Asn229Ile Single submitter ⚠
p.Asn346Ile Single submitter ⚠
p.Asn426Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp228Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp24Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp30Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp30Tyr Single submitter G6PD deficiency ⚠
p.Asp313Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp324Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Asp58Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Cys158Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Cys358Gly Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln111Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln178His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln195Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln209His Single submitter ⚠
p.Gln28His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gln471Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu315Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu364Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu389Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu438Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Glu85= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Glu93Lys Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly131Glu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly14Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly222Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly23Val Single submitter Inborn genetic diseases ⚠
p.Gly310Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly316Asp Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly321Ala Single submitter Inborn genetic diseases ⚠
p.Gly359Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Gly38Ser Single submitter ⚠
p.Gly410Ser Single submitter ⚠
p.Gly425Val Single submitter Inborn genetic diseases ⚠
p.Gly447Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.His124Tyr Single submitter ⚠
p.His129Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His27Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His27Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His382Gln Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.His513Asn Single submitter Inborn genetic diseases ⚠
p.His513Tyr Single submitter ⚠
p.Ile15Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile167Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile187Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile224Val Single submitter ⚠
p.Ile230Val Single submitter ⚠
p.Ile234Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ile33Val Single submitter ⚠
p.Ile35Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile36Thr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ile380Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu137Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu142Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu211Phe Single submitter ⚠
p.Leu468Val Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu515His Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Leu96Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Met125Val Single submitter ⚠
p.Phe26Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe412Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe56Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Phe66Tyr Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro276Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro415Leu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro415Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Pro481Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser106Phe Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser184Thr Single submitter Inborn genetic diseases ⚠
p.Ser184Tyr Single submitter ⚠
p.Ser40= Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Ser84Asn Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Ser8Arg Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr279del Single submitter
p.Thr279Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr423Ile Single submitter Inborn genetic diseases ⚠
p.Thr466Ala Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr506Ser Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr65Asn Single submitter ⚠
p.Thr76Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Thr91Pro Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Trp164Arg Single submitter ⚠
p.Trp225Cys Single submitter ⚠
p.Tyr308His Single submitter G6PD-related disorder ⚠
p.Tyr70Phe Single submitter ⚠
p.Val12Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val146Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val259Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val271Met Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val304del Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency
p.Val304Ile Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
p.Val499Glu Single submitter anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠
c.-17G>T No assertion criteria G6PD-related disorder
p.Asp286Gly No assertion criteria anemia, nonspherocytic hemolytic, due to G6PD deficiency ⚠