GPI — 240 ClinVar variants
All ClinVar germline GPI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
14 Pathogenic · 6 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 12 Conflicting · 13 Benign · 6 Benign/Likely benign · 60 Likely benign · 116 Uncertain significance
Full GPI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GPI p.Ala337Thr
Pathogenic/Likely pathogenic
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg347His
Pathogenic/Likely pathogenic
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg472Cys
Pathogenic
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Ala337Val
Pathogenic
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg472His
Pathogenic
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Ile280Val Likely pathogenic Single submitter
-
GPI p.Val101Met
Pathogenic
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Thr5Ile
Pathogenic
No assertion criteria
hemolytic anemia due to glucophosphate isomerase deficiency
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GPI p.Ala232Val
Conflicting
Single submitter
Inborn genetic diseases
-
GPI p.Ala533Ser
Conflicting
Single submitter
Inborn genetic diseases
-
GPI p.Ile525Thr
Conflicting
Single submitter
Inborn genetic diseases
-
GPI p.Pro456Ala
Conflicting
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Tyr341Cys
Conflicting
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GPI p.Ala540Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Arg370His
Uncertain significance
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg556Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.His191Arg
Uncertain significance
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Lys466Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Lys550Glu
Uncertain significance
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Ser532Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Thr214Ala
Uncertain significance
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Thr442Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Val181Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GPI p.Ala232Glu Uncertain significance Single submitter
-
GPI p.Ala316Thr
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Ala350Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Arg273Cys
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg273Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Arg438Thr
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg446Gln
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg81Trp
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg96Gln
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Arg96Gly Uncertain significance Single submitter
-
GPI p.Asn186Ser
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Asn547Ser
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Asp117Tyr Uncertain significance Single submitter
-
GPI p.Asp140Asn
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Asp235Glu
Uncertain significance
Single submitter
GPI-related disorder
-
GPI p.Cys333Tyr
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gln261Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Gln552His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Glu444Lys
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Glu495Gly
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Glu516Lys Uncertain significance Single submitter
-
GPI p.Glu82Gln
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gly159Ser
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gly361Arg
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gly453Val
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.His389Arg
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.His421Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GPI p.Ile187Thr Uncertain significance Single submitter
-
GPI p.Ile208Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Ile219Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Ile284Thr
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Ile378Val Uncertain significance Single submitter
-
GPI p.Leu319Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Leu4Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- GPI p.Leu529Val Uncertain significance Single submitter
-
GPI p.Lys12Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Lys226Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Lys400Arg
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Met338Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Phe213Ile
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Phe40Leu Uncertain significance Single submitter
-
GPI p.Pro164Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Ser131Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Ser138Asn
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Ser176Leu
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Ser298Ala
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Ser532Thr
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Thr109Ile
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Thr190Ile Uncertain significance Single submitter
-
GPI p.Thr215Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Thr365Ile
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Thr474Ala Uncertain significance Single submitter
-
GPI p.Thr483Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Trp269Arg
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Trp513Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GPI p.Val152Ile Uncertain significance Single submitter
-
GPI p.Val253Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Val467Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 43
The independent predictors disagree with each other — read with care.
-
GPI p.Ala350Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Arg135His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Arg6Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Arg83Trp
Uncertain significance
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Asp31His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Ile477Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Ser441Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Thr309Met
Uncertain significance
Multiple submitters
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Val500Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GPI p.Ala240Val
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg106Gln
Conflicting
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg135Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Arg180His
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Arg308His
Conflicting
Single submitter
Inborn genetic diseases
-
GPI p.Arg370Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Arg81Gln
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Asn154Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Asp291Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Asp458Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Gln295His
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gln413Arg
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Glu227Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Glu294Lys
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gly139Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Gly49Ala
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Gly95Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.His301Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.His538Gln
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
- GPI p.Ile90Leu Uncertain significance Single submitter
-
GPI p.Lys523Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Met303Leu
Conflicting
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Pro527Ala
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Pro527Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GPI p.Ser283Thr Uncertain significance Single submitter
-
GPI p.Ser41Gly
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Thr195Ile
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Thr224Met
Conflicting
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Thr536Ile
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 42
-
GPI p.Thr61Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GPI p.Tyr174Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GPI p.Val478Ala Uncertain significance Single submitter
-
GPI p.Val64Met
Uncertain significance
Single submitter
hemolytic anemia due to glucophosphate isomerase deficiency
-
GPI p.Val77Met
Uncertain significance
Single submitter
Inborn genetic diseases
All GPI variants
Pathogenic 14
- p.Arg472Cys Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Glu82fs Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ala337Val Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg273His Single submitter
- p.Arg472His Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Asp539Asn Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Glu382Ter Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Gly87Cys Single submitter
- p.Trp380Ter Single submitter
- p.Val101Met Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.His20Pro No assertion criteria hemolytic anemia due to glucophosphate isomerase deficiency
- p.Leu339Pro No assertion criteria hemolytic anemia due to glucophosphate isomerase deficiency
- p.Thr375Arg No assertion criteria hemolytic anemia due to glucophosphate isomerase deficiency
- p.Thr5Ile No assertion criteria hemolytic anemia due to glucophosphate isomerase deficiency ⚠
Pathogenic/Likely pathogenic 6
- p.Ala337Thr Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg347Cys Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Arg347His Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg446Ter Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Arg96Ter Multiple submitters GPI-related disorders
- p.Gln343Arg Multiple submitters GPI-related disorders
Likely pathogenic 13
- c.1269+1G>A Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.1475-2A>G Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.283-2A>G Single submitter hereditary spherocytosis
- c.804+1_804+2del Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.866-1G>A Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Gln388fs Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Gly271fs Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ile280Val Single submitter ⚠
- p.Ser278Leu Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Tyr17fs Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Val318fs Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Val500fs Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Gln28Ter No assertion criteria GPI-related disorder
Conflicting classifications of pathogenicity 12
- c.1270-9G>A Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.214-12G>A Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ala232Val Single submitter Inborn genetic diseases ⚠
- p.Ala533Ser Single submitter Inborn genetic diseases ⚠
- p.Arg106Gln Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg308His Single submitter Inborn genetic diseases ⚠
- p.Ile525Thr Single submitter Inborn genetic diseases ⚠
- p.Met303Leu Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Pro409= Single submitter
- p.Pro456Ala Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr224Met Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Tyr341Cys Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
Benign 13
- c.1062+35A>G Multiple submitters
- c.122+20G>A Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- c.1270-245C>T Multiple submitters
- c.1398+82G>A Multiple submitters
- c.283-31G>A Multiple submitters
- c.706-167C>T Multiple submitters
- c.750+240G>A Multiple submitters
- p.Ala316= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Gly163= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Lys254= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Arg180Pro Single submitter
- p.Gln512= Single submitter
- p.Thr224= Single submitter
Benign/Likely benign 6
- c.486+7A>G Multiple submitters
- c.751-5dup Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ala452= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Asn329= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ile208Thr Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Pro201= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
Likely benign 60
- c.1063-13G>C Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- c.751-5del Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ala350= Multiple submitters
- p.His100= Multiple submitters
- p.His336= Multiple submitters
- p.Phe293= Multiple submitters Inborn genetic diseases
- p.Phe499= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ser138= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ser298= Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency
- c.1063-13G>A Single submitter
- c.110+6G>A Single submitter
- c.1193-11G>A Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.122+11G>A Single submitter
- c.1270-10C>T Single submitter
- c.1541+11C>T Single submitter
- c.213+13T>C Single submitter
- c.402+14G>C Single submitter
- c.403-13G>A Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.487-14A>G Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.633+11C>G Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.705+15G>A Single submitter
- c.706-11G>A Single submitter
- c.751-4G>T Single submitter
- c.804+20C>T Single submitter
- c.910-14T>G Single submitter
- p.Ala2= Single submitter
- p.Ala232= Single submitter
- p.Ala540= Single submitter
- p.Arg180= Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Gln15= Single submitter
- p.Gln374= Single submitter
- p.Gln413= Single submitter
- p.Glu227Asp Single submitter
- p.Gly177Glu Single submitter Inborn genetic diseases
- p.Gly355= Single submitter
- p.Gly381= Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.His39Arg Single submitter Inborn genetic diseases
- p.Ile192= Single submitter
- p.Ile280= Single submitter
- p.Ile51= Single submitter
- p.Leu165= Single submitter
- p.Leu29= Single submitter
- p.Leu394= Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Pro173= Single submitter
- p.Pro260= Single submitter
- p.Pro311= Single submitter
- p.Pro317= Single submitter
- p.Pro340= Single submitter
- p.Ser176= Single submitter
- p.Ser441= Single submitter
- p.Thr190= Single submitter
- p.Thr309= Single submitter
- p.Thr310= Single submitter
- p.Thr61= Single submitter
- p.Tyr351= Single submitter
- p.Val101= Single submitter
- c.110+6G>T No assertion criteria GPI-related disorder
- c.706-4G>T No assertion criteria GPI-related disorder
- p.Tyr92= No assertion criteria GPI-related disorder
- p.Val491= No assertion criteria GPI-related disorder
Uncertain significance 116
- c.909+5G>A Multiple submitters
- p.Ala350Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala540Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg135His Multiple submitters Inborn genetic diseases ⚠
- p.Arg370His Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg553Cys Multiple submitters Inborn genetic diseases
- p.Arg556Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg6Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg83Trp Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Asp31His Multiple submitters Inborn genetic diseases ⚠
- p.His191Arg Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ile477Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys466Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys550Glu Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ser441Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser532Gly Multiple submitters Inborn genetic diseases ⚠
- p.Thr214Ala Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr309Met Multiple submitters hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr442Met Multiple submitters Inborn genetic diseases ⚠
- p.Val181Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val500Ile Multiple submitters Inborn genetic diseases ⚠
- c.1542-7_1542-6delinsCC Single submitter
- c.634-3C>T Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.866-8T>C Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- c.-9A>G Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ala232Glu Single submitter ⚠
- p.Ala240= Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Ala240Val Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ala316Thr Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ala350Val Single submitter Inborn genetic diseases ⚠
- p.Arg135Cys Single submitter Inborn genetic diseases ⚠
- p.Arg180His Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg273Cys Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg273Gly Single submitter Inborn genetic diseases ⚠
- p.Arg370Cys Single submitter Inborn genetic diseases ⚠
- p.Arg438Thr Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg446Gln Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg81Gln Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg81Trp Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg96Gln Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Arg96Gly Single submitter ⚠
- p.Asn154Ser Single submitter Inborn genetic diseases ⚠
- p.Asn186Ser Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Asn547Ser Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Asp117Tyr Single submitter ⚠
- p.Asp140Asn Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Asp235Glu Single submitter GPI-related disorder ⚠
- p.Asp291Val Single submitter Inborn genetic diseases ⚠
- p.Asp458Asn Single submitter Inborn genetic diseases ⚠
- p.Cys333Tyr Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gln261Glu Single submitter Inborn genetic diseases ⚠
- p.Gln295His Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gln413Arg Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gln552His Single submitter Inborn genetic diseases ⚠
- p.Glu227Val Single submitter Inborn genetic diseases ⚠
- p.Glu294Lys Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Glu444Lys Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Glu495Gly Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Glu516Lys Single submitter ⚠
- p.Glu82Gln Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gly139Ser Single submitter Inborn genetic diseases ⚠
- p.Gly159Ser Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gly361Arg Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gly453Val Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gly49Ala Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Gly95Cys Single submitter Inborn genetic diseases ⚠
- p.His301Tyr Single submitter Inborn genetic diseases ⚠
- p.His389Arg Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.His421Gln Single submitter Inborn genetic diseases ⚠
- p.His538Gln Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ile187Thr Single submitter ⚠
- p.Ile208Val Single submitter Inborn genetic diseases ⚠
- p.Ile219Met Single submitter Inborn genetic diseases ⚠
- p.Ile284Thr Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ile378Val Single submitter ⚠
- p.Ile90Leu Single submitter ⚠
- p.Leu319Val Single submitter Inborn genetic diseases ⚠
- p.Leu4Phe Single submitter Inborn genetic diseases ⚠
- p.Leu529Val Single submitter ⚠
- p.Leu545fs Single submitter hemolytic anemia due to glucophosphate isomerase deficiency
- p.Lys12Gln Single submitter Inborn genetic diseases ⚠
- p.Lys226Arg Single submitter Inborn genetic diseases ⚠
- p.Lys400Arg Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Lys523Thr Single submitter Inborn genetic diseases ⚠
- p.Met338Val Single submitter Inborn genetic diseases ⚠
- p.Met493Ile Single submitter Inborn genetic diseases
- p.Phe213Ile Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Phe40Leu Single submitter ⚠
- p.Pro164Leu Single submitter Inborn genetic diseases ⚠
- p.Pro527Ala Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Pro527Thr Single submitter Inborn genetic diseases ⚠
- p.Ser131Thr Single submitter Inborn genetic diseases ⚠
- p.Ser138Asn Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ser176Leu Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ser283Thr Single submitter ⚠
- p.Ser298Ala Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ser41Gly Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Ser532Thr Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr109Ile Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr190Ile Single submitter ⚠
- p.Thr195Ile Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr215Ile Single submitter Inborn genetic diseases ⚠
- p.Thr365Ile Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Thr474Ala Single submitter ⚠
- p.Thr483Ile Single submitter Inborn genetic diseases ⚠
- p.Thr536Ile Single submitter intellectual disability, autosomal recessive 42 ⚠
- p.Thr61Met Single submitter Inborn genetic diseases ⚠
- p.Trp269Arg Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Trp513Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr174Cys Single submitter Inborn genetic diseases ⚠
- p.Val152Ile Single submitter ⚠
- p.Val253Leu Single submitter Inborn genetic diseases ⚠
- p.Val467Ile Single submitter Inborn genetic diseases ⚠
- p.Val478Ala Single submitter ⚠
- p.Val64Met Single submitter hemolytic anemia due to glucophosphate isomerase deficiency ⚠
- p.Val77Met Single submitter Inborn genetic diseases ⚠