TPI1 — 172 ClinVar variants
All ClinVar germline TPI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 9 Conflicting · 9 Benign · 3 Benign/Likely benign · 59 Likely benign · 79 Uncertain significance
Full TPI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TPI1 p.Val155Met
Conflicting
Single submitter
triosephosphate isomerase deficiency
Predictors lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TPI1 p.Ala200Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TPI1 p.Arg206Cys Uncertain significance Multiple submitters
-
TPI1 p.Arg206His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPI1 p.Arg53Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPI1 p.Asn246Ser
Uncertain significance
Multiple submitters
triosephosphate isomerase deficiency
-
TPI1 p.Gly17Arg
Uncertain significance
Multiple submitters
triosephosphate isomerase deficiency
-
TPI1 p.Pro3Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPI1 p.Val150Phe
Uncertain significance
Multiple submitters
triosephosphate isomerase deficiency
- TPI1 p.Ala126Ser Uncertain significance Single submitter
- TPI1 p.Ala126Thr Uncertain significance Single submitter
-
TPI1 p.Ala137Pro
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Ala164Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Ala43Val
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Ala52Thr Uncertain significance Single submitter
-
TPI1 p.Arg18Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Arg190Gln
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Arg53Gln
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Cys218Arg
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Glu98Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Gly11Ala
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Gly234Ser Uncertain significance Single submitter
-
TPI1 p.Gly23Ala
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Ile128Thr
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Leu25Phe Uncertain significance Single submitter
-
TPI1 p.Lys160Glu
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Lys248Arg Uncertain significance Single submitter
-
TPI1 p.Phe241Leu
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Pro35Ala Uncertain significance Single submitter
-
TPI1 p.Pro44Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TPI1 p.Ser198Phe Uncertain significance Single submitter
-
TPI1 p.Ser223Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Thr76Ser
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Trp13Arg
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Val114Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Val232Met
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Val34Leu Uncertain significance Single submitter
-
TPI1 p.Val41Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Val62Ala
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Met83Thr
Uncertain significance
No assertion criteria
TPI1-related disorder
Predictors split 20
The independent predictors disagree with each other — read with care.
-
TPI1 p.Ile244Val
Uncertain significance
Multiple submitters
triosephosphate isomerase deficiency
-
TPI1 p.Phe145Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPI1 p.Ala61Val
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Ala89Thr Uncertain significance Single submitter
- TPI1 p.Gly123Arg Uncertain significance Single submitter
-
TPI1 p.Gly233Ala
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Gly27Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Ile151Met
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Lys142Asn Uncertain significance Single submitter
-
TPI1 p.Lys142Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Lys142Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TPI1 p.Lys238Arg Uncertain significance Single submitter
- TPI1 p.Phe145Ile Uncertain significance Single submitter
-
TPI1 p.Pro225Thr
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Thr217Ala
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
-
TPI1 p.Thr38Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Thr90Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPI1 p.Val124Ile
Uncertain significance
Single submitter
triosephosphate isomerase deficiency
- TPI1 p.Val162Ile Uncertain significance Single submitter
-
TPI1 p.Cys42Tyr
Pathogenic
No assertion criteria
triosephosphate isomerase deficiency
All TPI1 variants
Pathogenic 6
- p.Gly123fs Single submitter
- p.Asn12fs No assertion criteria triosephosphate isomerase deficiency
- p.Cys42Tyr No assertion criteria triosephosphate isomerase deficiency ⚠
- p.Glu146Ter No assertion criteria triosephosphate isomerase deficiency
- p.Ile171Val No assertion criteria triosephosphate isomerase deficiency
- p.Phe241Ser No assertion criteria triosephosphate isomerase deficiency
Pathogenic/Likely pathogenic 1
- p.Glu105Asp Multiple submitters TPI1-related disorder
Likely pathogenic 6
- c.324+1G>C Single submitter
- c.544-1G>C Single submitter triosephosphate isomerase deficiency
- p.Arg5Gly Single submitter TPI1-related disorder
- p.Gly11fs Single submitter triosephosphate isomerase deficiency
- p.Gly73Ala Single submitter
- p.Ile151fs Single submitter TPI1-related disorder
Conflicting classifications of pathogenicity 9
- c.239+8C>A Single submitter triosephosphate isomerase deficiency
- c.458-18del Single submitter triosephosphate isomerase deficiency
- c.543+5C>G Single submitter triosephosphate isomerase deficiency
- c.-29C>G Single submitter triosephosphate isomerase deficiency
- p.Ala64= Single submitter triosephosphate isomerase deficiency
- p.Cys87= Single submitter triosephosphate isomerase deficiency
- p.His186= Single submitter triosephosphate isomerase deficiency
- p.Leu122= Single submitter triosephosphate isomerase deficiency
- p.Val155Met Single submitter triosephosphate isomerase deficiency ⚠
Benign 9
- c.543+73G>A Multiple submitters
- c.544-10C>G Multiple submitters triosephosphate isomerase deficiency
- c.544-14G>A Multiple submitters triosephosphate isomerase deficiency
- c.631+13G>A Multiple submitters triosephosphate isomerase deficiency
- c.*341C>T Multiple submitters triosephosphate isomerase deficiency
- c.*420T>C Multiple submitters triosephosphate isomerase deficiency
- p.Asp107= Multiple submitters triosephosphate isomerase deficiency
- c.*388C>T Single submitter triosephosphate isomerase deficiency
- c.*39G>A Single submitter triosephosphate isomerase deficiency
Benign/Likely benign 3
- c.116-12T>C Multiple submitters triosephosphate isomerase deficiency
- c.116-13A>G Multiple submitters triosephosphate isomerase deficiency
- p.Ala200= Multiple submitters triosephosphate isomerase deficiency
Likely benign 59
- c.325-12_325-11del Multiple submitters triosephosphate isomerase deficiency
- c.457+7C>G Multiple submitters triosephosphate isomerase deficiency
- c.458-9del Multiple submitters
- c.631+17C>G Multiple submitters triosephosphate isomerase deficiency
- c.631+19C>T Multiple submitters
- p.Ser212= Multiple submitters
- c.115+13C>T Single submitter
- c.115+9T>G Single submitter
- c.239+20G>A Single submitter
- c.239+8C>T Single submitter
- c.239+9G>C Single submitter
- c.240-20G>A Single submitter
- c.324+13G>T Single submitter
- c.325-12G>A Single submitter
- c.325-17A>G Single submitter
- c.458-11C>T Single submitter
- c.458-5T>C Single submitter
- c.458-7C>T Single submitter
- c.543+11C>T Single submitter
- c.543+15_543+17del Single submitter
- c.543+19C>G Single submitter
- c.543+7G>A Single submitter
- c.544-4C>G Single submitter
- c.631+13G>T Single submitter
- c.631+14G>A Single submitter
- c.631+20G>A Single submitter
- c.632-12C>T Single submitter
- c.632-13G>C Single submitter
- c.-31C>T Single submitter triosephosphate isomerase deficiency
- c.-4C>T Single submitter
- c.*178G>A Single submitter triosephosphate isomerase deficiency
- c.*519T>C Single submitter triosephosphate isomerase deficiency
- c.*549A>G Single submitter triosephosphate isomerase deficiency
- p.Ala2= Single submitter
- p.Ala222= Single submitter
- p.Ala31= Single submitter
- p.Asn154= Single submitter
- p.Asn196= Single submitter
- p.Gly233= Single submitter
- p.His96= Single submitter
- p.Ile151= Single submitter
- p.Leu109= Single submitter
- p.Lys14= Single submitter
- p.Lys238= Single submitter
- p.Phe103= Single submitter
- p.Phe145= Single submitter
- p.Phe230= Single submitter triosephosphate isomerase deficiency
- p.Phe241= Single submitter
- p.Phe7= Single submitter
- p.Pro239= Single submitter
- p.Pro3= Single submitter
- p.Ser21= Single submitter
- p.Ser4= Single submitter
- p.Thr176= Single submitter
- p.Thr71= Single submitter
- p.Tyr68= Single submitter
- p.Val114= Single submitter
- p.Val93= Single submitter
- p.Ile139= No assertion criteria TPI1-related disorder
Uncertain significance 79
- c.543+6C>T Multiple submitters triosephosphate isomerase deficiency
- c.-11G>A Multiple submitters triosephosphate isomerase deficiency
- p.Ala200Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg206Cys Multiple submitters ⚠
- p.Arg206His Multiple submitters Inborn genetic diseases ⚠
- p.Arg53Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn246Ser Multiple submitters triosephosphate isomerase deficiency ⚠
- p.Gly17Arg Multiple submitters triosephosphate isomerase deficiency ⚠
- p.Ile244Val Multiple submitters triosephosphate isomerase deficiency ⚠
- p.Met1Val Multiple submitters triosephosphate isomerase deficiency
- p.Phe145Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro3Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr205Ser Multiple submitters Inborn genetic diseases
- p.Val150Phe Multiple submitters triosephosphate isomerase deficiency ⚠
- c.324+2T>C Single submitter triosephosphate isomerase deficiency
- c.-29C>T Single submitter triosephosphate isomerase deficiency
- c.-30A>G Single submitter
- c.*134C>A Single submitter triosephosphate isomerase deficiency
- c.*173G>A Single submitter triosephosphate isomerase deficiency
- c.*219C>T Single submitter triosephosphate isomerase deficiency
- c.*239C>T Single submitter triosephosphate isomerase deficiency
- c.*253G>T Single submitter triosephosphate isomerase deficiency
- c.*260G>A Single submitter triosephosphate isomerase deficiency
- c.*520T>C Single submitter triosephosphate isomerase deficiency
- c.*541dup Single submitter
- c.*69C>T Single submitter triosephosphate isomerase deficiency
- p.Ala126Ser Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala137Pro Single submitter triosephosphate isomerase deficiency ⚠
- p.Ala164Asp Single submitter Inborn genetic diseases ⚠
- p.Ala43Val Single submitter triosephosphate isomerase deficiency ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala61Val Single submitter triosephosphate isomerase deficiency ⚠
- p.Ala89Thr Single submitter ⚠
- p.Arg18Gly Single submitter Inborn genetic diseases ⚠
- p.Arg190Gln Single submitter triosephosphate isomerase deficiency ⚠
- p.Arg53Gln Single submitter triosephosphate isomerase deficiency ⚠
- p.Cys218Arg Single submitter triosephosphate isomerase deficiency ⚠
- p.Glu98Lys Single submitter Inborn genetic diseases ⚠
- p.Gly11Ala Single submitter triosephosphate isomerase deficiency ⚠
- p.Gly123Arg Single submitter ⚠
- p.Gly233Ala Single submitter triosephosphate isomerase deficiency ⚠
- p.Gly234Ser Single submitter ⚠
- p.Gly23Ala Single submitter triosephosphate isomerase deficiency ⚠
- p.Gly27Arg Single submitter Inborn genetic diseases ⚠
- p.Ile128Thr Single submitter triosephosphate isomerase deficiency ⚠
- p.Ile151Met Single submitter triosephosphate isomerase deficiency ⚠
- p.Leu25Phe Single submitter ⚠
- p.Lys142Asn Single submitter ⚠
- p.Lys142Glu Single submitter Inborn genetic diseases ⚠
- p.Lys142Met Single submitter Inborn genetic diseases ⚠
- p.Lys156del Single submitter triosephosphate isomerase deficiency
- p.Lys160Glu Single submitter triosephosphate isomerase deficiency ⚠
- p.Lys188Asn Single submitter
- p.Lys238Arg Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Lys248fs Single submitter
- p.Phe145Ile Single submitter ⚠
- p.Phe241Leu Single submitter triosephosphate isomerase deficiency ⚠
- p.Pro225Thr Single submitter triosephosphate isomerase deficiency ⚠
- p.Pro35Ala Single submitter ⚠
- p.Pro44Ser Single submitter Inborn genetic diseases ⚠
- p.Ser159Arg Single submitter Inborn genetic diseases
- p.Ser198Phe Single submitter ⚠
- p.Ser223Arg Single submitter
- p.Ser223Gly Single submitter Inborn genetic diseases ⚠
- p.Thr217Ala Single submitter triosephosphate isomerase deficiency ⚠
- p.Thr38Ala Single submitter Inborn genetic diseases ⚠
- p.Thr76Ser Single submitter triosephosphate isomerase deficiency ⚠
- p.Thr90Met Single submitter Inborn genetic diseases ⚠
- p.Trp13Arg Single submitter triosephosphate isomerase deficiency ⚠
- p.Val114Met Single submitter Inborn genetic diseases ⚠
- p.Val124Ile Single submitter triosephosphate isomerase deficiency ⚠
- p.Val162Ile Single submitter ⚠
- p.Val232Met Single submitter triosephosphate isomerase deficiency ⚠
- p.Val34Leu Single submitter ⚠
- p.Val41Phe Single submitter Inborn genetic diseases ⚠
- p.Val62Ala Single submitter triosephosphate isomerase deficiency ⚠
- p.Met83Thr No assertion criteria TPI1-related disorder ⚠