Sugi Variant

Sugi Variant/TPK1

TPK1 — 291 ClinVar variants

All ClinVar germline TPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

15 Pathogenic · 4 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 7 Conflicting · 27 Benign · 4 Benign/Likely benign · 110 Likely benign · 115 Uncertain significance

Full TPK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 104

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 3

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 25

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

All TPK1 variants

Pathogenic 15

  • c.501+4A>T Multiple submitters TPK1-related disorder
  • p.Leu142Phe Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.355-2A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.613+1G>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Cys104fs Single submitter
  • p.Glu61fs Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Glu81fs Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Gly189Ter Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu64fs Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Met136fs Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Met1Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Trp36Ter Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.614-1G>A No assertion criteria childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asn50His No assertion criteria childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Phe132Ser No assertion criteria childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Pathogenic/Likely pathogenic 4

  • c.185+1G>A Multiple submitters TPK1-related disorder
  • c.44-2A>G Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asp222His Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Tyr82Ter Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Likely pathogenic 9

  • c.115+1G>T Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.116-2A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+1G>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Arg60fs Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Cys192Trp Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Gly48Val Single submitter
  • p.His173fs Single submitter
  • p.Ile75Asn Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Pro7Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Conflicting classifications of pathogenicity 7

  • c.44-3T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asn219Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn69Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Asp207Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile122Thr Single submitter Inborn genetic diseases ⚠
  • p.Leu128Phe Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu40Pro Single submitter Inborn genetic diseases

Benign 27

Benign/Likely benign 4

  • c.614-13del Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Arg33His Multiple submitters Inborn genetic diseases
  • p.Ile122= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Tyr221= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Likely benign 110

  • c.116-49T>C Multiple submitters
  • c.186-19T>C Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+103T>C Multiple submitters
  • c.355-4T>G Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+96C>T Multiple submitters
  • c.614-19T>C Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ala45= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asp207= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asp222= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu41= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Tyr163= Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.115+15C>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.115+15C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.116-10C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.116-11del Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.116-224dup Single submitter
  • c.116-6T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.116-8A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.185+12T>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.185+13T>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.185+17T>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.185+20A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.186-13C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.186-17C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.186-19del Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.186-7C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.258+12del Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.258+14A>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.258+15T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.258+19T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.258+20T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.258+7T>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.259-14A>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.259-16T>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+12A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+13T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+20G>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+48T>A Single submitter
  • c.354+8A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+9T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+9T>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.355-15A>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.355-20G>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.355-4T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.355-7T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.43+12C>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.43+15T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.43+41C>T Single submitter
  • c.44-12_44-5del Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.44-4C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.44-9T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+12G>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+14G>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+16A>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+7C>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+9A>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.502-9C>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.613+17376G>A Single submitter
  • c.613+8G>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.614-11T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.614-15C>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.614-18T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.614-7C>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.-22dup Single submitter
  • p.Ala145= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Arg60= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asn219= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asp29= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asp46= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Glu59= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Gly184= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Gly223= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.His3= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ile153= Single submitter
  • p.Ile155= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ile162= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ile68= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu11= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu117= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu185= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu21= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu214= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu24= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu28= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu52= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu8= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Leu90= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Lys103= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Lys169= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Lys18= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Lys201= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Phe101= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Pro10= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Pro77= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ser138= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ser160= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ser224= Single submitter
  • p.Thr176= Single submitter
  • p.Thr213= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Thr56= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Tyr82= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Val188= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Val208= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Val215= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Val22= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Val229= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.185+15071T>C No assertion criteria TPK1-related disorder
  • c.185+15109C>T No assertion criteria TPK1-related disorder
  • c.613+17398T>A No assertion criteria TPK1-related disorder
  • c.613+17432G>A No assertion criteria TPK1-related disorder

Uncertain significance 115

  • p.Ala43Thr Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg33Cys Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg51His Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg80Lys Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Asp222Asn Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Asp46Asn Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Glu113Lys Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Glu179Gln Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Glu57Lys Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile155Val Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu164Pro Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu236Val Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu8Met Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Lys111Asn Multiple submitters Inborn genetic diseases
  • p.Pro234Gln Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Pro7Leu Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Thr102Ser Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Tyr31Ser Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Tyr53His Multiple submitters childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Val226Asp Multiple submitters Inborn genetic diseases ⚠
  • c.115+6C>G Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.259-3T>C Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.354+4A>G Single submitter Inborn genetic diseases
  • c.43+20G>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.43+6G>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.501+5G>A Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • c.502-3C>T Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Ala129Thr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ala145Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ala4Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ala4Thr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ala84Thr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg131His Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg131Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg171Thr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg33Pro Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg51Cys Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg51Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Arg51Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg51Ser Single submitter ⚠
  • p.Asn219Lys Single submitter ⚠
  • p.Asn25Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Asn30His Single submitter Inborn genetic diseases ⚠
  • p.Asn37Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn69Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp222dup Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Asp29Gly Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Asp46Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Asp54del Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Cys192Tyr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Cys88Tyr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Glu66Lys Single submitter ⚠
  • p.Gly177Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Gly180Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Gly189Glu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Gly223Arg Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Gly223Trp Single submitter ⚠
  • p.Gly58= Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Gly87Arg Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.His147Asp Single submitter Inborn genetic diseases ⚠
  • p.His147Gln Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.His170Gln Single submitter ⚠
  • p.His173Pro Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.His98Pro Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile112Thr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile112Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile135Thr Single submitter ⚠
  • p.Ile148Met Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile148Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile162Phe Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile55Asn Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile55Thr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile68Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile75Phe Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ile75Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu142Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu161Gln Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu17Met Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu21Phe Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu235Pro Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Leu40Val Single submitter ⚠
  • p.Lys118Asn Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Lys18Arg Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Met178Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Met239Val Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Phe132Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Phe143Tyr Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Phe5Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Pro150Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro187Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Pro234Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Pro27Ser Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Pro65Ser Single submitter ⚠
  • p.Pro77Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ser160Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Ser216Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser243Arg Single submitter ⚠
  • p.Thr124Ile Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Thr146Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr14Ala Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Thr198Ile Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Thr205Ile Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Thr220Ala Single submitter ⚠
  • p.Thr6Ile Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Thr93Pro Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Thr99Ile Single submitter Inborn genetic diseases ⚠
  • p.Trp182Cys Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Tyr163Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr19Cys Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Tyr221Cys Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Tyr31Cys Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Tyr53Cys Single submitter Inborn genetic diseases ⚠
  • p.Val188Leu Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠
  • p.Val188Phe Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • p.Val226Ile Single submitter childhood encephalopathy due to thiamine pyrophosphokinase deficiency ⚠