TXN2 — 70 ClinVar variants
All ClinVar germline TXN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Pathogenic · 5 Benign · 1 Benign/Likely benign · 23 Likely benign · 40 Uncertain significance
Full TXN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TXN2 p.Ile126Val
Uncertain significance
Multiple submitters
combined oxidative phosphorylation deficiency 29
- TXN2 p.Ile165Thr Uncertain significance Multiple submitters
- TXN2 p.Pro98Leu Uncertain significance Multiple submitters
- TXN2 p.Ser29Cys Uncertain significance Multiple submitters
- TXN2 p.Ala105Ser Uncertain significance Single submitter
- TXN2 p.Ala125Thr Uncertain significance Single submitter
- TXN2 p.Ala12Val Uncertain significance Single submitter
- TXN2 p.Arg17Thr Uncertain significance Single submitter
- TXN2 p.Arg50Gln Uncertain significance Single submitter
- TXN2 p.Arg56Lys Uncertain significance Single submitter
- TXN2 p.Asn47Thr Uncertain significance Single submitter
- TXN2 p.Cys93Trp Uncertain significance Single submitter
- TXN2 p.Gln23Pro Uncertain significance Single submitter
- TXN2 p.Gly166Ser Uncertain significance Single submitter
- TXN2 p.Gly40Ala Uncertain significance Single submitter
- TXN2 p.Gly41Ser Uncertain significance Single submitter
- TXN2 p.Ile52Val Uncertain significance Single submitter
- TXN2 p.Lys18Arg Uncertain significance Single submitter
- TXN2 p.Met103Val Uncertain significance Single submitter
- TXN2 p.Phe10Leu Uncertain significance Single submitter
- TXN2 p.Pro35Ala Uncertain significance Single submitter
- TXN2 p.Pro46Thr Uncertain significance Single submitter
- TXN2 p.Pro80Ser Uncertain significance Single submitter
- TXN2 p.Ser13Cys Uncertain significance Single submitter
- TXN2 p.Tyr53His Uncertain significance Single submitter
- TXN2 p.Val112Leu Uncertain significance Single submitter
- TXN2 p.Val75Ile Uncertain significance Single submitter
- TXN2 p.Val81Glu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- TXN2 p.Ala2Val Uncertain significance Single submitter
- TXN2 p.Asp117Asn Uncertain significance Single submitter
- TXN2 p.Asp146Glu Uncertain significance Single submitter
- TXN2 p.Lys115Arg Uncertain significance Single submitter
- TXN2 p.Thr55Met Uncertain significance Single submitter
- TXN2 p.Val149Leu Uncertain significance Single submitter
All TXN2 variants
Pathogenic 1
- p.Trp24Ter No assertion criteria combined oxidative phosphorylation deficiency 29
Benign 5
- c.387+30A>C Multiple submitters combined oxidative phosphorylation deficiency 29
- c.388-99C>A Multiple submitters
- p.Leu11= Multiple submitters
- c.1-174T>C Single submitter
- c.*173AG[1] Single submitter
Benign/Likely benign 1
- p.Pro98= Multiple submitters combined oxidative phosphorylation deficiency 29
Likely benign 23
- p.Ala87= Multiple submitters
- c.264-10_264-9delinsCT Single submitter
- c.264-10G>A Single submitter
- c.264-11C>T Single submitter
- c.387+8T>C Single submitter
- c.388-15G>A Single submitter
- p.Ala12= Single submitter
- p.Arg30= Single submitter
- p.Arg8= Single submitter
- p.Asp119= Single submitter
- p.Asp143= Single submitter
- p.Gln36= Single submitter
- p.Glu101= Single submitter
- p.Gly166= Single submitter
- p.Gly97= Single submitter
- p.His108= Single submitter
- p.His86= Single submitter
- p.Ile52Met Single submitter
- p.Leu137= Single submitter
- p.Leu157= Single submitter
- p.Lys115= Single submitter
- p.Phe160= Single submitter
- p.Thr55= Single submitter
Uncertain significance 40
- p.Ile126Val Multiple submitters combined oxidative phosphorylation deficiency 29 ⚠
- p.Ile165Thr Multiple submitters ⚠
- p.Pro98Leu Multiple submitters ⚠
- p.Ser29Cys Multiple submitters ⚠
- c.263+5G>T Single submitter
- c.388-1G>A Single submitter
- p.Ala105Ser Single submitter ⚠
- p.Ala125Thr Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg17Thr Single submitter ⚠
- p.Arg50Gln Single submitter ⚠
- p.Arg56Lys Single submitter ⚠
- p.Asn47Thr Single submitter ⚠
- p.Asp117Asn Single submitter ⚠
- p.Asp146Glu Single submitter ⚠
- p.Cys93Trp Single submitter ⚠
- p.Gln23Pro Single submitter ⚠
- p.Gln36Ter Single submitter
- p.Gly166Ser Single submitter ⚠
- p.Gly40Ala Single submitter ⚠
- p.Gly41Ser Single submitter ⚠
- p.Ile52Val Single submitter ⚠
- p.Leu7del Single submitter
- p.Lys115Arg Single submitter ⚠
- p.Lys18Arg Single submitter ⚠
- p.Met103Val Single submitter ⚠
- p.Phe10Leu Single submitter ⚠
- p.Pro35Ala Single submitter ⚠
- p.Pro46Thr Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Ser13Cys Single submitter ⚠
- p.Ter167Cys Single submitter
- p.Thr55Met Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Val112Leu Single submitter ⚠
- p.Val149Leu Single submitter ⚠
- p.Val44Leu Single submitter
- p.Val75Ile Single submitter ⚠
- p.Val81Glu Single submitter ⚠