PDIA6 — 70 ClinVar variants
All ClinVar germline PDIA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 4 Likely benign · 63 Uncertain significance
Full PDIA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDIA6 p.Ala348Thr Uncertain significance Single submitter
- PDIA6 p.Ala364Ser Uncertain significance Single submitter
- PDIA6 p.Ala364Val Uncertain significance Single submitter
- PDIA6 p.Arg132Gly Uncertain significance Single submitter
- PDIA6 p.Arg142Gln Uncertain significance Single submitter
- PDIA6 p.Arg153Gly Uncertain significance Single submitter
- PDIA6 p.Arg409Ser Uncertain significance Single submitter
- PDIA6 p.Asn283Asp Uncertain significance Single submitter
- PDIA6 p.Asn36Ser Uncertain significance Single submitter
- PDIA6 p.Asn382Ser Uncertain significance Single submitter
- PDIA6 p.Asp253Glu Uncertain significance Single submitter
- PDIA6 p.Asp413Ala Uncertain significance Single submitter
- PDIA6 p.Glu112Asp Uncertain significance Single submitter
- PDIA6 p.Glu164Asp Uncertain significance Single submitter
- PDIA6 p.Glu247Lys Uncertain significance Single submitter
- PDIA6 p.Glu284Lys Uncertain significance Single submitter
- PDIA6 p.Glu410Ala Uncertain significance Single submitter
- PDIA6 p.Glu49Lys Uncertain significance Single submitter
- PDIA6 p.Gly120Asp Uncertain significance Single submitter
- PDIA6 p.Gly144Arg Uncertain significance Single submitter
- PDIA6 p.Gly145Arg Uncertain significance Single submitter
- PDIA6 p.Gly236Glu Uncertain significance Single submitter
- PDIA6 p.Gly352Val Uncertain significance Single submitter
- PDIA6 p.Gly400Arg Uncertain significance Single submitter
- PDIA6 p.Gly414Ser Uncertain significance Single submitter
- PDIA6 p.His86Tyr Uncertain significance Single submitter
- PDIA6 p.Ile163Val Uncertain significance Single submitter
- PDIA6 p.Ile234Met Uncertain significance Single submitter
- PDIA6 p.Ile240Asn Uncertain significance Single submitter
- PDIA6 p.Ile282Ser Uncertain significance Single submitter
- PDIA6 p.Leu139Val Uncertain significance Single submitter
- PDIA6 p.Leu175Val Uncertain significance Single submitter
- PDIA6 p.Leu335Gln Uncertain significance Single submitter
- PDIA6 p.Met331Ile Uncertain significance Single submitter
- PDIA6 p.Pro188Ser Uncertain significance Single submitter
- PDIA6 p.Pro303Ala Uncertain significance Single submitter
- PDIA6 p.Pro397Ser Uncertain significance Single submitter
- PDIA6 p.Ser22Thr Uncertain significance Single submitter
- PDIA6 p.Ser394Phe Uncertain significance Single submitter
- PDIA6 p.Tyr316Cys Uncertain significance Single submitter
- PDIA6 p.Val135Met Uncertain significance Single submitter
- PDIA6 p.Val207Ile Uncertain significance Single submitter
- PDIA6 p.Val262Leu Uncertain significance Single submitter
- PDIA6 p.Val299Leu Uncertain significance Single submitter
- PDIA6 p.Val407Ile Uncertain significance Single submitter
- PDIA6 p.Val407Leu Uncertain significance Single submitter
- PDIA6 p.Val407Phe Uncertain significance Single submitter
- PDIA6 p.Val421Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PDIA6 p.Arg132Cys Uncertain significance Single submitter
- PDIA6 p.Arg138His Uncertain significance Single submitter
- PDIA6 p.Arg365His Uncertain significance Single submitter
- PDIA6 p.Glu209Gly Uncertain significance Single submitter
- PDIA6 p.Glu344Lys Uncertain significance Single submitter
- PDIA6 p.Gly374Ala Uncertain significance Single submitter
- PDIA6 p.Pro274Leu Uncertain significance Single submitter
- PDIA6 p.Ser270Cys Uncertain significance Single submitter
All PDIA6 variants
Pathogenic 1
- p.Trp189Ter Single submitter
Likely pathogenic 2
- c.831_840+13del Single submitter
- p.Arg235fs Single submitter
Likely benign 4
- c.347-12C>T Single submitter
- c.700-94_700-92del Single submitter
- c.998+127_998+128dup Single submitter
- p.Tyr232= Single submitter
Uncertain significance 63
- p.Ala348Thr Single submitter ⚠
- p.Ala364Ser Single submitter ⚠
- p.Ala364Val Single submitter ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg132Gly Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg142Gln Single submitter ⚠
- p.Arg153Gly Single submitter ⚠
- p.Arg365His Single submitter ⚠
- p.Arg409Ser Single submitter ⚠
- p.Asn283Asp Single submitter ⚠
- p.Asn36Ser Single submitter ⚠
- p.Asn382Ser Single submitter ⚠
- p.Asp167Asn Single submitter
- p.Asp253Glu Single submitter ⚠
- p.Asp413Ala Single submitter ⚠
- p.Gln96fs Single submitter
- p.Glu112Asp Single submitter ⚠
- p.Glu164Asp Single submitter ⚠
- p.Glu209Gly Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu284Lys Single submitter ⚠
- p.Glu344Lys Single submitter ⚠
- p.Glu410Ala Single submitter ⚠
- p.Glu49Lys Single submitter ⚠
- p.Gly120Asp Single submitter ⚠
- p.Gly144Arg Single submitter ⚠
- p.Gly145Arg Single submitter ⚠
- p.Gly233Arg Single submitter
- p.Gly236Glu Single submitter ⚠
- p.Gly352Val Single submitter ⚠
- p.Gly374Ala Single submitter ⚠
- p.Gly400Arg Single submitter ⚠
- p.Gly414Ser Single submitter ⚠
- p.His86Tyr Single submitter ⚠
- p.Ile163Val Single submitter ⚠
- p.Ile234Met Single submitter ⚠
- p.Ile240Asn Single submitter ⚠
- p.Ile282Ser Single submitter ⚠
- p.Leu139Val Single submitter ⚠
- p.Leu175Val Single submitter ⚠
- p.Leu335Gln Single submitter ⚠
- p.Met331Ile Single submitter ⚠
- p.Pro188Ser Single submitter ⚠
- p.Pro274Leu Single submitter ⚠
- p.Pro303Ala Single submitter ⚠
- p.Pro397Ser Single submitter ⚠
- p.Pro53Ala Single submitter
- p.Ser22Thr Single submitter ⚠
- p.Ser270Cys Single submitter ⚠
- p.Ser394Phe Single submitter ⚠
- p.Thr211Met Single submitter
- p.Tyr316Cys Single submitter ⚠
- p.Val135Met Single submitter ⚠
- p.Val207Ile Single submitter ⚠
- p.Val262Leu Single submitter ⚠
- p.Val299Leu Single submitter ⚠
- p.Val301Met Single submitter
- p.Val407Ile Single submitter ⚠
- p.Val407Leu Single submitter ⚠
- p.Val407Phe Single submitter ⚠
- p.Val421Ala Single submitter ⚠
- p.Val183fs No assertion criteria