ERO1A — 45 ClinVar variants
All ClinVar germline ERO1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Benign · 41 Uncertain significance
Full ERO1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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.
- ERO1A p.Ala116Val Uncertain significance Single submitter
- ERO1A p.Ala314Thr Uncertain significance Single submitter
- ERO1A p.Ala31Gly Uncertain significance Single submitter
- ERO1A p.Arg187Cys Uncertain significance Single submitter
- ERO1A p.Arg398Cys Uncertain significance Single submitter
- ERO1A p.Arg55Ser Uncertain significance Single submitter
- ERO1A p.Asn384Ser Uncertain significance Single submitter
- ERO1A p.Asp326Glu Uncertain significance Single submitter
- ERO1A p.Asp367Asn Uncertain significance Single submitter
- ERO1A p.Asp390Gly Uncertain significance Single submitter
- ERO1A p.Gln105Pro Uncertain significance Single submitter
- ERO1A p.Gln172Glu Uncertain significance Single submitter
- ERO1A p.Gln26Arg Uncertain significance Single submitter
- ERO1A p.Gln33His Uncertain significance Single submitter
- ERO1A p.Glu323Lys Uncertain significance Single submitter
- ERO1A p.Glu360Gly Uncertain significance Single submitter
- ERO1A p.Gly239Asp Uncertain significance Single submitter
- ERO1A p.Gly4Ser Uncertain significance Single submitter
- ERO1A p.Ile128Thr Uncertain significance Single submitter
- ERO1A p.Ile203Met Uncertain significance Single submitter
- ERO1A p.Leu17Val Uncertain significance Single submitter
- ERO1A p.Leu240Val Uncertain significance Single submitter
- ERO1A p.Lys373Arg Uncertain significance Single submitter
- ERO1A p.Lys419Asn Uncertain significance Single submitter
- ERO1A p.Pro103Thr Uncertain significance Single submitter
- ERO1A p.Ser173Ala Uncertain significance Single submitter
- ERO1A p.Trp16Ser Uncertain significance Single submitter
- ERO1A p.Tyr59His Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ERO1A p.Ala256Thr Uncertain significance Single submitter
- ERO1A p.Arg216Thr Uncertain significance Single submitter
- ERO1A p.Arg324Leu Uncertain significance Single submitter
- ERO1A p.Asn445Ser Uncertain significance Single submitter
- ERO1A p.Asp111Gly Uncertain significance Single submitter
- ERO1A p.Gln336His Uncertain significance Single submitter
- ERO1A p.Glu205Lys Uncertain significance Single submitter
- ERO1A p.Gly23Arg Uncertain significance Single submitter
- ERO1A p.Gly290Val Uncertain significance Single submitter
- ERO1A p.Ile251Val Uncertain significance Single submitter
- ERO1A p.Ile351Met Uncertain significance Single submitter
- ERO1A p.Leu240Phe Uncertain significance Single submitter
- ERO1A p.Lys78Glu Uncertain significance Single submitter
All ERO1A variants
Benign 4
- p.Ser430= Multiple submitters
- c.435-5T>C Single submitter
- c.716-7T>G Single submitter
- p.Glu230= Single submitter
Uncertain significance 41
- p.Ala116Val Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala314Thr Single submitter ⚠
- p.Ala31Gly Single submitter ⚠
- p.Arg187Cys Single submitter ⚠
- p.Arg216Thr Single submitter ⚠
- p.Arg324Leu Single submitter ⚠
- p.Arg398Cys Single submitter ⚠
- p.Arg55Ser Single submitter ⚠
- p.Asn384Ser Single submitter ⚠
- p.Asn445Ser Single submitter ⚠
- p.Asp111Gly Single submitter ⚠
- p.Asp326Glu Single submitter ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp390Gly Single submitter ⚠
- p.Gln105Pro Single submitter ⚠
- p.Gln172Glu Single submitter ⚠
- p.Gln26Arg Single submitter ⚠
- p.Gln336His Single submitter ⚠
- p.Gln33His Single submitter ⚠
- p.Glu205Lys Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu360Gly Single submitter ⚠
- p.Gly239Asp Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly290Val Single submitter ⚠
- p.Gly4Ser Single submitter ⚠
- p.Ile128Thr Single submitter ⚠
- p.Ile203Met Single submitter ⚠
- p.Ile251Val Single submitter ⚠
- p.Ile351Met Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu240Phe Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Lys373Arg Single submitter ⚠
- p.Lys419Asn Single submitter ⚠
- p.Lys78Glu Single submitter ⚠
- p.Pro103Thr Single submitter ⚠
- p.Ser173Ala Single submitter ⚠
- p.Trp16Ser Single submitter ⚠
- p.Tyr59His Single submitter ⚠