EDEM1 — 91 ClinVar variants
All ClinVar germline EDEM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
3 Likely benign · 88 Uncertain significance
Full EDEM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDEM1 p.Ala128Ser Uncertain significance Single submitter
- EDEM1 p.Ala274Thr Uncertain significance Single submitter
- EDEM1 p.Ala304Val Uncertain significance Single submitter
- EDEM1 p.Ala409Ser Uncertain significance Single submitter
- EDEM1 p.Ala53Thr Uncertain significance Single submitter
- EDEM1 p.Ala5Ser Uncertain significance Single submitter
- EDEM1 p.Ala80Ser Uncertain significance Single submitter
- EDEM1 p.Ala86Pro Uncertain significance Single submitter
- EDEM1 p.Ala98Gly Uncertain significance Single submitter
- EDEM1 p.Arg107Pro Uncertain significance Single submitter
- EDEM1 p.Arg167Gly Uncertain significance Single submitter
- EDEM1 p.Arg270Trp Uncertain significance Single submitter
- EDEM1 p.Arg286Trp Uncertain significance Single submitter
- EDEM1 p.Arg45Cys Uncertain significance Single submitter
- EDEM1 p.Arg45Ser Uncertain significance Single submitter
- EDEM1 p.Arg468Gln Uncertain significance Single submitter
- EDEM1 p.Arg545Trp Uncertain significance Single submitter
- EDEM1 p.Asn156Ser Uncertain significance Single submitter
- EDEM1 p.Asn298Ser Uncertain significance Single submitter
- EDEM1 p.Asp166Tyr Uncertain significance Single submitter
- EDEM1 p.Asp539Glu Uncertain significance Single submitter
- EDEM1 p.Gln125Lys Uncertain significance Single submitter
- EDEM1 p.Glu115Lys Uncertain significance Single submitter
- EDEM1 p.Glu312Ala Uncertain significance Single submitter
- EDEM1 p.Gly105Ser Uncertain significance Single submitter
- EDEM1 p.Gly120Cys Uncertain significance Single submitter
- EDEM1 p.Gly120Ser Uncertain significance Single submitter
- EDEM1 p.Gly42Ala Uncertain significance Single submitter
- EDEM1 p.Gly444Glu Uncertain significance Single submitter
- EDEM1 p.Gly51Asp Uncertain significance Single submitter
- EDEM1 p.Gly58Glu Uncertain significance Single submitter
- EDEM1 p.Gly58Trp Uncertain significance Single submitter
- EDEM1 p.Gly604Arg Uncertain significance Single submitter
- EDEM1 p.Gly64Arg Uncertain significance Single submitter
- EDEM1 p.Gly64Val Uncertain significance Single submitter
- EDEM1 p.Gly65Arg Uncertain significance Single submitter
- EDEM1 p.His459Arg Uncertain significance Single submitter
- EDEM1 p.His589Arg Uncertain significance Single submitter
- EDEM1 p.His613Tyr Uncertain significance Single submitter
- EDEM1 p.His618Arg Uncertain significance Single submitter
- EDEM1 p.Ile538Val Uncertain significance Single submitter
- EDEM1 p.Leu12Phe Uncertain significance Single submitter
- EDEM1 p.Leu271His Uncertain significance Single submitter
- EDEM1 p.Leu272Pro Uncertain significance Single submitter
- EDEM1 p.Leu39Val Uncertain significance Single submitter
- EDEM1 p.Leu438Pro Uncertain significance Single submitter
- EDEM1 p.Leu46Arg Uncertain significance Single submitter
- EDEM1 p.Leu501Arg Uncertain significance Single submitter
- EDEM1 p.Lys217Arg Uncertain significance Single submitter
- EDEM1 p.Lys245Arg Uncertain significance Single submitter
- EDEM1 p.Lys279Asn Uncertain significance Single submitter
- EDEM1 p.Pro111Arg Uncertain significance Single submitter
- EDEM1 p.Pro247Thr Uncertain significance Single submitter
- EDEM1 p.Pro29Arg Uncertain significance Single submitter
- EDEM1 p.Pro489Gln Uncertain significance Single submitter
- EDEM1 p.Pro55Ala Uncertain significance Single submitter
- EDEM1 p.Pro59Leu Uncertain significance Single submitter
- EDEM1 p.Pro74Leu Uncertain significance Single submitter
- EDEM1 p.Pro75Ser Uncertain significance Single submitter
- EDEM1 p.Pro75Thr Uncertain significance Single submitter
- EDEM1 p.Ser398Gly Uncertain significance Single submitter
- EDEM1 p.Ser70Leu Uncertain significance Single submitter
- EDEM1 p.Thr227Met Uncertain significance Single submitter
- EDEM1 p.Thr278Pro Uncertain significance Single submitter
- EDEM1 p.Thr433Ser Uncertain significance Single submitter
- EDEM1 p.Tyr524His Uncertain significance Single submitter
- EDEM1 p.Tyr559Phe Uncertain significance Single submitter
- EDEM1 p.Val11Met Uncertain significance Single submitter
- EDEM1 p.Val350Ile Uncertain significance Single submitter
- EDEM1 p.Val537Ile Uncertain significance Single submitter
- EDEM1 p.Val60Leu Uncertain significance Single submitter
- EDEM1 p.Val66Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- EDEM1 p.Arg161Cys Uncertain significance Single submitter
- EDEM1 p.Arg636Gly Uncertain significance Single submitter
- EDEM1 p.Gly249Ser Uncertain significance Single submitter
- EDEM1 p.Leu319Val Uncertain significance Single submitter
- EDEM1 p.Leu339Phe Uncertain significance Single submitter
- EDEM1 p.Phe441Ser Uncertain significance Single submitter
- EDEM1 p.Ser398Cys Uncertain significance Single submitter
- EDEM1 p.Val223Ile Uncertain significance Single submitter
All EDEM1 variants
Likely benign 3
- p.Glu602Asp Single submitter
- p.Ser48Gly Single submitter
- p.Tyr262His Single submitter
Uncertain significance 88
- p.Ala128Ser Single submitter ⚠
- p.Ala134Val Single submitter
- p.Ala274Thr Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala409Ser Single submitter ⚠
- p.Ala53Thr Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Ala80Ser Single submitter ⚠
- p.Ala86Pro Single submitter ⚠
- p.Ala98Gly Single submitter ⚠
- p.Arg107Pro Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg167Gly Single submitter ⚠
- p.Arg270Trp Single submitter ⚠
- p.Arg286Trp Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Arg45Ser Single submitter ⚠
- p.Arg468Gln Single submitter ⚠
- p.Arg545Trp Single submitter ⚠
- p.Arg636Gly Single submitter ⚠
- p.Asn156Ser Single submitter ⚠
- p.Asn298Ser Single submitter ⚠
- p.Asn507Ser Single submitter
- p.Asp166Tyr Single submitter ⚠
- p.Asp243Glu Single submitter
- p.Asp539Glu Single submitter ⚠
- p.Gln125Lys Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Glu312Ala Single submitter ⚠
- p.Gly105Ser Single submitter ⚠
- p.Gly120Cys Single submitter ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly249Ser Single submitter ⚠
- p.Gly42Ala Single submitter ⚠
- p.Gly444Glu Single submitter ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly58Glu Single submitter ⚠
- p.Gly58Trp Single submitter ⚠
- p.Gly604Arg Single submitter ⚠
- p.Gly64Arg Single submitter ⚠
- p.Gly64Val Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.His459Arg Single submitter ⚠
- p.His512Arg Single submitter
- p.His589Arg Single submitter ⚠
- p.His613Tyr Single submitter ⚠
- p.His618Arg Single submitter ⚠
- p.Ile538Val Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu271His Single submitter ⚠
- p.Leu272Pro Single submitter ⚠
- p.Leu319Val Single submitter ⚠
- p.Leu339Phe Single submitter ⚠
- p.Leu39Val Single submitter ⚠
- p.Leu438Pro Single submitter ⚠
- p.Leu46Arg Single submitter ⚠
- p.Leu501Arg Single submitter ⚠
- p.Leu511Val Single submitter
- p.Lys217Arg Single submitter ⚠
- p.Lys245Arg Single submitter ⚠
- p.Lys279Asn Single submitter ⚠
- p.Met251Thr Single submitter
- p.Met263Arg Single submitter
- p.Met425Val Single submitter
- p.Phe441Ser Single submitter ⚠
- p.Pro111Arg Single submitter ⚠
- p.Pro247Thr Single submitter ⚠
- p.Pro29Arg Single submitter ⚠
- p.Pro489Gln Single submitter ⚠
- p.Pro55Ala Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Pro75Ser Single submitter ⚠
- p.Pro75Thr Single submitter ⚠
- p.Ser398Cys Single submitter ⚠
- p.Ser398Gly Single submitter ⚠
- p.Ser70Leu Single submitter ⚠
- p.Thr227Met Single submitter ⚠
- p.Thr278Pro Single submitter ⚠
- p.Thr433Ser Single submitter ⚠
- p.Tyr524His Single submitter ⚠
- p.Tyr559Phe Single submitter ⚠
- p.Val11Met Single submitter ⚠
- p.Val223Ile Single submitter ⚠
- p.Val350Ile Single submitter ⚠
- p.Val537Ile Single submitter ⚠
- p.Val60Leu Single submitter ⚠
- p.Val66Ala Single submitter ⚠