AEN — 66 ClinVar variants
All ClinVar germline AEN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
6 Likely benign · 60 Uncertain significance
Full AEN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AEN p.Ala10Ser Uncertain significance Single submitter
- AEN p.Ala194Thr Uncertain significance Single submitter
- AEN p.Arg131Cys Uncertain significance Single submitter
- AEN p.Arg131His Uncertain significance Single submitter
- AEN p.Arg212Gln Uncertain significance Single submitter
- AEN p.Arg27Gln Uncertain significance Single submitter
- AEN p.Arg29Gly Uncertain significance Single submitter
- AEN p.Arg314Lys Uncertain significance Single submitter
- AEN p.Asp114Gly Uncertain significance Single submitter
- AEN p.Asp302Tyr Uncertain significance Single submitter
- AEN p.Gln275Glu Uncertain significance Single submitter
- AEN p.Gln276Glu Uncertain significance Single submitter
- AEN p.Glu223Lys Uncertain significance Single submitter
- AEN p.Glu75Val Uncertain significance Single submitter
- AEN p.Gly225Arg Uncertain significance Single submitter
- AEN p.Gly312Arg Uncertain significance Single submitter
- AEN p.Gly312Ser Uncertain significance Single submitter
- AEN p.Gly316Glu Uncertain significance Single submitter
- AEN p.Ile153Val Uncertain significance Single submitter
- AEN p.Ile181Thr Uncertain significance Single submitter
- AEN p.Leu13Val Uncertain significance Single submitter
- AEN p.Leu221Phe Uncertain significance Single submitter
- AEN p.Leu226Val Uncertain significance Single submitter
- AEN p.Leu84Val Uncertain significance Single submitter
- AEN p.Lys101Thr Uncertain significance Single submitter
- AEN p.Lys23Asn Uncertain significance Single submitter
- AEN p.Met151Leu Uncertain significance Single submitter
- AEN p.Met300Leu Uncertain significance Single submitter
- AEN p.Pro63Ser Uncertain significance Single submitter
- AEN p.Pro97Ser Uncertain significance Single submitter
- AEN p.Ser280Thr Uncertain significance Single submitter
- AEN p.Ser293Gly Uncertain significance Single submitter
- AEN p.Ser79Thr Uncertain significance Single submitter
- AEN p.Ser88Ala Uncertain significance Single submitter
- AEN p.Thr214Pro Uncertain significance Single submitter
- AEN p.Tyr146Asn Uncertain significance Single submitter
- AEN p.Val111Ala Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- AEN p.Ala112Ser Uncertain significance Single submitter
- AEN p.Ala201Val Uncertain significance Single submitter
- AEN p.Ala45Ser Uncertain significance Single submitter
- AEN p.Arg125Trp Uncertain significance Single submitter
- AEN p.Arg159Cys Uncertain significance Single submitter
- AEN p.Arg208Gln Uncertain significance Single submitter
- AEN p.Arg229Trp Uncertain significance Single submitter
- AEN p.Arg231Trp Uncertain significance Single submitter
- AEN p.Arg267Trp Uncertain significance Single submitter
- AEN p.Arg279Gly Uncertain significance Single submitter
- AEN p.Arg39Gln Uncertain significance Single submitter
- AEN p.Arg39Trp Uncertain significance Single submitter
- AEN p.Arg43Gln Uncertain significance Single submitter
- AEN p.Glu128Lys Uncertain significance Single submitter
- AEN p.Gly187Ser Uncertain significance Single submitter
- AEN p.Ile147Leu Uncertain significance Single submitter
- AEN p.Leu17Phe Likely benign Single submitter
- AEN p.Leu239Pro Uncertain significance Single submitter
- AEN p.Leu46Met Uncertain significance Single submitter
- AEN p.Pro122Ser Uncertain significance Single submitter
- AEN p.Pro207Arg Uncertain significance Single submitter
- AEN p.Thr120Met Uncertain significance Single submitter
- AEN p.Val111Leu Uncertain significance Single submitter
- AEN p.Val205Gly Uncertain significance Single submitter
All AEN variants
Likely benign 6
- p.Ala230Thr Single submitter
- p.Gly69Arg Single submitter
- p.His311Gln Single submitter
- p.Leu17Phe Single submitter ⚠
- p.Leu84Pro Single submitter
- p.Thr260Met Single submitter
Uncertain significance 60
- p.Ala10Ser Single submitter ⚠
- p.Ala112Ser Single submitter ⚠
- p.Ala194Thr Single submitter ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala45Ser Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg208Gln Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg314Lys Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Asp114Gly Single submitter ⚠
- p.Asp302Tyr Single submitter ⚠
- p.Gln275Glu Single submitter ⚠
- p.Gln276Glu Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu75Val Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly225Arg Single submitter ⚠
- p.Gly312Arg Single submitter ⚠
- p.Gly312Ser Single submitter ⚠
- p.Gly316Glu Single submitter ⚠
- p.Ile147Leu Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile181Thr Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu221Phe Single submitter ⚠
- p.Leu226Val Single submitter ⚠
- p.Leu239Pro Single submitter ⚠
- p.Leu46Met Single submitter ⚠
- p.Leu84Val Single submitter ⚠
- p.Lys101Thr Single submitter ⚠
- p.Lys23Asn Single submitter ⚠
- p.Met151Leu Single submitter ⚠
- p.Met300Leu Single submitter ⚠
- p.Pro122Ser Single submitter ⚠
- p.Pro207Arg Single submitter ⚠
- p.Pro63Ser Single submitter ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser280Thr Single submitter ⚠
- p.Ser293Gly Single submitter ⚠
- p.Ser79Thr Single submitter ⚠
- p.Ser88Ala Single submitter ⚠
- p.Thr120Met Single submitter ⚠
- p.Thr214Pro Single submitter ⚠
- p.Tyr146Asn Single submitter ⚠
- p.Val111Ala Single submitter ⚠
- p.Val111Leu Single submitter ⚠
- p.Val205Gly Single submitter ⚠