APEH — 70 ClinVar variants
All ClinVar germline APEH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
2 Likely benign · 68 Uncertain significance
Full APEH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APEH p.Arg278Cys Uncertain significance Single submitter
- APEH p.Arg278His Uncertain significance Single submitter
- APEH p.Arg306Trp Uncertain significance Single submitter
- APEH p.Arg538His Uncertain significance Single submitter
- APEH p.Arg676Gln Uncertain significance Single submitter
- APEH p.Arg89Pro Uncertain significance Single submitter
- APEH p.Asn134Ser Uncertain significance Single submitter
- APEH p.Asp189Glu Uncertain significance Single submitter
- APEH p.Asp460Asn Uncertain significance Single submitter
- APEH p.Asp559Gly Uncertain significance Single submitter
- APEH p.Asp624His Uncertain significance Single submitter
- APEH p.Cys607Ser Uncertain significance Single submitter
- APEH p.Gln52Arg Uncertain significance Single submitter
- APEH p.Gln572Arg Uncertain significance Single submitter
- APEH p.Glu354Asp Uncertain significance Single submitter
- APEH p.Glu456Lys Uncertain significance Single submitter
- APEH p.Glu475Lys Uncertain significance Single submitter
- APEH p.Gly257Asp Uncertain significance Single submitter
- APEH p.Gly407Val Uncertain significance Single submitter
- APEH p.His575Arg Uncertain significance Single submitter
- APEH p.Leu388Val Uncertain significance Single submitter
- APEH p.Leu583Pro Uncertain significance Single submitter
- APEH p.Lys108Arg Uncertain significance Single submitter
- APEH p.Lys291Thr Uncertain significance Single submitter
- APEH p.Phe719Ser Uncertain significance Single submitter
- APEH p.Pro459Ser Uncertain significance Single submitter
- APEH p.Pro472Ala Uncertain significance Single submitter
- APEH p.Ser156Leu Uncertain significance Single submitter
- APEH p.Thr112Pro Uncertain significance Single submitter
- APEH p.Thr498Ala Uncertain significance Single submitter
- APEH p.Thr603Ile Uncertain significance Single submitter
- APEH p.Trp155Ser Uncertain significance Single submitter
- APEH p.Tyr360His Uncertain significance Single submitter
- APEH p.Val663Gly Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- APEH p.Arg107Cys Uncertain significance Single submitter
- APEH p.Arg128Gly Uncertain significance Single submitter
- APEH p.Arg313Leu Uncertain significance Single submitter
- APEH p.Arg383Cys Uncertain significance Single submitter
- APEH p.Arg65His Uncertain significance Single submitter
- APEH p.Arg693Gln Uncertain significance Single submitter
- APEH p.Arg89Trp Uncertain significance Single submitter
- APEH p.Asn243His Uncertain significance Single submitter
- APEH p.Asn277Ser Uncertain significance Single submitter
- APEH p.Gln374His Uncertain significance Single submitter
- APEH p.Gln478Pro Uncertain significance Single submitter
- APEH p.Gln569His Uncertain significance Single submitter
- APEH p.Glu91Gln Uncertain significance Single submitter
- APEH p.Gly598Ala Uncertain significance Single submitter
- APEH p.Ile272Asn Uncertain significance Single submitter
- APEH p.Ile616Phe Uncertain significance Single submitter
- APEH p.Leu20Ile Uncertain significance Single submitter
- APEH p.Leu412Phe Uncertain significance Single submitter
- APEH p.Leu525Val Uncertain significance Single submitter
- APEH p.Leu533Ile Uncertain significance Single submitter
- APEH p.Lys527Gln Uncertain significance Single submitter
- APEH p.Met720Thr Uncertain significance Single submitter
- APEH p.Phe576Cys Uncertain significance Single submitter
- APEH p.Pro222Ser Uncertain significance Single submitter
- APEH p.Pro472Leu Uncertain significance Single submitter
- APEH p.Pro81Ser Uncertain significance Single submitter
- APEH p.Ser27Ile Uncertain significance Single submitter
- APEH p.Thr112Met Uncertain significance Single submitter
- APEH p.Thr338Asn Uncertain significance Single submitter
- APEH p.Thr432Asn Uncertain significance Single submitter
- APEH p.Thr665Ala Uncertain significance Single submitter
- APEH p.Tyr600His Uncertain significance Single submitter
- APEH p.Val567Ala Uncertain significance Single submitter
- APEH p.Val77Met Uncertain significance Single submitter
All APEH variants
Uncertain significance 68
- p.Arg107Cys Single submitter ⚠
- p.Arg128Gly Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg313Leu Single submitter ⚠
- p.Arg383Cys Single submitter ⚠
- p.Arg538His Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Arg676Gln Single submitter ⚠
- p.Arg693Gln Single submitter ⚠
- p.Arg89Pro Single submitter ⚠
- p.Arg89Trp Single submitter ⚠
- p.Asn134Ser Single submitter ⚠
- p.Asn243His Single submitter ⚠
- p.Asn277Ser Single submitter ⚠
- p.Asp189Glu Single submitter ⚠
- p.Asp460Asn Single submitter ⚠
- p.Asp559Gly Single submitter ⚠
- p.Asp624His Single submitter ⚠
- p.Cys607Ser Single submitter ⚠
- p.Gln374His Single submitter ⚠
- p.Gln478Pro Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Gln569His Single submitter ⚠
- p.Gln572Arg Single submitter ⚠
- p.Glu354Asp Single submitter ⚠
- p.Glu456Lys Single submitter ⚠
- p.Glu475Lys Single submitter ⚠
- p.Glu91Gln Single submitter ⚠
- p.Gly257Asp Single submitter ⚠
- p.Gly407Val Single submitter ⚠
- p.Gly598Ala Single submitter ⚠
- p.His575Arg Single submitter ⚠
- p.Ile272Asn Single submitter ⚠
- p.Ile616Phe Single submitter ⚠
- p.Leu20Ile Single submitter ⚠
- p.Leu388Val Single submitter ⚠
- p.Leu412Phe Single submitter ⚠
- p.Leu525Val Single submitter ⚠
- p.Leu533Ile Single submitter ⚠
- p.Leu583Pro Single submitter ⚠
- p.Lys108Arg Single submitter ⚠
- p.Lys291Thr Single submitter ⚠
- p.Lys527Gln Single submitter ⚠
- p.Met720Thr Single submitter ⚠
- p.Phe576Cys Single submitter ⚠
- p.Phe719Ser Single submitter ⚠
- p.Pro222Ser Single submitter ⚠
- p.Pro459Ser Single submitter ⚠
- p.Pro472Ala Single submitter ⚠
- p.Pro472Leu Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser156Leu Single submitter ⚠
- p.Ser27Ile Single submitter ⚠
- p.Thr112Met Single submitter ⚠
- p.Thr112Pro Single submitter ⚠
- p.Thr338Asn Single submitter ⚠
- p.Thr432Asn Single submitter ⚠
- p.Thr498Ala Single submitter ⚠
- p.Thr603Ile Single submitter ⚠
- p.Thr665Ala Single submitter ⚠
- p.Trp155Ser Single submitter ⚠
- p.Tyr360His Single submitter ⚠
- p.Tyr600His Single submitter ⚠
- p.Val567Ala Single submitter ⚠
- p.Val663Gly Single submitter ⚠
- p.Val77Met Single submitter ⚠