EPN2 — 68 ClinVar variants
All ClinVar germline EPN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
2 Likely benign · 66 Uncertain significance
Full EPN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPN2 p.Ala253Gly Uncertain significance Single submitter
- EPN2 p.Ala347Thr Uncertain significance Single submitter
- EPN2 p.Ala347Val Uncertain significance Single submitter
- EPN2 p.Ala428Thr Uncertain significance Single submitter
- EPN2 p.Ala428Val Uncertain significance Single submitter
- EPN2 p.Ala517Val Uncertain significance Single submitter
- EPN2 p.Ala589Thr Uncertain significance Single submitter
- EPN2 p.Ala596Val Uncertain significance Single submitter
- EPN2 p.Arg124Cys Uncertain significance Single submitter
- EPN2 p.Arg153His Uncertain significance Single submitter
- EPN2 p.Arg260Gln Uncertain significance Single submitter
- EPN2 p.Arg8Trp Uncertain significance Single submitter
- EPN2 p.Arg91Cys Uncertain significance Single submitter
- EPN2 p.Arg91His Uncertain significance Single submitter
- EPN2 p.Asp118Glu Uncertain significance Single submitter
- EPN2 p.Asp242Tyr Uncertain significance Single submitter
- EPN2 p.Gln560Leu Uncertain significance Single submitter
- EPN2 p.Glu185Asp Uncertain significance Single submitter
- EPN2 p.Glu472Gln Uncertain significance Single submitter
- EPN2 p.Gly442Ala Uncertain significance Single submitter
- EPN2 p.Gly514Cys Uncertain significance Single submitter
- EPN2 p.Gly68Val Uncertain significance Single submitter
- EPN2 p.Ile103Phe Uncertain significance Single submitter
- EPN2 p.Met338Val Uncertain significance Single submitter
- EPN2 p.Met57Thr Uncertain significance Single submitter
- EPN2 p.Met588Thr Uncertain significance Single submitter
- EPN2 p.Pro356Leu Uncertain significance Single submitter
- EPN2 p.Pro561Leu Uncertain significance Single submitter
- EPN2 p.Pro581Leu Uncertain significance Single submitter
- EPN2 p.Pro583Leu Uncertain significance Single submitter
- EPN2 p.Pro614Ser Uncertain significance Single submitter
- EPN2 p.Ser199Leu Uncertain significance Single submitter
- EPN2 p.Ser237Pro Uncertain significance Single submitter
- EPN2 p.Ser4Leu Uncertain significance Single submitter
- EPN2 p.Thr363Pro Uncertain significance Single submitter
- EPN2 p.Thr508Ile Uncertain significance Single submitter
- EPN2 p.Thr635Ala Uncertain significance Single submitter
- EPN2 p.Val14Met Uncertain significance Single submitter
- EPN2 p.Val317Ala Uncertain significance Single submitter
- EPN2 p.Val474Glu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- EPN2 p.Ala102Thr Uncertain significance Single submitter
- EPN2 p.Ala412Val Uncertain significance Single submitter
- EPN2 p.Arg299Gln Uncertain significance Single submitter
- EPN2 p.Arg97Leu Uncertain significance Single submitter
- EPN2 p.Asn364Lys Uncertain significance Single submitter
- EPN2 p.Asn516Ser Uncertain significance Single submitter
- EPN2 p.Asp456Glu Uncertain significance Single submitter
- EPN2 p.Gln331Arg Uncertain significance Single submitter
- EPN2 p.Glu138Gly Uncertain significance Single submitter
- EPN2 p.Glu510Asp Uncertain significance Single submitter
- EPN2 p.Gly394Trp Uncertain significance Single submitter
- EPN2 p.Leu39Met Uncertain significance Single submitter
- EPN2 p.Leu84Val Uncertain significance Single submitter
- EPN2 p.Phe447Leu Uncertain significance Single submitter
- EPN2 p.Pro346Arg Uncertain significance Single submitter
- EPN2 p.Pro378Leu Uncertain significance Single submitter
- EPN2 p.Ser262Phe Uncertain significance Single submitter
- EPN2 p.Ser327Cys Uncertain significance Single submitter
- EPN2 p.Ser374Asn Uncertain significance Single submitter
- EPN2 p.Ser419Phe Uncertain significance Single submitter
- EPN2 p.Ser504Cys Uncertain significance Single submitter
- EPN2 p.Ser54Leu Uncertain significance Single submitter
- EPN2 p.Thr249Ile Uncertain significance Single submitter
- EPN2 p.Thr2Arg Uncertain significance Single submitter
- EPN2 p.Thr333Met Uncertain significance Single submitter
- EPN2 p.Val526Ala Uncertain significance Single submitter
All EPN2 variants
Likely benign 2
- p.Ala596Thr Single submitter
- p.Ile390Val Single submitter
Uncertain significance 66
- p.Ala102Thr Single submitter ⚠
- p.Ala253Gly Single submitter ⚠
- p.Ala347Thr Single submitter ⚠
- p.Ala347Val Single submitter ⚠
- p.Ala412Val Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala517Val Single submitter ⚠
- p.Ala589Thr Single submitter ⚠
- p.Ala596Val Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg260Gln Single submitter ⚠
- p.Arg299Gln Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Arg91Cys Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Arg97Leu Single submitter ⚠
- p.Asn364Lys Single submitter ⚠
- p.Asn516Ser Single submitter ⚠
- p.Asp118Glu Single submitter ⚠
- p.Asp242Tyr Single submitter ⚠
- p.Asp456Glu Single submitter ⚠
- p.Gln331Arg Single submitter ⚠
- p.Gln560Leu Single submitter ⚠
- p.Glu138Gly Single submitter ⚠
- p.Glu185Asp Single submitter ⚠
- p.Glu472Gln Single submitter ⚠
- p.Glu510Asp Single submitter ⚠
- p.Gly394Trp Single submitter ⚠
- p.Gly442Ala Single submitter ⚠
- p.Gly514Cys Single submitter ⚠
- p.Gly68Val Single submitter ⚠
- p.Ile103Phe Single submitter ⚠
- p.Leu39Met Single submitter ⚠
- p.Leu84Val Single submitter ⚠
- p.Met338Val Single submitter ⚠
- p.Met57Thr Single submitter ⚠
- p.Met588Thr Single submitter ⚠
- p.Phe447Leu Single submitter ⚠
- p.Pro346Arg Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro378Leu Single submitter ⚠
- p.Pro561Leu Single submitter ⚠
- p.Pro581Leu Single submitter ⚠
- p.Pro583Leu Single submitter ⚠
- p.Pro614Ser Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Ser237Pro Single submitter ⚠
- p.Ser262Phe Single submitter ⚠
- p.Ser327Cys Single submitter ⚠
- p.Ser374Asn Single submitter ⚠
- p.Ser419Phe Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Ser504Cys Single submitter ⚠
- p.Ser54Leu Single submitter ⚠
- p.Thr249Ile Single submitter ⚠
- p.Thr2Arg Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr363Pro Single submitter ⚠
- p.Thr508Ile Single submitter ⚠
- p.Thr635Ala Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val317Ala Single submitter ⚠
- p.Val474Glu Single submitter ⚠
- p.Val526Ala Single submitter ⚠