EPN1 — 108 ClinVar variants
All ClinVar germline EPN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
8 Likely benign · 100 Uncertain significance
Full EPN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPN1 p.Ala147Thr Uncertain significance Single submitter
- EPN1 p.Ala20Gly Uncertain significance Single submitter
- EPN1 p.Ala284Thr Uncertain significance Single submitter
- EPN1 p.Ala438Val Uncertain significance Single submitter
- EPN1 p.Ala526Ser Uncertain significance Single submitter
- EPN1 p.Ala544Val Uncertain significance Single submitter
- EPN1 p.Arg409Gln Uncertain significance Single submitter
- EPN1 p.Arg534His Uncertain significance Single submitter
- EPN1 p.Asn389Ser Uncertain significance Single submitter
- EPN1 p.Asp136Asn Uncertain significance Single submitter
- EPN1 p.Asp398Asn Uncertain significance Single submitter
- EPN1 p.Asp45Gly Uncertain significance Single submitter
- EPN1 p.Gly336Ala Uncertain significance Single submitter
- EPN1 p.Gly418Arg Uncertain significance Single submitter
- EPN1 p.Gly497Ala Uncertain significance Single submitter
- EPN1 p.Lys252Arg Uncertain significance Single submitter
- EPN1 p.Pro363Ser Uncertain significance Single submitter
- EPN1 p.Pro493Ser Uncertain significance Single submitter
- EPN1 p.Ser162Ala Uncertain significance Single submitter
- EPN1 p.Ser420Arg Uncertain significance Single submitter
- EPN1 p.Ser489Gly Uncertain significance Single submitter
- EPN1 p.Ser93Leu Uncertain significance Single submitter
- EPN1 p.Thr159Met Uncertain significance Single submitter
- EPN1 p.Thr412Lys Uncertain significance Single submitter
- EPN1 p.Trp33Cys Uncertain significance Single submitter
- EPN1 p.Val263Ile Uncertain significance Single submitter
- EPN1 p.Val360Ala Uncertain significance Single submitter
Predictors split 54
The independent predictors disagree with each other — read with care.
- EPN1 p.Ala145Val Uncertain significance Single submitter
- EPN1 p.Ala270Pro Likely benign Single submitter
- EPN1 p.Ala325Val Uncertain significance Single submitter
- EPN1 p.Arg139Leu Uncertain significance Single submitter
- EPN1 p.Arg468Trp Uncertain significance Single submitter
- EPN1 p.Arg490Trp Uncertain significance Single submitter
- EPN1 p.Arg534Cys Uncertain significance Single submitter
- EPN1 p.Asn389Lys Uncertain significance Single submitter
- EPN1 p.Asp319Asn Uncertain significance Single submitter
- EPN1 p.Asp367Asn Uncertain significance Single submitter
- EPN1 p.Asp367Tyr Uncertain significance Single submitter
- EPN1 p.Asp402Asn Uncertain significance Single submitter
- EPN1 p.Asp483Asn Uncertain significance Single submitter
- EPN1 p.Glu403Lys Uncertain significance Single submitter
- EPN1 p.Glu472Lys Uncertain significance Single submitter
- EPN1 p.Gly335Cys Uncertain significance Single submitter
- EPN1 p.Gly381Arg Uncertain significance Single submitter
- EPN1 p.Gly390Ala Uncertain significance Single submitter
- EPN1 p.Gly395Arg Uncertain significance Single submitter
- EPN1 p.Gly396Glu Uncertain significance Single submitter
- EPN1 p.Gly543Arg Uncertain significance Single submitter
- EPN1 p.Gly554Arg Uncertain significance Single submitter
- EPN1 p.Gly565Cys Uncertain significance Single submitter
- EPN1 p.Lys196Arg Uncertain significance Single submitter
- EPN1 p.Met78Val Uncertain significance Single submitter
- EPN1 p.Met81Ile Uncertain significance Single submitter
- EPN1 p.Phe407Leu Uncertain significance Single submitter
- EPN1 p.Phe474Leu Uncertain significance Single submitter
- EPN1 p.Pro203Leu Likely benign Single submitter
- EPN1 p.Pro271Leu Uncertain significance Single submitter
- EPN1 p.Pro279Leu Uncertain significance Single submitter
- EPN1 p.Pro281Leu Uncertain significance Single submitter
- EPN1 p.Pro302Leu Uncertain significance Single submitter
- EPN1 p.Pro359Leu Uncertain significance Single submitter
- EPN1 p.Pro415Leu Uncertain significance Single submitter
- EPN1 p.Pro436Leu Uncertain significance Single submitter
- EPN1 p.Pro456Gln Uncertain significance Single submitter
- EPN1 p.Pro466Arg Uncertain significance Single submitter
- EPN1 p.Pro466His Uncertain significance Single submitter
- EPN1 p.Pro491Leu Uncertain significance Single submitter
- EPN1 p.Pro564Leu Uncertain significance Single submitter
- EPN1 p.Pro567Leu Uncertain significance Single submitter
- EPN1 p.Ser181Ile Uncertain significance Single submitter
- EPN1 p.Ser293Leu Uncertain significance Single submitter
- EPN1 p.Ser353Asn Uncertain significance Single submitter
- EPN1 p.Thr265Met Uncertain significance Single submitter
- EPN1 p.Thr273Ile Uncertain significance Single submitter
- EPN1 p.Thr314Met Uncertain significance Single submitter
- EPN1 p.Thr347Met Uncertain significance Single submitter
- EPN1 p.Thr399Met Uncertain significance Single submitter
- EPN1 p.Thr79Ser Uncertain significance Single submitter
- EPN1 p.Trp177Arg Uncertain significance Single submitter
- EPN1 p.Val103Met Uncertain significance Single submitter
- EPN1 p.Val112Met Uncertain significance Single submitter
All EPN1 variants
Likely benign 8
- c.-101-844A>G Single submitter
- c.-101-923C>T Single submitter
- c.-63G>A Single submitter
- c.-76G>A Single submitter
- c.-77C>T Single submitter
- p.Ala270Pro Single submitter ⚠
- p.Met282Val Single submitter
- p.Pro203Leu Single submitter ⚠
Uncertain significance 100
- c.-101-1336T>C Single submitter
- c.-101-1337C>A Single submitter
- c.-101-1340T>C Single submitter
- c.-101-1351G>T Single submitter
- c.-101-813C>T Single submitter
- c.-101-834C>T Single submitter
- c.-101-838G>C Single submitter
- c.-101-846C>T Single submitter
- c.-101-870T>G Single submitter
- c.-101-874C>G Single submitter
- c.-101-874C>T Single submitter
- c.-101-878G>C Single submitter
- c.-101-886G>A Single submitter
- c.-101-901G>A Single submitter
- c.-101-923C>G Single submitter
- c.-101-925A>C Single submitter
- c.-101-942A>G Single submitter
- c.-19G>T Single submitter
- c.-36G>A Single submitter
- c.-42C>T Single submitter
- c.-99G>A Single submitter
- p.Ala145Val Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala20Gly Single submitter ⚠
- p.Ala284Thr Single submitter ⚠
- p.Ala325Val Single submitter ⚠
- p.Ala438Val Single submitter ⚠
- p.Ala526Ser Single submitter ⚠
- p.Ala544Val Single submitter ⚠
- p.Arg139Leu Single submitter ⚠
- p.Arg409Gln Single submitter ⚠
- p.Arg468Trp Single submitter ⚠
- p.Arg490Trp Single submitter ⚠
- p.Arg534Cys Single submitter ⚠
- p.Arg534His Single submitter ⚠
- p.Asn389Lys Single submitter ⚠
- p.Asn389Ser Single submitter ⚠
- p.Asp136Asn Single submitter ⚠
- p.Asp319Asn Single submitter ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp367Tyr Single submitter ⚠
- p.Asp398Asn Single submitter ⚠
- p.Asp402Asn Single submitter ⚠
- p.Asp45Gly Single submitter ⚠
- p.Asp483Asn Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu472Lys Single submitter ⚠
- p.Gly335Cys Single submitter ⚠
- p.Gly336Ala Single submitter ⚠
- p.Gly381Arg Single submitter ⚠
- p.Gly390Ala Single submitter ⚠
- p.Gly395Arg Single submitter ⚠
- p.Gly396Glu Single submitter ⚠
- p.Gly418Arg Single submitter ⚠
- p.Gly497Ala Single submitter ⚠
- p.Gly543Arg Single submitter ⚠
- p.Gly554Arg Single submitter ⚠
- p.Gly565Cys Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Lys252Arg Single submitter ⚠
- p.Met78Val Single submitter ⚠
- p.Met81Ile Single submitter ⚠
- p.Phe407Leu Single submitter ⚠
- p.Phe474Leu Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro281Leu Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro359Leu Single submitter ⚠
- p.Pro363Ser Single submitter ⚠
- p.Pro415Leu Single submitter ⚠
- p.Pro436Leu Single submitter ⚠
- p.Pro456Gln Single submitter ⚠
- p.Pro466Arg Single submitter ⚠
- p.Pro466His Single submitter ⚠
- p.Pro491Leu Single submitter ⚠
- p.Pro493Ser Single submitter ⚠
- p.Pro564Leu Single submitter ⚠
- p.Pro567Leu Single submitter ⚠
- p.Ser162Ala Single submitter ⚠
- p.Ser181Ile Single submitter ⚠
- p.Ser293Leu Single submitter ⚠
- p.Ser353Asn Single submitter ⚠
- p.Ser420Arg Single submitter ⚠
- p.Ser489Gly Single submitter ⚠
- p.Ser93Leu Single submitter ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr265Met Single submitter ⚠
- p.Thr273Ile Single submitter ⚠
- p.Thr314Met Single submitter ⚠
- p.Thr347Met Single submitter ⚠
- p.Thr399Met Single submitter ⚠
- p.Thr412Lys Single submitter ⚠
- p.Thr79Ser Single submitter ⚠
- p.Trp177Arg Single submitter ⚠
- p.Trp33Cys Single submitter ⚠
- p.Val103Met Single submitter ⚠
- p.Val112Met Single submitter ⚠
- p.Val263Ile Single submitter ⚠
- p.Val360Ala Single submitter ⚠