EPS15 — 109 ClinVar variants
All ClinVar germline EPS15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
2 Likely benign · 107 Uncertain significance
Full EPS15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPS15 p.Ala208Ser Uncertain significance Single submitter
- EPS15 p.Ala39Thr Uncertain significance Single submitter
- EPS15 p.Ala560Ser Uncertain significance Single submitter
- EPS15 p.Ala613Gly Uncertain significance Single submitter
- EPS15 p.Ala676Val Uncertain significance Single submitter
- EPS15 p.Asn381Ser Uncertain significance Single submitter
- EPS15 p.Asn540Lys Uncertain significance Single submitter
- EPS15 p.Asn679Ser Uncertain significance Single submitter
- EPS15 p.Asn734Ser Uncertain significance Single submitter
- EPS15 p.Asn735Asp Uncertain significance Single submitter
- EPS15 p.Asn835Ser Uncertain significance Single submitter
- EPS15 p.Asp280Glu Uncertain significance Single submitter
- EPS15 p.Asp375Asn Uncertain significance Single submitter
- EPS15 p.Asp525Gly Uncertain significance Single submitter
- EPS15 p.Asp61Asn Uncertain significance Single submitter
- EPS15 p.Asp61His Uncertain significance Single submitter
- EPS15 p.Asp633Asn Uncertain significance Single submitter
- EPS15 p.Asp651His Uncertain significance Single submitter
- EPS15 p.Asp705His Uncertain significance Single submitter
- EPS15 p.Asp766Gly Uncertain significance Single submitter
- EPS15 p.Asp813Asn Uncertain significance Single submitter
- EPS15 p.Cys527Tyr Uncertain significance Single submitter
- EPS15 p.Gln385Glu Uncertain significance Single submitter
- EPS15 p.Gln508His Uncertain significance Single submitter
- EPS15 p.Gln508Pro Uncertain significance Single submitter
- EPS15 p.Glu197Asp Uncertain significance Single submitter
- EPS15 p.Glu348Gly Uncertain significance Single submitter
- EPS15 p.Glu403Lys Uncertain significance Single submitter
- EPS15 p.Glu444Lys Uncertain significance Single submitter
- EPS15 p.Glu488Lys Uncertain significance Single submitter
- EPS15 p.Glu868Lys Uncertain significance Single submitter
- EPS15 p.Gly144Arg Uncertain significance Single submitter
- EPS15 p.Gly32Arg Uncertain significance Single submitter
- EPS15 p.Gly66Ser Uncertain significance Single submitter
- EPS15 p.Gly811Asp Uncertain significance Single submitter
- EPS15 p.His505Arg Uncertain significance Single submitter
- EPS15 p.His542Arg Uncertain significance Single submitter
- EPS15 p.Ile321Leu Uncertain significance Single submitter
- EPS15 p.Ile682Thr Uncertain significance Single submitter
- EPS15 p.Leu529Val Uncertain significance Single submitter
- EPS15 p.Leu79His Uncertain significance Single submitter
- EPS15 p.Leu802Pro Uncertain significance Single submitter
- EPS15 p.Lys254Arg Uncertain significance Single submitter
- EPS15 p.Lys754Glu Uncertain significance Single submitter
- EPS15 p.Met189Thr Uncertain significance Single submitter
- EPS15 p.Met307Ile Uncertain significance Single submitter
- EPS15 p.Pro325Ser Uncertain significance Single submitter
- EPS15 p.Pro611Ala Uncertain significance Single submitter
- EPS15 p.Ser107Gly Uncertain significance Single submitter
- EPS15 p.Ser467Arg Uncertain significance Single submitter
- EPS15 p.Ser467Asn Uncertain significance Single submitter
- EPS15 p.Ser533Asn Uncertain significance Single submitter
- EPS15 p.Ser841Gly Uncertain significance Single submitter
- EPS15 p.Thr442Ser Uncertain significance Single submitter
- EPS15 p.Thr461Ala Uncertain significance Single submitter
- EPS15 p.Thr609Ser Uncertain significance Single submitter
- EPS15 p.Thr699Ala Uncertain significance Single submitter
- EPS15 p.Trp122Arg Uncertain significance Single submitter
- EPS15 p.Tyr193Cys Uncertain significance Single submitter
- EPS15 p.Tyr526Cys Uncertain significance Single submitter
- EPS15 p.Val124Leu Uncertain significance Single submitter
- EPS15 p.Val581Ile Uncertain significance Single submitter
- EPS15 p.Val685Glu Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- EPS15 p.Ala2Ser Uncertain significance Single submitter
- EPS15 p.Ala423Val Uncertain significance Single submitter
- EPS15 p.Ala4Glu Uncertain significance Single submitter
- EPS15 p.Ala4Thr Uncertain significance Single submitter
- EPS15 p.Ala667Thr Uncertain significance Single submitter
- EPS15 p.Arg249Cys Uncertain significance Single submitter
- EPS15 p.Arg78His Uncertain significance Single submitter
- EPS15 p.Asn755His Uncertain significance Single submitter
- EPS15 p.Asp27Glu Uncertain significance Single submitter
- EPS15 p.Asp599His Uncertain significance Single submitter
- EPS15 p.Gln317Arg Uncertain significance Single submitter
- EPS15 p.Gln378Leu Uncertain significance Single submitter
- EPS15 p.Gln439Arg Uncertain significance Single submitter
- EPS15 p.Glu306Gly Uncertain significance Single submitter
- EPS15 p.Glu360Gly Uncertain significance Single submitter
- EPS15 p.Glu736Gln Uncertain significance Single submitter
- EPS15 p.Glu857Lys Uncertain significance Single submitter
- EPS15 p.Glu883Gln Uncertain significance Single submitter
- EPS15 p.Gly627Asp Uncertain significance Single submitter
- EPS15 p.His287Arg Uncertain significance Single submitter
- EPS15 p.Ile426Met Uncertain significance Single submitter
- EPS15 p.Ile886Val Uncertain significance Single submitter
- EPS15 p.Leu156Phe Uncertain significance Single submitter
- EPS15 p.Leu209Val Uncertain significance Single submitter
- EPS15 p.Leu398Phe Uncertain significance Single submitter
- EPS15 p.Leu882Val Uncertain significance Single submitter
- EPS15 p.Lys131Arg Uncertain significance Single submitter
- EPS15 p.Met499Thr Uncertain significance Single submitter
- EPS15 p.Met855Ile Uncertain significance Single submitter
- EPS15 p.Met855Val Uncertain significance Single submitter
- EPS15 p.Pro153Leu Uncertain significance Single submitter
- EPS15 p.Pro600Thr Uncertain significance Single submitter
- EPS15 p.Pro710Leu Uncertain significance Single submitter
- EPS15 p.Ser290Gly Uncertain significance Single submitter
- EPS15 p.Ser514Arg Uncertain significance Single submitter
- EPS15 p.Ser669Leu Uncertain significance Single submitter
- EPS15 p.Ser684Leu Uncertain significance Single submitter
- EPS15 p.Ser847Asn Uncertain significance Single submitter
- EPS15 p.Ser847Cys Uncertain significance Single submitter
- EPS15 p.Ser851Pro Uncertain significance Single submitter
- EPS15 p.Thr304Pro Uncertain significance Single submitter
- EPS15 p.Thr524Ile Uncertain significance Single submitter
- EPS15 p.Val220Ile Uncertain significance Single submitter
- EPS15 p.Val26Phe Uncertain significance Single submitter
All EPS15 variants
Likely benign 2
- p.Gly721Glu Single submitter
- p.Val302Ile Single submitter
Uncertain significance 107
- p.Ala208Ser Single submitter ⚠
- p.Ala2Ser Single submitter ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala4Glu Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Ala560Ser Single submitter ⚠
- p.Ala613Gly Single submitter ⚠
- p.Ala667Thr Single submitter ⚠
- p.Ala676Val Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn381Ser Single submitter ⚠
- p.Asn540Lys Single submitter ⚠
- p.Asn679Ser Single submitter ⚠
- p.Asn734Ser Single submitter ⚠
- p.Asn735Asp Single submitter ⚠
- p.Asn755His Single submitter ⚠
- p.Asn835Ser Single submitter ⚠
- p.Asp27Glu Single submitter ⚠
- p.Asp280Glu Single submitter ⚠
- p.Asp375Asn Single submitter ⚠
- p.Asp525Gly Single submitter ⚠
- p.Asp599His Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Asp61His Single submitter ⚠
- p.Asp633Asn Single submitter ⚠
- p.Asp651His Single submitter ⚠
- p.Asp705His Single submitter ⚠
- p.Asp766Gly Single submitter ⚠
- p.Asp813Asn Single submitter ⚠
- p.Cys527Tyr Single submitter ⚠
- p.Gln317Arg Single submitter ⚠
- p.Gln378Leu Single submitter ⚠
- p.Gln385Glu Single submitter ⚠
- p.Gln439Arg Single submitter ⚠
- p.Gln508His Single submitter ⚠
- p.Gln508Pro Single submitter ⚠
- p.Glu197Asp Single submitter ⚠
- p.Glu306Gly Single submitter ⚠
- p.Glu348Gly Single submitter ⚠
- p.Glu360Gly Single submitter ⚠
- p.Glu403Lys Single submitter ⚠
- p.Glu444Lys Single submitter ⚠
- p.Glu488Lys Single submitter ⚠
- p.Glu736Gln Single submitter ⚠
- p.Glu857Lys Single submitter ⚠
- p.Glu868Lys Single submitter ⚠
- p.Glu883Gln Single submitter ⚠
- p.Gly144Arg Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly627Asp Single submitter ⚠
- p.Gly66Ser Single submitter ⚠
- p.Gly811Asp Single submitter ⚠
- p.His287Arg Single submitter ⚠
- p.His505Arg Single submitter ⚠
- p.His542Arg Single submitter ⚠
- p.Ile321Leu Single submitter ⚠
- p.Ile426Met Single submitter ⚠
- p.Ile682Thr Single submitter ⚠
- p.Ile886Val Single submitter ⚠
- p.Leu156Phe Single submitter ⚠
- p.Leu209Val Single submitter ⚠
- p.Leu398Phe Single submitter ⚠
- p.Leu529Val Single submitter ⚠
- p.Leu79His Single submitter ⚠
- p.Leu802Pro Single submitter ⚠
- p.Leu882Val Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Lys254Arg Single submitter ⚠
- p.Lys754Glu Single submitter ⚠
- p.Met189Thr Single submitter ⚠
- p.Met307Ile Single submitter ⚠
- p.Met499Thr Single submitter ⚠
- p.Met855Ile Single submitter ⚠
- p.Met855Val Single submitter ⚠
- p.Pro153Leu Single submitter ⚠
- p.Pro325Ser Single submitter ⚠
- p.Pro600Thr Single submitter ⚠
- p.Pro611Ala Single submitter ⚠
- p.Pro710Leu Single submitter ⚠
- p.Ser107Gly Single submitter ⚠
- p.Ser290Gly Single submitter ⚠
- p.Ser467Arg Single submitter ⚠
- p.Ser467Asn Single submitter ⚠
- p.Ser514Arg Single submitter ⚠
- p.Ser533Asn Single submitter ⚠
- p.Ser669Leu Single submitter ⚠
- p.Ser684Leu Single submitter ⚠
- p.Ser841Gly Single submitter ⚠
- p.Ser847Asn Single submitter ⚠
- p.Ser847Cys Single submitter ⚠
- p.Ser851Pro Single submitter ⚠
- p.Thr304Pro Single submitter ⚠
- p.Thr442Ser Single submitter ⚠
- p.Thr461Ala Single submitter ⚠
- p.Thr524Ile Single submitter ⚠
- p.Thr609Ser Single submitter ⚠
- p.Thr699Ala Single submitter ⚠
- p.Trp122Arg Single submitter ⚠
- p.Tyr193Cys Single submitter ⚠
- p.Tyr526Cys Single submitter ⚠
- p.Val124Leu Single submitter ⚠
- p.Val220Ile Single submitter ⚠
- p.Val26Phe Single submitter ⚠
- p.Val581Ile Single submitter ⚠
- p.Val685Glu Single submitter ⚠