EHD2 — 85 ClinVar variants
All ClinVar germline EHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
1 Likely benign · 84 Uncertain significance
Full EHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHD2 p.Ala340Glu Uncertain significance Single submitter
- EHD2 p.Ala391Pro Uncertain significance Single submitter
- EHD2 p.Ala442Asp Uncertain significance Single submitter
- EHD2 p.Arg167His Uncertain significance Single submitter
- EHD2 p.Arg398Gln Uncertain significance Single submitter
- EHD2 p.Arg41His Uncertain significance Single submitter
- EHD2 p.Arg425Gln Uncertain significance Single submitter
- EHD2 p.Arg497Cys Uncertain significance Single submitter
- EHD2 p.Arg528Pro Uncertain significance Single submitter
- EHD2 p.Arg87His Uncertain significance Single submitter
- EHD2 p.Asn143Asp Uncertain significance Single submitter
- EHD2 p.Asn295Ser Uncertain significance Single submitter
- EHD2 p.Asp296His Uncertain significance Single submitter
- EHD2 p.Glu317Lys Uncertain significance Single submitter
- EHD2 p.Glu406Lys Uncertain significance Single submitter
- EHD2 p.Gly129Arg Uncertain significance Single submitter
- EHD2 p.Gly205Arg Uncertain significance Single submitter
- EHD2 p.Gly205Ser Uncertain significance Single submitter
- EHD2 p.Gly434Ser Uncertain significance Single submitter
- EHD2 p.Gly469Ser Uncertain significance Single submitter
- EHD2 p.Gly487Glu Uncertain significance Single submitter
- EHD2 p.Gly65Ser Uncertain significance Single submitter
- EHD2 p.Ile157Thr Uncertain significance Single submitter
- EHD2 p.Leu25Phe Uncertain significance Single submitter
- EHD2 p.Leu278Val Uncertain significance Single submitter
- EHD2 p.Leu386Arg Uncertain significance Single submitter
- EHD2 p.Leu508Pro Uncertain significance Single submitter
- EHD2 p.Lys315Arg Uncertain significance Single submitter
- EHD2 p.Lys316Arg Uncertain significance Single submitter
- EHD2 p.Lys329Gln Uncertain significance Single submitter
- EHD2 p.Lys58Thr Uncertain significance Single submitter
- EHD2 p.Met359Ile Uncertain significance Single submitter
- EHD2 p.Met419Thr Uncertain significance Single submitter
- EHD2 p.Met419Val Uncertain significance Single submitter
- EHD2 p.Pro155Ala Uncertain significance Single submitter
- EHD2 p.Ser349Tyr Uncertain significance Single submitter
- EHD2 p.Val100Ile Uncertain significance Single submitter
- EHD2 p.Val306Gly Uncertain significance Single submitter
- EHD2 p.Val337Ile Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- EHD2 p.Ala161Thr Uncertain significance Single submitter
- EHD2 p.Ala308Thr Uncertain significance Single submitter
- EHD2 p.Ala365Val Uncertain significance Single submitter
- EHD2 p.Ala413Thr Uncertain significance Single submitter
- EHD2 p.Ala461Val Uncertain significance Single submitter
- EHD2 p.Ala524Asp Uncertain significance Single submitter
- EHD2 p.Ala99Ser Uncertain significance Single submitter
- EHD2 p.Arg11Trp Uncertain significance Single submitter
- EHD2 p.Arg123Cys Uncertain significance Single submitter
- EHD2 p.Arg123His Uncertain significance Single submitter
- EHD2 p.Arg30Cys Uncertain significance Single submitter
- EHD2 p.Arg41Cys Uncertain significance Single submitter
- EHD2 p.Arg488Cys Uncertain significance Single submitter
- EHD2 p.Asn267Ser Uncertain significance Single submitter
- EHD2 p.Asn483Thr Uncertain significance Single submitter
- EHD2 p.Asp464Asn Uncertain significance Single submitter
- EHD2 p.Gln276Glu Uncertain significance Single submitter
- EHD2 p.Gln357Pro Uncertain significance Single submitter
- EHD2 p.Glu384Gly Uncertain significance Single submitter
- EHD2 p.Glu443Lys Uncertain significance Single submitter
- EHD2 p.Glu455Gln Uncertain significance Single submitter
- EHD2 p.Glu518Gly Uncertain significance Single submitter
- EHD2 p.Gly209Ser Uncertain significance Single submitter
- EHD2 p.Gly420Arg Uncertain significance Single submitter
- EHD2 p.Gly57Arg Uncertain significance Single submitter
- EHD2 p.Ile157Val Uncertain significance Single submitter
- EHD2 p.Ile310Val Uncertain significance Single submitter
- EHD2 p.Leu273Val Uncertain significance Single submitter
- EHD2 p.Leu393Phe Uncertain significance Single submitter
- EHD2 p.Lys471Asn Uncertain significance Single submitter
- EHD2 p.Met237Leu Uncertain significance Single submitter
- EHD2 p.Pro118Leu Uncertain significance Single submitter
- EHD2 p.Pro15Ser Uncertain significance Single submitter
- EHD2 p.Pro421Leu Uncertain significance Single submitter
- EHD2 p.Ser23Leu Uncertain significance Single submitter
- EHD2 p.Ser438Leu Uncertain significance Single submitter
- EHD2 p.Ser451Cys Uncertain significance Single submitter
- EHD2 p.Thr20Met Uncertain significance Single submitter
- EHD2 p.Thr22Ile Uncertain significance Single submitter
- EHD2 p.Thr31Met Uncertain significance Single submitter
- EHD2 p.Tyr313Cys Uncertain significance Single submitter
- EHD2 p.Val115Ile Uncertain significance Single submitter
- EHD2 p.Val243Ala Uncertain significance Single submitter
- EHD2 p.Val88Leu Uncertain significance Single submitter
- EHD2 p.Val88Met Uncertain significance Single submitter
All EHD2 variants
Likely benign 1
- p.Val115= Single submitter
Uncertain significance 84
- p.Ala161Thr Single submitter ⚠
- p.Ala308Thr Single submitter ⚠
- p.Ala340Glu Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala391Pro Single submitter ⚠
- p.Ala413Thr Single submitter ⚠
- p.Ala442Asp Single submitter ⚠
- p.Ala461Val Single submitter ⚠
- p.Ala524Asp Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg167His Single submitter ⚠
- p.Arg30Cys Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg41Cys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg488Cys Single submitter ⚠
- p.Arg497Cys Single submitter ⚠
- p.Arg528Pro Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Asn143Asp Single submitter ⚠
- p.Asn267Ser Single submitter ⚠
- p.Asn295Ser Single submitter ⚠
- p.Asn483Thr Single submitter ⚠
- p.Asp296His Single submitter ⚠
- p.Asp464Asn Single submitter ⚠
- p.Gln276Glu Single submitter ⚠
- p.Gln357Pro Single submitter ⚠
- p.Glu317Lys Single submitter ⚠
- p.Glu384Gly Single submitter ⚠
- p.Glu406Lys Single submitter ⚠
- p.Glu443Lys Single submitter ⚠
- p.Glu455Gln Single submitter ⚠
- p.Glu518Gly Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Gly205Arg Single submitter ⚠
- p.Gly205Ser Single submitter ⚠
- p.Gly209Ser Single submitter ⚠
- p.Gly420Arg Single submitter ⚠
- p.Gly434Ser Single submitter ⚠
- p.Gly469Ser Single submitter ⚠
- p.Gly487Glu Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.Gly65Ser Single submitter ⚠
- p.Ile157Thr Single submitter ⚠
- p.Ile157Val Single submitter ⚠
- p.Ile310Val Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu273Val Single submitter ⚠
- p.Leu278Val Single submitter ⚠
- p.Leu386Arg Single submitter ⚠
- p.Leu393Phe Single submitter ⚠
- p.Leu508Pro Single submitter ⚠
- p.Lys315Arg Single submitter ⚠
- p.Lys316Arg Single submitter ⚠
- p.Lys329Gln Single submitter ⚠
- p.Lys471Asn Single submitter ⚠
- p.Lys58Thr Single submitter ⚠
- p.Met237Leu Single submitter ⚠
- p.Met359Ile Single submitter ⚠
- p.Met419Thr Single submitter ⚠
- p.Met419Val Single submitter ⚠
- p.Pro118Leu Single submitter ⚠
- p.Pro155Ala Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Ser23Leu Single submitter ⚠
- p.Ser349Tyr Single submitter ⚠
- p.Ser438Leu Single submitter ⚠
- p.Ser451Cys Single submitter ⚠
- p.Thr20Met Single submitter ⚠
- p.Thr22Ile Single submitter ⚠
- p.Thr31Met Single submitter ⚠
- p.Tyr313Cys Single submitter ⚠
- p.Val100Ile Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val243Ala Single submitter ⚠
- p.Val306Gly Single submitter ⚠
- p.Val337Ile Single submitter ⚠
- p.Val88Leu Single submitter ⚠
- p.Val88Met Single submitter ⚠