EHD4 — 83 ClinVar variants
All ClinVar germline EHD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
2 Likely benign · 81 Uncertain significance
Full EHD4 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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHD4 p.Ala194Gly Uncertain significance Single submitter
- EHD4 p.Ala304Val Uncertain significance Single submitter
- EHD4 p.Ala505Pro Uncertain significance Single submitter
- EHD4 p.Ala9Glu Uncertain significance Single submitter
- EHD4 p.Arg14Ser Uncertain significance Single submitter
- EHD4 p.Arg234Gln Uncertain significance Single submitter
- EHD4 p.Arg254His Uncertain significance Single submitter
- EHD4 p.Asn146Ser Uncertain significance Single submitter
- EHD4 p.Asn462Asp Uncertain significance Single submitter
- EHD4 p.Asp173Gly Uncertain significance Single submitter
- EHD4 p.Asp186Asn Uncertain significance Single submitter
- EHD4 p.Asp370Tyr Uncertain significance Single submitter
- EHD4 p.Asp418Asn Uncertain significance Single submitter
- EHD4 p.Gln266Arg Uncertain significance Single submitter
- EHD4 p.Gln279Arg Uncertain significance Single submitter
- EHD4 p.Gln286Arg Uncertain significance Single submitter
- EHD4 p.Gln344Arg Uncertain significance Single submitter
- EHD4 p.Gly237Arg Uncertain significance Single submitter
- EHD4 p.Gly467Asp Uncertain significance Single submitter
- EHD4 p.His375Pro Uncertain significance Single submitter
- EHD4 p.Ile351Val Uncertain significance Single submitter
- EHD4 p.Leu191Pro Uncertain significance Single submitter
- EHD4 p.Leu253Arg Uncertain significance Single submitter
- EHD4 p.Leu273Pro Uncertain significance Single submitter
- EHD4 p.Leu454Val Uncertain significance Single submitter
- EHD4 p.Leu515Phe Uncertain significance Single submitter
- EHD4 p.Met104Ile Uncertain significance Single submitter
- EHD4 p.Met140Thr Uncertain significance Single submitter
- EHD4 p.Met63Arg Uncertain significance Single submitter
- EHD4 p.Phe135Leu Uncertain significance Single submitter
- EHD4 p.Pro250Thr Uncertain significance Single submitter
- EHD4 p.Ser99Cys Uncertain significance Single submitter
- EHD4 p.Thr268Met Uncertain significance Single submitter
- EHD4 p.Tyr236Cys Uncertain significance Single submitter
- EHD4 p.Tyr43Asp Uncertain significance Single submitter
- EHD4 p.Val220Met Uncertain significance Single submitter
- EHD4 p.Val24Gly Uncertain significance Single submitter
- EHD4 p.Val444Met Uncertain significance Single submitter
- EHD4 p.Val483Ile Uncertain significance Single submitter
- EHD4 p.Val529Met Uncertain significance Single submitter
- EHD4 p.Val67Met Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- EHD4 p.Ala276Thr Uncertain significance Single submitter
- EHD4 p.Ala437Thr Uncertain significance Single submitter
- EHD4 p.Arg211Trp Uncertain significance Single submitter
- EHD4 p.Arg272Gln Uncertain significance Single submitter
- EHD4 p.Arg272Trp Uncertain significance Single submitter
- EHD4 p.Arg283Thr Uncertain significance Single submitter
- EHD4 p.Arg7Gln Uncertain significance Single submitter
- EHD4 p.Asn469Lys Uncertain significance Single submitter
- EHD4 p.Asn481Ser Uncertain significance Single submitter
- EHD4 p.Asp215Asn Uncertain significance Single submitter
- EHD4 p.Cys141Gly Uncertain significance Single submitter
- EHD4 p.Glu422Lys Uncertain significance Single submitter
- EHD4 p.Glu439Gly Uncertain significance Single submitter
- EHD4 p.Glu441Lys Uncertain significance Single submitter
- EHD4 p.Gly17Cys Uncertain significance Single submitter
- EHD4 p.Gly26Cys Uncertain significance Single submitter
- EHD4 p.His375Tyr Uncertain significance Single submitter
- EHD4 p.Ile513Phe Uncertain significance Single submitter
- EHD4 p.Ile78Leu Uncertain significance Single submitter
- EHD4 p.Leu31Phe Uncertain significance Single submitter
- EHD4 p.Leu399Phe Uncertain significance Single submitter
- EHD4 p.Leu81Val Uncertain significance Single submitter
- EHD4 p.Lys308Arg Uncertain significance Single submitter
- EHD4 p.Lys471Arg Uncertain significance Single submitter
- EHD4 p.Lys478Arg Uncertain significance Single submitter
- EHD4 p.Lys512Glu Uncertain significance Single submitter
- EHD4 p.Met63Val Uncertain significance Single submitter
- EHD4 p.Phe356Leu Uncertain significance Single submitter
- EHD4 p.Pro264Arg Uncertain significance Single submitter
- EHD4 p.Pro526Arg Uncertain significance Single submitter
- EHD4 p.Ser129Gly Uncertain significance Single submitter
- EHD4 p.Ser204Leu Uncertain significance Single submitter
- EHD4 p.Ser459Trp Uncertain significance Single submitter
- EHD4 p.Ser532Leu Uncertain significance Single submitter
- EHD4 p.Ser532Pro Uncertain significance Single submitter
- EHD4 p.Thr409Arg Uncertain significance Single submitter
- EHD4 p.Tyr369Cys Uncertain significance Single submitter
- EHD4 p.Val385Ala Uncertain significance Single submitter
- EHD4 p.Val385Leu Uncertain significance Single submitter
- EHD4 p.Val444Leu Uncertain significance Single submitter
All EHD4 variants
Likely benign 2
- p.Thr405Met Single submitter
- p.Thr407Met Single submitter
Uncertain significance 81
- p.Ala194Gly Single submitter ⚠
- p.Ala276Thr Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala505Pro Single submitter ⚠
- p.Ala9Glu Single submitter ⚠
- p.Arg14Ser Single submitter ⚠
- p.Arg211Trp Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg254His Single submitter ⚠
- p.Arg272Gln Single submitter ⚠
- p.Arg272Trp Single submitter ⚠
- p.Arg283Thr Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn462Asp Single submitter ⚠
- p.Asn469Lys Single submitter ⚠
- p.Asn481Ser Single submitter ⚠
- p.Asp173Gly Single submitter ⚠
- p.Asp186Asn Single submitter ⚠
- p.Asp215Asn Single submitter ⚠
- p.Asp370Tyr Single submitter ⚠
- p.Asp418Asn Single submitter ⚠
- p.Cys141Gly Single submitter ⚠
- p.Gln266Arg Single submitter ⚠
- p.Gln279Arg Single submitter ⚠
- p.Gln286Arg Single submitter ⚠
- p.Gln344Arg Single submitter ⚠
- p.Glu422Lys Single submitter ⚠
- p.Glu439Gly Single submitter ⚠
- p.Glu441Lys Single submitter ⚠
- p.Gly17Cys Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly26Cys Single submitter ⚠
- p.Gly467Asp Single submitter ⚠
- p.His375Pro Single submitter ⚠
- p.His375Tyr Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile513Phe Single submitter ⚠
- p.Ile78Leu Single submitter ⚠
- p.Leu191Pro Single submitter ⚠
- p.Leu253Arg Single submitter ⚠
- p.Leu273Pro Single submitter ⚠
- p.Leu31Phe Single submitter ⚠
- p.Leu399Phe Single submitter ⚠
- p.Leu454Val Single submitter ⚠
- p.Leu515Phe Single submitter ⚠
- p.Leu81Val Single submitter ⚠
- p.Lys308Arg Single submitter ⚠
- p.Lys471Arg Single submitter ⚠
- p.Lys478Arg Single submitter ⚠
- p.Lys512Glu Single submitter ⚠
- p.Met104Ile Single submitter ⚠
- p.Met140Thr Single submitter ⚠
- p.Met63Arg Single submitter ⚠
- p.Met63Val Single submitter ⚠
- p.Phe135Leu Single submitter ⚠
- p.Phe356Leu Single submitter ⚠
- p.Pro250Thr Single submitter ⚠
- p.Pro264Arg Single submitter ⚠
- p.Pro526Arg Single submitter ⚠
- p.Ser129Gly Single submitter ⚠
- p.Ser204Leu Single submitter ⚠
- p.Ser459Trp Single submitter ⚠
- p.Ser532Leu Single submitter ⚠
- p.Ser532Pro Single submitter ⚠
- p.Ser99Cys Single submitter ⚠
- p.Thr268Met Single submitter ⚠
- p.Thr409Arg Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠
- p.Tyr369Cys Single submitter ⚠
- p.Tyr43Asp Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val24Gly Single submitter ⚠
- p.Val385Ala Single submitter ⚠
- p.Val385Leu Single submitter ⚠
- p.Val444Leu Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val483Ile Single submitter ⚠
- p.Val529Met Single submitter ⚠
- p.Val67Met Single submitter ⚠