EHD1 — 68 ClinVar variants
All ClinVar germline EHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
7 Benign · 6 Likely benign · 55 Uncertain significance
Full EHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHD1 p.Ala304Gly Uncertain significance Single submitter
- EHD1 p.Ala308Thr Uncertain significance Single submitter
- EHD1 p.Ala373Val Uncertain significance Single submitter
- EHD1 p.Ala413Val Uncertain significance Single submitter
- EHD1 p.Arg184His Uncertain significance Single submitter
- EHD1 p.Arg300Gln Uncertain significance Single submitter
- EHD1 p.Arg302Trp Uncertain significance Single submitter
- EHD1 p.Arg398Gln Uncertain significance Single submitter
- EHD1 p.Asn130Lys Uncertain significance Single submitter
- EHD1 p.Asn134Lys Uncertain significance Single submitter
- EHD1 p.Asn57Ser Uncertain significance Single submitter
- EHD1 p.Glu400Lys Uncertain significance Single submitter
- EHD1 p.Gly107Asp Uncertain significance Single submitter
- EHD1 p.Gly89Glu Uncertain significance Single submitter
- EHD1 p.His39Tyr Uncertain significance Single submitter
- EHD1 p.Ile244Val Uncertain significance Single submitter
- EHD1 p.Ile390Val Uncertain significance Single submitter
- EHD1 p.Ile508Val Uncertain significance Single submitter
- EHD1 p.Lys71Arg Uncertain significance Single submitter
- EHD1 p.Met385Thr Uncertain significance Single submitter
- EHD1 p.Phe368Cys Uncertain significance Single submitter
- EHD1 p.Pro144Ala Uncertain significance Single submitter
- EHD1 p.Pro265Ser Uncertain significance Single submitter
- EHD1 p.Pro421Leu Uncertain significance Single submitter
- EHD1 p.Pro59Leu Uncertain significance Single submitter
- EHD1 p.Pro84Leu Uncertain significance Single submitter
- EHD1 p.Ser197Ala Uncertain significance Single submitter
- EHD1 p.Ser326Asn Uncertain significance Single submitter
- EHD1 p.Val490Met Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- EHD1 p.Ala465Thr Uncertain significance Single submitter
- EHD1 p.Ala99Ser Uncertain significance Single submitter
- EHD1 p.Arg344His Uncertain significance Single submitter
- EHD1 p.Arg357Cys Uncertain significance Single submitter
- EHD1 p.Arg41His Uncertain significance Single submitter
- EHD1 p.Arg76Gln Uncertain significance Single submitter
- EHD1 p.Asp389Asn Uncertain significance Single submitter
- EHD1 p.Asp82Glu Uncertain significance Single submitter
- EHD1 p.Glu16Ala Uncertain significance Single submitter
- EHD1 p.Glu225Lys Uncertain significance Single submitter
- EHD1 p.Gly336Val Uncertain significance Single submitter
- EHD1 p.Gly425Ser Uncertain significance Single submitter
- EHD1 p.Gly431Ser Uncertain significance Single submitter
- EHD1 p.Ile151Val Uncertain significance Single submitter
- EHD1 p.Ile204Met Uncertain significance Single submitter
- EHD1 p.Ile282Val Uncertain significance Single submitter
- EHD1 p.Leu403Pro Uncertain significance Single submitter
- EHD1 p.Leu495Arg Uncertain significance Single submitter
- EHD1 p.Pro142Ser Uncertain significance Single submitter
- EHD1 p.Pro446Leu Uncertain significance Single submitter
- EHD1 p.Ser402Thr Uncertain significance Single submitter
- EHD1 p.Ser456Tyr Uncertain significance Single submitter
- EHD1 p.Thr226Ala Uncertain significance Single submitter
- EHD1 p.Val100Ile Uncertain significance Single submitter
- EHD1 p.Val145Ile Uncertain significance Single submitter
- EHD1 p.Val526Leu Uncertain significance Single submitter
All EHD1 variants
Benign 7
Likely benign 6
Uncertain significance 55
- p.Ala304Gly Single submitter ⚠
- p.Ala308Thr Single submitter ⚠
- p.Ala373Val Single submitter ⚠
- p.Ala413Val Single submitter ⚠
- p.Ala465Thr Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg302Trp Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Asn130Lys Single submitter ⚠
- p.Asn134Lys Single submitter ⚠
- p.Asn57Ser Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.Glu16Ala Single submitter ⚠
- p.Glu225Lys Single submitter ⚠
- p.Glu400Lys Single submitter ⚠
- p.Gly107Asp Single submitter ⚠
- p.Gly336Val Single submitter ⚠
- p.Gly425Ser Single submitter ⚠
- p.Gly431Ser Single submitter ⚠
- p.Gly89Glu Single submitter ⚠
- p.His39Tyr Single submitter ⚠
- p.Ile151Val Single submitter ⚠
- p.Ile204Met Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile390Val Single submitter ⚠
- p.Ile508Val Single submitter ⚠
- p.Leu403Pro Single submitter ⚠
- p.Leu495Arg Single submitter ⚠
- p.Lys71Arg Single submitter ⚠
- p.Met385Thr Single submitter ⚠
- p.Phe368Cys Single submitter ⚠
- p.Pro142Ser Single submitter ⚠
- p.Pro144Ala Single submitter ⚠
- p.Pro265Ser Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Ser197Ala Single submitter ⚠
- p.Ser326Asn Single submitter ⚠
- p.Ser402Thr Single submitter ⚠
- p.Ser456Tyr Single submitter ⚠
- p.Thr226Ala Single submitter ⚠
- p.Val100Ile Single submitter ⚠
- p.Val145Ile Single submitter ⚠
- p.Val490Met Single submitter ⚠
- p.Val526Leu Single submitter ⚠