EHD3 — 76 ClinVar variants
All ClinVar germline EHD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
3 Benign · 3 Likely benign · 70 Uncertain significance
Full EHD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHD3 p.Ala127Thr Uncertain significance Single submitter
- EHD3 p.Ala413Ser Uncertain significance Single submitter
- EHD3 p.Ala437Thr Uncertain significance Single submitter
- EHD3 p.Arg231Gln Uncertain significance Single submitter
- EHD3 p.Arg251Gln Uncertain significance Single submitter
- EHD3 p.Arg268Trp Uncertain significance Single submitter
- EHD3 p.Arg292His Uncertain significance Single submitter
- EHD3 p.Arg404Gln Uncertain significance Single submitter
- EHD3 p.Arg41His Uncertain significance Single submitter
- EHD3 p.Arg41Ser Uncertain significance Single submitter
- EHD3 p.Arg87Met Uncertain significance Single submitter
- EHD3 p.Asn326Lys Uncertain significance Single submitter
- EHD3 p.Asn519Ser Uncertain significance Single submitter
- EHD3 p.Asp435Asn Uncertain significance Single submitter
- EHD3 p.Asp444Glu Uncertain significance Single submitter
- EHD3 p.Asp489Asn Uncertain significance Single submitter
- EHD3 p.Asp9Asn Uncertain significance Single submitter
- EHD3 p.Gln283His Uncertain significance Single submitter
- EHD3 p.Glu16Lys Uncertain significance Single submitter
- EHD3 p.Glu337Asp Uncertain significance Single submitter
- EHD3 p.Glu400Gln Uncertain significance Single submitter
- EHD3 p.Gly323Arg Uncertain significance Single submitter
- EHD3 p.His260Gln Uncertain significance Single submitter
- EHD3 p.Ile390Thr Uncertain significance Single submitter
- EHD3 p.Ile490Thr Uncertain significance Single submitter
- EHD3 p.Ile98Asn Uncertain significance Single submitter
- EHD3 p.Leu240Ser Uncertain significance Single submitter
- EHD3 p.Leu386Val Uncertain significance Single submitter
- EHD3 p.Leu517Val Uncertain significance Single submitter
- EHD3 p.Leu5Arg Uncertain significance Single submitter
- EHD3 p.Phe171Ser Uncertain significance Single submitter
- EHD3 p.Pro319Ser Uncertain significance Single submitter
- EHD3 p.Pro457Leu Uncertain significance Single submitter
- EHD3 p.Pro59Ser Uncertain significance Single submitter
- EHD3 p.Ser369Thr Uncertain significance Single submitter
- EHD3 p.Val382Leu Uncertain significance Single submitter
- EHD3 p.Val533Ala Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- EHD3 p.Ala131Thr Uncertain significance Single submitter
- EHD3 p.Ala290Val Uncertain significance Single submitter
- EHD3 p.Ala99Val Uncertain significance Single submitter
- EHD3 p.Arg12Gly Uncertain significance Single submitter
- EHD3 p.Arg280Lys Uncertain significance Single submitter
- EHD3 p.Arg344Trp Uncertain significance Single submitter
- EHD3 p.Arg398Leu Uncertain significance Single submitter
- EHD3 p.Arg473Cys Uncertain significance Single submitter
- EHD3 p.Arg473His Uncertain significance Single submitter
- EHD3 p.Asn478Ser Uncertain significance Single submitter
- EHD3 p.Asp449Asn Uncertain significance Single submitter
- EHD3 p.Asp459Glu Uncertain significance Single submitter
- EHD3 p.Asp499Asn Uncertain significance Single submitter
- EHD3 p.Gln362Glu Uncertain significance Single submitter
- EHD3 p.Gln81His Uncertain significance Single submitter
- EHD3 p.Glu225Lys Uncertain significance Single submitter
- EHD3 p.Glu400Asp Uncertain significance Single submitter
- EHD3 p.Glu438Asp Uncertain significance Single submitter
- EHD3 p.Glu520Lys Uncertain significance Single submitter
- EHD3 p.Gly6Cys Uncertain significance Single submitter
- EHD3 p.His388Tyr Uncertain significance Single submitter
- EHD3 p.His424Tyr Uncertain significance Single submitter
- EHD3 p.Ile149Phe Uncertain significance Single submitter
- EHD3 p.Leu262Val Uncertain significance Single submitter
- EHD3 p.Leu356Gln Uncertain significance Single submitter
- EHD3 p.Lys30Asn Uncertain significance Single submitter
- EHD3 p.Lys329Gln Uncertain significance Single submitter
- EHD3 p.Lys370Asn Uncertain significance Single submitter
- EHD3 p.Pro528Leu Uncertain significance Single submitter
- EHD3 p.Ser320Leu Uncertain significance Single submitter
- EHD3 p.Val252Ile Uncertain significance Single submitter
- EHD3 p.Val440Met Uncertain significance Single submitter
- EHD3 p.Val458Gly Uncertain significance Single submitter
All EHD3 variants
Benign 3
- c.502+9C>T Multiple submitters
- p.Arg215= Multiple submitters
- p.Gly429= Single submitter
Likely benign 3
- p.Arg135= Single submitter
- p.Asn295= Single submitter
- p.Ser31Thr Single submitter
Uncertain significance 70
- p.Ala127Thr Single submitter ⚠
- p.Ala131Thr Single submitter ⚠
- p.Ala290Val Single submitter ⚠
- p.Ala413Ser Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg12Gly Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg268Trp Single submitter ⚠
- p.Arg280Lys Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg344Trp Single submitter ⚠
- p.Arg398Leu Single submitter ⚠
- p.Arg404Gln Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg41Ser Single submitter ⚠
- p.Arg473Cys Single submitter ⚠
- p.Arg473His Single submitter ⚠
- p.Arg87Met Single submitter ⚠
- p.Asn326Lys Single submitter ⚠
- p.Asn478Ser Single submitter ⚠
- p.Asn519Ser Single submitter ⚠
- p.Asp435Asn Single submitter ⚠
- p.Asp444Glu Single submitter ⚠
- p.Asp449Asn Single submitter ⚠
- p.Asp459Glu Single submitter ⚠
- p.Asp489Asn Single submitter ⚠
- p.Asp499Asn Single submitter ⚠
- p.Asp9Asn Single submitter ⚠
- p.Gln283His Single submitter ⚠
- p.Gln362Glu Single submitter ⚠
- p.Gln81His Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Glu225Lys Single submitter ⚠
- p.Glu337Asp Single submitter ⚠
- p.Glu400Asp Single submitter ⚠
- p.Glu400Gln Single submitter ⚠
- p.Glu438Asp Single submitter ⚠
- p.Glu520Lys Single submitter ⚠
- p.Gly323Arg Single submitter ⚠
- p.Gly6Cys Single submitter ⚠
- p.His260Gln Single submitter ⚠
- p.His388Tyr Single submitter ⚠
- p.His424Tyr Single submitter ⚠
- p.Ile149Phe Single submitter ⚠
- p.Ile390Thr Single submitter ⚠
- p.Ile490Thr Single submitter ⚠
- p.Ile98Asn Single submitter ⚠
- p.Leu240Ser Single submitter ⚠
- p.Leu262Val Single submitter ⚠
- p.Leu356Gln Single submitter ⚠
- p.Leu386Val Single submitter ⚠
- p.Leu517Val Single submitter ⚠
- p.Leu5Arg Single submitter ⚠
- p.Lys30Asn Single submitter ⚠
- p.Lys329Gln Single submitter ⚠
- p.Lys370Asn Single submitter ⚠
- p.Phe171Ser Single submitter ⚠
- p.Pro319Ser Single submitter ⚠
- p.Pro457Leu Single submitter ⚠
- p.Pro528Leu Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Ser320Leu Single submitter ⚠
- p.Ser369Thr Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val382Leu Single submitter ⚠
- p.Val440Met Single submitter ⚠
- p.Val458Gly Single submitter ⚠
- p.Val533Ala Single submitter ⚠