EPHX1 — 126 ClinVar variants
All ClinVar germline EPHX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
1 Likely pathogenic · 46 Benign · 11 Likely benign · 68 Uncertain significance
Full EPHX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHX1 p.Ala442Thr Uncertain significance Single submitter
- EPHX1 p.Arg214Trp Uncertain significance Single submitter
- EPHX1 p.Arg21Gln Uncertain significance Single submitter
- EPHX1 p.Arg21Trp Uncertain significance Single submitter
- EPHX1 p.Arg267Cys Uncertain significance Single submitter
- EPHX1 p.Arg267His Uncertain significance Single submitter
- EPHX1 p.Arg372His Uncertain significance Single submitter
- EPHX1 p.Arg389Trp Uncertain significance Single submitter
- EPHX1 p.Arg446His Uncertain significance Single submitter
- EPHX1 p.Asn169Lys Uncertain significance Single submitter
- EPHX1 p.Asn315Ser Uncertain significance Single submitter
- EPHX1 p.Asp124Asn Uncertain significance Single submitter
- EPHX1 p.Asp22Gly Uncertain significance Single submitter
- EPHX1 p.Asp46Gly Uncertain significance Single submitter
- EPHX1 p.Asp62Tyr Uncertain significance Single submitter
- EPHX1 p.Asp78Asn Uncertain significance Single submitter
- EPHX1 p.Gln134Lys Uncertain significance Single submitter
- EPHX1 p.Gln443Leu Uncertain significance Single submitter
- EPHX1 p.Gly12Ser Uncertain significance Single submitter
- EPHX1 p.Gly298Asp Uncertain significance Single submitter
- EPHX1 p.Gly32Glu Uncertain significance Single submitter
- EPHX1 p.Gly365Asp Uncertain significance Single submitter
- EPHX1 p.Gly379Glu Uncertain significance Single submitter
- EPHX1 p.His129Gln Uncertain significance Single submitter
- EPHX1 p.His247Tyr Uncertain significance Single submitter
- EPHX1 p.His387Tyr Uncertain significance Single submitter
- EPHX1 p.His82Gln Uncertain significance Single submitter
- EPHX1 p.Ile302Thr Uncertain significance Single submitter
- EPHX1 p.Leu264Val Uncertain significance Single submitter
- EPHX1 p.Lys328Glu Uncertain significance Single submitter
- EPHX1 p.Lys416Arg Uncertain significance Single submitter
- EPHX1 p.Met300Val Uncertain significance Single submitter
- EPHX1 p.Met383Leu Uncertain significance Single submitter
- EPHX1 p.Phe13Leu Uncertain significance Single submitter
- EPHX1 p.Phe18Ile Uncertain significance Single submitter
- EPHX1 p.Pro133Arg Uncertain significance Single submitter
- EPHX1 p.Pro307Ser Uncertain significance Single submitter
- EPHX1 p.Ser194Pro Uncertain significance Single submitter
- EPHX1 p.Ser201Leu Uncertain significance Single submitter
- EPHX1 p.Ser20Tyr Uncertain significance Single submitter
- EPHX1 p.Ser258Ala Uncertain significance Single submitter
- EPHX1 p.Ser258Pro Uncertain significance Single submitter
-
EPHX1 p.Thr275Ala
Uncertain significance
Single submitter
hypercholanemia, familial 1
- EPHX1 p.Thr55Met Uncertain significance Single submitter
- EPHX1 p.Tyr221Phe Uncertain significance Single submitter
- EPHX1 p.Val180Ala Uncertain significance Single submitter
- EPHX1 p.Val239Leu Uncertain significance Single submitter
- EPHX1 p.Val243Met Uncertain significance Single submitter
- EPHX1 p.Val285Ile Uncertain significance Single submitter
- EPHX1 p.Val285Leu Uncertain significance Single submitter
- EPHX1 p.Val392Phe Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- EPHX1 p.Arg71His Benign Multiple submitters
- EPHX1 p.Arg206Ser Uncertain significance Single submitter
- EPHX1 p.Arg454Trp Uncertain significance Single submitter
- EPHX1 p.Asp353Asn Uncertain significance Single submitter
- EPHX1 p.Asp353Tyr Uncertain significance Single submitter
- EPHX1 p.Cys232Arg Uncertain significance Single submitter
- EPHX1 p.Glu388Val Uncertain significance Single submitter
- EPHX1 p.Met359Thr Uncertain significance Single submitter
- EPHX1 p.Phe435Leu Uncertain significance Single submitter
- EPHX1 p.Pro141Ser Uncertain significance Single submitter
- EPHX1 p.Pro162Thr Uncertain significance Single submitter
- EPHX1 p.Ser424Phe Uncertain significance Single submitter
- EPHX1 p.Thr364Ile Uncertain significance Single submitter
- EPHX1 p.Trp412Arg Uncertain significance Single submitter
All EPHX1 variants
Likely pathogenic 1
- p.Gly84Asp Single submitter hereditary lipodystrophy
Benign 46
- c.1041-181G>A Multiple submitters
- c.183+20G>A Multiple submitters
- c.364+114G>C Multiple submitters
- c.365-3C>A Multiple submitters
- c.592+34G>A Multiple submitters
- c.-5-29G>A Multiple submitters
- c.-5-45G>A Multiple submitters
- c.*35A>C Multiple submitters
- p.Ala433= Multiple submitters
- p.Arg71His Multiple submitters ⚠
- p.Asn357= Multiple submitters
- p.His139Arg Multiple submitters
- p.His247= Multiple submitters
- p.Leu254= Multiple submitters
- p.Leu406= Multiple submitters
- p.Lys119= Multiple submitters
- p.Lys416= Multiple submitters
- p.Pro284= Multiple submitters
- p.Pro438= Multiple submitters
- p.Ser450= Multiple submitters
- p.Tyr113His Multiple submitters cystic fibrosis
- p.Val413= Multiple submitters
- c.1166+205G>T Single submitter
- c.1166+206C>A Single submitter
- c.1167-170A>G Single submitter
- c.184-109G>T Single submitter
- c.184-214_184-213del Single submitter
- c.184-216_184-213del Single submitter
- c.184-219_184-214del Single submitter
- c.184-219_184-215del Single submitter
- c.184-220del Single submitter
- c.184-220dup Single submitter
- c.184-225_184-220del Single submitter
- c.365-114C>G Single submitter
- c.722+149C>T Single submitter
- c.722+154A>G Single submitter
- c.722+21GT[19] Single submitter
- c.722+21GT[20] Single submitter
- c.722+21GT[21] Single submitter
- c.722+21GT[22] Single submitter
- c.723-207T>C Single submitter
- c.931+126G>A Single submitter
- p.Arg49Cys Single submitter
- p.Thr408Met Single submitter
- p.Asp68= No assertion criteria EPHX1-related disorder
- p.Thr335Met No assertion criteria neutropenia
Likely benign 11
- p.Phe101= Multiple submitters
- c.722+21GT[13] Single submitter
- c.722+21GT[14] Single submitter
- c.722+21GT[15] Single submitter
- c.722+21GT[24] Single submitter
- c.723-16CT[3] Single submitter
- p.Thr204= Single submitter
- p.Val358Ile Single submitter
- p.Asn256Lys No assertion criteria EPHX1-related disorder
- p.His129= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Leu260= No assertion criteria EPHX1-related disorder
Uncertain significance 68
- p.Ala442Thr Single submitter ⚠
- p.Arg206Ser Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg21Gln Single submitter ⚠
- p.Arg21Trp Single submitter ⚠
- p.Arg267Cys Single submitter ⚠
- p.Arg267His Single submitter ⚠
- p.Arg372His Single submitter ⚠
- p.Arg389Trp Single submitter ⚠
- p.Arg446His Single submitter ⚠
- p.Arg454Trp Single submitter ⚠
- p.Arg98Trp Single submitter
- p.Asn169Lys Single submitter ⚠
- p.Asn315Ser Single submitter ⚠
- p.Asp124Asn Single submitter ⚠
- p.Asp22Gly Single submitter ⚠
- p.Asp353Asn Single submitter ⚠
- p.Asp353Tyr Single submitter ⚠
- p.Asp46Gly Single submitter ⚠
- p.Asp62Tyr Single submitter ⚠
- p.Asp78Asn Single submitter ⚠
- p.Cys232Arg Single submitter ⚠
- p.Gln134Lys Single submitter ⚠
- p.Gln443Leu Single submitter ⚠
- p.Glu388Val Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly198Glu Single submitter
- p.Gly298Asp Single submitter ⚠
- p.Gly32Glu Single submitter ⚠
- p.Gly365Asp Single submitter ⚠
- p.Gly379Glu Single submitter ⚠
- p.His129Gln Single submitter ⚠
- p.His247Tyr Single submitter ⚠
- p.His387Tyr Single submitter ⚠
- p.His82Gln Single submitter ⚠
- p.Ile302Thr Single submitter ⚠
- p.Leu264Val Single submitter ⚠
- p.Lys328Glu Single submitter ⚠
- p.Lys416Arg Single submitter ⚠
- p.Met250Thr Single submitter
- p.Met300Val Single submitter ⚠
- p.Met359Thr Single submitter ⚠
- p.Met383Leu Single submitter ⚠
- p.Phe13Leu Single submitter ⚠
- p.Phe18Ile Single submitter ⚠
- p.Phe435Leu Single submitter ⚠
- p.Pro133Arg Single submitter ⚠
- p.Pro141Ser Single submitter ⚠
- p.Pro162Thr Single submitter ⚠
- p.Pro307Ser Single submitter ⚠
- p.Pro402Ala Single submitter
- p.Ser194Pro Single submitter ⚠
- p.Ser201Leu Single submitter ⚠
- p.Ser20Tyr Single submitter ⚠
- p.Ser258Ala Single submitter ⚠
- p.Ser258Pro Single submitter ⚠
- p.Ser424Phe Single submitter ⚠
- p.Thr275Ala Single submitter hypercholanemia, familial 1 ⚠
- p.Thr364Ile Single submitter ⚠
- p.Thr55Met Single submitter ⚠
- p.Trp412Arg Single submitter ⚠
- p.Tyr221Phe Single submitter ⚠
- p.Val180Ala Single submitter ⚠
- p.Val239Leu Single submitter ⚠
- p.Val243Met Single submitter ⚠
- p.Val285Ile Single submitter ⚠
- p.Val285Leu Single submitter ⚠
- p.Val392Phe Single submitter ⚠