EPHX2 — 116 ClinVar variants
All ClinVar germline EPHX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
6 Benign · 2 Benign/Likely benign · 10 Likely benign · 98 Uncertain significance
Full EPHX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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.
- EPHX2 p.Arg403Trp Uncertain significance Multiple submitters
- EPHX2 p.Ala18Val Uncertain significance Single submitter
- EPHX2 p.Ala354Val Uncertain significance Single submitter
- EPHX2 p.Ala425Val Uncertain significance Single submitter
- EPHX2 p.Arg403Gly Uncertain significance Single submitter
- EPHX2 p.Arg482Gln Uncertain significance Single submitter
- EPHX2 p.Arg516Met Uncertain significance Single submitter
- EPHX2 p.Arg547Gln Uncertain significance Single submitter
- EPHX2 p.Arg547Trp Uncertain significance Single submitter
- EPHX2 p.Asn431His Uncertain significance Single submitter
- EPHX2 p.Asp39Asn Uncertain significance Single submitter
- EPHX2 p.Glu132Val Uncertain significance Single submitter
- EPHX2 p.Glu389Val Uncertain significance Single submitter
- EPHX2 p.Glu434Ala Uncertain significance Single submitter
- EPHX2 p.Gly21Ala Uncertain significance Single submitter
- EPHX2 p.Gly21Asp Uncertain significance Single submitter
- EPHX2 p.Gly266Arg Uncertain significance Single submitter
- EPHX2 p.Gly48Cys Uncertain significance Single submitter
- EPHX2 p.His420Arg Uncertain significance Single submitter
- EPHX2 p.His506Arg Uncertain significance Single submitter
- EPHX2 p.His506Asn Uncertain significance Single submitter
- EPHX2 p.Ile151Val Uncertain significance Single submitter
- EPHX2 p.Ile375Met Uncertain significance Single submitter
- EPHX2 p.Ile88Leu Uncertain significance Single submitter
- EPHX2 p.Ile96Asn Uncertain significance Single submitter
- EPHX2 p.Leu112Arg Uncertain significance Single submitter
- EPHX2 p.Leu385Pro Uncertain significance Single submitter
- EPHX2 p.Lys406Arg Uncertain significance Single submitter
- EPHX2 p.Met507Ile Uncertain significance Single submitter
- EPHX2 p.Met507Thr Uncertain significance Single submitter
- EPHX2 p.Met528Leu Uncertain significance Single submitter
- EPHX2 p.Met54Leu Uncertain significance Single submitter
- EPHX2 p.Pro462Ala Uncertain significance Single submitter
- EPHX2 p.Ser153Leu Uncertain significance Single submitter
- EPHX2 p.Ser357Arg Uncertain significance Single submitter
- EPHX2 p.Ser402Ile Uncertain significance Single submitter
- EPHX2 p.Thr50Ile Uncertain significance Single submitter
- EPHX2 p.Thr51Ser Uncertain significance Single submitter
- EPHX2 p.Val312Ala Uncertain significance Single submitter
- EPHX2 p.Val430Ile Uncertain significance Single submitter
- EPHX2 p.Val500Ile Uncertain significance Single submitter
Predictors split 60
The independent predictors disagree with each other — read with care.
- EPHX2 p.Arg52Gln Benign/Likely benign Multiple submitters
- EPHX2 p.Ala175Asp Uncertain significance Single submitter
- EPHX2 p.Ala260Ser Uncertain significance Single submitter
- EPHX2 p.Ala493Val Uncertain significance Single submitter
- EPHX2 p.Ala95Val Uncertain significance Single submitter
- EPHX2 p.Arg249Cys Uncertain significance Single submitter
- EPHX2 p.Arg249His Uncertain significance Single submitter
- EPHX2 p.Arg287Trp Uncertain significance Single submitter
- EPHX2 p.Asn359Ser Uncertain significance Single submitter
- EPHX2 p.Asn548Asp Likely benign Single submitter
- EPHX2 p.Asp129Asn Uncertain significance Single submitter
- EPHX2 p.Asp148Asn Uncertain significance Single submitter
- EPHX2 p.Asp171His Uncertain significance Single submitter
- EPHX2 p.Asp322Asn Uncertain significance Single submitter
- EPHX2 p.Cys232Tyr Uncertain significance Single submitter
- EPHX2 p.Cys309Phe Uncertain significance Single submitter
- EPHX2 p.Gln448His Uncertain significance Single submitter
- EPHX2 p.Gln448Pro Uncertain significance Single submitter
- EPHX2 p.Gln536Pro Uncertain significance Single submitter
- EPHX2 p.Glu350Lys Uncertain significance Single submitter
- EPHX2 p.Glu434Gly Uncertain significance Single submitter
- EPHX2 p.Glu445Lys Uncertain significance Single submitter
- EPHX2 p.Glu68Gly Uncertain significance Single submitter
- EPHX2 p.Gly187Arg Uncertain significance Single submitter
-
EPHX2 p.Gly197Ala
Uncertain significance
Single submitter
hypercholesterolemia, familial, 1
- EPHX2 p.His513Arg Uncertain significance Single submitter
- EPHX2 p.Ile539Thr Uncertain significance Single submitter
- EPHX2 p.Leu196Ser Uncertain significance Single submitter
- EPHX2 p.Leu196Val Uncertain significance Single submitter
-
EPHX2 p.Leu213Met
Uncertain significance
Single submitter
hypercholesterolemia, familial, 1
- EPHX2 p.Leu213Val Uncertain significance Single submitter
- EPHX2 p.Leu222Pro Uncertain significance Single submitter
- EPHX2 p.Leu36Pro Uncertain significance Single submitter
- EPHX2 p.Leu401Pro Uncertain significance Single submitter
- EPHX2 p.Leu82His Uncertain significance Single submitter
- EPHX2 p.Met469Thr Uncertain significance Single submitter
- EPHX2 p.Met469Val Uncertain significance Single submitter
- EPHX2 p.Met528Thr Uncertain significance Single submitter
- EPHX2 p.Met555Arg Uncertain significance Single submitter
- EPHX2 p.Phe381Leu Uncertain significance Single submitter
- EPHX2 p.Phe429Ser Uncertain significance Single submitter
- EPHX2 p.Pro104Arg Uncertain significance Single submitter
- EPHX2 p.Pro177Leu Uncertain significance Single submitter
- EPHX2 p.Pro259Ser Uncertain significance Single submitter
- EPHX2 p.Pro371Ser Uncertain significance Single submitter
- EPHX2 p.Pro462His Uncertain significance Single submitter
- EPHX2 p.Ser235Asn Uncertain significance Single submitter
- EPHX2 p.Thr59Lys Uncertain significance Single submitter
- EPHX2 p.Thr77Pro Uncertain significance Single submitter
- EPHX2 p.Trp510Gly Uncertain significance Single submitter
- EPHX2 p.Tyr166Cys Uncertain significance Single submitter
- EPHX2 p.Tyr450Cys Uncertain significance Single submitter
- EPHX2 p.Val156Leu Uncertain significance Single submitter
- EPHX2 p.Val180Ile Uncertain significance Single submitter
- EPHX2 p.Val181Ile Uncertain significance Single submitter
- EPHX2 p.Val451Ala Uncertain significance Single submitter
- EPHX2 p.Val451Met Uncertain significance Single submitter
- EPHX2 p.Val498Met Uncertain significance Single submitter
- EPHX2 p.Val7Leu Uncertain significance Single submitter
-
EPHX2 p.Pro225Leu
Likely benign
No assertion criteria
EPHX2-related disorder
All EPHX2 variants
Benign 6
- c.946-5C>T Single submitter
- p.Ala425= No assertion criteria EPHX2-related disorder
- p.Lys55Arg No assertion criteria EPHX2-related disorder
- p.Lys89Arg No assertion criteria EPHX2-related disorder
- p.Pro361Ser No assertion criteria EPHX2-related disorder
- p.Ser412= No assertion criteria EPHX2-related disorder
Benign/Likely benign 2
- p.Arg52Gln Multiple submitters ⚠
- p.Gly21= Multiple submitters
Likely benign 10
- p.Asn548Asp Single submitter ⚠
- p.Ile186Val Single submitter
- p.Leu417= Single submitter
- p.Lys167Arg Single submitter
- p.Met369Val Single submitter
- p.Pro229Leu Single submitter
- p.Ser415Thr Single submitter
- p.Pro225Leu No assertion criteria EPHX2-related disorder ⚠
- p.Pro303= No assertion criteria EPHX2-related disorder
- p.Ser270= No assertion criteria EPHX2-related disorder
Uncertain significance 98
- p.Arg403Trp Multiple submitters ⚠
- p.Ala175Asp Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala260Ser Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala425Val Single submitter ⚠
- p.Ala493Val Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Arg287Trp Single submitter ⚠
- p.Arg403Gly Single submitter ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg516Met Single submitter ⚠
- p.Arg547Gln Single submitter ⚠
- p.Arg547Trp Single submitter ⚠
- p.Asn359Ser Single submitter ⚠
- p.Asn431His Single submitter ⚠
- p.Asp129Asn Single submitter ⚠
- p.Asp148Asn Single submitter ⚠
- p.Asp171His Single submitter ⚠
- p.Asp322Asn Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Cys232Tyr Single submitter ⚠
- p.Cys309Phe Single submitter ⚠
- p.Gln448His Single submitter ⚠
- p.Gln448Pro Single submitter ⚠
- p.Gln536Pro Single submitter ⚠
- p.Glu132Val Single submitter ⚠
- p.Glu350Lys Single submitter ⚠
- p.Glu389Val Single submitter ⚠
- p.Glu434Ala Single submitter ⚠
- p.Glu434Gly Single submitter ⚠
- p.Glu445Lys Single submitter ⚠
- p.Glu68Gly Single submitter ⚠
- p.Gly187Arg Single submitter ⚠
- p.Gly197Ala Single submitter hypercholesterolemia, familial, 1 ⚠
- p.Gly21Ala Single submitter ⚠
- p.Gly21Asp Single submitter ⚠
- p.Gly266Arg Single submitter ⚠
- p.Gly48Cys Single submitter ⚠
- p.His420Arg Single submitter ⚠
- p.His506Arg Single submitter ⚠
- p.His506Asn Single submitter ⚠
- p.His513Arg Single submitter ⚠
- p.Ile151Val Single submitter ⚠
- p.Ile375Met Single submitter ⚠
- p.Ile539Thr Single submitter ⚠
- p.Ile88Leu Single submitter ⚠
- p.Ile96Asn Single submitter ⚠
- p.Leu112Arg Single submitter ⚠
- p.Leu196Ser Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Leu213Met Single submitter hypercholesterolemia, familial, 1 ⚠
- p.Leu213Val Single submitter ⚠
- p.Leu222Pro Single submitter ⚠
- p.Leu36Pro Single submitter ⚠
- p.Leu385Pro Single submitter ⚠
- p.Leu401Pro Single submitter ⚠
- p.Leu82His Single submitter ⚠
- p.Lys406Arg Single submitter ⚠
- p.Met469Thr Single submitter ⚠
- p.Met469Val Single submitter ⚠
- p.Met507Ile Single submitter ⚠
- p.Met507Thr Single submitter ⚠
- p.Met528Leu Single submitter ⚠
- p.Met528Thr Single submitter ⚠
- p.Met54Leu Single submitter ⚠
- p.Met555Arg Single submitter ⚠
- p.Phe381Leu Single submitter ⚠
- p.Phe429Ser Single submitter ⚠
- p.Pro104Arg Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro259Ser Single submitter ⚠
- p.Pro371Ser Single submitter ⚠
- p.Pro462Ala Single submitter ⚠
- p.Pro462His Single submitter ⚠
- p.Ser153Leu Single submitter ⚠
- p.Ser235Asn Single submitter ⚠
- p.Ser357Arg Single submitter ⚠
- p.Ser402Ile Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr51Ser Single submitter ⚠
- p.Thr59Lys Single submitter ⚠
- p.Thr77Pro Single submitter ⚠
- p.Trp510Gly Single submitter ⚠
- p.Tyr166Cys Single submitter ⚠
- p.Tyr450Cys Single submitter ⚠
- p.Val156Leu Single submitter ⚠
- p.Val180Ile Single submitter ⚠
- p.Val181Ile Single submitter ⚠
- p.Val312Ala Single submitter ⚠
- p.Val430Ile Single submitter ⚠
- p.Val451Ala Single submitter ⚠
- p.Val451Met Single submitter ⚠
- p.Val498Met Single submitter ⚠
- p.Val500Ile Single submitter ⚠
- p.Val7Leu Single submitter ⚠