EPX — 154 ClinVar variants
All ClinVar germline EPX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
8 Benign · 9 Likely benign · 137 Uncertain significance
Full EPX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPX p.Ala168Val Uncertain significance Single submitter
- EPX p.Ala17Thr Uncertain significance Single submitter
- EPX p.Ala304Val Uncertain significance Single submitter
- EPX p.Ala618Asp Uncertain significance Single submitter
- EPX p.Ala665Val Uncertain significance Single submitter
- EPX p.Ala691Val Uncertain significance Single submitter
- EPX p.Ala82Val Uncertain significance Single submitter
- EPX p.Arg108Trp Uncertain significance Single submitter
- EPX p.Arg151Gln Uncertain significance Single submitter
- EPX p.Arg157Ser Uncertain significance Single submitter
- EPX p.Arg191Ser Uncertain significance Single submitter
- EPX p.Arg200Gln Uncertain significance Single submitter
- EPX p.Arg218Gly Uncertain significance Single submitter
- EPX p.Arg218His Uncertain significance Single submitter
- EPX p.Arg220Gln Uncertain significance Single submitter
- EPX p.Arg279His Uncertain significance Single submitter
- EPX p.Arg297Gly Uncertain significance Single submitter
- EPX p.Arg324Gln Uncertain significance Single submitter
- EPX p.Arg419Trp Uncertain significance Single submitter
- EPX p.Arg445Lys Uncertain significance Single submitter
- EPX p.Arg471His Uncertain significance Single submitter
- EPX p.Arg531His Uncertain significance Single submitter
- EPX p.Arg564Trp Uncertain significance Single submitter
- EPX p.Arg575Gly Uncertain significance Single submitter
- EPX p.Arg584Gln Uncertain significance Single submitter
- EPX p.Arg645Pro Uncertain significance Single submitter
- EPX p.Arg673Pro Uncertain significance Single submitter
- EPX p.Arg696Trp Uncertain significance Single submitter
- EPX p.Asn113Ser Uncertain significance Single submitter
- EPX p.Asn211Lys Uncertain significance Single submitter
- EPX p.Asn300His Uncertain significance Single submitter
- EPX p.Asn344Lys Uncertain significance Single submitter
- EPX p.Asp356Asn Uncertain significance Single submitter
- EPX p.Asp357Glu Uncertain significance Single submitter
- EPX p.Asp459His Uncertain significance Single submitter
- EPX p.Asp610Asn Uncertain significance Single submitter
- EPX p.Gln105Lys Uncertain significance Single submitter
- EPX p.Gln137Glu Uncertain significance Single submitter
- EPX p.Gln205Lys Uncertain significance Single submitter
- EPX p.Gln427Leu Uncertain significance Single submitter
- EPX p.Gln596Glu Uncertain significance Single submitter
- EPX p.Gln60Glu Uncertain significance Single submitter
- EPX p.Glu32Asp Uncertain significance Single submitter
- EPX p.Glu394Gly Uncertain significance Single submitter
- EPX p.Gly161Glu Uncertain significance Single submitter
- EPX p.Gly29Glu Uncertain significance Single submitter
- EPX p.His355Gln Uncertain significance Single submitter
- EPX p.His388Leu Uncertain significance Single submitter
- EPX p.His496Tyr Uncertain significance Single submitter
- EPX p.Ile518Val Uncertain significance Single submitter
- EPX p.Ile58Thr Uncertain significance Single submitter
- EPX p.Ile614Val Uncertain significance Single submitter
- EPX p.Leu439Pro Uncertain significance Single submitter
- EPX p.Leu540Pro Uncertain significance Single submitter
- EPX p.Leu598Ser Uncertain significance Single submitter
- EPX p.Leu633Arg Uncertain significance Single submitter
- EPX p.Met422Ile Uncertain significance Single submitter
- EPX p.Met425Val Uncertain significance Single submitter
- EPX p.Met476Thr Uncertain significance Single submitter
- EPX p.Pro28Ser Uncertain significance Single submitter
- EPX p.Pro493Ser Uncertain significance Single submitter
- EPX p.Ser563Arg Uncertain significance Single submitter
- EPX p.Thr147Ser Uncertain significance Single submitter
- EPX p.Thr248Ala Uncertain significance Single submitter
- EPX p.Thr83Ile Uncertain significance Single submitter
- EPX p.Trp651Cys Uncertain significance Single submitter
- EPX p.Tyr431Asn Uncertain significance Single submitter
- EPX p.Tyr488His Uncertain significance Single submitter
- EPX p.Val251Ile Uncertain significance Single submitter
Predictors split 69
The independent predictors disagree with each other — read with care.
- EPX p.Val35Ile Benign Multiple submitters
- EPX p.Ala311Thr Uncertain significance Single submitter
- EPX p.Ala469Val Uncertain significance Single submitter
- EPX p.Ala50Gly Uncertain significance Single submitter
- EPX p.Ala50Val Uncertain significance Single submitter
- EPX p.Ala620Thr Uncertain significance Single submitter
- EPX p.Arg124Trp Uncertain significance Single submitter
- EPX p.Arg151Trp Uncertain significance Single submitter
- EPX p.Arg340His Uncertain significance Single submitter
- EPX p.Arg364Cys Uncertain significance Single submitter
- EPX p.Arg367His Uncertain significance Single submitter
- EPX p.Arg397Gln Uncertain significance Single submitter
- EPX p.Arg404His Uncertain significance Single submitter
- EPX p.Arg408Gln Uncertain significance Single submitter
- EPX p.Arg408Trp Uncertain significance Single submitter
- EPX p.Arg443Gln Uncertain significance Single submitter
- EPX p.Arg443Leu Uncertain significance Single submitter
- EPX p.Arg461Gln Uncertain significance Single submitter
- EPX p.Arg483Cys Uncertain significance Single submitter
- EPX p.Arg489Trp Uncertain significance Single submitter
- EPX p.Arg508Gln Uncertain significance Single submitter
- EPX p.Arg520Gln Uncertain significance Single submitter
- EPX p.Arg531Cys Uncertain significance Single submitter
- EPX p.Arg543Gly Uncertain significance Single submitter
- EPX p.Arg546Trp Likely benign Single submitter
- EPX p.Arg576His Uncertain significance Single submitter
- EPX p.Arg584Gly Uncertain significance Single submitter
- EPX p.Arg584Trp Uncertain significance Single submitter
- EPX p.Arg61Gln Uncertain significance Single submitter
- EPX p.Arg61Trp Uncertain significance Single submitter
- EPX p.Arg63Cys Uncertain significance Single submitter
- EPX p.Arg63His Uncertain significance Single submitter
- EPX p.Arg645Gln Uncertain significance Single submitter
- EPX p.Arg655Gln Uncertain significance Single submitter
- EPX p.Arg663His Uncertain significance Single submitter
- EPX p.Arg703Leu Uncertain significance Single submitter
- EPX p.Asn113His Uncertain significance Single submitter
- EPX p.Asn338Ser Uncertain significance Single submitter
- EPX p.Asn52Ser Uncertain significance Single submitter
- EPX p.Asn692Tyr Uncertain significance Single submitter
- EPX p.Gln128His Uncertain significance Single submitter
- EPX p.Glu401Lys Uncertain significance Single submitter
- EPX p.Gly567Ser Uncertain significance Single submitter
- EPX p.Gly656Asp Uncertain significance Single submitter
- EPX p.Gly656Ser Uncertain significance Single submitter
- EPX p.Gly65Ser Uncertain significance Single submitter
- EPX p.Gly697Ala Uncertain significance Single submitter
- EPX p.Ile612Thr Uncertain significance Single submitter
- EPX p.Leu100Phe Uncertain significance Single submitter
- EPX p.Leu349Pro Uncertain significance Single submitter
- EPX p.Leu529Pro Uncertain significance Single submitter
- EPX p.Leu97Ser Uncertain significance Single submitter
- EPX p.Lys44Asn Uncertain significance Single submitter
- EPX p.Met223Thr Uncertain significance Single submitter
- EPX p.Phe112Leu Uncertain significance Single submitter
- EPX p.Pro242Leu Uncertain significance Single submitter
- EPX p.Pro273Ser Uncertain significance Single submitter
- EPX p.Pro283Leu Uncertain significance Single submitter
- EPX p.Pro498Leu Uncertain significance Single submitter
- EPX p.Pro498Thr Uncertain significance Single submitter
- EPX p.Pro625Leu Uncertain significance Single submitter
- EPX p.Pro625Ser Uncertain significance Single submitter
- EPX p.Ser287Leu Uncertain significance Single submitter
- EPX p.Ser34Leu Uncertain significance Single submitter
- EPX p.Ser495Leu Uncertain significance Single submitter
- EPX p.Val458Met Uncertain significance Single submitter
- EPX p.Val510Ala Uncertain significance Single submitter
- EPX p.Val684Leu Uncertain significance Single submitter
- EPX p.Val699Met Uncertain significance Single submitter
All EPX variants
Benign 8
- c.464+8C>T Multiple submitters
- p.Asn572Tyr Multiple submitters
- p.Cys257Ter Multiple submitters
- p.Pro292Leu Multiple submitters
- p.Val35Ile Multiple submitters ⚠
- p.Cys39Tyr Single submitter
- p.Leu305= Single submitter
- p.Leu624= Single submitter
Likely benign 9
- c.170+5A>G Multiple submitters
- c.801+1G>A Multiple submitters eosinophil peroxidase deficiency
- p.Phe308Leu Multiple submitters
- p.Ala304Thr Single submitter
- p.Arg546Gln Single submitter
- p.Arg546Trp Single submitter ⚠
- p.Asn211Ser Single submitter
- p.Gly110Arg Single submitter
- p.Pro5Leu Single submitter
Uncertain significance 137
- p.Ala168Val Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala311Thr Single submitter ⚠
- p.Ala469Val Single submitter ⚠
- p.Ala50Gly Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala618Asp Single submitter ⚠
- p.Ala620Thr Single submitter ⚠
- p.Ala665Val Single submitter ⚠
- p.Ala691Val Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg124Trp Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg157Ser Single submitter ⚠
- p.Arg191Ser Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg218Gly Single submitter ⚠
- p.Arg218His Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg297Gly Single submitter ⚠
- p.Arg324Gln Single submitter ⚠
- p.Arg340His Single submitter ⚠
- p.Arg364Cys Single submitter ⚠
- p.Arg367His Single submitter ⚠
- p.Arg397Gln Single submitter ⚠
- p.Arg404His Single submitter ⚠
- p.Arg408Gln Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg419Trp Single submitter ⚠
- p.Arg443Gln Single submitter ⚠
- p.Arg443Leu Single submitter ⚠
- p.Arg445Lys Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Arg471His Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg489Trp Single submitter ⚠
- p.Arg508Gln Single submitter ⚠
- p.Arg520Gln Single submitter ⚠
- p.Arg531Cys Single submitter ⚠
- p.Arg531His Single submitter ⚠
- p.Arg543Gly Single submitter ⚠
- p.Arg564Trp Single submitter ⚠
- p.Arg575Gly Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg584Gln Single submitter ⚠
- p.Arg584Gly Single submitter ⚠
- p.Arg584Trp Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Arg61Trp Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg645Gln Single submitter ⚠
- p.Arg645Pro Single submitter ⚠
- p.Arg655Gln Single submitter ⚠
- p.Arg663His Single submitter ⚠
- p.Arg673Pro Single submitter ⚠
- p.Arg696Trp Single submitter ⚠
- p.Arg703Leu Single submitter ⚠
- p.Asn113His Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn211Lys Single submitter ⚠
- p.Asn300His Single submitter ⚠
- p.Asn338Ser Single submitter ⚠
- p.Asn344Lys Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asn692Tyr Single submitter ⚠
- p.Asp356Asn Single submitter ⚠
- p.Asp357Glu Single submitter ⚠
- p.Asp459His Single submitter ⚠
- p.Asp610Asn Single submitter ⚠
- p.Gln105Lys Single submitter ⚠
- p.Gln128His Single submitter ⚠
- p.Gln137Glu Single submitter ⚠
- p.Gln205Lys Single submitter ⚠
- p.Gln427Leu Single submitter ⚠
- p.Gln596Glu Single submitter ⚠
- p.Gln60Glu Single submitter ⚠
- p.Glu32Asp Single submitter ⚠
- p.Glu394Gly Single submitter ⚠
- p.Glu401Lys Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly29Glu Single submitter ⚠
- p.Gly567Ser Single submitter ⚠
- p.Gly656Asp Single submitter ⚠
- p.Gly656Ser Single submitter ⚠
- p.Gly65Ser Single submitter ⚠
- p.Gly697Ala Single submitter ⚠
- p.His355Gln Single submitter ⚠
- p.His388Leu Single submitter ⚠
- p.His496Tyr Single submitter ⚠
- p.Ile518Val Single submitter ⚠
- p.Ile58Thr Single submitter ⚠
- p.Ile612Thr Single submitter ⚠
- p.Ile614Val Single submitter ⚠
- p.Leu100Phe Single submitter ⚠
- p.Leu349Pro Single submitter ⚠
- p.Leu439Pro Single submitter ⚠
- p.Leu529Pro Single submitter ⚠
- p.Leu540Pro Single submitter ⚠
- p.Leu598Ser Single submitter ⚠
- p.Leu633Arg Single submitter ⚠
- p.Leu97Ser Single submitter ⚠
- p.Lys44Asn Single submitter ⚠
- p.Met223Thr Single submitter ⚠
- p.Met422Ile Single submitter ⚠
- p.Met425Val Single submitter ⚠
- p.Met476Thr Single submitter ⚠
- p.Phe112Leu Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro273Ser Single submitter ⚠
- p.Pro283Leu Single submitter ⚠
- p.Pro28Ser Single submitter ⚠
- p.Pro493Ser Single submitter ⚠
- p.Pro498Leu Single submitter ⚠
- p.Pro498Thr Single submitter ⚠
- p.Pro625Leu Single submitter ⚠
- p.Pro625Ser Single submitter ⚠
- p.Ser287Leu Single submitter ⚠
- p.Ser34Leu Single submitter ⚠
- p.Ser495Leu Single submitter ⚠
- p.Ser563Arg Single submitter ⚠
- p.Thr147Ser Single submitter ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr83Ile Single submitter ⚠
- p.Trp53Ter Single submitter eosinophil peroxidase deficiency
- p.Trp651Cys Single submitter ⚠
- p.Tyr431Asn Single submitter ⚠
- p.Tyr488His Single submitter ⚠
- p.Val251Ile Single submitter ⚠
- p.Val458Met Single submitter ⚠
- p.Val510Ala Single submitter ⚠
- p.Val684Leu Single submitter ⚠
- p.Val699Met Single submitter ⚠