ENOX2 — 55 ClinVar variants
All ClinVar germline ENOX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
2 Benign · 1 Likely benign · 52 Uncertain significance
Full ENOX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENOX2 c.-38-6023T>G Uncertain significance Single submitter
- ENOX2 p.Arg129His Uncertain significance Single submitter
- ENOX2 p.Arg139His Uncertain significance Single submitter
- ENOX2 p.Arg156His Uncertain significance Single submitter
- ENOX2 p.Arg190His Uncertain significance Single submitter
- ENOX2 p.Arg190Leu Uncertain significance Single submitter
- ENOX2 p.Arg327Trp Uncertain significance Single submitter
- ENOX2 p.Arg393Cys Uncertain significance Single submitter
- ENOX2 p.Arg479Thr Uncertain significance Single submitter
- ENOX2 p.Arg92Gln Uncertain significance Single submitter
- ENOX2 p.Cys481Arg Uncertain significance Single submitter
- ENOX2 p.Gln177Arg Uncertain significance Single submitter
- ENOX2 p.Glu248Gly Uncertain significance Single submitter
- ENOX2 p.Glu454Ala Uncertain significance Single submitter
- ENOX2 p.Glu468Ala Uncertain significance Single submitter
- ENOX2 p.Glu492Gln Uncertain significance Single submitter
- ENOX2 p.Gly105Ser Uncertain significance Single submitter
- ENOX2 p.Gly24Ala Uncertain significance Single submitter
- ENOX2 p.Gly411Ser Uncertain significance Single submitter
- ENOX2 p.His198Arg Uncertain significance Single submitter
- ENOX2 p.Met1Val Uncertain significance Single submitter
- ENOX2 p.Met50Val Uncertain significance Single submitter
- ENOX2 p.Phe80Val Uncertain significance Single submitter
- ENOX2 p.Pro22Leu Uncertain significance Single submitter
- ENOX2 p.Pro46Ser Uncertain significance Single submitter
- ENOX2 p.Thr42Ser Uncertain significance Single submitter
- ENOX2 p.Thr514Ile Uncertain significance Single submitter
- ENOX2 p.Thr78Ala Uncertain significance Single submitter
- ENOX2 p.Trp319Arg Uncertain significance Single submitter
- ENOX2 p.Tyr446His Uncertain significance Single submitter
- ENOX2 p.Tyr489His Uncertain significance Single submitter
- ENOX2 p.Val57Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- ENOX2 p.Arg208His Uncertain significance Single submitter
- ENOX2 p.Arg273Cys Uncertain significance Single submitter
- ENOX2 p.Arg273His Uncertain significance Single submitter
- ENOX2 p.Arg341His Uncertain significance Single submitter
- ENOX2 p.Asp346Val Uncertain significance Single submitter
- ENOX2 p.Cys122Phe Uncertain significance Single submitter
- ENOX2 p.Glu282Gln Uncertain significance Single submitter
- ENOX2 p.Glu576Lys Uncertain significance Single submitter
- ENOX2 p.His344Arg Uncertain significance Single submitter
- ENOX2 p.Ile343Phe Uncertain significance Single submitter
- ENOX2 p.Ile500Met Uncertain significance Single submitter
- ENOX2 p.Leu207Phe Uncertain significance Single submitter
- ENOX2 p.Leu296Val Uncertain significance Single submitter
- ENOX2 p.Leu507Arg Uncertain significance Single submitter
- ENOX2 p.Leu580Pro Uncertain significance Single submitter
- ENOX2 p.Pro210Leu Uncertain significance Single submitter
- ENOX2 p.Pro214Ala Uncertain significance Single submitter
- ENOX2 p.Ser478Cys Uncertain significance Single submitter
- ENOX2 p.Val173Ile Uncertain significance Single submitter
- ENOX2 p.Val509Ala Uncertain significance Single submitter
All ENOX2 variants
Benign 2
- c.1129+6G>A Multiple submitters
- p.Pro490= Single submitter
Likely benign 1
- p.Leu396= Single submitter
Uncertain significance 52
- c.-38-6023T>G Single submitter ⚠
- p.Arg129His Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg190His Single submitter ⚠
- p.Arg190Leu Single submitter ⚠
- p.Arg208His Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg327Trp Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg393Cys Single submitter ⚠
- p.Arg479Thr Single submitter ⚠
- p.Arg92Gln Single submitter ⚠
- p.Asp346Val Single submitter ⚠
- p.Cys122Phe Single submitter ⚠
- p.Cys481Arg Single submitter ⚠
- p.Gln177Arg Single submitter ⚠
- p.Glu248Gly Single submitter ⚠
- p.Glu282Gln Single submitter ⚠
- p.Glu454Ala Single submitter ⚠
- p.Glu468Ala Single submitter ⚠
- p.Glu492Gln Single submitter ⚠
- p.Glu576Lys Single submitter ⚠
- p.Gly105Ser Single submitter ⚠
- p.Gly24Ala Single submitter ⚠
- p.Gly411Ser Single submitter ⚠
- p.His198Arg Single submitter ⚠
- p.His344Arg Single submitter ⚠
- p.Ile343Phe Single submitter ⚠
- p.Ile500Met Single submitter ⚠
- p.Leu207Phe Single submitter ⚠
- p.Leu296Val Single submitter ⚠
- p.Leu507Arg Single submitter ⚠
- p.Leu580Pro Single submitter ⚠
- p.Met1Val Single submitter ⚠
- p.Met50Val Single submitter ⚠
- p.Phe80Val Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro214Ala Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Ser478Cys Single submitter ⚠
- p.Thr42Ser Single submitter ⚠
- p.Thr514Ile Single submitter ⚠
- p.Thr78Ala Single submitter ⚠
- p.Trp319Arg Single submitter ⚠
- p.Tyr446His Single submitter ⚠
- p.Tyr489His Single submitter ⚠
- p.Val173Ile Single submitter ⚠
- p.Val509Ala Single submitter ⚠
- p.Val57Ile Single submitter ⚠