NFE2 — 41 ClinVar variants
All ClinVar germline NFE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Likely benign · 39 Uncertain significance
Full NFE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NFE2 p.Ala165Gly Uncertain significance Single submitter
- NFE2 p.Ala218Val Uncertain significance Single submitter
- NFE2 p.Arg168Gln Uncertain significance Single submitter
- NFE2 p.Arg169His Uncertain significance Single submitter
- NFE2 p.Arg296Gln Uncertain significance Single submitter
- NFE2 p.Asn282Thr Uncertain significance Single submitter
- NFE2 p.Asp248His Uncertain significance Single submitter
- NFE2 p.Asp332Val Uncertain significance Single submitter
- NFE2 p.Glu320Ala Uncertain significance Single submitter
- NFE2 p.Glu45Gly Uncertain significance Single submitter
- NFE2 p.Gly220Arg Uncertain significance Single submitter
- NFE2 p.Gly366Arg Uncertain significance Single submitter
- NFE2 p.Ile14Val Uncertain significance Single submitter
- NFE2 p.Ile70Thr Uncertain significance Single submitter
- NFE2 p.Leu26Pro Uncertain significance Single submitter
- NFE2 p.Lys137Thr Uncertain significance Single submitter
- NFE2 p.Met102Ile Uncertain significance Single submitter
- NFE2 p.Met185Ile Uncertain significance Single submitter
- NFE2 p.Met185Val Uncertain significance Single submitter
- NFE2 p.Pro177Ser Uncertain significance Single submitter
- NFE2 p.Pro197Thr Uncertain significance Single submitter
- NFE2 p.Pro207Ser Uncertain significance Single submitter
- NFE2 p.Pro211Ser Uncertain significance Single submitter
- NFE2 p.Pro50His Uncertain significance Single submitter
- NFE2 p.Pro5Thr Uncertain significance Single submitter
- NFE2 p.Pro61Ser Uncertain significance Single submitter
- NFE2 p.Pro81Thr Uncertain significance Single submitter
- NFE2 p.Pro95Ser Uncertain significance Single submitter
- NFE2 p.Ser117Asn Uncertain significance Single submitter
- NFE2 p.Ser183Leu Uncertain significance Single submitter
- NFE2 p.Ser344Asn Uncertain significance Single submitter
- NFE2 p.Thr359Asn Uncertain significance Single submitter
- NFE2 p.Thr372Ala Uncertain significance Single submitter
- NFE2 p.Thr89Ile Uncertain significance Single submitter
- NFE2 p.Tyr99Cys Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All NFE2 variants
Likely benign 2
- p.Arg365Gly Single submitter
- p.Ser144= Single submitter
Uncertain significance 39
- p.Ala165Gly Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg296Gln Single submitter ⚠
- p.Asn282Thr Single submitter ⚠
- p.Asp248His Single submitter ⚠
- p.Asp332Val Single submitter ⚠
- p.Asp357Asn Single submitter ⚠
- p.Glu320Ala Single submitter ⚠
- p.Glu45Gly Single submitter ⚠
- p.Gly220Arg Single submitter ⚠
- p.Gly366Arg Single submitter ⚠
- p.Ile14Val Single submitter ⚠
- p.Ile70Thr Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Leu352Val Single submitter
- p.Lys137Thr Single submitter ⚠
- p.Met102Ile Single submitter ⚠
- p.Met185Ile Single submitter ⚠
- p.Met185Val Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro197Thr Single submitter ⚠
- p.Pro207Ser Single submitter ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro50His Single submitter ⚠
- p.Pro5Thr Single submitter ⚠
- p.Pro61Ser Single submitter ⚠
- p.Pro81Thr Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser117Asn Single submitter ⚠
- p.Ser183Leu Single submitter ⚠
- p.Ser344Asn Single submitter ⚠
- p.Ser346Pro Single submitter
- p.Thr359Asn Single submitter ⚠
- p.Thr372Ala Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Tyr99Cys Single submitter ⚠
- p.Val292Gly Single submitter ⚠