ME2 — 78 ClinVar variants
All ClinVar germline ME2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
1 Likely pathogenic · 3 Benign · 4 Likely benign · 70 Uncertain significance
Full ME2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ME2 p.Ala191Val Uncertain significance Single submitter
- ME2 p.Ala312Val Uncertain significance Single submitter
- ME2 p.Ala315Asp Uncertain significance Single submitter
- ME2 p.Ala39Glu Uncertain significance Single submitter
- ME2 p.Ala517Thr Uncertain significance Single submitter
- ME2 p.Ala527Val Uncertain significance Single submitter
- ME2 p.Ala550Thr Uncertain significance Single submitter
- ME2 p.Arg227His Uncertain significance Single submitter
- ME2 p.Arg270Gln Uncertain significance Single submitter
- ME2 p.Arg354Gln Uncertain significance Single submitter
- ME2 p.Arg397His Uncertain significance Single submitter
- ME2 p.Arg484Gln Uncertain significance Single submitter
- ME2 p.Asn261Asp Uncertain significance Single submitter
- ME2 p.Asn411Ser Uncertain significance Single submitter
- ME2 p.Asp148Glu Uncertain significance Single submitter
- ME2 p.Asp256Asn Uncertain significance Single submitter
- ME2 p.Asp359Asn Uncertain significance Single submitter
- ME2 p.Gln229His Uncertain significance Single submitter
- ME2 p.Gln362Arg Uncertain significance Single submitter
- ME2 p.Gln509Glu Uncertain significance Single submitter
- ME2 p.Gln520Arg Uncertain significance Single submitter
- ME2 p.His18Gln Uncertain significance Single submitter
- ME2 p.Ile104Thr Uncertain significance Single submitter
- ME2 p.Ile137Val Uncertain significance Single submitter
- ME2 p.Ile203Phe Uncertain significance Single submitter
- ME2 p.Ile203Thr Uncertain significance Single submitter
- ME2 p.Ile210Thr Uncertain significance Single submitter
- ME2 p.Ile242Val Uncertain significance Single submitter
- ME2 p.Ile252Val Uncertain significance Single submitter
- ME2 p.Ile280Thr Uncertain significance Single submitter
- ME2 p.Ile389Leu Uncertain significance Single submitter
- ME2 p.Ile404Val Uncertain significance Single submitter
- ME2 p.Ile582Met Uncertain significance Single submitter
- ME2 p.Ile99Leu Uncertain significance Single submitter
- ME2 p.Leu184Phe Uncertain significance Single submitter
- ME2 p.Leu516Pro Uncertain significance Single submitter
- ME2 p.Lys538Glu Uncertain significance Single submitter
- ME2 p.Met47Val Uncertain significance Single submitter
- ME2 p.Phe377Ser Uncertain significance Single submitter
- ME2 p.Phe96Leu Uncertain significance Single submitter
- ME2 p.Pro514Ser Uncertain significance Single submitter
- ME2 p.Pro546Thr Uncertain significance Single submitter
- ME2 p.Pro56Arg Uncertain significance Single submitter
- ME2 p.Ser136Leu Uncertain significance Single submitter
- ME2 p.Ser489Asn Uncertain significance Single submitter
- ME2 p.Ser500Asn Uncertain significance Single submitter
- ME2 p.Thr503Arg Uncertain significance Single submitter
- ME2 p.Tyr112Cys Uncertain significance Single submitter
- ME2 p.Tyr562His Uncertain significance Single submitter
- ME2 p.Val7Gly Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ME2 p.Ala241Val Uncertain significance Single submitter
- ME2 p.Ala540Val Uncertain significance Single submitter
- ME2 p.Arg227Ser Uncertain significance Single submitter
- ME2 p.Arg248Trp Uncertain significance Single submitter
- ME2 p.Asp456Gly Uncertain significance Single submitter
- ME2 p.Gln223Glu Uncertain significance Single submitter
- ME2 p.Glu304Lys Uncertain significance Single submitter
- ME2 p.Glu431Lys Uncertain significance Single submitter
- ME2 p.Ile519Ser Uncertain significance Single submitter
- ME2 p.Met29Thr Uncertain significance Single submitter
- ME2 p.Met327Val Uncertain significance Single submitter
- ME2 p.Pro301Thr Uncertain significance Single submitter
- ME2 p.Pro515Leu Uncertain significance Single submitter
- ME2 p.Thr228Ile Uncertain significance Single submitter
- ME2 p.Thr429Met Uncertain significance Single submitter
- ME2 p.Val328Leu Uncertain significance Single submitter
All ME2 variants
Likely pathogenic 1
- p.Phe460fs Single submitter
Benign 3
- p.Val468= Multiple submitters
- c.844+8A>C No assertion criteria ME2-related disorder
- p.Gly450Glu No assertion criteria ME2-related disorder
Likely benign 4
- p.Arg194Gln Single submitter
- p.Leu199= Single submitter
- p.Ser372Asn Single submitter
- p.Tyr533= Single submitter
Uncertain significance 70
- p.Ala191Val Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala289Thr Single submitter
- p.Ala312Val Single submitter ⚠
- p.Ala315Asp Single submitter ⚠
- p.Ala39Glu Single submitter ⚠
- p.Ala517Thr Single submitter ⚠
- p.Ala527Val Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Ala550Thr Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg227Ser Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Arg354Gln Single submitter ⚠
- p.Arg397His Single submitter ⚠
- p.Arg440Gly Single submitter
- p.Arg484Gln Single submitter ⚠
- p.Asn209Thr Single submitter
- p.Asn261Asp Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asp148Glu Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp359Asn Single submitter ⚠
- p.Asp456Gly Single submitter ⚠
- p.Gln223Glu Single submitter ⚠
- p.Gln229His Single submitter ⚠
- p.Gln362Arg Single submitter ⚠
- p.Gln509Glu Single submitter ⚠
- p.Gln520Arg Single submitter ⚠
- p.Glu304Lys Single submitter ⚠
- p.Glu431Lys Single submitter ⚠
- p.His18Gln Single submitter ⚠
- p.Ile104Thr Single submitter ⚠
- p.Ile137Val Single submitter ⚠
- p.Ile203Phe Single submitter ⚠
- p.Ile203Thr Single submitter ⚠
- p.Ile210Thr Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile252Val Single submitter ⚠
- p.Ile280Thr Single submitter ⚠
- p.Ile389Leu Single submitter ⚠
- p.Ile404Val Single submitter ⚠
- p.Ile519Ser Single submitter ⚠
- p.Ile582Met Single submitter ⚠
- p.Ile99Leu Single submitter ⚠
- p.Leu184Phe Single submitter ⚠
- p.Leu516Pro Single submitter ⚠
- p.Lys538Glu Single submitter ⚠
- p.Met29Thr Single submitter ⚠
- p.Met327Val Single submitter ⚠
- p.Met47Val Single submitter ⚠
- p.Phe377Ser Single submitter ⚠
- p.Phe96Leu Single submitter ⚠
- p.Pro301Thr Single submitter ⚠
- p.Pro514Ser Single submitter ⚠
- p.Pro515Leu Single submitter ⚠
- p.Pro546Thr Single submitter ⚠
- p.Pro56Arg Single submitter ⚠
- p.Ser136Leu Single submitter ⚠
- p.Ser489Asn Single submitter ⚠
- p.Ser500Asn Single submitter ⚠
- p.Thr228Ile Single submitter ⚠
- p.Thr429Met Single submitter ⚠
- p.Thr503Arg Single submitter ⚠
- p.Tyr112Cys Single submitter ⚠
- p.Tyr562His Single submitter ⚠
- p.Val159Ile Single submitter
- p.Val328Leu Single submitter ⚠
- p.Val7Gly Single submitter ⚠