EMC2 — 24 ClinVar variants
All ClinVar germline EMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
24 Uncertain significance
Full EMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMC2 p.Arg273Gln Uncertain significance Single submitter
- EMC2 p.Asn167Ser Uncertain significance Single submitter
- EMC2 p.Asp111Gly Uncertain significance Single submitter
- EMC2 p.Gln134Glu Uncertain significance Single submitter
- EMC2 p.Gln293His Uncertain significance Single submitter
- EMC2 p.Glu286Lys Uncertain significance Single submitter
- EMC2 p.His87Asn Uncertain significance Single submitter
- EMC2 p.Ile107Leu Uncertain significance Single submitter
- EMC2 p.Ile130Val Uncertain significance Single submitter
- EMC2 p.Leu73Ser Uncertain significance Single submitter
- EMC2 p.Met234Val Uncertain significance Single submitter
- EMC2 p.Pro186Ser Uncertain significance Single submitter
- EMC2 p.Thr119Ala Uncertain significance Single submitter
- EMC2 p.Thr121Pro Uncertain significance Single submitter
- EMC2 p.Thr93Ile Uncertain significance Single submitter
- EMC2 p.Tyr110His Uncertain significance Single submitter
- EMC2 p.Tyr44His Uncertain significance Single submitter
- EMC2 p.Tyr66Cys Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EMC2 p.Ala271Thr Uncertain significance Single submitter
- EMC2 p.Asp287His Uncertain significance Single submitter
- EMC2 p.Ile61Thr Uncertain significance Single submitter
- EMC2 p.Leu208Val Uncertain significance Single submitter
- EMC2 p.Pro118Leu Uncertain significance Single submitter
- EMC2 p.Thr201Ser Uncertain significance Single submitter
All EMC2 variants
Uncertain significance 24
- p.Ala271Thr Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asp111Gly Single submitter ⚠
- p.Asp287His Single submitter ⚠
- p.Gln134Glu Single submitter ⚠
- p.Gln293His Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.His87Asn Single submitter ⚠
- p.Ile107Leu Single submitter ⚠
- p.Ile130Val Single submitter ⚠
- p.Ile61Thr Single submitter ⚠
- p.Leu208Val Single submitter ⚠
- p.Leu73Ser Single submitter ⚠
- p.Met234Val Single submitter ⚠
- p.Pro118Leu Single submitter ⚠
- p.Pro186Ser Single submitter ⚠
- p.Thr119Ala Single submitter ⚠
- p.Thr121Pro Single submitter ⚠
- p.Thr201Ser Single submitter ⚠
- p.Thr93Ile Single submitter ⚠
- p.Tyr110His Single submitter ⚠
- p.Tyr44His Single submitter ⚠
- p.Tyr66Cys Single submitter ⚠