EMB — 39 ClinVar variants
All ClinVar germline EMB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
4 Likely benign · 35 Uncertain significance
Full EMB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EMB p.Ala10Ser Uncertain significance Single submitter
- EMB p.Ala118Thr Uncertain significance Single submitter
- EMB p.Ala12Ser Uncertain significance Single submitter
- EMB p.Arg11Ser Uncertain significance Single submitter
- EMB p.Asn113Ser Uncertain significance Single submitter
- EMB p.Asn83Asp Uncertain significance Single submitter
- EMB p.Cys180Arg Uncertain significance Single submitter
- EMB p.Gln109Arg Uncertain significance Single submitter
- EMB p.Glu233Asp Uncertain significance Single submitter
- EMB p.Gly107Ala Uncertain significance Single submitter
- EMB p.Ile132Val Uncertain significance Single submitter
- EMB p.Ile301Met Uncertain significance Single submitter
- EMB p.Ile62Val Uncertain significance Single submitter
- EMB p.Leu227Pro Uncertain significance Single submitter
- EMB p.Lys223Thr Uncertain significance Single submitter
- EMB p.Lys289Asn Uncertain significance Single submitter
- EMB p.Met70Ile Uncertain significance Single submitter
- EMB p.Phe241Leu Uncertain significance Single submitter
- EMB p.Ser30Cys Uncertain significance Single submitter
- EMB p.Thr179Lys Uncertain significance Single submitter
- EMB p.Tyr216His Uncertain significance Single submitter
- EMB p.Val253Met Uncertain significance Single submitter
- EMB p.Val254Glu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- EMB p.Arg11Lys Uncertain significance Single submitter
- EMB p.Asn189His Uncertain significance Single submitter
- EMB p.Asn75Asp Uncertain significance Single submitter
- EMB p.Asn75Lys Uncertain significance Single submitter
- EMB p.Ile76Val Uncertain significance Single submitter
- EMB p.Leu24Pro Uncertain significance Single submitter
- EMB p.Lys321Asn Uncertain significance Single submitter
- EMB p.Met137Ile Uncertain significance Single submitter
- EMB p.Thr176Ser Uncertain significance Single submitter
- EMB p.Tyr257Cys Uncertain significance Single submitter
- EMB p.Val72Ala Uncertain significance Single submitter
- EMB p.Val84Leu Uncertain significance Single submitter
All EMB variants
Likely benign 4
- p.Arg145Gln Single submitter
- p.Asp106Gly Single submitter
- p.Leu19= Single submitter
- p.Ser121Asn Single submitter
Uncertain significance 35
- p.Ala10Ser Single submitter ⚠
- p.Ala118Thr Single submitter ⚠
- p.Ala12Ser Single submitter ⚠
- p.Arg11Lys Single submitter ⚠
- p.Arg11Ser Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn189His Single submitter ⚠
- p.Asn75Asp Single submitter ⚠
- p.Asn75Lys Single submitter ⚠
- p.Asn83Asp Single submitter ⚠
- p.Cys180Arg Single submitter ⚠
- p.Gln109Arg Single submitter ⚠
- p.Glu233Asp Single submitter ⚠
- p.Gly107Ala Single submitter ⚠
- p.Ile132Val Single submitter ⚠
- p.Ile301Met Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Leu227Pro Single submitter ⚠
- p.Leu24Pro Single submitter ⚠
- p.Lys223Thr Single submitter ⚠
- p.Lys289Asn Single submitter ⚠
- p.Lys321Asn Single submitter ⚠
- p.Met137Ile Single submitter ⚠
- p.Met70Ile Single submitter ⚠
- p.Phe241Leu Single submitter ⚠
- p.Ser30Cys Single submitter ⚠
- p.Thr176Ser Single submitter ⚠
- p.Thr179Lys Single submitter ⚠
- p.Tyr216His Single submitter ⚠
- p.Tyr257Cys Single submitter ⚠
- p.Val253Met Single submitter ⚠
- p.Val254Glu Single submitter ⚠
- p.Val72Ala Single submitter ⚠
- p.Val84Leu Single submitter ⚠