EBI3 — 46 ClinVar variants
All ClinVar germline EBI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Benign · 5 Likely benign · 39 Uncertain significance
Full EBI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBI3 p.Ala13Thr Uncertain significance Single submitter
- EBI3 p.Ala205Ser Uncertain significance Single submitter
- EBI3 p.Ala27Val Uncertain significance Single submitter
- EBI3 p.Arg136Cys Uncertain significance Single submitter
- EBI3 p.Arg136His Uncertain significance Single submitter
- EBI3 p.Arg143His Uncertain significance Single submitter
- EBI3 p.Arg168His Uncertain significance Single submitter
- EBI3 p.Arg32Gln Uncertain significance Single submitter
- EBI3 p.Arg73Trp Uncertain significance Single submitter
- EBI3 p.Asn55Asp Uncertain significance Single submitter
- EBI3 p.Asp130Asn Uncertain significance Single submitter
- EBI3 p.Asp130His Uncertain significance Single submitter
- EBI3 p.Cys15Tyr Uncertain significance Single submitter
- EBI3 p.Cys79Arg Uncertain significance Single submitter
- EBI3 p.Gln148Glu Uncertain significance Single submitter
- EBI3 p.Ile183Met Uncertain significance Single submitter
- EBI3 p.Ile183Thr Uncertain significance Single submitter
- EBI3 p.Leu140Val Uncertain significance Single submitter
- EBI3 p.Leu80Pro Uncertain significance Single submitter
- EBI3 p.Pro129Ser Uncertain significance Single submitter
- EBI3 p.Ser218Asn Uncertain significance Single submitter
- EBI3 p.Ser61Ala Uncertain significance Single submitter
- EBI3 p.Thr222Ser Uncertain significance Single submitter
- EBI3 p.Thr224Ile Uncertain significance Single submitter
- EBI3 p.Trp149Arg Uncertain significance Single submitter
- EBI3 p.Trp166Cys Uncertain significance Single submitter
- EBI3 p.Trp48Arg Uncertain significance Single submitter
- EBI3 p.Trp77Cys Uncertain significance Single submitter
- EBI3 p.Val135Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- EBI3 p.Arg168Cys Uncertain significance Single submitter
- EBI3 p.Gly69Arg Uncertain significance Single submitter
- EBI3 p.Gly69Cys Uncertain significance Single submitter
- EBI3 p.Pro51Leu Uncertain significance Single submitter
- EBI3 p.Ser187Phe Uncertain significance Single submitter
- EBI3 p.Thr186Met Uncertain significance Single submitter
- EBI3 p.Val60Met Uncertain significance Single submitter
All EBI3 variants
Benign 2
- c.200+3C>T Multiple submitters
- p.Leu137= Single submitter
Likely benign 5
- p.Arg73Gln Single submitter
- p.Leu68Phe Single submitter
- p.Ser14Gly Single submitter
- p.Ser86Ala Single submitter
- p.Thr85Ala Single submitter
Uncertain significance 39
- p.Ala13Thr Single submitter ⚠
- p.Ala205Ser Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg168Cys Single submitter ⚠
- p.Arg168His Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg39Trp Single submitter
- p.Arg73Trp Single submitter ⚠
- p.Asn55Asp Single submitter ⚠
- p.Asp130Asn Single submitter ⚠
- p.Asp130His Single submitter ⚠
- p.Cys15Tyr Single submitter ⚠
- p.Cys79Arg Single submitter ⚠
- p.Gln148Glu Single submitter ⚠
- p.Gly69Arg Single submitter ⚠
- p.Gly69Cys Single submitter ⚠
- p.Ile183Met Single submitter ⚠
- p.Ile183Thr Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu80Pro Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Ser187Phe Single submitter ⚠
- p.Ser218Asn Single submitter ⚠
- p.Ser61Ala Single submitter ⚠
- p.Thr186Met Single submitter ⚠
- p.Thr209Arg Single submitter
- p.Thr222Ser Single submitter ⚠
- p.Thr224Ile Single submitter ⚠
- p.Trp149Arg Single submitter ⚠
- p.Trp166Cys Single submitter ⚠
- p.Trp48Arg Single submitter ⚠
- p.Trp77Cys Single submitter ⚠
- p.Val135Leu Single submitter ⚠
- p.Val180Gly Single submitter
- p.Val60Met Single submitter ⚠