EFR3B — 71 ClinVar variants
All ClinVar germline EFR3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
71 Uncertain significance
Full EFR3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFR3B p.Ala358Val Uncertain significance Single submitter
- EFR3B p.Ala413Thr Uncertain significance Single submitter
- EFR3B p.Ala545Val Uncertain significance Single submitter
- EFR3B p.Ala55Thr Uncertain significance Single submitter
- EFR3B p.Ala735Val Uncertain significance Single submitter
- EFR3B p.Ala794Val Uncertain significance Single submitter
- EFR3B p.Arg12His Uncertain significance Single submitter
- EFR3B p.Arg407Gln Uncertain significance Single submitter
- EFR3B p.Arg407Pro Uncertain significance Single submitter
- EFR3B p.Arg488Cys Uncertain significance Single submitter
- EFR3B p.Arg488His Uncertain significance Single submitter
- EFR3B p.Arg568Cys Uncertain significance Single submitter
- EFR3B p.Arg623Lys Uncertain significance Single submitter
- EFR3B p.Arg63Cys Uncertain significance Single submitter
- EFR3B p.Arg687Cys Uncertain significance Single submitter
- EFR3B p.Arg687His Uncertain significance Single submitter
- EFR3B p.Arg715Gln Uncertain significance Single submitter
- EFR3B p.Arg744Gln Uncertain significance Single submitter
- EFR3B p.Arg766Gln Uncertain significance Single submitter
- EFR3B p.Asn261Tyr Uncertain significance Single submitter
- EFR3B p.Asn775Ser Uncertain significance Single submitter
- EFR3B p.Asp575Glu Uncertain significance Single submitter
- EFR3B p.Glu230Lys Uncertain significance Single submitter
- EFR3B p.Glu28Lys Uncertain significance Single submitter
- EFR3B p.Glu59Asp Uncertain significance Single submitter
- EFR3B p.Glu618Lys Uncertain significance Single submitter
- EFR3B p.Glu662Asp Uncertain significance Single submitter
- EFR3B p.Glu713Gly Uncertain significance Single submitter
- EFR3B p.Gly353Trp Uncertain significance Single submitter
- EFR3B p.Gly420Arg Uncertain significance Single submitter
- EFR3B p.Gly596Val Uncertain significance Single submitter
- EFR3B p.His369Gln Uncertain significance Single submitter
- EFR3B p.His411Tyr Uncertain significance Single submitter
- EFR3B p.His489Gln Uncertain significance Single submitter
- EFR3B p.His762Tyr Uncertain significance Single submitter
- EFR3B p.Ile248Val Uncertain significance Single submitter
- EFR3B p.Ile257Leu Uncertain significance Single submitter
- EFR3B p.Ile257Val Uncertain significance Single submitter
- EFR3B p.Ile291Leu Uncertain significance Single submitter
- EFR3B p.Ile429Met Uncertain significance Single submitter
- EFR3B p.Ile804Phe Uncertain significance Single submitter
- EFR3B p.Lys364Glu Uncertain significance Single submitter
- EFR3B p.Lys712Thr Uncertain significance Single submitter
- EFR3B p.Met373Arg Uncertain significance Single submitter
- EFR3B p.Met518Thr Uncertain significance Single submitter
- EFR3B p.Pro799Arg Uncertain significance Single submitter
- EFR3B p.Ser501Ala Uncertain significance Single submitter
- EFR3B p.Ser671Leu Uncertain significance Single submitter
- EFR3B p.Thr161Asn Uncertain significance Single submitter
- EFR3B p.Thr515Ala Uncertain significance Single submitter
- EFR3B p.Tyr42Cys Uncertain significance Single submitter
- EFR3B p.Tyr526Cys Uncertain significance Single submitter
- EFR3B p.Val269Ala Uncertain significance Single submitter
- EFR3B p.Val516Ile Uncertain significance Single submitter
- EFR3B p.Val570Ala Uncertain significance Single submitter
- EFR3B p.Val570Leu Uncertain significance Single submitter
- EFR3B p.Val731Ala Uncertain significance Single submitter
- EFR3B p.Val731Gly Uncertain significance Single submitter
- EFR3B p.Val734Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EFR3B p.Ala572Val Uncertain significance Single submitter
- EFR3B p.Arg743Trp Uncertain significance Single submitter
- EFR3B p.Arg783Trp Uncertain significance Single submitter
- EFR3B p.Glu129Lys Uncertain significance Single submitter
- EFR3B p.Glu48Asp Uncertain significance Single submitter
- EFR3B p.Ile482Thr Uncertain significance Single submitter
- EFR3B p.Ile698Thr Uncertain significance Single submitter
- EFR3B p.Ser152Leu Uncertain significance Single submitter
- EFR3B p.Val562Met Uncertain significance Single submitter
All EFR3B variants
Uncertain significance 71
- p.Ala358Val Single submitter ⚠
- p.Ala413Thr Single submitter ⚠
- p.Ala545Val Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Ala572Val Single submitter ⚠
- p.Ala735Val Single submitter ⚠
- p.Ala794Val Single submitter ⚠
- p.Arg12His Single submitter ⚠
- p.Arg407Gln Single submitter ⚠
- p.Arg407Pro Single submitter ⚠
- p.Arg488Cys Single submitter ⚠
- p.Arg488His Single submitter ⚠
- p.Arg568Cys Single submitter ⚠
- p.Arg623Lys Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Arg687Cys Single submitter ⚠
- p.Arg687His Single submitter ⚠
- p.Arg715Gln Single submitter ⚠
- p.Arg743Trp Single submitter ⚠
- p.Arg744Gln Single submitter ⚠
- p.Arg766Gln Single submitter ⚠
- p.Arg783Trp Single submitter ⚠
- p.Asn261Tyr Single submitter ⚠
- p.Asn775Ser Single submitter ⚠
- p.Asp156His Single submitter
- p.Asp575Glu Single submitter ⚠
- p.Asp813Asn Single submitter
- p.Glu129Lys Single submitter ⚠
- p.Glu230Lys Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Glu48Asp Single submitter ⚠
- p.Glu59Asp Single submitter ⚠
- p.Glu618Lys Single submitter ⚠
- p.Glu662Asp Single submitter ⚠
- p.Glu713Gly Single submitter ⚠
- p.Gly353Trp Single submitter ⚠
- p.Gly420Arg Single submitter ⚠
- p.Gly596Val Single submitter ⚠
- p.His369Gln Single submitter ⚠
- p.His411Tyr Single submitter ⚠
- p.His489Gln Single submitter ⚠
- p.His762Tyr Single submitter ⚠
- p.Ile248Val Single submitter ⚠
- p.Ile257Leu Single submitter ⚠
- p.Ile257Val Single submitter ⚠
- p.Ile291Leu Single submitter ⚠
- p.Ile429Met Single submitter ⚠
- p.Ile482Thr Single submitter ⚠
- p.Ile698Thr Single submitter ⚠
- p.Ile804Phe Single submitter ⚠
- p.Lys364Glu Single submitter ⚠
- p.Lys712Thr Single submitter ⚠
- p.Met373Arg Single submitter ⚠
- p.Met518Thr Single submitter ⚠
- p.Pro799Arg Single submitter ⚠
- p.Ser152Leu Single submitter ⚠
- p.Ser501Ala Single submitter ⚠
- p.Ser671Leu Single submitter ⚠
- p.Thr161Asn Single submitter ⚠
- p.Thr515Ala Single submitter ⚠
- p.Tyr42Cys Single submitter ⚠
- p.Tyr526Cys Single submitter ⚠
- p.Val269Ala Single submitter ⚠
- p.Val313Met Single submitter
- p.Val516Ile Single submitter ⚠
- p.Val562Met Single submitter ⚠
- p.Val570Ala Single submitter ⚠
- p.Val570Leu Single submitter ⚠
- p.Val731Ala Single submitter ⚠
- p.Val731Gly Single submitter ⚠
- p.Val734Ile Single submitter ⚠