EFR3A — 130 ClinVar variants
All ClinVar germline EFR3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
9 Benign · 16 Likely benign · 105 Uncertain significance
Full EFR3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFR3A p.Ile735Val Uncertain significance Multiple submitters
- EFR3A p.Ala11Val Uncertain significance Single submitter
- EFR3A p.Ala771Thr Uncertain significance Single submitter
- EFR3A p.Ala80Ser Uncertain significance Single submitter
- EFR3A p.Arg139His Uncertain significance Single submitter
- EFR3A p.Arg13Cys Uncertain significance Single submitter
- EFR3A p.Arg13His Uncertain significance Single submitter
- EFR3A p.Arg146Gln Uncertain significance Single submitter
- EFR3A p.Arg18Cys Uncertain significance Single submitter
- EFR3A p.Arg18His Uncertain significance Single submitter
- EFR3A p.Arg214Leu Uncertain significance Single submitter
- EFR3A p.Arg311Gln Uncertain significance Single submitter
- EFR3A p.Arg642Lys Uncertain significance Single submitter
- EFR3A p.Arg692Gln Uncertain significance Single submitter
- EFR3A p.Asn373Ser Uncertain significance Single submitter
- EFR3A p.Asn543Ile Uncertain significance Single submitter
- EFR3A p.Asp355Glu Uncertain significance Single submitter
- EFR3A p.Asp36Asn Uncertain significance Single submitter
- EFR3A p.Asp395Val Uncertain significance Single submitter
- EFR3A p.Asp420Gly Uncertain significance Single submitter
- EFR3A p.Asp519Gly Uncertain significance Single submitter
- EFR3A p.Asp717Asn Uncertain significance Single submitter
- EFR3A p.Glu474Lys Uncertain significance Single submitter
- EFR3A p.Glu566Gly Uncertain significance Single submitter
-
EFR3A p.Glu725Gly
Uncertain significance
Single submitter
EFR3A-related disorder
- EFR3A p.Glu744Gly Uncertain significance Single submitter
- EFR3A p.Glu762Lys Uncertain significance Single submitter
- EFR3A p.Gly174Asp Uncertain significance Single submitter
- EFR3A p.Gly358Glu Uncertain significance Single submitter
- EFR3A p.His260Gln Uncertain significance Single submitter
- EFR3A p.His264Arg Uncertain significance Single submitter
- EFR3A p.His593Tyr Uncertain significance Single submitter
-
EFR3A p.Ile215Leu
Uncertain significance
Single submitter
EFR3A-related disorder
- EFR3A p.Ile280Thr Uncertain significance Single submitter
- EFR3A p.Ile314Val Uncertain significance Single submitter
- EFR3A p.Ile401Thr Uncertain significance Single submitter
- EFR3A p.Ile572Thr Uncertain significance Single submitter
- EFR3A p.Ile583Val Uncertain significance Single submitter
- EFR3A p.Ile584Asn Uncertain significance Single submitter
- EFR3A p.Ile640Met Uncertain significance Single submitter
- EFR3A p.Leu101Val Uncertain significance Single submitter
- EFR3A p.Leu456Pro Uncertain significance Single submitter
- EFR3A p.Leu589Met Uncertain significance Single submitter
- EFR3A p.Leu589Phe Uncertain significance Single submitter
- EFR3A p.Leu647Phe Uncertain significance Single submitter
- EFR3A p.Leu693Pro Uncertain significance Single submitter
- EFR3A p.Lys226Arg Uncertain significance Single submitter
- EFR3A p.Lys305Arg Uncertain significance Single submitter
- EFR3A p.Lys376Glu Uncertain significance Single submitter
- EFR3A p.Lys649Glu Uncertain significance Single submitter
- EFR3A p.Met205Thr Uncertain significance Single submitter
- EFR3A p.Phe24Leu Uncertain significance Single submitter
- EFR3A p.Pro113Gln Uncertain significance Single submitter
- EFR3A p.Pro217Leu Uncertain significance Single submitter
- EFR3A p.Pro410Ala Uncertain significance Single submitter
- EFR3A p.Pro463Thr Uncertain significance Single submitter
- EFR3A p.Ser675Thr Uncertain significance Single submitter
- EFR3A p.Ser698Arg Uncertain significance Single submitter
- EFR3A p.Ser721Gly Uncertain significance Single submitter
- EFR3A p.Thr340Ser Uncertain significance Single submitter
- EFR3A p.Thr416Ala Uncertain significance Single submitter
- EFR3A p.Thr454Asn Uncertain significance Single submitter
- EFR3A p.Tyr396Cys Uncertain significance Single submitter
- EFR3A p.Val124Ala Uncertain significance Single submitter
- EFR3A p.Val334Met Uncertain significance Single submitter
- EFR3A p.Val411Leu Uncertain significance Single submitter
- EFR3A p.Val703Ile Uncertain significance Single submitter
Predictors split 39
The independent predictors disagree with each other — read with care.
- EFR3A p.Ala455Val Uncertain significance Single submitter
- EFR3A p.Ala47Thr Uncertain significance Single submitter
- EFR3A p.Ala575Ser Uncertain significance Single submitter
- EFR3A p.Ala779Pro Uncertain significance Single submitter
- EFR3A p.Arg185Trp Uncertain significance Single submitter
- EFR3A p.Arg309Gln Uncertain significance Single submitter
- EFR3A p.Arg309Trp Uncertain significance Single submitter
- EFR3A p.Arg346His Uncertain significance Single submitter
- EFR3A p.Arg692Gly Uncertain significance Single submitter
- EFR3A p.Arg787Cys Uncertain significance Single submitter
- EFR3A p.Asn485Lys Uncertain significance Single submitter
- EFR3A p.Asn526Ser Uncertain significance Single submitter
- EFR3A p.Asn588Ile Uncertain significance Single submitter
- EFR3A p.Asp36His Uncertain significance Single submitter
- EFR3A p.Gln83His Uncertain significance Single submitter
- EFR3A p.Glu163Asp Uncertain significance Single submitter
- EFR3A p.Glu352Lys Uncertain significance Single submitter
- EFR3A p.Glu638Lys Uncertain significance Single submitter
- EFR3A p.Glu690Gly Uncertain significance Single submitter
- EFR3A p.Ile188Val Uncertain significance Single submitter
- EFR3A p.Ile197Phe Uncertain significance Single submitter
- EFR3A p.Leu778Phe Uncertain significance Single submitter
- EFR3A p.Leu778Val Uncertain significance Single submitter
- EFR3A p.Lys17Arg Uncertain significance Single submitter
- EFR3A p.Pro113Ser Uncertain significance Single submitter
- EFR3A p.Pro113Thr Uncertain significance Single submitter
- EFR3A p.Pro503Leu Uncertain significance Single submitter
- EFR3A p.Pro809Ser Uncertain significance Single submitter
- EFR3A p.Ser110Leu Uncertain significance Single submitter
- EFR3A p.Ser222Pro Uncertain significance Single submitter
- EFR3A p.Ser363Arg Uncertain significance Single submitter
- EFR3A p.Ser738Asn Likely benign Single submitter
- EFR3A p.Ser800Tyr Uncertain significance Single submitter
- EFR3A p.Thr340Ile Uncertain significance Single submitter
- EFR3A p.Thr520Pro Uncertain significance Single submitter
- EFR3A p.Thr553Ile Uncertain significance Single submitter
- EFR3A p.Tyr548Cys Uncertain significance Single submitter
- EFR3A p.Tyr674Cys Uncertain significance Single submitter
-
EFR3A p.Ser675Gly
Likely benign
No assertion criteria
EFR3A-related disorder
All EFR3A variants
Benign 9
- c.2311-5del No assertion criteria EFR3A-related disorder
- c.2311-9T>A No assertion criteria EFR3A-related disorder
- c.489-6_489-5del No assertion criteria EFR3A-related disorder
- c.639-3T>C No assertion criteria EFR3A-related disorder
- p.Asn181= No assertion criteria EFR3A-related disorder
- p.His102Arg No assertion criteria EFR3A-related disorder
- p.Ile197Met No assertion criteria EFR3A-related disorder
- p.Ile625Val No assertion criteria EFR3A-related disorder
- p.Lys265Asn No assertion criteria EFR3A-related disorder
Likely benign 16
- p.Ser219Pro Single submitter
- p.Ser738Asn Single submitter ⚠
- p.Ser791= Single submitter
- p.Val364Ala Single submitter
- p.Val5= Single submitter
- c.2065+1011C>T No assertion criteria EFR3A-related disorder
- c.856-9C>T No assertion criteria EFR3A-related disorder
- p.Arg214His No assertion criteria EFR3A-related disorder
- p.His639= No assertion criteria EFR3A-related disorder
- p.Leu441= No assertion criteria EFR3A-related disorder
- p.Leu464= No assertion criteria EFR3A-related disorder
- p.Pro218= No assertion criteria EFR3A-related disorder
- p.Pro332= No assertion criteria EFR3A-related disorder
- p.Pro790= No assertion criteria EFR3A-related disorder
- p.Ser675Gly No assertion criteria EFR3A-related disorder ⚠
- p.Ser694= No assertion criteria EFR3A-related disorder
Uncertain significance 105
- p.Ile735Val Multiple submitters ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala455Val Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala575Ser Single submitter ⚠
- p.Ala771Thr Single submitter ⚠
- p.Ala779Pro Single submitter ⚠
- p.Ala80Ser Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg13Cys Single submitter ⚠
- p.Arg13His Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg214Leu Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Arg309Trp Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg642Lys Single submitter ⚠
- p.Arg692Gln Single submitter ⚠
- p.Arg692Gly Single submitter ⚠
- p.Arg787Cys Single submitter ⚠
- p.Asn373Ser Single submitter ⚠
- p.Asn485Lys Single submitter ⚠
- p.Asn526Ser Single submitter ⚠
- p.Asn543Ile Single submitter ⚠
- p.Asn588Ile Single submitter ⚠
- p.Asp355Glu Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp36His Single submitter ⚠
- p.Asp395Val Single submitter ⚠
- p.Asp420Gly Single submitter ⚠
- p.Asp519Gly Single submitter ⚠
- p.Asp717Asn Single submitter ⚠
- p.Gln83His Single submitter ⚠
- p.Glu163Asp Single submitter ⚠
- p.Glu352Lys Single submitter ⚠
- p.Glu474Lys Single submitter ⚠
- p.Glu566Gly Single submitter ⚠
- p.Glu638Lys Single submitter ⚠
- p.Glu690Gly Single submitter ⚠
- p.Glu725Gly Single submitter EFR3A-related disorder ⚠
- p.Glu744Gly Single submitter ⚠
- p.Glu762Lys Single submitter ⚠
- p.Gly174Asp Single submitter ⚠
- p.Gly358Glu Single submitter ⚠
- p.His260Gln Single submitter ⚠
- p.His264Arg Single submitter ⚠
- p.His593Tyr Single submitter ⚠
- p.Ile188Val Single submitter ⚠
- p.Ile197Phe Single submitter ⚠
- p.Ile215Leu Single submitter EFR3A-related disorder ⚠
- p.Ile280Thr Single submitter ⚠
- p.Ile314Val Single submitter ⚠
- p.Ile401Thr Single submitter ⚠
- p.Ile572Thr Single submitter ⚠
- p.Ile583Val Single submitter ⚠
- p.Ile584Asn Single submitter ⚠
- p.Ile640Met Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu456Pro Single submitter ⚠
- p.Leu589Met Single submitter ⚠
- p.Leu589Phe Single submitter ⚠
- p.Leu647Phe Single submitter ⚠
- p.Leu693Pro Single submitter ⚠
- p.Leu778Phe Single submitter ⚠
- p.Leu778Val Single submitter ⚠
- p.Lys17Arg Single submitter ⚠
- p.Lys226Arg Single submitter ⚠
- p.Lys305Arg Single submitter ⚠
- p.Lys376Glu Single submitter ⚠
- p.Lys649Glu Single submitter ⚠
- p.Met205Thr Single submitter ⚠
- p.Phe24Leu Single submitter ⚠
- p.Pro113Gln Single submitter ⚠
- p.Pro113Ser Single submitter ⚠
- p.Pro113Thr Single submitter ⚠
- p.Pro217Leu Single submitter ⚠
- p.Pro410Ala Single submitter ⚠
- p.Pro463Thr Single submitter ⚠
- p.Pro503Leu Single submitter ⚠
- p.Pro809Ser Single submitter ⚠
- p.Ser110Leu Single submitter ⚠
- p.Ser222Pro Single submitter ⚠
- p.Ser363Arg Single submitter ⚠
- p.Ser675Thr Single submitter ⚠
- p.Ser698Arg Single submitter ⚠
- p.Ser721Gly Single submitter ⚠
- p.Ser800Tyr Single submitter ⚠
- p.Ter822Cys Single submitter
- p.Thr340Ile Single submitter ⚠
- p.Thr340Ser Single submitter ⚠
- p.Thr416Ala Single submitter ⚠
- p.Thr454Asn Single submitter ⚠
- p.Thr520Pro Single submitter ⚠
- p.Thr553Ile Single submitter ⚠
- p.Tyr396Cys Single submitter ⚠
- p.Tyr548Cys Single submitter ⚠
- p.Tyr674Cys Single submitter ⚠
- p.Val124Ala Single submitter ⚠
- p.Val334Met Single submitter ⚠
- p.Val411Leu Single submitter ⚠
- p.Val703Ile Single submitter ⚠