EFS — 90 ClinVar variants
All ClinVar germline EFS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
1 Benign · 2 Likely benign · 87 Uncertain significance
Full EFS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFS p.Ala167Thr Uncertain significance Single submitter
- EFS p.Ala186Val Uncertain significance Single submitter
- EFS p.Ala219Asp Uncertain significance Single submitter
- EFS p.Ala262Ser Uncertain significance Single submitter
- EFS p.Ala285Ser Uncertain significance Single submitter
- EFS p.Ala560Ser Uncertain significance Single submitter
- EFS p.Arg210Gln Uncertain significance Single submitter
- EFS p.Arg304His Uncertain significance Single submitter
- EFS p.Arg343His Uncertain significance Single submitter
- EFS p.Arg483His Uncertain significance Single submitter
- EFS p.Asn231Ser Uncertain significance Single submitter
- EFS p.Asn370Ser Uncertain significance Single submitter
- EFS p.Asn464Thr Uncertain significance Single submitter
- EFS p.Asn61Asp Uncertain significance Single submitter
- EFS p.Asp143Glu Uncertain significance Single submitter
- EFS p.Asp363Gly Uncertain significance Single submitter
- EFS p.Asp432Gly Uncertain significance Single submitter
- EFS p.Gly247Asp Uncertain significance Single submitter
- EFS p.Gly259Arg Uncertain significance Single submitter
- EFS p.Gly270Glu Uncertain significance Single submitter
- EFS p.Gly349Val Uncertain significance Single submitter
- EFS p.Gly394Arg Uncertain significance Single submitter
- EFS p.Gly423Arg Uncertain significance Single submitter
- EFS p.Gly431Arg Uncertain significance Single submitter
- EFS p.Gly528Ser Uncertain significance Single submitter
- EFS p.His292Leu Uncertain significance Single submitter
- EFS p.Lys351Glu Uncertain significance Single submitter
- EFS p.Met377Thr Uncertain significance Single submitter
- EFS p.Pro115Ala Uncertain significance Single submitter
- EFS p.Pro180Ser Uncertain significance Single submitter
- EFS p.Pro202Ser Uncertain significance Single submitter
- EFS p.Pro212Leu Uncertain significance Single submitter
- EFS p.Pro297Ser Uncertain significance Single submitter
- EFS p.Pro397Ala Uncertain significance Single submitter
- EFS p.Pro467Gln Uncertain significance Single submitter
- EFS p.Pro561Leu Uncertain significance Single submitter
- EFS p.Ser287Arg Uncertain significance Single submitter
- EFS p.Ser298Pro Uncertain significance Single submitter
- EFS p.Ser558Arg Uncertain significance Single submitter
- EFS p.Thr248Ser Uncertain significance Single submitter
- EFS p.Trp206Cys Uncertain significance Single submitter
- EFS p.Tyr14His Uncertain significance Single submitter
- EFS p.Tyr347Cys Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- EFS p.Ala40Val Uncertain significance Single submitter
- EFS p.Ala495Pro Uncertain significance Single submitter
- EFS p.Ala498Val Uncertain significance Single submitter
- EFS p.Arg11Trp Uncertain significance Single submitter
- EFS p.Arg156Trp Uncertain significance Single submitter
- EFS p.Arg295Trp Uncertain significance Single submitter
- EFS p.Arg304Cys Uncertain significance Single submitter
- EFS p.Arg304Leu Uncertain significance Single submitter
- EFS p.Arg335Leu Uncertain significance Single submitter
- EFS p.Arg335Trp Uncertain significance Single submitter
- EFS p.Arg33Trp Uncertain significance Single submitter
- EFS p.Arg343Cys Uncertain significance Single submitter
- EFS p.Arg493Trp Uncertain significance Single submitter
- EFS p.Gln551Lys Uncertain significance Single submitter
- EFS p.Glu183Lys Uncertain significance Single submitter
- EFS p.Glu211Lys Uncertain significance Single submitter
- EFS p.Glu410Lys Uncertain significance Single submitter
- EFS p.Glu96Lys Uncertain significance Single submitter
- EFS p.Gly45Ser Uncertain significance Single submitter
- EFS p.Gly512Asp Uncertain significance Single submitter
- EFS p.Gly53Ser Uncertain significance Single submitter
- EFS p.Ile216Phe Uncertain significance Single submitter
- EFS p.Leu223Val Uncertain significance Single submitter
- EFS p.Leu469Phe Uncertain significance Single submitter
- EFS p.Leu500Val Uncertain significance Single submitter
- EFS p.Pro131Ser Uncertain significance Single submitter
- EFS p.Pro214His Uncertain significance Single submitter
- EFS p.Pro220Ser Uncertain significance Single submitter
- EFS p.Pro256Leu Uncertain significance Single submitter
- EFS p.Pro322Ser Uncertain significance Single submitter
- EFS p.Pro326Ser Uncertain significance Single submitter
- EFS p.Pro84Leu Likely benign Single submitter
- EFS p.Ser123Cys Uncertain significance Single submitter
- EFS p.Ser20Cys Uncertain significance Single submitter
- EFS p.Ser20Phe Uncertain significance Single submitter
- EFS p.Ser20Tyr Uncertain significance Single submitter
- EFS p.Ser445Asn Uncertain significance Single submitter
- EFS p.Thr17Pro Uncertain significance Single submitter
- EFS p.Thr509Ile Uncertain significance Single submitter
- EFS p.Val428Ala Uncertain significance Single submitter
- EFS p.Val454Gly Uncertain significance Single submitter
- EFS p.Val471Met Uncertain significance Single submitter
- EFS p.Val487Ala Uncertain significance Single submitter
- EFS p.Val487Phe Uncertain significance Single submitter
- EFS p.Val519Met Uncertain significance Single submitter
All EFS variants
Benign 1
- p.Pro141= Multiple submitters
Likely benign 2
- p.Pro416Leu Single submitter
- p.Pro84Leu Single submitter ⚠
Uncertain significance 87
- p.Ala167Thr Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala219Asp Single submitter ⚠
- p.Ala262Ser Single submitter ⚠
- p.Ala285Ser Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Ala495Pro Single submitter ⚠
- p.Ala498Val Single submitter ⚠
- p.Ala560Ser Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg210Gln Single submitter ⚠
- p.Arg295Trp Single submitter ⚠
- p.Arg304Cys Single submitter ⚠
- p.Arg304His Single submitter ⚠
- p.Arg304Leu Single submitter ⚠
- p.Arg335Leu Single submitter ⚠
- p.Arg335Trp Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg343Cys Single submitter ⚠
- p.Arg343His Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg493Trp Single submitter ⚠
- p.Asn231Ser Single submitter ⚠
- p.Asn370Ser Single submitter ⚠
- p.Asn464Thr Single submitter ⚠
- p.Asn61Asp Single submitter ⚠
- p.Asp143Glu Single submitter ⚠
- p.Asp363Gly Single submitter ⚠
- p.Asp432Gly Single submitter ⚠
- p.Gln551Lys Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu410Lys Single submitter ⚠
- p.Glu96Lys Single submitter ⚠
- p.Gly247Asp Single submitter ⚠
- p.Gly259Arg Single submitter ⚠
- p.Gly270Glu Single submitter ⚠
- p.Gly349Val Single submitter ⚠
- p.Gly394Arg Single submitter ⚠
- p.Gly423Arg Single submitter ⚠
- p.Gly431Arg Single submitter ⚠
- p.Gly45Ser Single submitter ⚠
- p.Gly512Asp Single submitter ⚠
- p.Gly528Ser Single submitter ⚠
- p.Gly53Ser Single submitter ⚠
- p.His292Leu Single submitter ⚠
- p.Ile216Phe Single submitter ⚠
- p.Leu223Val Single submitter ⚠
- p.Leu469Phe Single submitter ⚠
- p.Leu500Val Single submitter ⚠
- p.Lys351Glu Single submitter ⚠
- p.Met377Thr Single submitter ⚠
- p.Pro115Ala Single submitter ⚠
- p.Pro131Ser Single submitter ⚠
- p.Pro180Ser Single submitter ⚠
- p.Pro202Ser Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro214His Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro297Ser Single submitter ⚠
- p.Pro322Ser Single submitter ⚠
- p.Pro326Ser Single submitter ⚠
- p.Pro397Ala Single submitter ⚠
- p.Pro467Gln Single submitter ⚠
- p.Pro561Leu Single submitter ⚠
- p.Ser123Cys Single submitter ⚠
- p.Ser20Cys Single submitter ⚠
- p.Ser20Phe Single submitter ⚠
- p.Ser20Tyr Single submitter ⚠
- p.Ser287Arg Single submitter ⚠
- p.Ser298Pro Single submitter ⚠
- p.Ser445Asn Single submitter ⚠
- p.Ser558Arg Single submitter ⚠
- p.Thr17Pro Single submitter ⚠
- p.Thr248Ser Single submitter ⚠
- p.Thr509Ile Single submitter ⚠
- p.Trp206Cys Single submitter ⚠
- p.Tyr14His Single submitter ⚠
- p.Tyr347Cys Single submitter ⚠
- p.Val428Ala Single submitter ⚠
- p.Val454Gly Single submitter ⚠
- p.Val471Met Single submitter ⚠
- p.Val487Ala Single submitter ⚠
- p.Val487Phe Single submitter ⚠
- p.Val519Met Single submitter ⚠