ELF5 — 39 ClinVar variants
All ClinVar germline ELF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
39 Uncertain significance
Full ELF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ELF5 p.Ala100Ser Uncertain significance Single submitter
- ELF5 p.Ala126Thr Uncertain significance Single submitter
- ELF5 p.Ala137Val Uncertain significance Single submitter
- ELF5 p.Arg116Leu Uncertain significance Single submitter
- ELF5 p.Arg234Gln Uncertain significance Single submitter
- ELF5 p.Arg234Trp Uncertain significance Single submitter
- ELF5 p.Arg57Cys Uncertain significance Single submitter
- ELF5 p.Arg57His Uncertain significance Single submitter
- ELF5 p.Asn75Lys Uncertain significance Single submitter
- ELF5 p.Asp138Val Uncertain significance Single submitter
- ELF5 p.Asp151Asn Uncertain significance Single submitter
- ELF5 p.Asp187Asn Uncertain significance Single submitter
- ELF5 p.Asp18Asn Uncertain significance Single submitter
- ELF5 p.Asp212Gly Uncertain significance Single submitter
- ELF5 p.Asp253Asn Uncertain significance Single submitter
- ELF5 p.Asp253Gly Uncertain significance Single submitter
- ELF5 p.Asp68Asn Uncertain significance Single submitter
- ELF5 p.Cys152Arg Uncertain significance Single submitter
- ELF5 p.Cys90Gly Uncertain significance Single submitter
- ELF5 p.Gln118Lys Uncertain significance Single submitter
- ELF5 p.Glu127Lys Uncertain significance Single submitter
- ELF5 p.Gly105Val Uncertain significance Single submitter
- ELF5 p.Ile77Phe Uncertain significance Single submitter
- ELF5 p.Leu72Trp Uncertain significance Single submitter
- ELF5 p.Phe36Val Uncertain significance Single submitter
- ELF5 p.Pro12Ser Uncertain significance Single submitter
- ELF5 p.Ser129Arg Uncertain significance Single submitter
- ELF5 p.Ser198Leu Uncertain significance Single submitter
- ELF5 p.Ser198Thr Uncertain significance Single submitter
- ELF5 p.Thr158Lys Uncertain significance Single submitter
- ELF5 p.Trp60Cys Uncertain significance Single submitter
- ELF5 p.Val240Met Uncertain significance Single submitter
- ELF5 p.Val5Glu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ELF5 p.Arg116Cys Uncertain significance Single submitter
- ELF5 p.Arg116His Uncertain significance Single submitter
- ELF5 p.Gly249Arg Uncertain significance Single submitter
- ELF5 p.Ile192Leu Uncertain significance Single submitter
- ELF5 p.Pro12Arg Uncertain significance Single submitter
- ELF5 p.Tyr70Cys Uncertain significance Single submitter
All ELF5 variants
Uncertain significance 39
- p.Ala100Ser Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg116Leu Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg234Trp Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Asn75Lys Single submitter ⚠
- p.Asp138Val Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp187Asn Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp212Gly Single submitter ⚠
- p.Asp253Asn Single submitter ⚠
- p.Asp253Gly Single submitter ⚠
- p.Asp68Asn Single submitter ⚠
- p.Cys152Arg Single submitter ⚠
- p.Cys90Gly Single submitter ⚠
- p.Gln118Lys Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Gly105Val Single submitter ⚠
- p.Gly249Arg Single submitter ⚠
- p.Ile192Leu Single submitter ⚠
- p.Ile77Phe Single submitter ⚠
- p.Leu72Trp Single submitter ⚠
- p.Phe36Val Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Ser129Arg Single submitter ⚠
- p.Ser198Leu Single submitter ⚠
- p.Ser198Thr Single submitter ⚠
- p.Thr158Lys Single submitter ⚠
- p.Trp60Cys Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val5Glu Single submitter ⚠