EFHD2 — 26 ClinVar variants
All ClinVar germline EFHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
26 Uncertain significance
Full EFHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFHD2 p.Ala51Val Uncertain significance Single submitter
- EFHD2 p.Ala63Ser Uncertain significance Single submitter
- EFHD2 p.Glu5Lys Uncertain significance Single submitter
- EFHD2 p.Glu71Lys Uncertain significance Single submitter
- EFHD2 p.Gly132Arg Uncertain significance Single submitter
- EFHD2 p.Gly39Glu Uncertain significance Single submitter
- EFHD2 p.Gly70Arg Uncertain significance Single submitter
- EFHD2 p.Ile156Thr Uncertain significance Single submitter
- EFHD2 p.Leu235Pro Uncertain significance Single submitter
- EFHD2 p.Pro41Ser Uncertain significance Single submitter
- EFHD2 p.Ser192Asn Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- EFHD2 p.Ala160Val Uncertain significance Single submitter
- EFHD2 p.Ala161Val Uncertain significance Single submitter
- EFHD2 p.Ala200Thr Uncertain significance Single submitter
- EFHD2 p.Ala37Val Uncertain significance Single submitter
- EFHD2 p.Ala44Val Uncertain significance Single submitter
- EFHD2 p.Ala45Thr Uncertain significance Single submitter
- EFHD2 p.Arg151Gln Uncertain significance Single submitter
- EFHD2 p.Arg176Cys Uncertain significance Single submitter
- EFHD2 p.Arg176His Uncertain significance Single submitter
- EFHD2 p.Gln199His Uncertain significance Single submitter
- EFHD2 p.Glu23Lys Uncertain significance Single submitter
- EFHD2 p.Gly110Ser Uncertain significance Single submitter
- EFHD2 p.Ile112Val Uncertain significance Single submitter
- EFHD2 p.Pro25Leu Uncertain significance Single submitter
- EFHD2 p.Val173Met Uncertain significance Single submitter
All EFHD2 variants
Uncertain significance 26
- p.Ala160Val Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala51Val Single submitter ⚠
- p.Ala63Ser Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Gln199His Single submitter ⚠
- p.Glu23Lys Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Gly110Ser Single submitter ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly39Glu Single submitter ⚠
- p.Gly70Arg Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile156Thr Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Ser192Asn Single submitter ⚠
- p.Val173Met Single submitter ⚠