ADHFE1 — 77 ClinVar variants
All ClinVar germline ADHFE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
2 Likely benign · 75 Uncertain significance
Full ADHFE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ADHFE1 p.Ala136Asp Uncertain significance Single submitter
- ADHFE1 p.Ala286Glu Uncertain significance Single submitter
- ADHFE1 p.Ala33Val Uncertain significance Single submitter
- ADHFE1 p.Arg299Lys Uncertain significance Single submitter
- ADHFE1 p.Arg55Ile Uncertain significance Single submitter
- ADHFE1 p.Arg55Ser Uncertain significance Single submitter
- ADHFE1 p.Asn349Asp Uncertain significance Single submitter
- ADHFE1 p.Asp302Asn Uncertain significance Single submitter
- ADHFE1 p.Asp347Asn Uncertain significance Single submitter
- ADHFE1 p.Asp67His Uncertain significance Single submitter
- ADHFE1 p.Glu63Lys Uncertain significance Single submitter
- ADHFE1 p.Gly210Asp Uncertain significance Single submitter
- ADHFE1 p.Gly221Arg Uncertain significance Single submitter
- ADHFE1 p.Gly274Ser Uncertain significance Single submitter
- ADHFE1 p.Gly325Ser Uncertain significance Single submitter
- ADHFE1 p.Ile102Thr Uncertain significance Single submitter
- ADHFE1 p.Ile209Asn Uncertain significance Single submitter
- ADHFE1 p.Met231Leu Uncertain significance Single submitter
- ADHFE1 p.Met383Val Uncertain significance Single submitter
- ADHFE1 p.Met94Val Uncertain significance Single submitter
- ADHFE1 p.Phe371Leu Uncertain significance Single submitter
- ADHFE1 p.Thr228Ser Uncertain significance Single submitter
- ADHFE1 p.Tyr30Cys Uncertain significance Single submitter
- ADHFE1 p.Val9Leu Uncertain significance Single submitter
Predictors split 50
The independent predictors disagree with each other — read with care.
- ADHFE1 p.Ala233Thr Uncertain significance Single submitter
- ADHFE1 p.Ala237Thr Uncertain significance Single submitter
- ADHFE1 p.Ala247Ser Uncertain significance Single submitter
- ADHFE1 p.Ala271Glu Uncertain significance Single submitter
- ADHFE1 p.Ala283Ser Uncertain significance Single submitter
- ADHFE1 p.Ala283Val Uncertain significance Single submitter
- ADHFE1 p.Ala286Val Uncertain significance Single submitter
- ADHFE1 p.Ala367Val Uncertain significance Single submitter
- ADHFE1 p.Ala373Thr Uncertain significance Single submitter
- ADHFE1 p.Ala50Thr Uncertain significance Single submitter
- ADHFE1 p.Arg259Gln Uncertain significance Single submitter
- ADHFE1 p.Arg259Trp Uncertain significance Single submitter
- ADHFE1 p.Arg269Gln Uncertain significance Single submitter
- ADHFE1 p.Arg288Trp Uncertain significance Single submitter
- ADHFE1 p.Arg392Cys Uncertain significance Single submitter
- ADHFE1 p.Arg408Trp Uncertain significance Single submitter
- ADHFE1 p.Arg442Gly Uncertain significance Single submitter
- ADHFE1 p.Arg6Gln Uncertain significance Single submitter
- ADHFE1 p.Arg8Gln Uncertain significance Single submitter
- ADHFE1 p.Arg8Trp Uncertain significance Single submitter
- ADHFE1 p.Asn323Ile Uncertain significance Single submitter
- ADHFE1 p.Asp159Gly Uncertain significance Single submitter
- ADHFE1 p.Asp162His Uncertain significance Single submitter
- ADHFE1 p.Cys449Tyr Uncertain significance Single submitter
- ADHFE1 p.Gln440Leu Uncertain significance Single submitter
- ADHFE1 p.Gln91Arg Uncertain significance Single submitter
- ADHFE1 p.Glu441Gln Uncertain significance Single submitter
- ADHFE1 p.Glu63Asp Uncertain significance Single submitter
- ADHFE1 p.Gly325Ala Uncertain significance Single submitter
- ADHFE1 p.His227Tyr Uncertain significance Single submitter
- ADHFE1 p.His357Tyr Uncertain significance Single submitter
- ADHFE1 p.Ile123Thr Uncertain significance Single submitter
- ADHFE1 p.Ile223Thr Uncertain significance Single submitter
- ADHFE1 p.Met49Ile Uncertain significance Single submitter
- ADHFE1 p.Pro167Ser Uncertain significance Single submitter
- ADHFE1 p.Pro180Leu Uncertain significance Single submitter
- ADHFE1 p.Pro366Leu Uncertain significance Single submitter
- ADHFE1 p.Ser213Leu Uncertain significance Single submitter
- ADHFE1 p.Ser250Thr Uncertain significance Single submitter
- ADHFE1 p.Thr186Ala Uncertain significance Single submitter
- ADHFE1 p.Thr252Asn Uncertain significance Single submitter
- ADHFE1 p.Thr364Met Uncertain significance Single submitter
- ADHFE1 p.Thr61Ser Uncertain significance Single submitter
- ADHFE1 p.Tyr202Cys Uncertain significance Single submitter
- ADHFE1 p.Tyr251Cys Uncertain significance Single submitter
- ADHFE1 p.Val174Met Uncertain significance Single submitter
- ADHFE1 p.Val298Phe Uncertain significance Single submitter
- ADHFE1 p.Val361Met Uncertain significance Single submitter
- ADHFE1 p.Val423Ala Uncertain significance Single submitter
- ADHFE1 p.Val443Phe Uncertain significance Single submitter
All ADHFE1 variants
Likely benign 2
- p.Arg234Gln Single submitter
- p.Ile209Thr Single submitter
Uncertain significance 75
- p.Ala136Asp Single submitter ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala247Ser Single submitter ⚠
- p.Ala271Glu Single submitter ⚠
- p.Ala283Ser Single submitter ⚠
- p.Ala283Val Single submitter ⚠
- p.Ala286Glu Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala367Val Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Arg259Gln Single submitter ⚠
- p.Arg259Trp Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Arg299Lys Single submitter ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg442Gly Single submitter ⚠
- p.Arg55Ile Single submitter ⚠
- p.Arg55Ser Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Asn323Ile Single submitter ⚠
- p.Asn349Asp Single submitter ⚠
- p.Asp159Gly Single submitter ⚠
- p.Asp162His Single submitter ⚠
- p.Asp302Asn Single submitter ⚠
- p.Asp347Asn Single submitter ⚠
- p.Asp67His Single submitter ⚠
- p.Cys449Tyr Single submitter ⚠
- p.Gln440Leu Single submitter ⚠
- p.Gln91Arg Single submitter ⚠
- p.Glu441Gln Single submitter ⚠
- p.Glu63Asp Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly210Asp Single submitter ⚠
- p.Gly221Arg Single submitter ⚠
- p.Gly274Ser Single submitter ⚠
- p.Gly325Ala Single submitter ⚠
- p.Gly325Ser Single submitter ⚠
- p.His227Tyr Single submitter ⚠
- p.His357Tyr Single submitter ⚠
- p.Ile102Thr Single submitter ⚠
- p.Ile123Thr Single submitter ⚠
- p.Ile209Asn Single submitter ⚠
- p.Ile223Thr Single submitter ⚠
- p.Met231Leu Single submitter ⚠
- p.Met383Val Single submitter ⚠
- p.Met49Ile Single submitter ⚠
- p.Met94Val Single submitter ⚠
- p.Phe371Leu Single submitter ⚠
- p.Pro167Ser Single submitter ⚠
- p.Pro180Leu Single submitter ⚠
- p.Pro366Leu Single submitter ⚠
- p.Ser213Leu Single submitter ⚠
- p.Ser250Thr Single submitter ⚠
- p.Thr186Ala Single submitter ⚠
- p.Thr228Ser Single submitter ⚠
- p.Thr252Asn Single submitter ⚠
- p.Thr364Met Single submitter ⚠
- p.Thr61Ser Single submitter ⚠
- p.Tyr202Cys Single submitter ⚠
- p.Tyr251Cys Single submitter ⚠
- p.Tyr30Cys Single submitter ⚠
- p.Tyr334Ter Single submitter
- p.Val174Met Single submitter ⚠
- p.Val298Phe Single submitter ⚠
- p.Val361Met Single submitter ⚠
- p.Val423Ala Single submitter ⚠
- p.Val443Phe Single submitter ⚠
- p.Val9Leu Single submitter ⚠