ABHD4 — 56 ClinVar variants
All ClinVar germline ABHD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
56 Uncertain significance
Full ABHD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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.
- ABHD4 p.Ala230Glu Uncertain significance Single submitter
- ABHD4 p.Arg115Lys Uncertain significance Single submitter
- ABHD4 p.Arg132Gln Uncertain significance Single submitter
- ABHD4 p.Arg185Cys Uncertain significance Single submitter
- ABHD4 p.Arg185His Uncertain significance Single submitter
- ABHD4 p.Arg273Gln Uncertain significance Single submitter
- ABHD4 p.Arg305Trp Uncertain significance Single submitter
- ABHD4 p.Arg311Gln Uncertain significance Single submitter
- ABHD4 p.Arg94His Uncertain significance Single submitter
- ABHD4 p.Arg95His Uncertain significance Single submitter
- ABHD4 p.Asn87Ser Uncertain significance Single submitter
- ABHD4 p.Asp224Val Uncertain significance Single submitter
- ABHD4 p.Asp325Val Uncertain significance Single submitter
- ABHD4 p.Gly11Ser Uncertain significance Single submitter
- ABHD4 p.Gly173Ser Uncertain significance Single submitter
- ABHD4 p.Gly216Ser Uncertain significance Single submitter
- ABHD4 p.Gly252Val Uncertain significance Single submitter
- ABHD4 p.His320Arg Uncertain significance Single submitter
- ABHD4 p.Met140Thr Uncertain significance Single submitter
- ABHD4 p.Met270Thr Uncertain significance Single submitter
- ABHD4 p.Phe330Val Uncertain significance Single submitter
- ABHD4 p.Pro160Leu Uncertain significance Single submitter
- ABHD4 p.Pro178Ser Uncertain significance Single submitter
- ABHD4 p.Pro187Ser Uncertain significance Single submitter
- ABHD4 p.Pro269Arg Uncertain significance Single submitter
- ABHD4 p.Pro70Leu Uncertain significance Single submitter
- ABHD4 p.Ser127Leu Uncertain significance Single submitter
- ABHD4 p.Ser49Thr Uncertain significance Single submitter
- ABHD4 p.Thr58Met Uncertain significance Single submitter
- ABHD4 p.Trp131Arg Uncertain significance Single submitter
- ABHD4 p.Tyr155His Uncertain significance Single submitter
- ABHD4 p.Val194Met Uncertain significance Single submitter
- ABHD4 p.Val209Ile Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- ABHD4 p.Ala2Thr Uncertain significance Single submitter
- ABHD4 p.Arg200Cys Uncertain significance Single submitter
- ABHD4 p.Arg21His Uncertain significance Single submitter
- ABHD4 p.Arg267Gln Uncertain significance Single submitter
- ABHD4 p.Arg268Cys Uncertain significance Single submitter
- ABHD4 p.Arg278Gln Uncertain significance Single submitter
- ABHD4 p.Arg68His Uncertain significance Single submitter
- ABHD4 p.Asp161Val Uncertain significance Single submitter
- ABHD4 p.Cys38Phe Uncertain significance Single submitter
- ABHD4 p.Glu133Lys Uncertain significance Single submitter
- ABHD4 p.Glu64Lys Uncertain significance Single submitter
- ABHD4 p.Ile157Val Uncertain significance Single submitter
- ABHD4 p.Ile85Phe Uncertain significance Single submitter
- ABHD4 p.Lys158Gln Uncertain significance Single submitter
- ABHD4 p.Lys279Glu Uncertain significance Single submitter
- ABHD4 p.Phe225Leu Uncertain significance Single submitter
- ABHD4 p.Phe263Leu Uncertain significance Single submitter
- ABHD4 p.Pro178Leu Uncertain significance Single submitter
- ABHD4 p.Pro188Ala Uncertain significance Single submitter
- ABHD4 p.Thr295Asn Uncertain significance Single submitter
- ABHD4 p.Thr297Met Uncertain significance Single submitter
- ABHD4 p.Thr69Ala Uncertain significance Single submitter
- ABHD4 p.Val48Ile Uncertain significance Single submitter
All ABHD4 variants
Uncertain significance 56
- p.Ala230Glu Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Arg115Lys Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg268Cys Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg278Gln Single submitter ⚠
- p.Arg305Trp Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Asn87Ser Single submitter ⚠
- p.Asp161Val Single submitter ⚠
- p.Asp224Val Single submitter ⚠
- p.Asp325Val Single submitter ⚠
- p.Cys38Phe Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu64Lys Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly173Ser Single submitter ⚠
- p.Gly216Ser Single submitter ⚠
- p.Gly252Val Single submitter ⚠
- p.His320Arg Single submitter ⚠
- p.Ile157Val Single submitter ⚠
- p.Ile85Phe Single submitter ⚠
- p.Lys158Gln Single submitter ⚠
- p.Lys279Glu Single submitter ⚠
- p.Met140Thr Single submitter ⚠
- p.Met270Thr Single submitter ⚠
- p.Phe225Leu Single submitter ⚠
- p.Phe263Leu Single submitter ⚠
- p.Phe330Val Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Pro178Leu Single submitter ⚠
- p.Pro178Ser Single submitter ⚠
- p.Pro187Ser Single submitter ⚠
- p.Pro188Ala Single submitter ⚠
- p.Pro269Arg Single submitter ⚠
- p.Pro70Leu Single submitter ⚠
- p.Ser127Leu Single submitter ⚠
- p.Ser49Thr Single submitter ⚠
- p.Thr295Asn Single submitter ⚠
- p.Thr297Met Single submitter ⚠
- p.Thr58Met Single submitter ⚠
- p.Thr69Ala Single submitter ⚠
- p.Trp131Arg Single submitter ⚠
- p.Tyr155His Single submitter ⚠
- p.Val194Met Single submitter ⚠
- p.Val209Ile Single submitter ⚠
- p.Val48Ile Single submitter ⚠