ABHD16B — 117 ClinVar variants
All ClinVar germline ABHD16B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
2 Likely benign · 115 Uncertain significance
Full ABHD16B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD16B p.Ala20Ser Uncertain significance Single submitter
- ABHD16B p.Ala403Glu Uncertain significance Single submitter
- ABHD16B p.Ala439Pro Uncertain significance Single submitter
- ABHD16B p.Ala49Val Uncertain significance Single submitter
- ABHD16B p.Arg121His Uncertain significance Single submitter
- ABHD16B p.Arg293His Uncertain significance Single submitter
- ABHD16B p.Arg319Ser Uncertain significance Single submitter
- ABHD16B p.Arg330Leu Uncertain significance Single submitter
- ABHD16B p.Arg355Ser Uncertain significance Single submitter
- ABHD16B p.Arg373His Uncertain significance Single submitter
- ABHD16B p.Arg388Gly Uncertain significance Single submitter
- ABHD16B p.Arg434Trp Uncertain significance Single submitter
- ABHD16B p.Arg48Gln Uncertain significance Single submitter
- ABHD16B p.Arg63Gln Uncertain significance Single submitter
- ABHD16B p.Arg80Cys Uncertain significance Single submitter
- ABHD16B p.Asp154Glu Uncertain significance Single submitter
- ABHD16B p.Asp269Glu Uncertain significance Single submitter
- ABHD16B p.Asp64His Uncertain significance Single submitter
- ABHD16B p.Cys177Tyr Uncertain significance Single submitter
- ABHD16B p.Gln321Arg Uncertain significance Single submitter
- ABHD16B p.Glu305Ala Uncertain significance Single submitter
- ABHD16B p.Gly170Arg Uncertain significance Single submitter
- ABHD16B p.Gly249Asp Uncertain significance Single submitter
- ABHD16B p.Gly42Ala Uncertain significance Single submitter
- ABHD16B p.Gly69Arg Uncertain significance Single submitter
- ABHD16B p.His204Tyr Uncertain significance Single submitter
- ABHD16B p.His218Gln Uncertain significance Single submitter
- ABHD16B p.His232Gln Uncertain significance Single submitter
- ABHD16B p.His240Gln Uncertain significance Single submitter
- ABHD16B p.His298Gln Uncertain significance Single submitter
- ABHD16B p.His47Tyr Uncertain significance Single submitter
- ABHD16B p.Leu102Pro Uncertain significance Single submitter
- ABHD16B p.Leu316Arg Uncertain significance Single submitter
- ABHD16B p.Leu67Pro Uncertain significance Single submitter
- ABHD16B p.Phe207Leu Uncertain significance Single submitter
- ABHD16B p.Pro357His Uncertain significance Single submitter
- ABHD16B p.Ser328Leu Uncertain significance Single submitter
- ABHD16B p.Thr120Met Uncertain significance Single submitter
- ABHD16B p.Thr23Ser Uncertain significance Single submitter
- ABHD16B p.Thr51Ala Uncertain significance Single submitter
- ABHD16B p.Trp246Cys Uncertain significance Single submitter
- ABHD16B p.Trp424Ser Uncertain significance Single submitter
- ABHD16B p.Tyr138His Uncertain significance Single submitter
- ABHD16B p.Val38Met Uncertain significance Single submitter
- ABHD16B p.Val3Ile Uncertain significance Single submitter
- ABHD16B p.Val7Gly Uncertain significance Single submitter
Predictors split 69
The independent predictors disagree with each other — read with care.
- ABHD16B p.Ala143Pro Uncertain significance Single submitter
- ABHD16B p.Ala147Gly Uncertain significance Single submitter
- ABHD16B p.Ala181Thr Uncertain significance Single submitter
- ABHD16B p.Ala195Thr Uncertain significance Single submitter
- ABHD16B p.Ala239Val Uncertain significance Single submitter
- ABHD16B p.Ala253Gly Uncertain significance Single submitter
- ABHD16B p.Ala253Val Uncertain significance Single submitter
- ABHD16B p.Ala265Val Uncertain significance Single submitter
- ABHD16B p.Ala53Val Uncertain significance Single submitter
- ABHD16B p.Ala57Val Uncertain significance Single submitter
- ABHD16B p.Ala83Glu Uncertain significance Single submitter
- ABHD16B p.Arg121Cys Uncertain significance Single submitter
- ABHD16B p.Arg133Cys Uncertain significance Single submitter
- ABHD16B p.Arg141Pro Uncertain significance Single submitter
- ABHD16B p.Arg142Gly Uncertain significance Single submitter
- ABHD16B p.Arg161Cys Uncertain significance Single submitter
- ABHD16B p.Arg293Cys Uncertain significance Single submitter
- ABHD16B p.Arg350His Uncertain significance Single submitter
- ABHD16B p.Arg365Cys Uncertain significance Single submitter
- ABHD16B p.Arg399His Uncertain significance Single submitter
- ABHD16B p.Arg39Cys Uncertain significance Single submitter
- ABHD16B p.Arg433Gln Uncertain significance Single submitter
- ABHD16B p.Arg433Trp Uncertain significance Single submitter
- ABHD16B p.Arg435Cys Uncertain significance Single submitter
- ABHD16B p.Arg436Trp Uncertain significance Single submitter
- ABHD16B p.Arg43Gln Uncertain significance Single submitter
- ABHD16B p.Arg43Trp Uncertain significance Single submitter
- ABHD16B p.Arg444Leu Uncertain significance Single submitter
- ABHD16B p.Arg48Trp Uncertain significance Single submitter
- ABHD16B p.Arg91His Uncertain significance Single submitter
- ABHD16B p.Asn300Ser Uncertain significance Single submitter
- ABHD16B p.Asn342Ser Uncertain significance Single submitter
- ABHD16B p.Asp70Asn Uncertain significance Single submitter
- ABHD16B p.Gln217Glu Uncertain significance Single submitter
- ABHD16B p.Gln96Pro Uncertain significance Single submitter
- ABHD16B p.Glu194Gln Uncertain significance Single submitter
- ABHD16B p.Glu353Gly Uncertain significance Single submitter
- ABHD16B p.Glu408Lys Uncertain significance Single submitter
- ABHD16B p.Glu408Val Uncertain significance Single submitter
- ABHD16B p.Gly130Ser Uncertain significance Single submitter
- ABHD16B p.Gly140Ser Uncertain significance Single submitter
- ABHD16B p.Gly150Asp Uncertain significance Single submitter
- ABHD16B p.Gly182Asp Uncertain significance Single submitter
- ABHD16B p.Gly182Val Uncertain significance Single submitter
- ABHD16B p.Gly250Ser Uncertain significance Single submitter
- ABHD16B p.Gly329Val Uncertain significance Single submitter
- ABHD16B p.Gly411Ser Uncertain significance Single submitter
- ABHD16B p.Gly419Arg Uncertain significance Single submitter
- ABHD16B p.His454Tyr Uncertain significance Single submitter
- ABHD16B p.Leu315Val Uncertain significance Single submitter
- ABHD16B p.Met119Lys Uncertain significance Single submitter
- ABHD16B p.Met223Thr Uncertain significance Single submitter
- ABHD16B p.Pro192Leu Uncertain significance Single submitter
- ABHD16B p.Pro311Leu Uncertain significance Single submitter
- ABHD16B p.Pro460Ser Uncertain significance Single submitter
- ABHD16B p.Ser198Cys Uncertain significance Single submitter
- ABHD16B p.Ser326Gly Uncertain significance Single submitter
- ABHD16B p.Thr120Pro Uncertain significance Single submitter
- ABHD16B p.Thr155Ile Uncertain significance Single submitter
- ABHD16B p.Thr327Ile Uncertain significance Single submitter
- ABHD16B p.Tyr112Phe Uncertain significance Single submitter
- ABHD16B p.Val174Ile Uncertain significance Single submitter
- ABHD16B p.Val174Phe Uncertain significance Single submitter
- ABHD16B p.Val242Ala Uncertain significance Single submitter
- ABHD16B p.Val282Leu Uncertain significance Single submitter
- ABHD16B p.Val314Met Uncertain significance Single submitter
- ABHD16B p.Val368Ile Uncertain significance Single submitter
- ABHD16B p.Val59Met Uncertain significance Single submitter
- ABHD16B p.Val7Met Uncertain significance Single submitter
All ABHD16B variants
Likely benign 2
- p.His163Asp Single submitter
- p.Ser46Gly Single submitter
Uncertain significance 115
- p.Ala143Pro Single submitter ⚠
- p.Ala147Gly Single submitter ⚠
- p.Ala181Thr Single submitter ⚠
- p.Ala195Thr Single submitter ⚠
- p.Ala20Ser Single submitter ⚠
- p.Ala239Val Single submitter ⚠
- p.Ala253Gly Single submitter ⚠
- p.Ala253Val Single submitter ⚠
- p.Ala265Val Single submitter ⚠
- p.Ala403Glu Single submitter ⚠
- p.Ala439Pro Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala83Glu Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg121His Single submitter ⚠
- p.Arg133Cys Single submitter ⚠
- p.Arg141Pro Single submitter ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg293Cys Single submitter ⚠
- p.Arg293His Single submitter ⚠
- p.Arg319Ser Single submitter ⚠
- p.Arg330Leu Single submitter ⚠
- p.Arg350His Single submitter ⚠
- p.Arg355Ser Single submitter ⚠
- p.Arg365Cys Single submitter ⚠
- p.Arg373His Single submitter ⚠
- p.Arg388Gly Single submitter ⚠
- p.Arg399His Single submitter ⚠
- p.Arg39Cys Single submitter ⚠
- p.Arg433Gln Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Arg434Trp Single submitter ⚠
- p.Arg435Cys Single submitter ⚠
- p.Arg436Trp Single submitter ⚠
- p.Arg43Gln Single submitter ⚠
- p.Arg43Trp Single submitter ⚠
- p.Arg444Leu Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg48Trp Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn300Ser Single submitter ⚠
- p.Asn342Ser Single submitter ⚠
- p.Asp154Glu Single submitter ⚠
- p.Asp269Glu Single submitter ⚠
- p.Asp64His Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Cys177Tyr Single submitter ⚠
- p.Gln217Glu Single submitter ⚠
- p.Gln321Arg Single submitter ⚠
- p.Gln96Pro Single submitter ⚠
- p.Glu194Gln Single submitter ⚠
- p.Glu305Ala Single submitter ⚠
- p.Glu353Gly Single submitter ⚠
- p.Glu408Lys Single submitter ⚠
- p.Glu408Val Single submitter ⚠
- p.Gly130Ser Single submitter ⚠
- p.Gly140Ser Single submitter ⚠
- p.Gly150Asp Single submitter ⚠
- p.Gly170Arg Single submitter ⚠
- p.Gly182Asp Single submitter ⚠
- p.Gly182Val Single submitter ⚠
- p.Gly249Asp Single submitter ⚠
- p.Gly250Ser Single submitter ⚠
- p.Gly329Val Single submitter ⚠
- p.Gly411Ser Single submitter ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly42Ala Single submitter ⚠
- p.Gly69Arg Single submitter ⚠
- p.His204Tyr Single submitter ⚠
- p.His218Gln Single submitter ⚠
- p.His232Gln Single submitter ⚠
- p.His240Gln Single submitter ⚠
- p.His298Gln Single submitter ⚠
- p.His454Tyr Single submitter ⚠
- p.His47Tyr Single submitter ⚠
- p.Leu102Pro Single submitter ⚠
- p.Leu315Val Single submitter ⚠
- p.Leu316Arg Single submitter ⚠
- p.Leu67Pro Single submitter ⚠
- p.Met119Lys Single submitter ⚠
- p.Met223Thr Single submitter ⚠
- p.Phe207Leu Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro311Leu Single submitter ⚠
- p.Pro357His Single submitter ⚠
- p.Pro460Ser Single submitter ⚠
- p.Ser198Cys Single submitter ⚠
- p.Ser326Gly Single submitter ⚠
- p.Ser328Leu Single submitter ⚠
- p.Thr120Met Single submitter ⚠
- p.Thr120Pro Single submitter ⚠
- p.Thr155Ile Single submitter ⚠
- p.Thr23Ser Single submitter ⚠
- p.Thr327Ile Single submitter ⚠
- p.Thr51Ala Single submitter ⚠
- p.Trp246Cys Single submitter ⚠
- p.Trp424Ser Single submitter ⚠
- p.Tyr112Phe Single submitter ⚠
- p.Tyr138His Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val174Phe Single submitter ⚠
- p.Val242Ala Single submitter ⚠
- p.Val282Leu Single submitter ⚠
- p.Val314Met Single submitter ⚠
- p.Val368Ile Single submitter ⚠
- p.Val38Met Single submitter ⚠
- p.Val3Ile Single submitter ⚠
- p.Val59Met Single submitter ⚠
- p.Val7Gly Single submitter ⚠
- p.Val7Met Single submitter ⚠