ABHD11 — 65 ClinVar variants
All ClinVar germline ABHD11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
5 Likely benign · 60 Uncertain significance
Full ABHD11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD11 c.-18G>T Uncertain significance Single submitter
- ABHD11 p.Ala154Thr Uncertain significance Single submitter
- ABHD11 p.Ala181Thr Uncertain significance Single submitter
- ABHD11 p.Ala193Val Uncertain significance Single submitter
- ABHD11 p.Ala7Pro Uncertain significance Single submitter
- ABHD11 p.Ala81Val Uncertain significance Single submitter
- ABHD11 p.Arg188Leu Uncertain significance Single submitter
- ABHD11 p.Arg272Gln Uncertain significance Single submitter
- ABHD11 p.Arg293His Uncertain significance Single submitter
- ABHD11 p.Asn74Ser Uncertain significance Single submitter
- ABHD11 p.Asp98Glu Uncertain significance Single submitter
- ABHD11 p.Gln242Arg Uncertain significance Single submitter
- ABHD11 p.Glu216Asp Uncertain significance Single submitter
- ABHD11 p.Glu216Gly Uncertain significance Single submitter
- ABHD11 p.Glu245Ala Uncertain significance Single submitter
- ABHD11 p.Glu269Lys Uncertain significance Single submitter
- ABHD11 p.Gly134Glu Uncertain significance Single submitter
- ABHD11 p.Gly16Ser Uncertain significance Single submitter
- ABHD11 p.Gly37Trp Uncertain significance Single submitter
- ABHD11 p.His96Asp Uncertain significance Single submitter
- ABHD11 p.Ile153Val Uncertain significance Single submitter
- ABHD11 p.Ile298Thr Uncertain significance Single submitter
- ABHD11 p.Leu51Pro Uncertain significance Single submitter
- ABHD11 p.Pro119Leu Uncertain significance Single submitter
- ABHD11 p.Pro119Ser Uncertain significance Single submitter
- ABHD11 p.Pro17Arg Uncertain significance Single submitter
- ABHD11 p.Pro26Ser Uncertain significance Single submitter
- ABHD11 p.Pro283Ser Uncertain significance Single submitter
- ABHD11 p.Ser265Arg Uncertain significance Single submitter
- ABHD11 p.Ser31Ile Uncertain significance Single submitter
- ABHD11 p.Thr281Met Uncertain significance Single submitter
- ABHD11 p.Thr90Ser Uncertain significance Single submitter
- ABHD11 p.Val127Ile Uncertain significance Single submitter
- ABHD11 p.Val206Met Uncertain significance Single submitter
- ABHD11 p.Val222Met Uncertain significance Single submitter
- ABHD11 p.Val25Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ABHD11 p.Arg151Cys Uncertain significance Single submitter
- ABHD11 p.Gly85Cys Uncertain significance Single submitter
- ABHD11 p.Leu143Val Uncertain significance Single submitter
- ABHD11 p.Phe168Leu Uncertain significance Single submitter
- ABHD11 p.Phe221Ser Uncertain significance Single submitter
- ABHD11 p.Phe67Leu Uncertain significance Single submitter
All ABHD11 variants
Likely benign 5
- p.Arg188His Single submitter
- p.Arg49Lys Single submitter
- p.Ile298Met Single submitter
- p.Ser75= Single submitter
- p.Val129Ile Single submitter
Uncertain significance 60
- c.-18G>T Single submitter ⚠
- p.Ala154Thr Single submitter ⚠
- p.Ala181Thr Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala285Thr Single submitter
- p.Ala7Pro Single submitter ⚠
- p.Ala81Val Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg188Leu Single submitter ⚠
- p.Arg207Gln Single submitter
- p.Arg207Trp Single submitter
- p.Arg272Gln Single submitter ⚠
- p.Arg272Trp Single submitter
- p.Arg276Pro Single submitter
- p.Arg293His Single submitter ⚠
- p.Asn226Ser Single submitter
- p.Asn72Asp Single submitter
- p.Asn74Ser Single submitter ⚠
- p.Asp98Glu Single submitter ⚠
- p.Gln144His Single submitter
- p.Gln242Arg Single submitter ⚠
- p.Glu216Asp Single submitter ⚠
- p.Glu216Gly Single submitter ⚠
- p.Glu245Ala Single submitter ⚠
- p.Glu269Lys Single submitter ⚠
- p.Gly134Glu Single submitter ⚠
- p.Gly16Ser Single submitter ⚠
- p.Gly37Trp Single submitter ⚠
- p.Gly53Val Single submitter
- p.Gly85Cys Single submitter ⚠
- p.His96Asp Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile298Thr Single submitter ⚠
- p.Ile301Thr Single submitter
- p.Leu118Val Single submitter
- p.Leu143Val Single submitter ⚠
- p.Leu51Pro Single submitter ⚠
- p.Phe168Leu Single submitter ⚠
- p.Phe221Ser Single submitter ⚠
- p.Phe67Leu Single submitter ⚠
- p.Phe73Val Single submitter
- p.Pro119Leu Single submitter ⚠
- p.Pro119Ser Single submitter ⚠
- p.Pro125Leu Single submitter
- p.Pro17Arg Single submitter ⚠
- p.Pro264Arg Single submitter
- p.Pro26Ser Single submitter ⚠
- p.Pro275His Single submitter
- p.Pro283Ser Single submitter ⚠
- p.Ser111Arg Single submitter
- p.Ser265Arg Single submitter ⚠
- p.Ser31Ile Single submitter ⚠
- p.Thr212Ile Single submitter
- p.Thr281Met Single submitter ⚠
- p.Thr90Arg Single submitter
- p.Thr90Ser Single submitter ⚠
- p.Val127Ile Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val25Leu Single submitter ⚠