ABHD3 — 47 ClinVar variants
All ClinVar germline ABHD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Benign · 46 Uncertain significance
Full ABHD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD3 p.Ala43Val Uncertain significance Single submitter
- ABHD3 p.Ala45Ser Uncertain significance Single submitter
- ABHD3 p.Arg170Ser Uncertain significance Single submitter
- ABHD3 p.Arg177Lys Uncertain significance Single submitter
- ABHD3 p.Asp135Asn Uncertain significance Single submitter
- ABHD3 p.Asp71Glu Uncertain significance Single submitter
- ABHD3 p.Glu154Val Uncertain significance Single submitter
- ABHD3 p.Glu303Lys Uncertain significance Single submitter
- ABHD3 p.Glu407Val Uncertain significance Single submitter
- ABHD3 p.Gly118Arg Uncertain significance Single submitter
- ABHD3 p.His375Arg Uncertain significance Single submitter
- ABHD3 p.Ile233Phe Uncertain significance Single submitter
- ABHD3 p.Ile233Thr Uncertain significance Single submitter
- ABHD3 p.Leu163Val Uncertain significance Single submitter
- ABHD3 p.Leu34Ile Uncertain significance Single submitter
- ABHD3 p.Leu36Phe Uncertain significance Single submitter
- ABHD3 p.Met390Thr Uncertain significance Single submitter
- ABHD3 p.Met6Ile Uncertain significance Single submitter
- ABHD3 p.Phe214Leu Uncertain significance Single submitter
- ABHD3 p.Pro103Ser Uncertain significance Single submitter
- ABHD3 p.Pro104Leu Uncertain significance Single submitter
- ABHD3 p.Ser64Asn Uncertain significance Single submitter
- ABHD3 p.Thr186Pro Uncertain significance Single submitter
- ABHD3 p.Thr189Ser Uncertain significance Single submitter
- ABHD3 p.Tyr321Asp Uncertain significance Single submitter
- ABHD3 p.Val84Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- ABHD3 p.Pro187Thr Uncertain significance Multiple submitters
- ABHD3 p.Arg108Met Uncertain significance Single submitter
- ABHD3 p.Arg307Gln Uncertain significance Single submitter
- ABHD3 p.Asp126Asn Uncertain significance Single submitter
- ABHD3 p.Glu196Lys Uncertain significance Single submitter
- ABHD3 p.Gly39Asp Uncertain significance Single submitter
- ABHD3 p.His159Arg Uncertain significance Single submitter
- ABHD3 p.Ile142Met Uncertain significance Single submitter
- ABHD3 p.Leu184Phe Uncertain significance Single submitter
- ABHD3 p.Leu230Val Uncertain significance Single submitter
- ABHD3 p.Phe68Leu Uncertain significance Single submitter
- ABHD3 p.Pro210Ser Uncertain significance Single submitter
- ABHD3 p.Pro363Leu Uncertain significance Single submitter
- ABHD3 p.Ser300Cys Uncertain significance Single submitter
- ABHD3 p.Ser349Leu Uncertain significance Single submitter
- ABHD3 p.Ser371Cys Uncertain significance Single submitter
- ABHD3 p.Thr237Met Uncertain significance Single submitter
- ABHD3 p.Val247Ile Uncertain significance Single submitter
- ABHD3 p.Val393Ala Uncertain significance Single submitter
- ABHD3 p.Val84Ala Uncertain significance Single submitter
All ABHD3 variants
Benign 1
- p.Thr273= Multiple submitters
Uncertain significance 46
- p.Pro187Thr Multiple submitters ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala45Ser Single submitter ⚠
- p.Arg108Met Single submitter ⚠
- p.Arg170Ser Single submitter ⚠
- p.Arg177Lys Single submitter ⚠
- p.Arg307Gln Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp71Glu Single submitter ⚠
- p.Glu154Val Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu303Lys Single submitter ⚠
- p.Glu407Val Single submitter ⚠
- p.Gly118Arg Single submitter ⚠
- p.Gly39Asp Single submitter ⚠
- p.His159Arg Single submitter ⚠
- p.His375Arg Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile233Phe Single submitter ⚠
- p.Ile233Thr Single submitter ⚠
- p.Leu163Val Single submitter ⚠
- p.Leu184Phe Single submitter ⚠
- p.Leu230Val Single submitter ⚠
- p.Leu34Ile Single submitter ⚠
- p.Leu36Phe Single submitter ⚠
- p.Met390Thr Single submitter ⚠
- p.Met6Ile Single submitter ⚠
- p.Phe214Leu Single submitter ⚠
- p.Phe68Leu Single submitter ⚠
- p.Pro103Ser Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Pro363Leu Single submitter ⚠
- p.Ser300Cys Single submitter ⚠
- p.Ser349Leu Single submitter ⚠
- p.Ser371Cys Single submitter ⚠
- p.Ser64Asn Single submitter ⚠
- p.Thr186Pro Single submitter ⚠
- p.Thr189Ser Single submitter ⚠
- p.Thr237Met Single submitter ⚠
- p.Tyr321Asp Single submitter ⚠
- p.Val247Ile Single submitter ⚠
- p.Val393Ala Single submitter ⚠
- p.Val84Ala Single submitter ⚠
- p.Val84Ile Single submitter ⚠