ABHD2 — 45 ClinVar variants
All ClinVar germline ABHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Benign · 41 Uncertain significance
Full ABHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD2 p.Ala274Thr Uncertain significance Single submitter
- ABHD2 p.Arg175Cys Uncertain significance Single submitter
- ABHD2 p.Arg254Gln Uncertain significance Single submitter
- ABHD2 p.Arg293Gln Uncertain significance Single submitter
- ABHD2 p.Arg328Gln Uncertain significance Single submitter
- ABHD2 p.Arg363Gln Uncertain significance Single submitter
- ABHD2 p.Arg409His Uncertain significance Single submitter
- ABHD2 p.Arg90Ser Uncertain significance Single submitter
- ABHD2 p.Asn306Ser Uncertain significance Single submitter
- ABHD2 p.Asn410Lys Uncertain significance Single submitter
- ABHD2 p.Asp423Asn Uncertain significance Single submitter
- ABHD2 p.Gln251Arg Uncertain significance Single submitter
- ABHD2 p.Gln284Arg Uncertain significance Single submitter
- ABHD2 p.Glu287Lys Uncertain significance Single submitter
- ABHD2 p.Glu388Lys Uncertain significance Single submitter
- ABHD2 p.Gly313Ser Uncertain significance Single submitter
- ABHD2 p.Ile143Val Uncertain significance Single submitter
- ABHD2 p.Ile404Val Uncertain significance Single submitter
- ABHD2 p.Leu424Met Uncertain significance Single submitter
- ABHD2 p.Leu5Val Uncertain significance Single submitter
- ABHD2 p.Lys64Glu Uncertain significance Single submitter
- ABHD2 p.Met327Val Uncertain significance Single submitter
- ABHD2 p.Met367Leu Uncertain significance Single submitter
- ABHD2 p.Phe114Leu Uncertain significance Single submitter
- ABHD2 p.Pro8Ser Uncertain significance Single submitter
- ABHD2 p.Thr289Met Uncertain significance Single submitter
- ABHD2 p.Thr354Ser Uncertain significance Single submitter
- ABHD2 p.Tyr334Cys Uncertain significance Single submitter
- ABHD2 p.Val203Ile Uncertain significance Single submitter
- ABHD2 p.Val366Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ABHD2 p.Ala222Gly Uncertain significance Single submitter
- ABHD2 p.Cys414Trp Uncertain significance Single submitter
- ABHD2 p.Met128Thr Uncertain significance Single submitter
- ABHD2 p.Pro60Arg Uncertain significance Single submitter
- ABHD2 p.Pro94Arg Uncertain significance Single submitter
- ABHD2 p.Ser351Asn Uncertain significance Single submitter
- ABHD2 p.Ser351Gly Uncertain significance Single submitter
- ABHD2 p.Val13Met Uncertain significance Single submitter
- ABHD2 p.Val17Met Uncertain significance Single submitter
- ABHD2 p.Val231Ile Uncertain significance Single submitter
- ABHD2 p.Val420Met Uncertain significance Single submitter
All ABHD2 variants
Benign 4
- p.His312= Multiple submitters
- p.Tyr400= Multiple submitters
- p.Val420= Multiple submitters
- c.926+9G>T Single submitter
Uncertain significance 41
- p.Ala222Gly Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg363Gln Single submitter ⚠
- p.Arg409His Single submitter ⚠
- p.Arg90Ser Single submitter ⚠
- p.Asn306Ser Single submitter ⚠
- p.Asn410Lys Single submitter ⚠
- p.Asp423Asn Single submitter ⚠
- p.Cys414Trp Single submitter ⚠
- p.Gln251Arg Single submitter ⚠
- p.Gln284Arg Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Glu388Lys Single submitter ⚠
- p.Gly313Ser Single submitter ⚠
- p.Ile143Val Single submitter ⚠
- p.Ile404Val Single submitter ⚠
- p.Leu424Met Single submitter ⚠
- p.Leu5Val Single submitter ⚠
- p.Lys64Glu Single submitter ⚠
- p.Met128Thr Single submitter ⚠
- p.Met327Val Single submitter ⚠
- p.Met367Leu Single submitter ⚠
- p.Phe114Leu Single submitter ⚠
- p.Pro60Arg Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Pro94Arg Single submitter ⚠
- p.Ser351Asn Single submitter ⚠
- p.Ser351Gly Single submitter ⚠
- p.Thr289Met Single submitter ⚠
- p.Thr354Ser Single submitter ⚠
- p.Tyr334Cys Single submitter ⚠
- p.Val13Met Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val366Ile Single submitter ⚠
- p.Val420Met Single submitter ⚠