ABHD1 — 75 ClinVar variants

All ClinVar germline ABHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

2 Likely benign · 73 Uncertain significance

Full ABHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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.

Predictors split 43

The independent predictors disagree with each other — read with care.

All ABHD1 variants

Likely benign 2

p.Arg318Gln Single submitter
p.Ser57Pro Single submitter

Uncertain significance 73

p.Ala154Thr Single submitter ⚠
p.Ala172Thr Single submitter ⚠
p.Ala326Glu Single submitter ⚠
p.Ala336Val Single submitter ⚠
p.Ala349Val Single submitter ⚠
p.Ala381Thr Single submitter ⚠
p.Ala50Val Single submitter ⚠
p.Arg160Trp Single submitter ⚠
p.Arg163Cys Single submitter ⚠
p.Arg168Trp Single submitter ⚠
p.Arg191Cys Single submitter ⚠
p.Arg191His Single submitter ⚠
p.Arg239His Single submitter ⚠
p.Arg282Cys Single submitter ⚠
p.Arg285Cys Single submitter ⚠
p.Arg285His Single submitter ⚠
p.Arg290Cys Single submitter ⚠
p.Arg290His Single submitter ⚠
p.Arg318Trp Single submitter ⚠
p.Arg355Gln Single submitter ⚠
p.Arg375Cys Single submitter ⚠
p.Arg375His Single submitter ⚠
p.Arg395Gly Single submitter ⚠
p.Arg395Ser Single submitter ⚠
p.Asn251Ser Single submitter ⚠
p.Asp276Asn Single submitter ⚠
p.Asp315Val Single submitter ⚠
p.Gln136Arg Single submitter ⚠
p.Gln136His Single submitter ⚠
p.Gln146Glu Single submitter ⚠
p.Gln299Glu Single submitter ⚠
p.Gln38Lys Single submitter ⚠
p.Gln96Arg Single submitter ⚠
p.Gln96Pro Single submitter ⚠
p.Gln9Lys Single submitter ⚠
p.Glu165Val Single submitter ⚠
p.Glu182Asp Single submitter ⚠
p.Glu270Gly Single submitter ⚠
p.Glu389Gly Single submitter ⚠
p.Glu401Asp Single submitter ⚠
p.Glu61Gly Single submitter ⚠
p.Glu61Lys Single submitter ⚠
p.Gly390Arg Single submitter ⚠
p.His378Tyr Single submitter ⚠
p.Ile317Thr Single submitter ⚠
p.Ile58Thr Single submitter ⚠
p.Leu105Pro Single submitter ⚠
p.Leu19Val Single submitter ⚠
p.Leu261Phe Single submitter ⚠
p.Leu376His Single submitter ⚠
p.Leu67Pro Single submitter ⚠
p.Lys267Arg Single submitter ⚠
p.Phe287Leu Single submitter ⚠
p.Phe331Leu Single submitter ⚠
p.Pro111Ser Single submitter ⚠
p.Pro367Leu Single submitter ⚠
p.Pro86Ser Single submitter ⚠
p.Ser229Cys Single submitter ⚠
p.Ser229Pro Single submitter ⚠
p.Ser229Thr Single submitter ⚠
p.Ser293Phe Single submitter ⚠
p.Ser345Phe Single submitter ⚠
p.Ser57Phe Single submitter ⚠
p.Ser92Gly Single submitter ⚠
p.Thr169Pro Single submitter ⚠
p.Thr183Ile Single submitter ⚠
p.Thr292Ile Single submitter ⚠
p.Thr353Pro Single submitter ⚠
p.Thr62Asn Single submitter ⚠
p.Thr66Met Single submitter ⚠
p.Tyr305His Single submitter ⚠
p.Val185Met Single submitter ⚠
p.Val25Phe Single submitter ⚠