ABHD18 — 54 ClinVar variants
All ClinVar germline ABHD18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
2 Likely benign · 52 Uncertain significance
Full ABHD18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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.
- ABHD18 p.Ala439Thr Uncertain significance Single submitter
- ABHD18 p.Arg124Gly Uncertain significance Single submitter
- ABHD18 p.Arg125Gln Uncertain significance Single submitter
- ABHD18 p.Arg12Lys Uncertain significance Single submitter
- ABHD18 p.Arg137Gln Uncertain significance Single submitter
- ABHD18 p.Arg187Lys Uncertain significance Single submitter
- ABHD18 p.Arg354His Uncertain significance Single submitter
- ABHD18 p.Arg42Gln Uncertain significance Single submitter
- ABHD18 p.Asn292Ser Uncertain significance Single submitter
- ABHD18 p.Asn304Ser Uncertain significance Single submitter
- ABHD18 p.Asp166Asn Uncertain significance Single submitter
- ABHD18 p.Asp313Tyr Uncertain significance Single submitter
- ABHD18 p.Asp52Asn Uncertain significance Single submitter
- ABHD18 p.Cys314Tyr Uncertain significance Single submitter
- ABHD18 p.Gln156His Uncertain significance Single submitter
- ABHD18 p.Gln444His Uncertain significance Single submitter
- ABHD18 p.Glu188Lys Uncertain significance Single submitter
- ABHD18 p.Gly117Ala Uncertain significance Single submitter
- ABHD18 p.His203Arg Uncertain significance Single submitter
- ABHD18 p.His56Arg Uncertain significance Single submitter
- ABHD18 p.Ile39Val Uncertain significance Single submitter
- ABHD18 p.Leu167Phe Uncertain significance Single submitter
- ABHD18 p.Leu330Ser Uncertain significance Single submitter
- ABHD18 p.Met170Thr Uncertain significance Single submitter
- ABHD18 p.Met204Arg Uncertain significance Single submitter
- ABHD18 p.Met204Thr Uncertain significance Single submitter
- ABHD18 p.Pro311Leu Uncertain significance Single submitter
- ABHD18 p.Ser228Cys Uncertain significance Single submitter
- ABHD18 p.Ser419Asn Uncertain significance Single submitter
- ABHD18 p.Ser51Arg Uncertain significance Single submitter
- ABHD18 p.Thr233Ala Uncertain significance Single submitter
- ABHD18 p.Thr233Lys Uncertain significance Single submitter
- ABHD18 p.Thr346Ile Uncertain significance Single submitter
- ABHD18 p.Tyr121Asn Uncertain significance Single submitter
- ABHD18 p.Tyr53Asn Uncertain significance Single submitter
- ABHD18 p.Val294Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ABHD18 p.Ala136Asp Uncertain significance Single submitter
- ABHD18 p.Ala78Thr Uncertain significance Single submitter
- ABHD18 p.Arg11Gln Uncertain significance Single submitter
- ABHD18 p.Arg11Trp Uncertain significance Single submitter
- ABHD18 p.Arg130Cys Uncertain significance Single submitter
- ABHD18 p.Arg130His Uncertain significance Single submitter
- ABHD18 p.Arg372Trp Uncertain significance Single submitter
- ABHD18 p.Gly191Ser Uncertain significance Single submitter
- ABHD18 p.Ile60Thr Uncertain significance Single submitter
- ABHD18 p.Leu181Val Uncertain significance Single submitter
- ABHD18 p.Phe277Ile Uncertain significance Single submitter
- ABHD18 p.Ser223Thr Uncertain significance Single submitter
- ABHD18 p.Ser323Gly Uncertain significance Single submitter
- ABHD18 p.Ser349Cys Uncertain significance Single submitter
- ABHD18 p.Tyr431Cys Uncertain significance Single submitter
- ABHD18 p.Val55Ala Uncertain significance Single submitter
All ABHD18 variants
Uncertain significance 52
- p.Ala136Asp Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg124Gly Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg12Lys Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg187Lys Single submitter ⚠
- p.Arg354His Single submitter ⚠
- p.Arg372Trp Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Asn292Ser Single submitter ⚠
- p.Asn304Ser Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp313Tyr Single submitter ⚠
- p.Asp52Asn Single submitter ⚠
- p.Cys314Tyr Single submitter ⚠
- p.Gln156His Single submitter ⚠
- p.Gln444His Single submitter ⚠
- p.Glu188Lys Single submitter ⚠
- p.Gly117Ala Single submitter ⚠
- p.Gly191Ser Single submitter ⚠
- p.His203Arg Single submitter ⚠
- p.His56Arg Single submitter ⚠
- p.Ile39Val Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Leu167Phe Single submitter ⚠
- p.Leu181Val Single submitter ⚠
- p.Leu330Ser Single submitter ⚠
- p.Met170Thr Single submitter ⚠
- p.Met204Arg Single submitter ⚠
- p.Met204Thr Single submitter ⚠
- p.Phe277Ile Single submitter ⚠
- p.Pro311Leu Single submitter ⚠
- p.Ser223Thr Single submitter ⚠
- p.Ser228Cys Single submitter ⚠
- p.Ser323Gly Single submitter ⚠
- p.Ser349Cys Single submitter ⚠
- p.Ser419Asn Single submitter ⚠
- p.Ser51Arg Single submitter ⚠
- p.Thr233Ala Single submitter ⚠
- p.Thr233Lys Single submitter ⚠
- p.Thr346Ile Single submitter ⚠
- p.Tyr121Asn Single submitter ⚠
- p.Tyr431Cys Single submitter ⚠
- p.Tyr53Asn Single submitter ⚠
- p.Val294Ile Single submitter ⚠
- p.Val55Ala Single submitter ⚠