ABHD14B — 32 ClinVar variants
All ClinVar germline ABHD14B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Likely benign · 29 Uncertain significance
Full ABHD14B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD14B p.Ala144Ser Uncertain significance Single submitter
- ABHD14B p.Arg179Gln Uncertain significance Single submitter
- ABHD14B p.Asp160Glu Uncertain significance Single submitter
- ABHD14B p.Gln59Glu Uncertain significance Single submitter
- ABHD14B p.Glu46Lys Uncertain significance Single submitter
- ABHD14B p.Ile84Val Uncertain significance Single submitter
- ABHD14B p.Leu51Pro Uncertain significance Single submitter
- ABHD14B p.Lys151Glu Uncertain significance Single submitter
- ABHD14B p.Pro105Leu Uncertain significance Single submitter
- ABHD14B p.Pro129Leu Uncertain significance Single submitter
- ABHD14B p.Ser44Phe Uncertain significance Single submitter
- ABHD14B p.Ser4Arg Uncertain significance Single submitter
- ABHD14B p.Thr122Met Uncertain significance Single submitter
- ABHD14B p.Val106Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- ABHD14B p.Ala186Thr Uncertain significance Single submitter
- ABHD14B p.Arg179Trp Uncertain significance Single submitter
- ABHD14B p.Arg22Gln Uncertain significance Single submitter
- ABHD14B p.Arg42Cys Uncertain significance Single submitter
- ABHD14B p.Arg63Gln Likely benign Single submitter
- ABHD14B p.Arg63Trp Uncertain significance Single submitter
- ABHD14B p.Leu155Val Uncertain significance Single submitter
- ABHD14B p.Met164Val Uncertain significance Single submitter
- ABHD14B p.Pro105Arg Uncertain significance Single submitter
- ABHD14B p.Pro105Gln Uncertain significance Single submitter
- ABHD14B p.Pro81Ala Uncertain significance Single submitter
- ABHD14B p.Pro81Ser Uncertain significance Single submitter
- ABHD14B p.Pro83Leu Uncertain significance Single submitter
- ABHD14B p.Val5Met Uncertain significance Single submitter
All ABHD14B variants
Likely benign 3
- p.Ala186= Single submitter
- p.Arg63Gln Single submitter ⚠
- p.Gly27Ser Single submitter
Uncertain significance 29
- p.Ala144Ser Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg179Trp Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg63Trp Single submitter ⚠
- p.Asp160Glu Single submitter ⚠
- p.Gln59Glu Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Ile84Val Single submitter ⚠
- p.Leu155Val Single submitter ⚠
- p.Leu51Pro Single submitter ⚠
- p.Lys141Glu Single submitter
- p.Lys151Glu Single submitter ⚠
- p.Met164Val Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro105Gln Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro81Ala Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Ser44Phe Single submitter ⚠
- p.Ser4Arg Single submitter ⚠
- p.Ser75Cys Single submitter
- p.Thr122Met Single submitter ⚠
- p.Val106Ala Single submitter ⚠
- p.Val5Met Single submitter ⚠