ABHD14A — 40 ClinVar variants
All ClinVar germline ABHD14A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Likely benign · 38 Uncertain significance
Full ABHD14A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD14A p.Ala126Pro Uncertain significance Single submitter
- ABHD14A p.Ala195Pro Uncertain significance Single submitter
- ABHD14A p.Ala226Val Uncertain significance Single submitter
- ABHD14A p.Ala250Thr Uncertain significance Single submitter
- ABHD14A p.Arg149Gln Uncertain significance Single submitter
- ABHD14A p.Arg227Gln Uncertain significance Single submitter
- ABHD14A p.Arg231Trp Uncertain significance Single submitter
- ABHD14A p.Arg234His Uncertain significance Single submitter
- ABHD14A p.Arg245Pro Uncertain significance Single submitter
- ABHD14A p.Asn238Ser Uncertain significance Single submitter
- ABHD14A p.Asn67Ser Uncertain significance Single submitter
- ABHD14A p.Asn78Lys Uncertain significance Single submitter
- ABHD14A p.Asn90Lys Uncertain significance Single submitter
- ABHD14A p.Cys6Gly Uncertain significance Single submitter
- ABHD14A p.Gln27Glu Uncertain significance Single submitter
- ABHD14A p.Glu111Asp Uncertain significance Single submitter
- ABHD14A p.Gly3Trp Uncertain significance Single submitter
- ABHD14A p.Gly54Asp Uncertain significance Single submitter
- ABHD14A p.His249Tyr Uncertain significance Single submitter
- ABHD14A p.Leu113Val Uncertain significance Single submitter
- ABHD14A p.Leu18Pro Uncertain significance Single submitter
- ABHD14A p.Leu21Trp Uncertain significance Single submitter
- ABHD14A p.Leu42Val Uncertain significance Single submitter
- ABHD14A p.Met45Val Uncertain significance Single submitter
- ABHD14A p.Phe10Cys Uncertain significance Single submitter
- ABHD14A p.Pro170His Uncertain significance Single submitter
- ABHD14A p.Pro23Arg Uncertain significance Single submitter
- ABHD14A p.Pro55His Uncertain significance Single submitter
- ABHD14A p.Ser171Leu Uncertain significance Single submitter
- ABHD14A p.Ser33Phe Uncertain significance Single submitter
- ABHD14A p.Tyr252Cys Uncertain significance Single submitter
- ABHD14A p.Val168Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All ABHD14A variants
Likely benign 2
- p.Ala156Val Single submitter
- p.Arg158Gln Single submitter
Uncertain significance 38
- p.Ala126Pro Single submitter ⚠
- p.Ala195Pro Single submitter ⚠
- p.Ala195Thr Single submitter
- p.Ala226Val Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg245Pro Single submitter ⚠
- p.Asn238Ser Single submitter ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asn78Lys Single submitter ⚠
- p.Asn90Lys Single submitter ⚠
- p.Cys6Gly Single submitter ⚠
- p.Gln27Glu Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Gly39Arg Single submitter ⚠
- p.Gly3Trp Single submitter ⚠
- p.Gly54Asp Single submitter ⚠
- p.His249Tyr Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu18Pro Single submitter ⚠
- p.Leu21Trp Single submitter ⚠
- p.Leu42Val Single submitter ⚠
- p.Met45Val Single submitter ⚠
- p.Phe10Cys Single submitter ⚠
- p.Pro170His Single submitter ⚠
- p.Pro23Arg Single submitter ⚠
- p.Pro55His Single submitter ⚠
- p.Ser171Leu Single submitter ⚠
- p.Ser33Phe Single submitter ⚠
- p.Tyr252Cys Single submitter ⚠
- p.Val127Met Single submitter ⚠
- p.Val168Met Single submitter ⚠
- p.Val97Ala Single submitter