ABHD12B — 66 ClinVar variants
All ClinVar germline ABHD12B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Benign · 7 Likely benign · 58 Uncertain significance
Full ABHD12B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD12B p.Ala10Thr Uncertain significance Single submitter
- ABHD12B p.Ala133Thr Uncertain significance Single submitter
- ABHD12B p.Ala195Thr Uncertain significance Single submitter
- ABHD12B p.Ala24Asp Uncertain significance Single submitter
- ABHD12B p.Ala3Thr Uncertain significance Single submitter
- ABHD12B p.Ala9Thr Uncertain significance Single submitter
- ABHD12B p.Arg136Cys Uncertain significance Single submitter
- ABHD12B p.Arg157Thr Uncertain significance Single submitter
- ABHD12B p.Arg263Gln Uncertain significance Single submitter
- ABHD12B p.Asn255Ser Uncertain significance Single submitter
- ABHD12B p.Asn264Ile Uncertain significance Single submitter
- ABHD12B p.Asn321Ser Uncertain significance Single submitter
- ABHD12B p.Asn325Ile Uncertain significance Single submitter
- ABHD12B p.Asp175Glu Uncertain significance Single submitter
- ABHD12B p.Asp279His Uncertain significance Single submitter
- ABHD12B p.Gly120Val Uncertain significance Single submitter
- ABHD12B p.Gly190Arg Uncertain significance Single submitter
- ABHD12B p.His113Asn Uncertain significance Single submitter
- ABHD12B p.His63Tyr Uncertain significance Single submitter
- ABHD12B p.Ile265Thr Uncertain significance Single submitter
- ABHD12B p.Lys185Glu Uncertain significance Single submitter
- ABHD12B p.Lys314Glu Uncertain significance Single submitter
- ABHD12B p.Lys326Glu Uncertain significance Single submitter
- ABHD12B p.Lys58Glu Uncertain significance Single submitter
- ABHD12B p.Met331Ile Uncertain significance Single submitter
- ABHD12B p.Met71Thr Uncertain significance Single submitter
- ABHD12B p.Phe283Ser Uncertain significance Single submitter
- ABHD12B p.Pro236Gln Uncertain significance Single submitter
- ABHD12B p.Pro38Ala Uncertain significance Single submitter
- ABHD12B p.Ser206Gly Uncertain significance Single submitter
- ABHD12B p.Thr192Ile Uncertain significance Single submitter
- ABHD12B p.Thr193Met Uncertain significance Single submitter
- ABHD12B p.Thr306Ala Uncertain significance Single submitter
- ABHD12B p.Thr352Asn Uncertain significance Single submitter
- ABHD12B p.Trp112Arg Uncertain significance Single submitter
- ABHD12B p.Trp214Cys Uncertain significance Single submitter
- ABHD12B p.Trp250Leu Uncertain significance Single submitter
- ABHD12B p.Tyr316Cys Uncertain significance Single submitter
- ABHD12B p.Tyr52Cys Uncertain significance Single submitter
- ABHD12B p.Tyr74Asn Uncertain significance Single submitter
- ABHD12B p.Tyr74His Uncertain significance Single submitter
- ABHD12B p.Val103Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- ABHD12B p.Arg136Pro Uncertain significance Single submitter
- ABHD12B p.Ile141Thr Uncertain significance Single submitter
- ABHD12B p.Leu145His Uncertain significance Single submitter
- ABHD12B p.Leu299Phe Uncertain significance Single submitter
- ABHD12B p.Lys228Asn Uncertain significance Single submitter
- ABHD12B p.Phe179Cys Uncertain significance Single submitter
- ABHD12B p.Phe179Ser Uncertain significance Single submitter
- ABHD12B p.Pro105Leu Uncertain significance Single submitter
- ABHD12B p.Pro210Leu Uncertain significance Single submitter
- ABHD12B p.Ser346Arg Uncertain significance Single submitter
- ABHD12B p.Thr183Ile Uncertain significance Single submitter
- ABHD12B p.Val174Ala Uncertain significance Single submitter
- ABHD12B p.Val307Leu Likely benign Single submitter
- ABHD12B p.Val329Phe Uncertain significance Single submitter
All ABHD12B variants
Benign 1
- c.486+1G>T Single submitter
Likely benign 7
- p.Arg320Cys Single submitter
- p.Cys128Arg Single submitter
- p.Leu44= Single submitter
- p.Met43Thr Single submitter
- p.Pro12Leu Single submitter
- p.Thr271= Single submitter
- p.Val307Leu Single submitter ⚠
Uncertain significance 58
- p.Ala10Thr Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Ala195Thr Single submitter ⚠
- p.Ala24Asp Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg136Pro Single submitter ⚠
- p.Arg157Thr Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Asn255Ser Single submitter ⚠
- p.Asn264Ile Single submitter ⚠
- p.Asn321Ser Single submitter ⚠
- p.Asn325Ile Single submitter ⚠
- p.Asp175Glu Single submitter ⚠
- p.Asp279His Single submitter ⚠
- p.Gly120Val Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.His113Asn Single submitter ⚠
- p.His63Tyr Single submitter ⚠
- p.Ile141Thr Single submitter ⚠
- p.Ile265Thr Single submitter ⚠
- p.Leu145His Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Lys185Glu Single submitter ⚠
- p.Lys228Asn Single submitter ⚠
- p.Lys314Glu Single submitter ⚠
- p.Lys326Glu Single submitter ⚠
- p.Lys58Glu Single submitter ⚠
- p.Met331Ile Single submitter ⚠
- p.Met71Thr Single submitter ⚠
- p.Phe179Cys Single submitter ⚠
- p.Phe179Ser Single submitter ⚠
- p.Phe283Ser Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro116Ala Single submitter
- p.Pro210Leu Single submitter ⚠
- p.Pro236Gln Single submitter ⚠
- p.Pro38Ala Single submitter ⚠
- p.Ser182Ala Single submitter
- p.Ser206Gly Single submitter ⚠
- p.Ser346Arg Single submitter ⚠
- p.Thr183Ile Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr193Met Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr352Asn Single submitter ⚠
- p.Trp112Arg Single submitter ⚠
- p.Trp214Cys Single submitter ⚠
- p.Trp250Leu Single submitter ⚠
- p.Tyr144fs Single submitter
- p.Tyr316Cys Single submitter ⚠
- p.Tyr52Cys Single submitter ⚠
- p.Tyr74Asn Single submitter ⚠
- p.Tyr74His Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val174Ala Single submitter ⚠
- p.Val329Phe Single submitter ⚠