ABHD17B — 21 ClinVar variants
All ClinVar germline ABHD17B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
21 Uncertain significance
Full ABHD17B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 14
The independent predictors disagree with each other — read with care.
- ABHD17B p.Ala144Thr Uncertain significance Single submitter
- ABHD17B p.Ala186Gly Uncertain significance Single submitter
- ABHD17B p.Ala213Ser Uncertain significance Single submitter
- ABHD17B p.Ala80Gly Uncertain significance Single submitter
- ABHD17B p.Arg249His Uncertain significance Single submitter
- ABHD17B p.Arg45Cys Uncertain significance Single submitter
- ABHD17B p.Asn89Asp Uncertain significance Single submitter
- ABHD17B p.His49Tyr Uncertain significance Single submitter
- ABHD17B p.Ile122Met Uncertain significance Single submitter
- ABHD17B p.Lys222Glu Uncertain significance Single submitter
- ABHD17B p.Ser116Ala Uncertain significance Single submitter
- ABHD17B p.Ser116Pro Uncertain significance Single submitter
- ABHD17B p.Ser87Leu Uncertain significance Single submitter
- ABHD17B p.Tyr209Cys Uncertain significance Single submitter
All ABHD17B variants
Uncertain significance 21
- p.Ala144Thr Single submitter ⚠
- p.Ala186Gly Single submitter ⚠
- p.Ala213Ser Single submitter ⚠
- p.Ala80Gly Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Arg45Cys Single submitter ⚠
- p.Asn89Asp Single submitter ⚠
- p.Gln251Arg Single submitter ⚠
- p.Gly292Ala Single submitter
- p.His289Asp Single submitter
- p.His49Tyr Single submitter ⚠
- p.Ile122Met Single submitter ⚠
- p.Ile122Val Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Lys222Glu Single submitter ⚠
- p.Ser116Ala Single submitter ⚠
- p.Ser116Pro Single submitter ⚠
- p.Ser87Leu Single submitter ⚠
- p.Thr93Ser Single submitter ⚠
- p.Tyr209Cys Single submitter ⚠
- p.Val286Met Single submitter