ABHD17A — 51 ClinVar variants
All ClinVar germline ABHD17A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Likely benign · 47 Uncertain significance
Full ABHD17A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD17A p.Ala74Val Uncertain significance Single submitter
- ABHD17A p.Arg174His Uncertain significance Single submitter
- ABHD17A p.Arg202Gly Uncertain significance Single submitter
- ABHD17A p.Arg269His Uncertain significance Single submitter
- ABHD17A p.Cys106Arg Uncertain significance Single submitter
- ABHD17A p.Cys230Tyr Uncertain significance Single submitter
- ABHD17A p.Gln189His Uncertain significance Single submitter
- ABHD17A p.Gln303His Uncertain significance Single submitter
- ABHD17A p.Glu295Gly Uncertain significance Single submitter
- ABHD17A p.Glu82Lys Uncertain significance Single submitter
- ABHD17A p.Glu87Lys Uncertain significance Single submitter
- ABHD17A p.Gly54Ala Uncertain significance Single submitter
- ABHD17A p.His262Asp Uncertain significance Single submitter
- ABHD17A p.Ile184Ser Uncertain significance Single submitter
- ABHD17A p.Leu124Pro Uncertain significance Single submitter
- ABHD17A p.Met127Ile Uncertain significance Single submitter
- ABHD17A p.Thr34Pro Uncertain significance Single submitter
- ABHD17A p.Tyr177Cys Uncertain significance Single submitter
- ABHD17A p.Tyr290Cys Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- ABHD17A p.Ala168Thr Uncertain significance Single submitter
- ABHD17A p.Ala273Thr Uncertain significance Single submitter
- ABHD17A p.Ala273Val Uncertain significance Single submitter
- ABHD17A p.Arg137His Uncertain significance Single submitter
- ABHD17A p.Arg160Thr Uncertain significance Single submitter
- ABHD17A p.Arg174Cys Uncertain significance Single submitter
- ABHD17A p.Arg65His Uncertain significance Single submitter
- ABHD17A p.Arg65Ser Uncertain significance Single submitter
- ABHD17A p.Arg81Gly Uncertain significance Single submitter
- ABHD17A p.Arg98Cys Uncertain significance Single submitter
- ABHD17A p.Asn285Lys Uncertain significance Single submitter
- ABHD17A p.Glu268Asp Uncertain significance Single submitter
- ABHD17A p.Glu268Gln Uncertain significance Single submitter
- ABHD17A p.Glu72Gly Uncertain significance Single submitter
- ABHD17A p.Glu8Lys Uncertain significance Single submitter
- ABHD17A p.Ile166Val Uncertain significance Single submitter
- ABHD17A p.Pro39Arg Uncertain significance Single submitter
- ABHD17A p.Pro45Leu Uncertain significance Single submitter
- ABHD17A p.Ser129Gly Uncertain significance Single submitter
- ABHD17A p.Ser154Leu Uncertain significance Single submitter
- ABHD17A p.Ser291Asn Uncertain significance Single submitter
- ABHD17A p.Thr175Ala Uncertain significance Single submitter
All ABHD17A variants
Likely benign 4
- c.332+244C>T Single submitter
- c.332+289C>A Single submitter
- p.Asn236= Single submitter
- p.Ile132Val Single submitter
Uncertain significance 47
- c.332+230G>A Single submitter
- c.332+239C>G Single submitter
- c.332+243G>A Single submitter
- c.332+261C>G Single submitter
- c.332+261C>T Single submitter
- c.332+306C>T Single submitter
- p.Ala168Thr Single submitter ⚠
- p.Ala273Thr Single submitter ⚠
- p.Ala273Val Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg160Thr Single submitter ⚠
- p.Arg174Cys Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg202Gly Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Arg65Ser Single submitter ⚠
- p.Arg81Gly Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn285Lys Single submitter ⚠
- p.Cys106Arg Single submitter ⚠
- p.Cys230Tyr Single submitter ⚠
- p.Gln189His Single submitter ⚠
- p.Gln303His Single submitter ⚠
- p.Glu268Asp Single submitter ⚠
- p.Glu268Gln Single submitter ⚠
- p.Glu295Gly Single submitter ⚠
- p.Glu72Gly Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Gly54Ala Single submitter ⚠
- p.His262Asp Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile184Ser Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Met127Ile Single submitter ⚠
- p.Pro39Arg Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Ser129Gly Single submitter ⚠
- p.Ser154Leu Single submitter ⚠
- p.Ser291Asn Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr34Pro Single submitter ⚠
- p.Tyr177Cys Single submitter ⚠
- p.Tyr290Cys Single submitter ⚠