ABHD6 — 49 ClinVar variants
All ClinVar germline ABHD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 1 Likely benign · 47 Uncertain significance
Full ABHD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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.
- ABHD6 p.Ala12Val Uncertain significance Single submitter
- ABHD6 p.Ala158Asp Uncertain significance Single submitter
- ABHD6 p.Ala196Thr Uncertain significance Single submitter
- ABHD6 p.Arg51His Uncertain significance Single submitter
- ABHD6 p.Arg65Trp Uncertain significance Single submitter
- ABHD6 p.Asn241Lys Uncertain significance Single submitter
- ABHD6 p.Asn333Lys Uncertain significance Single submitter
- ABHD6 p.Asn7His Uncertain significance Single submitter
- ABHD6 p.Asp181Asn Uncertain significance Single submitter
- ABHD6 p.Asp331Gly Uncertain significance Single submitter
- ABHD6 p.Asp331His Uncertain significance Single submitter
- ABHD6 p.Asp4Gly Uncertain significance Single submitter
- ABHD6 p.Cys304Arg Uncertain significance Single submitter
- ABHD6 p.Gln192His Uncertain significance Single submitter
- ABHD6 p.Glu198Lys Uncertain significance Single submitter
- ABHD6 p.Gly66Ser Uncertain significance Single submitter
- ABHD6 p.His108Arg Uncertain significance Single submitter
- ABHD6 p.Ile203Val Uncertain significance Single submitter
- ABHD6 p.Ile20Val Uncertain significance Single submitter
- ABHD6 p.Ile293Val Uncertain significance Single submitter
- ABHD6 p.Ile35Leu Uncertain significance Single submitter
- ABHD6 p.Lys318Arg Uncertain significance Single submitter
- ABHD6 p.Lys96Glu Uncertain significance Single submitter
- ABHD6 p.Met310Thr Uncertain significance Single submitter
- ABHD6 p.Met48Leu Uncertain significance Single submitter
- ABHD6 p.Met76Leu Uncertain significance Single submitter
- ABHD6 p.Met8Leu Uncertain significance Single submitter
- ABHD6 p.Pro95Leu Uncertain significance Single submitter
- ABHD6 p.Thr15Met Uncertain significance Single submitter
- ABHD6 p.Thr15Pro Uncertain significance Single submitter
- ABHD6 p.Val103Met Uncertain significance Single submitter
- ABHD6 p.Val235Ala Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ABHD6 p.Ala82Asp Uncertain significance Single submitter
- ABHD6 p.Arg221Cys Uncertain significance Single submitter
- ABHD6 p.Arg236His Uncertain significance Single submitter
- ABHD6 p.Arg244Gln Uncertain significance Single submitter
- ABHD6 p.Arg51Leu Uncertain significance Single submitter
- ABHD6 p.Gly193Arg Uncertain significance Single submitter
- ABHD6 p.Lys265Arg Uncertain significance Single submitter
- ABHD6 p.Lys267Glu Uncertain significance Single submitter
- ABHD6 p.Met149Val Uncertain significance Single submitter
- ABHD6 p.Met263Thr Uncertain significance Single submitter
- ABHD6 p.Pro68Ser Uncertain significance Single submitter
- ABHD6 p.Ser218Tyr Uncertain significance Single submitter
- ABHD6 p.Ser252Arg Uncertain significance Single submitter
- ABHD6 p.Val283Met Uncertain significance Single submitter
- ABHD6 p.Val298Leu Uncertain significance Single submitter
All ABHD6 variants
Benign 1
- c.681+5C>T Single submitter
Likely benign 1
- p.Ile321Val Single submitter
Uncertain significance 47
- p.Ala12Val Single submitter ⚠
- p.Ala158Asp Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala82Asp Single submitter ⚠
- p.Arg221Cys Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg244Gln Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg51Leu Single submitter ⚠
- p.Arg65Trp Single submitter ⚠
- p.Asn241Lys Single submitter ⚠
- p.Asn333Lys Single submitter ⚠
- p.Asn7His Single submitter ⚠
- p.Asp181Asn Single submitter ⚠
- p.Asp331Gly Single submitter ⚠
- p.Asp331His Single submitter ⚠
- p.Asp4Gly Single submitter ⚠
- p.Cys304Arg Single submitter ⚠
- p.Gln192His Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Gly193Arg Single submitter ⚠
- p.Gly66Ser Single submitter ⚠
- p.His108Arg Single submitter ⚠
- p.Ile203Val Single submitter ⚠
- p.Ile20Val Single submitter ⚠
- p.Ile293Val Single submitter ⚠
- p.Ile35Leu Single submitter ⚠
- p.Lys265Arg Single submitter ⚠
- p.Lys267Glu Single submitter ⚠
- p.Lys318Arg Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Met149Val Single submitter ⚠
- p.Met263Thr Single submitter ⚠
- p.Met310Thr Single submitter ⚠
- p.Met48Leu Single submitter ⚠
- p.Met76Leu Single submitter ⚠
- p.Met8Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Ser218Tyr Single submitter ⚠
- p.Ser252Arg Single submitter ⚠
- p.Thr15Met Single submitter ⚠
- p.Thr15Pro Single submitter ⚠
- p.Val103Met Single submitter ⚠
- p.Val235Ala Single submitter ⚠
- p.Val283Met Single submitter ⚠
- p.Val298Leu Single submitter ⚠