ABHD17C — 23 ClinVar variants
All ClinVar germline ABHD17C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
23 Uncertain significance
Full ABHD17C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD17C p.Ala115Val Uncertain significance Single submitter
- ABHD17C p.Ala54Thr Uncertain significance Single submitter
- ABHD17C p.Ala60Val Uncertain significance Single submitter
- ABHD17C p.Ala62Gly Uncertain significance Single submitter
- ABHD17C p.Ala86Val Uncertain significance Single submitter
- ABHD17C p.Arg119Pro Uncertain significance Single submitter
- ABHD17C p.Arg293Gln Uncertain significance Single submitter
- ABHD17C p.Asn162Lys Uncertain significance Single submitter
- ABHD17C p.Gly176Asp Uncertain significance Single submitter
- ABHD17C p.Pro37Leu Uncertain significance Single submitter
- ABHD17C p.Pro47Ala Uncertain significance Single submitter
- ABHD17C p.Pro59Ser Uncertain significance Single submitter
- ABHD17C p.Pro73Ser Uncertain significance Single submitter
- ABHD17C p.Ser88Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ABHD17C p.Ala185Ser Uncertain significance Single submitter
- ABHD17C p.Ala193Glu Uncertain significance Single submitter
- ABHD17C p.Asp259Asn Uncertain significance Single submitter
- ABHD17C p.Glu108Gln Uncertain significance Single submitter
- ABHD17C p.Gly121Asp Uncertain significance Single submitter
- ABHD17C p.Gly85Cys Uncertain significance Single submitter
- ABHD17C p.Ser27Thr Uncertain significance Single submitter
- ABHD17C p.Thr43Lys Uncertain significance Single submitter
- ABHD17C p.Val200Met Uncertain significance Single submitter
All ABHD17C variants
Uncertain significance 23
- p.Ala115Val Single submitter ⚠
- p.Ala185Ser Single submitter ⚠
- p.Ala193Glu Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Ala60Val Single submitter ⚠
- p.Ala62Gly Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg119Pro Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Asn162Lys Single submitter ⚠
- p.Asp259Asn Single submitter ⚠
- p.Glu108Gln Single submitter ⚠
- p.Gly121Asp Single submitter ⚠
- p.Gly176Asp Single submitter ⚠
- p.Gly85Cys Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro47Ala Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Ser27Thr Single submitter ⚠
- p.Ser88Ile Single submitter ⚠
- p.Thr43Lys Single submitter ⚠
- p.Val200Met Single submitter ⚠