ABHD13 — 42 ClinVar variants
All ClinVar germline ABHD13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
2 Likely benign · 40 Uncertain significance
Full ABHD13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD13 p.Arg130Gly Uncertain significance Single submitter
- ABHD13 p.Arg192Cys Uncertain significance Single submitter
- ABHD13 p.Asn299Ser Uncertain significance Single submitter
- ABHD13 p.Asn333Asp Uncertain significance Single submitter
- ABHD13 p.Gln313Leu Uncertain significance Single submitter
- ABHD13 p.Ile102Thr Uncertain significance Single submitter
- ABHD13 p.Ile16Val Uncertain significance Single submitter
- ABHD13 p.Ile292Val Uncertain significance Single submitter
- ABHD13 p.Ile44Val Uncertain significance Single submitter
- ABHD13 p.Ile49Thr Uncertain significance Single submitter
- ABHD13 p.Ile53Leu Uncertain significance Single submitter
- ABHD13 p.Ile89Val Uncertain significance Single submitter
- ABHD13 p.Ile91Val Uncertain significance Single submitter
- ABHD13 p.Leu25Ile Uncertain significance Single submitter
- ABHD13 p.Leu48Phe Uncertain significance Single submitter
- ABHD13 p.Lys316Arg Uncertain significance Single submitter
- ABHD13 p.Lys320Asn Uncertain significance Single submitter
- ABHD13 p.Met177Val Uncertain significance Single submitter
- ABHD13 p.Met235Thr Uncertain significance Single submitter
- ABHD13 p.Met80Thr Uncertain significance Single submitter
- ABHD13 p.Pro112Arg Uncertain significance Single submitter
- ABHD13 p.Pro112Ser Uncertain significance Single submitter
- ABHD13 p.Pro284Ser Uncertain significance Single submitter
- ABHD13 p.Pro32Leu Uncertain significance Single submitter
- ABHD13 p.Thr107Ile Uncertain significance Single submitter
- ABHD13 p.Thr309Ser Uncertain significance Single submitter
- ABHD13 p.Val11Ile Uncertain significance Single submitter
- ABHD13 p.Val274Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ABHD13 p.Arg236His Uncertain significance Single submitter
- ABHD13 p.Arg98His Uncertain significance Single submitter
- ABHD13 p.Gly108Glu Uncertain significance Single submitter
- ABHD13 p.Ile117Val Uncertain significance Single submitter
- ABHD13 p.Ile187Phe Uncertain significance Single submitter
- ABHD13 p.Pro115Ala Uncertain significance Single submitter
- ABHD13 p.Pro132Ser Uncertain significance Single submitter
- ABHD13 p.Pro234Leu Uncertain significance Single submitter
- ABHD13 p.Pro85Leu Uncertain significance Single submitter
- ABHD13 p.Thr309Ile Uncertain significance Single submitter
- ABHD13 p.Tyr166His Uncertain significance Single submitter
- ABHD13 p.Val176Met Uncertain significance Single submitter
All ABHD13 variants
Likely benign 2
- p.Ile51Val Single submitter
- p.Val319Ile Single submitter
Uncertain significance 40
- p.Arg130Gly Single submitter ⚠
- p.Arg192Cys Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn333Asp Single submitter ⚠
- p.Gln313Leu Single submitter ⚠
- p.Gly108Glu Single submitter ⚠
- p.Ile102Thr Single submitter ⚠
- p.Ile117Val Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile187Phe Single submitter ⚠
- p.Ile292Val Single submitter ⚠
- p.Ile44Val Single submitter ⚠
- p.Ile49Thr Single submitter ⚠
- p.Ile53Leu Single submitter ⚠
- p.Ile89Val Single submitter ⚠
- p.Ile91Val Single submitter ⚠
- p.Leu25Ile Single submitter ⚠
- p.Leu48Phe Single submitter ⚠
- p.Lys316Arg Single submitter ⚠
- p.Lys320Asn Single submitter ⚠
- p.Met177Val Single submitter ⚠
- p.Met235Thr Single submitter ⚠
- p.Met80Thr Single submitter ⚠
- p.Pro112Arg Single submitter ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro115Ala Single submitter ⚠
- p.Pro132Ser Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro284Ser Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Thr107Ile Single submitter ⚠
- p.Thr309Ile Single submitter ⚠
- p.Thr309Ser Single submitter ⚠
- p.Tyr166His Single submitter ⚠
- p.Val11Ile Single submitter ⚠
- p.Val176Met Single submitter ⚠
- p.Val274Leu Single submitter ⚠