HACD3 — 53 ClinVar variants
All ClinVar germline HACD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Likely benign · 52 Uncertain significance
Full HACD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HACD3 p.Arg127His Uncertain significance Single submitter
- HACD3 p.Arg344Cys Uncertain significance Single submitter
- HACD3 p.Arg351Lys Uncertain significance Single submitter
- HACD3 p.Arg352Gln Uncertain significance Single submitter
- HACD3 p.Asn129Ser Uncertain significance Single submitter
- HACD3 p.Asn305Ser Uncertain significance Single submitter
- HACD3 p.Asp268Asn Uncertain significance Single submitter
- HACD3 p.Gln239Arg Uncertain significance Single submitter
- HACD3 p.Gln45Arg Uncertain significance Single submitter
- HACD3 p.Glu18Asp Uncertain significance Single submitter
- HACD3 p.Gly137Val Uncertain significance Single submitter
- HACD3 p.His41Arg Uncertain significance Single submitter
- HACD3 p.Ile174Val Uncertain significance Single submitter
- HACD3 p.Ile301Leu Uncertain significance Single submitter
- HACD3 p.Ile303Thr Uncertain significance Single submitter
- HACD3 p.Ile333Met Uncertain significance Single submitter
- HACD3 p.Ile333Thr Uncertain significance Single submitter
- HACD3 p.Ile341Met Uncertain significance Single submitter
- HACD3 p.Leu128Ile Uncertain significance Single submitter
- HACD3 p.Leu93Pro Uncertain significance Single submitter
- HACD3 p.Lys147Arg Uncertain significance Single submitter
- HACD3 p.Lys72Arg Uncertain significance Single submitter
- HACD3 p.Met196Thr Uncertain significance Single submitter
- HACD3 p.Met235Val Uncertain significance Single submitter
- HACD3 p.Met263Val Uncertain significance Single submitter
- HACD3 p.Pro317Ser Uncertain significance Single submitter
- HACD3 p.Ser135Arg Uncertain significance Single submitter
- HACD3 p.Ser296Leu Uncertain significance Single submitter
- HACD3 p.Thr202Ile Uncertain significance Single submitter
- HACD3 p.Thr211Met Uncertain significance Single submitter
- HACD3 p.Thr94Ile Uncertain significance Single submitter
- HACD3 p.Trp251Arg Uncertain significance Single submitter
- HACD3 p.Tyr262Cys Uncertain significance Single submitter
- HACD3 p.Tyr340His Uncertain significance Single submitter
- HACD3 p.Val273Met Uncertain significance Single submitter
- HACD3 p.Val39Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- HACD3 p.Ala116Gly Uncertain significance Single submitter
- HACD3 p.Ala116Val Uncertain significance Single submitter
- HACD3 p.Arg109His Uncertain significance Single submitter
- HACD3 p.Arg99Gln Uncertain significance Single submitter
- HACD3 p.Glu113Val Uncertain significance Single submitter
- HACD3 p.Glu119Lys Uncertain significance Single submitter
- HACD3 p.Leu131Phe Uncertain significance Single submitter
- HACD3 p.Leu281Pro Uncertain significance Single submitter
- HACD3 p.Met118Ile Uncertain significance Single submitter
- HACD3 p.Met334Lys Uncertain significance Single submitter
- HACD3 p.Trp163Cys Uncertain significance Single submitter
- HACD3 p.Tyr347Cys Uncertain significance Single submitter
- HACD3 p.Val214Gly Uncertain significance Single submitter
- HACD3 p.Val244Ala Uncertain significance Single submitter
- HACD3 p.Val244Phe Uncertain significance Single submitter
All HACD3 variants
Likely benign 1
- p.Val199Ala Single submitter
Uncertain significance 52
- p.Ala116Gly Single submitter ⚠
- p.Ala116Val Single submitter ⚠
- p.Arg109His Single submitter ⚠
- p.Arg127His Single submitter ⚠
- p.Arg344Cys Single submitter ⚠
- p.Arg351Lys Single submitter ⚠
- p.Arg352Gln Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn129Ser Single submitter ⚠
- p.Asn305Ser Single submitter ⚠
- p.Asp268Asn Single submitter ⚠
- p.Gln239Arg Single submitter ⚠
- p.Gln45Arg Single submitter ⚠
- p.Glu113Val Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Glu18Asp Single submitter ⚠
- p.Gly137Val Single submitter ⚠
- p.His41Arg Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Ile301Leu Single submitter ⚠
- p.Ile303Thr Single submitter ⚠
- p.Ile333Met Single submitter ⚠
- p.Ile333Thr Single submitter ⚠
- p.Ile341Met Single submitter ⚠
- p.Leu128Ile Single submitter ⚠
- p.Leu131Phe Single submitter ⚠
- p.Leu215Arg Single submitter
- p.Leu281Pro Single submitter ⚠
- p.Leu93Pro Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Lys72Arg Single submitter ⚠
- p.Met118Ile Single submitter ⚠
- p.Met196Thr Single submitter ⚠
- p.Met235Val Single submitter ⚠
- p.Met263Val Single submitter ⚠
- p.Met334Lys Single submitter ⚠
- p.Pro317Ser Single submitter ⚠
- p.Ser135Arg Single submitter ⚠
- p.Ser296Leu Single submitter ⚠
- p.Thr202Ile Single submitter ⚠
- p.Thr211Met Single submitter ⚠
- p.Thr94Ile Single submitter ⚠
- p.Trp163Cys Single submitter ⚠
- p.Trp251Arg Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Tyr340His Single submitter ⚠
- p.Tyr347Cys Single submitter ⚠
- p.Val214Gly Single submitter ⚠
- p.Val244Ala Single submitter ⚠
- p.Val244Phe Single submitter ⚠
- p.Val273Met Single submitter ⚠
- p.Val39Met Single submitter ⚠