HACD2 — 21 ClinVar variants
All ClinVar germline HACD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely benign · 20 Uncertain significance
Full HACD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HACD2 p.Ala20Ser Uncertain significance Single submitter
- HACD2 p.Ala3Ser Uncertain significance Single submitter
- HACD2 p.Ala3Val Uncertain significance Single submitter
- HACD2 p.Ala6Val Uncertain significance Single submitter
- HACD2 p.Ala96Ser Uncertain significance Single submitter
- HACD2 p.Ala9Thr Uncertain significance Single submitter
- HACD2 p.Arg240Lys Uncertain significance Single submitter
- HACD2 p.Arg62Gln Uncertain significance Single submitter
- HACD2 p.His250Tyr Uncertain significance Single submitter
- HACD2 p.Ile139Val Uncertain significance Single submitter
- HACD2 p.Ile77Val Uncertain significance Single submitter
- HACD2 p.Ile97Val Uncertain significance Single submitter
- HACD2 p.Ser69Gly Uncertain significance Single submitter
- HACD2 p.Thr247Asn Uncertain significance Single submitter
- HACD2 p.Tyr75Ser Uncertain significance Single submitter
- HACD2 p.Val125Ile Uncertain significance Single submitter
- HACD2 p.Val4Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All HACD2 variants
Likely benign 1
- p.Tyr215His Single submitter
Uncertain significance 20
- p.Ala20Ser Single submitter ⚠
- p.Ala3Ser Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala96Ser Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg240Lys Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Glu78Gly Single submitter ⚠
- p.Gly18Cys Single submitter ⚠
- p.Gly33Asp Single submitter ⚠
- p.His250Tyr Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile77Val Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Ser69Gly Single submitter ⚠
- p.Thr247Asn Single submitter ⚠
- p.Tyr75Ser Single submitter ⚠
- p.Val125Ile Single submitter ⚠
- p.Val4Leu Single submitter ⚠