Sugi Variant

Sugi Variant/ACOX2

ACOX2 — 324 ClinVar variants

All ClinVar germline ACOX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 9 Conflicting · 16 Benign · 2 Benign/Likely benign · 102 Likely benign · 193 Uncertain significance

Full ACOX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 191

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 agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 94

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 93

The independent predictors disagree with each other — read with care.

All ACOX2 variants

Pathogenic 1

  • p.Tyr69Ter No assertion criteria congenital bile acid synthesis defect 6

Likely pathogenic 1

  • p.Arg225Gln Single submitter congenital bile acid synthesis defect 6

Conflicting classifications of pathogenicity 9

Benign 16

Benign/Likely benign 2

  • c.475+18C>T Multiple submitters congenital bile acid synthesis defect 6
  • p.Leu10= Multiple submitters

Likely benign 102

Uncertain significance 193