Sugi Variant

Sugi Variant/ACO2

ACO2 — 872 ClinVar variants

All ClinVar germline ACO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 360 flagged for review →

51 Pathogenic · 5 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 19 Conflicting · 37 Benign · 7 Benign/Likely benign · 328 Likely benign · 400 Uncertain significance

Full ACO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 360

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 vs ClinVar 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 194

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 194

Predictors split 155

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 155

All ACO2 variants

Pathogenic 51

Pathogenic/Likely pathogenic 5

Likely pathogenic 25

Conflicting classifications of pathogenicity 19

Benign 37

Benign/Likely benign 7

Likely benign 328

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 400

Showing the top 300 by review status; the full set is in the sitemap.