Sugi Variant

Sugi Variant/ACBD5

ACBD5 — 430 ClinVar variants

All ClinVar germline ACBD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 8 Conflicting · 77 Benign · 142 Likely benign · 178 Uncertain significance

Full ACBD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 166

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 6

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

Predictors lean, ClinVar uncertain 117

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

Predictors split 43

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

All ACBD5 variants

Pathogenic 14

Pathogenic/Likely pathogenic 1

Likely pathogenic 10

Conflicting classifications of pathogenicity 8

Benign 77

Likely benign 142

Uncertain significance 178