Sugi Variant

Sugi Variant/ABCG5

ABCG5 — 868 ClinVar variants

All ClinVar germline ABCG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 434 flagged for review →

36 Pathogenic · 8 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 63 Conflicting · 35 Benign · 13 Benign/Likely benign · 249 Likely benign · 441 Uncertain significance

Full ABCG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 434

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 2

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

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 233

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 233

Predictors split 180

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 180

All ABCG5 variants

Pathogenic 36

Pathogenic/Likely pathogenic 8

Likely pathogenic 23

Conflicting classifications of pathogenicity 63

Benign 35

Benign/Likely benign 13

Likely benign 249

Uncertain significance 441

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