Sugi Variant

Sugi Variant/ABCG8

ABCG8 — 969 ClinVar variants

All ClinVar germline ABCG8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 467 flagged for review →

33 Pathogenic · 9 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 88 Conflicting · 62 Benign · 17 Benign/Likely benign · 261 Likely benign · 479 Uncertain significance

Full ABCG8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 467

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 16

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

Predictors lean, ClinVar uncertain 234

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 234

Predictors split 215

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 215

All ABCG8 variants

Pathogenic 33

Pathogenic/Likely pathogenic 9

Likely pathogenic 20

Conflicting classifications of pathogenicity 88

Benign 62

Benign/Likely benign 17

Likely benign 261

Uncertain significance 479

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