Sugi Variant

Sugi Variant/ATP7B

ATP7B — 3409 ClinVar variants

All ClinVar germline ATP7B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1285 flagged for review →

277 Pathogenic · 204 Pathogenic/Likely pathogenic · 287 Likely pathogenic · 303 Conflicting · 63 Benign · 21 Benign/Likely benign · 1016 Likely benign · 1238 Uncertain significance

Full ATP7B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1285

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 22

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

Predictors agree, ClinVar conflicts 129

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

Predictors lean, ClinVar uncertain 618

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 618

Predictors split 516

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 516

All ATP7B variants

Pathogenic 277

Pathogenic/Likely pathogenic 204

Likely pathogenic 287

Conflicting classifications of pathogenicity 303

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

Benign 63

Benign/Likely benign 21

Likely benign 1016

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

Uncertain significance 1238

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