Sugi Variant

Sugi Variant/PACS2

PACS2 — 1258 ClinVar variants

All ClinVar germline PACS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 423 flagged for review →

1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 62 Conflicting · 122 Benign · 48 Benign/Likely benign · 598 Likely benign · 425 Uncertain significance

Full PACS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 423

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 38

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

Predictors lean, ClinVar uncertain 255

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 255

Predictors split 130

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

All PACS2 variants

Pathogenic/Likely pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 62

Benign 122

Benign/Likely benign 48

Likely benign 598

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

Uncertain significance 425

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