Sugi Variant

Sugi Variant/COL6A2

COL6A2 — 2251 ClinVar variants

All ClinVar germline COL6A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 858 flagged for review →

138 Pathogenic · 37 Pathogenic/Likely pathogenic · 81 Likely pathogenic · 350 Conflicting · 138 Benign · 65 Benign/Likely benign · 637 Likely benign · 805 Uncertain significance

Full COL6A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 858

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 1

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

Predictors agree, ClinVar conflicts 104

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

Predictors lean, ClinVar uncertain 365

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 365

Predictors split 388

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 388

All COL6A2 variants

Pathogenic 138

Pathogenic/Likely pathogenic 37

Likely pathogenic 81

Conflicting classifications of pathogenicity 350

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

Benign 138

Benign/Likely benign 65

Likely benign 637

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

Uncertain significance 805

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