Sugi Variant

Sugi Variant/COL4A6

COL4A6 — 711 ClinVar variants

All ClinVar germline COL4A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 335 flagged for review →

5 Likely pathogenic · 33 Conflicting · 87 Benign · 17 Benign/Likely benign · 244 Likely benign · 325 Uncertain significance

Full COL4A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 335

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 20

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

Predictors lean, ClinVar uncertain 180

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 180

Predictors split 133

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

All COL4A6 variants

Likely pathogenic 5

Conflicting classifications of pathogenicity 33

Benign 87

Benign/Likely benign 17

Likely benign 244

Uncertain significance 325

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