Sugi Variant

Sugi Variant/CLCN4

CLCN4 — 704 ClinVar variants

All ClinVar germline CLCN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 315 flagged for review →

34 Pathogenic · 2 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 27 Conflicting · 68 Benign · 23 Benign/Likely benign · 218 Likely benign · 302 Uncertain significance

Full CLCN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 315

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 13

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

Predictors lean, ClinVar uncertain 185

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 185

Predictors split 115

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

All CLCN4 variants

Pathogenic 34

Pathogenic/Likely pathogenic 2

Likely pathogenic 30

Conflicting classifications of pathogenicity 27

Benign 68

Benign/Likely benign 23

Likely benign 218

Uncertain significance 302

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