Sugi Variant

Sugi Variant/CLCN6

CLCN6 — 992 ClinVar variants

All ClinVar germline CLCN6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 467 flagged for review →

2 Pathogenic · 4 Conflicting · 38 Benign · 3 Benign/Likely benign · 410 Likely benign · 535 Uncertain significance

Full CLCN6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 467

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 2

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

Predictors lean, ClinVar uncertain 247

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 247

Predictors split 217

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 217

All CLCN6 variants

Pathogenic 2

  • p.Tyr553Cys Multiple submitters neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities ⚠
  • p.Glu200Ala No assertion criteria neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities ⚠

Conflicting classifications of pathogenicity 4

Benign 38

Benign/Likely benign 3

Likely benign 410

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

Uncertain significance 535

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