Sugi Variant

Sugi Variant/CLCN7

CLCN7 — 1417 ClinVar variants

All ClinVar germline CLCN7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 448 flagged for review →

32 Pathogenic · 10 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 84 Conflicting · 107 Benign · 27 Benign/Likely benign · 571 Likely benign · 535 Uncertain significance

Full CLCN7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 448

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 5

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

Predictors agree, ClinVar conflicts 34

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

Predictors lean, ClinVar uncertain 294

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 294

Predictors split 115

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

All CLCN7 variants

Pathogenic 32

Pathogenic/Likely pathogenic 10

  • c.739-18G>A Multiple submitters CLCN7-related disorder
  • p.Arg286Gln Multiple submitters autosomal recessive osteopetrosis 4
  • p.Arg286Trp Multiple submitters autosomal dominant osteopetrosis 2
  • p.Arg526Trp Multiple submitters autosomal dominant osteopetrosis 2
  • p.Arg55Ter Multiple submitters CLCN7-related disorder
  • p.Arg762Trp Multiple submitters CLCN7-related disorder
  • p.Pro249Arg Multiple submitters
  • p.Ser290Phe Multiple submitters CLCN7-related disorder
  • p.Trp398Ter Multiple submitters autosomal dominant osteopetrosis 2
  • p.Tyr99Cys Multiple submitters CLCN7-related disorder

Likely pathogenic 51

Conflicting classifications of pathogenicity 84

Benign 107

Benign/Likely benign 27

Likely benign 571

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.