Sugi Variant

Sugi Variant/CLCNKA

CLCNKA — 276 ClinVar variants

All ClinVar germline CLCNKA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 5 Conflicting · 71 Benign · 14 Benign/Likely benign · 67 Likely benign · 116 Uncertain significance

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

⚑ Evidence disagreements 113

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 85

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 27

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

All CLCNKA variants

Pathogenic 1

  • p.Trp80Cys No assertion criteria Bartter disease type 4B

Pathogenic/Likely pathogenic 1

  • p.Gly662Val No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 1

Conflicting classifications of pathogenicity 5

Benign 71

Benign/Likely benign 14

Likely benign 67

Uncertain significance 116