Sugi Variant

Sugi Variant/CLDN9

CLDN9 — 72 ClinVar variants

All ClinVar germline CLDN9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Benign/Likely benign · 10 Likely benign · 56 Uncertain significance

Full CLDN9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 59

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 lean, ClinVar uncertain 26

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

Predictors split 32

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

All CLDN9 variants

Pathogenic 1

  • p.Leu29fs No assertion criteria hearing loss, autosomal recessive 116

Pathogenic/Likely pathogenic 1

  • p.Ile124dup Single submitter hearing loss, autosomal recessive 116

Likely pathogenic 1

  • p.Arg116Cys Single submitter hearing loss, autosomal recessive 116 ⚠

Conflicting classifications of pathogenicity 1

  • p.Trp168fs Single submitter hearing loss, autosomal recessive 116

Benign 1

Benign/Likely benign 1

Likely benign 10

Uncertain significance 56