Sugi Variant

Sugi Variant/CLDN1

CLDN1 — 110 ClinVar variants

All ClinVar germline CLDN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 4 Conflicting · 17 Benign · 1 Benign/Likely benign · 24 Likely benign · 56 Uncertain significance

Full CLDN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 51

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 2

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

Predictors lean, ClinVar uncertain 31

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

Predictors split 18

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

All CLDN1 variants

Pathogenic 5

  • p.Trp18Ter Single submitter
  • p.Tyr47Ter Single submitter neonatal ichthyosis-sclerosing cholangitis syndrome
  • p.Trp30Ter No assertion criteria neonatal ichthyosis-sclerosing cholangitis syndrome
  • p.Val120fs No assertion criteria neonatal ichthyosis-sclerosing cholangitis syndrome
  • p.Val66_Phe67insTer No assertion criteria neonatal ichthyosis-sclerosing cholangitis syndrome

Pathogenic/Likely pathogenic 1

Likely pathogenic 2

  • p.Gln7Ter Single submitter neonatal ichthyosis-sclerosing cholangitis syndrome
  • p.Pro154delinsLeuTer Single submitter neonatal ichthyosis-sclerosing cholangitis syndrome

Conflicting classifications of pathogenicity 4

Benign 17

Benign/Likely benign 1

Likely benign 24

Uncertain significance 56