Sugi Variant

Sugi Variant/CLDN5

CLDN5 — 45 ClinVar variants

All ClinVar germline CLDN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 2 Benign · 7 Likely benign · 30 Uncertain significance

Full CLDN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 19

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 lean, ClinVar uncertain 11

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

Predictors split 8

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

All CLDN5 variants

Pathogenic 3

  • p.Gly60Arg Multiple submitters Inborn genetic diseases
  • p.Val41Met Multiple submitters neurodevelopmental disorder
  • p.Thr59Ile Single submitter CLDN5 deficiency

Likely pathogenic 3

  • p.Gln63Lys Single submitter CLDN5-related hemiplegia, microcephaly and brain calcification
  • p.Ser58Arg Single submitter
  • p.Thr59_Gly60insThr Single submitter CLDN5-related neurodevelopmental disorder

Benign 2

Likely benign 7

Uncertain significance 30