Sugi Variant

Sugi Variant/EXPH5

EXPH5 — 434 ClinVar variants

All ClinVar germline EXPH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 13 Conflicting · 46 Benign · 11 Benign/Likely benign · 66 Likely benign · 281 Uncertain significance

Full EXPH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 288

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 11

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

Predictors lean, ClinVar uncertain 262

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 262

Predictors split 15

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

All EXPH5 variants

Pathogenic 11

  • p.Pro1929fs Multiple submitters epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Cys1214fs Single submitter Inborn genetic diseases
  • p.Thr100fs Single submitter
  • p.Thr286fs Single submitter
  • p.His848fs No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Leu1217Ter No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Phe466fs No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Pro966fs No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Ser1306Ter No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Ser750Ter No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Thr650fs No assertion criteria epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Pathogenic/Likely pathogenic 1

  • p.Asn314fs Multiple submitters epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Likely pathogenic 5

  • p.Glu30fs Single submitter epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Leu215Ter Single submitter epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Lys1141fs Single submitter epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Met1495fs Single submitter epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • p.Ser320Ter Single submitter EXPH5-related disorder

Conflicting classifications of pathogenicity 13

Benign 46

Benign/Likely benign 11

Likely benign 66

Uncertain significance 281