Sugi Variant

Sugi Variant/FLG2

FLG2 — 422 ClinVar variants

All ClinVar germline FLG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 325 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 6 Conflicting · 19 Benign · 1 Benign/Likely benign · 66 Likely benign · 325 Uncertain significance

Full FLG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 325

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 3

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

Predictors lean, ClinVar uncertain 141

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

Predictors split 181

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 181

All FLG2 variants

Pathogenic 1

  • p.Tyr355Ter No assertion criteria peeling skin syndrome 6

Pathogenic/Likely pathogenic 1

  • p.Ser211Ter Multiple submitters peeling skin syndrome 6

Likely pathogenic 3

Conflicting classifications of pathogenicity 6

Benign 19

Benign/Likely benign 1

  • p.Phe946Ser Multiple submitters peeling skin syndrome 6

Likely benign 66

Uncertain significance 325

Showing the top 300 by review status; the full set is in the sitemap.