Sugi Variant

Sugi Variant/FLG

FLG — 2412 ClinVar variants

All ClinVar germline FLG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1296 flagged for review →

132 Pathogenic · 70 Pathogenic/Likely pathogenic · 71 Likely pathogenic · 74 Conflicting · 133 Benign · 24 Benign/Likely benign · 609 Likely benign · 1299 Uncertain significance

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

⚑ Evidence disagreements 1296

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 58

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 1214

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 1214

Predictors split 22

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

All FLG variants

Pathogenic 132

Pathogenic/Likely pathogenic 70

Likely pathogenic 71

Conflicting classifications of pathogenicity 74

Benign 133

Benign/Likely benign 24

Likely benign 609

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

Uncertain significance 1299

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