Sugi Variant

Sugi Variant/FREM2

FREM2 — 2425 ClinVar variants

All ClinVar germline FREM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 645 flagged for review →

80 Pathogenic · 10 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 109 Conflicting · 122 Benign · 45 Benign/Likely benign · 967 Likely benign · 1048 Uncertain significance

Full FREM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 645

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 40

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

Predictors lean, ClinVar uncertain 576

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 576

Predictors split 28

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

All FREM2 variants

Pathogenic 80

Pathogenic/Likely pathogenic 10

Likely pathogenic 44

Conflicting classifications of pathogenicity 109

Benign 122

Benign/Likely benign 45

Likely benign 967

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

Uncertain significance 1048

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