Sugi Variant

Sugi Variant/GNE

GNE — 1194 ClinVar variants

All ClinVar germline GNE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 422 flagged for review →

73 Pathogenic · 45 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 81 Conflicting · 47 Benign · 10 Benign/Likely benign · 371 Likely benign · 470 Uncertain significance

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

⚑ Evidence disagreements 422

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 17

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

Predictors agree, ClinVar conflicts 25

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

Predictors lean, ClinVar uncertain 221

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 221

Predictors split 159

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 159

All GNE variants

Pathogenic 73

Pathogenic/Likely pathogenic 45

Likely pathogenic 97

Conflicting classifications of pathogenicity 81

Benign 47

Benign/Likely benign 10

Likely benign 371

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

Uncertain significance 470

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