Sugi Variant

Sugi Variant/GALC

GALC — 1491 ClinVar variants

All ClinVar germline GALC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 415 flagged for review →

139 Pathogenic · 70 Pathogenic/Likely pathogenic · 135 Likely pathogenic · 92 Conflicting · 103 Benign · 15 Benign/Likely benign · 519 Likely benign · 418 Uncertain significance

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

⚑ Evidence disagreements 415

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 18

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

Predictors agree, ClinVar conflicts 32

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

Predictors lean, ClinVar uncertain 223

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 223

Predictors split 142

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

All GALC variants

Pathogenic 139

Pathogenic/Likely pathogenic 70

Likely pathogenic 135

Conflicting classifications of pathogenicity 92

Benign 103

Benign/Likely benign 15

Likely benign 519

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

Uncertain significance 418

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