Sugi Variant

Sugi Variant/GLA

GLA — 1905 ClinVar variants

All ClinVar germline GLA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 659 flagged for review →

526 Pathogenic · 163 Pathogenic/Likely pathogenic · 328 Likely pathogenic · 129 Conflicting · 22 Benign · 14 Benign/Likely benign · 254 Likely benign · 469 Uncertain significance

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

⚑ Evidence disagreements 659

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 118

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

Predictors agree, ClinVar conflicts 63

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

Predicted LoF vs a conflicting call 1

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 281

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 281

Predictors split 196

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 196

All GLA variants

Pathogenic 526

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

Pathogenic/Likely pathogenic 163

Likely pathogenic 328

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

Conflicting classifications of pathogenicity 129

Benign 22

Benign/Likely benign 14

Likely benign 254

Uncertain significance 469

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