Sugi Variant

Sugi Variant/SON

SON — 1784 ClinVar variants

All ClinVar germline SON variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 792 flagged for review →

110 Pathogenic · 7 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 59 Conflicting · 94 Benign · 49 Benign/Likely benign · 634 Likely benign · 780 Uncertain significance

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

⚑ Evidence disagreements 792

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 32

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

Predictors lean, ClinVar uncertain 424

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 424

Predictors split 335

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 335

All SON variants

Pathogenic 110

Pathogenic/Likely pathogenic 7

Likely pathogenic 51

Conflicting classifications of pathogenicity 59

Benign 94

Benign/Likely benign 49

Likely benign 634

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

Uncertain significance 780

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