Sugi Variant

Sugi Variant/MAGEL2

MAGEL2 — 1348 ClinVar variants

All ClinVar germline MAGEL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 747 flagged for review →

44 Pathogenic · 6 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 93 Conflicting · 12 Benign · 34 Benign/Likely benign · 192 Likely benign · 920 Uncertain significance

Full MAGEL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 747

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 3

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

Predictors agree, ClinVar conflicts 51

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

Predictors lean, ClinVar uncertain 491

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 491

Predictors split 202

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 202

All MAGEL2 variants

Pathogenic 44

Pathogenic/Likely pathogenic 6

Likely pathogenic 47

Conflicting classifications of pathogenicity 93

Benign 12

Benign/Likely benign 34

Likely benign 192

Uncertain significance 920

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