Sugi Variant

Sugi Variant/PTPN11

PTPN11 — 1284 ClinVar variants

All ClinVar germline PTPN11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 498 flagged for review →

86 Pathogenic · 38 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 70 Conflicting · 59 Benign · 27 Benign/Likely benign · 413 Likely benign · 532 Uncertain significance

Full PTPN11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 498

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 2

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 315

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 315

Predictors split 153

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 153

All PTPN11 variants

Pathogenic 86

Pathogenic/Likely pathogenic 38

Likely pathogenic 59

Conflicting classifications of pathogenicity 70

Benign 59

Benign/Likely benign 27

Likely benign 413

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

Uncertain significance 532

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