Sugi Variant

Sugi Variant/PTPRC

PTPRC — 1253 ClinVar variants

All ClinVar germline PTPRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 379 flagged for review →

19 Pathogenic · 1 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 23 Conflicting · 50 Benign · 24 Benign/Likely benign · 717 Likely benign · 399 Uncertain significance

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

⚑ Evidence disagreements 379

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 18

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

Predictors lean, ClinVar uncertain 304

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 304

Predictors split 56

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

All PTPRC variants

Pathogenic 19

Pathogenic/Likely pathogenic 1

Likely pathogenic 20

Conflicting classifications of pathogenicity 23

Benign 50

Benign/Likely benign 24

Likely benign 717

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

Uncertain significance 399

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