PTPN13 — 385 ClinVar variants

All ClinVar germline PTPN13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 335 flagged for review →

2 Conflicting · 6 Benign · 1 Benign/Likely benign · 24 Likely benign · 352 Uncertain significance

Full PTPN13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 335

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 278

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 278

Predictors split 55

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

All PTPN13 variants

Conflicting classifications of pathogenicity 2

Benign 6

Benign/Likely benign 1

  • p.Leu90Val Multiple submitters PTPN13-related disorder

Likely benign 24

Uncertain significance 352

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