PTPN14 — 259 ClinVar variants

All ClinVar germline PTPN14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 60 Benign · 7 Benign/Likely benign · 33 Likely benign · 155 Uncertain significance

Full PTPN14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 138

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 lean, ClinVar uncertain 120

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

All PTPN14 variants

Pathogenic 3

Likely pathogenic 1

  • p.Arg640His No assertion criteria esophageal atresia/tracheoesophageal fistula ⚠

Benign 60

Benign/Likely benign 7

Likely benign 33

Uncertain significance 155