Sugi Variant

Sugi Variant/JAK1

JAK1 — 815 ClinVar variants

All ClinVar germline JAK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 347 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 37 Benign · 2 Benign/Likely benign · 389 Likely benign · 381 Uncertain significance

Full JAK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 347

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 1

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

Predictors lean, ClinVar uncertain 230

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 230

Predictors split 115

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

All JAK1 variants

Pathogenic 2

  • p.His596Asp No assertion criteria autoinflammation, immune dysregulation, and eosinophilia ⚠
  • p.Ser703Ile No assertion criteria autoinflammation, immune dysregulation, and eosinophilia

Likely pathogenic 1

  • p.Leu783Phe Single submitter acute megakaryoblastic leukemia in down syndrome

Conflicting classifications of pathogenicity 3

  • p.Arg506Cys Single submitter autoinflammation, immune dysregulation, and eosinophilia ⚠
  • p.Arg809Trp Single submitter autoinflammation, immune dysregulation, and eosinophilia ⚠
  • p.Asn833Ser Single submitter ⚠

Benign 37

Benign/Likely benign 2

Likely benign 389

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

Uncertain significance 381

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