Sugi Variant

Sugi Variant/JAM2

JAM2 — 71 ClinVar variants

All ClinVar germline JAM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 22 Benign · 2 Likely benign · 38 Uncertain significance

Full JAM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 37

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 30

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

Predictors split 6

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

All JAM2 variants

Pathogenic 8

  • p.Arg229Ter Multiple submitters JAM2-related disorder
  • c.395-1dup No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive
  • c.(67+1_68-1 No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive
  • p.Arg108His No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive ⚠
  • p.Ile47_Leu48insTer No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive
  • p.Met1Val No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive
  • p.Ser59_Arg60insTer No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive
  • p.Trp168Cys No assertion criteria basal ganglia calcification, idiopathic, 8, autosomal recessive

Likely pathogenic 1

Benign 22

Likely benign 2

Uncertain significance 38