Sugi Variant

Sugi Variant/MAP2K2

MAP2K2 — 903 ClinVar variants

All ClinVar germline MAP2K2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 352 flagged for review →

6 Pathogenic · 6 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 52 Conflicting · 78 Benign · 33 Benign/Likely benign · 324 Likely benign · 394 Uncertain significance

Full MAP2K2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 352

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 24

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

Predictors lean, ClinVar uncertain 249

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 249

Predictors split 79

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

All MAP2K2 variants

Pathogenic 6

Pathogenic/Likely pathogenic 6

  • p.Asn126Asp Multiple submitters cardiofaciocutaneous syndrome 4 ⚠
  • p.Gly132Asp Multiple submitters Cardiovascular phenotype
  • p.Lys61Asn Multiple submitters cardiofaciocutaneous syndrome 4
  • p.Lys61Glu Multiple submitters cardiofaciocutaneous syndrome 4
  • p.Phe57Leu Multiple submitters cardiofaciocutaneous syndrome 4
  • p.Pro128Leu Multiple submitters MAP2K2-related disorder

Likely pathogenic 10

Conflicting classifications of pathogenicity 52

Benign 78

Benign/Likely benign 33

Likely benign 324

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

Uncertain significance 394

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