Sugi Variant

Sugi Variant/MAPKBP1

MAPKBP1 — 524 ClinVar variants

All ClinVar germline MAPKBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 244 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 12 Conflicting · 37 Benign · 17 Benign/Likely benign · 182 Likely benign · 256 Uncertain significance

Full MAPKBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 244

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 10

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

Predictors lean, ClinVar uncertain 208

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 208

Predictors split 26

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

All MAPKBP1 variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • p.Ser424fs Multiple submitters MAPKBP1-related disorder

Likely pathogenic 12

Conflicting classifications of pathogenicity 12

Benign 37

Benign/Likely benign 17

Likely benign 182

Uncertain significance 256