Sugi Variant

Sugi Variant/MAP3K20

MAP3K20 — 456 ClinVar variants

All ClinVar germline MAP3K20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Conflicting · 47 Benign · 6 Benign/Likely benign · 230 Likely benign · 154 Uncertain significance

Full MAP3K20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 1

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 28

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

All MAP3K20 variants

Pathogenic 10

Pathogenic/Likely pathogenic 1

  • p.Asn95Ter No assertion criteria myopathy, centronuclear, 6, with fiber-type disproportion

Likely pathogenic 4

Conflicting classifications of pathogenicity 4

Benign 47

Benign/Likely benign 6

Likely benign 230

Uncertain significance 154