Sugi Variant

Sugi Variant/DYRK1B

DYRK1B — 351 ClinVar variants

All ClinVar germline DYRK1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

2 Pathogenic · 4 Conflicting · 10 Benign · 9 Benign/Likely benign · 135 Likely benign · 191 Uncertain significance

Full DYRK1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 173

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 2

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 35

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

All DYRK1B variants

Pathogenic 2

  • p.Arg102Cys Single submitter abdominal obesity-metabolic syndrome 3 ⚠
  • p.His90Pro No assertion criteria abdominal obesity-metabolic syndrome 3

Conflicting classifications of pathogenicity 4

Benign 10

Benign/Likely benign 9

Likely benign 135

Uncertain significance 191