Sugi Variant

Sugi Variant/YWHAG

YWHAG — 234 ClinVar variants

All ClinVar germline YWHAG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

20 Pathogenic · 5 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 4 Conflicting · 6 Benign · 6 Benign/Likely benign · 96 Likely benign · 90 Uncertain significance

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

⚑ Evidence disagreements 73

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 4

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

Predictors lean, ClinVar uncertain 55

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

Predictors split 14

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

All YWHAG variants

Pathogenic 20

Pathogenic/Likely pathogenic 5

  • p.Ala193Val Multiple submitters developmental and epileptic encephalopathy, 56
  • p.Arg132Cys Multiple submitters Inborn genetic diseases
  • p.Arg42Ter Multiple submitters developmental and epileptic encephalopathy, 56
  • p.Arg57His Multiple submitters YWHAG-related disorder
  • p.Asp129Glu Multiple submitters developmental and epileptic encephalopathy, 56

Likely pathogenic 7

Conflicting classifications of pathogenicity 4

Benign 6

Benign/Likely benign 6

Likely benign 96

Uncertain significance 90