Sugi Variant

Sugi Variant/GNAQ

GNAQ — 63 ClinVar variants

All ClinVar germline GNAQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 14 Benign · 2 Benign/Likely benign · 22 Likely benign · 17 Uncertain significance

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

⚑ Evidence disagreements 13

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 lean, ClinVar uncertain 9

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

Predictors split 4

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

All GNAQ variants

Pathogenic 5

  • p.Gln209His Multiple submitters familial multiple nevi flammei
  • p.Arg183Gly Single submitter familial multiple nevi flammei
  • p.Arg183Leu Single submitter Segmental undergrowth associated with capillary malformation
  • p.Gln209Arg Single submitter Sturge-Weber syndrome
  • p.Gln209Leu Single submitter Sturge-Weber syndrome

Pathogenic/Likely pathogenic 2

  • p.Arg183Gln Multiple submitters GNAQ-related disorder
  • p.Gly48Val Multiple submitters Sturge-Weber syndrome

Likely pathogenic 1

Benign 14

Benign/Likely benign 2

Likely benign 22

Uncertain significance 17