Sugi Variant

Sugi Variant/GNB5

GNB5 — 223 ClinVar variants

All ClinVar germline GNB5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

16 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 51 Benign · 3 Benign/Likely benign · 55 Likely benign · 84 Uncertain significance

Full GNB5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 lean, ClinVar uncertain 57

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

Predictors split 22

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

All GNB5 variants

Pathogenic 16

  • p.Glu88fs Multiple submitters GNB5-reled disorder
  • p.Ser123Leu Multiple submitters gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Tyr344Ter Multiple submitters gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • c.239-2A>C Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • c.375+1G>T Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • c.627+1G>A Single submitter GNB5-related disorder
  • p.Asp116fs Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Gln125= Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Glu281fs Single submitter
  • p.Leu167fs Single submitter
  • p.Ser172fs Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Trp222Ter Single submitter Inborn genetic diseases
  • p.Trp387Ser Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome ⚠
  • p.Ala161fs No assertion criteria gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Cys153Tyr No assertion criteria gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Ser123Ter No assertion criteria gnb5-related intellectual disability-cardiac arrhythmia syndrome

Pathogenic/Likely pathogenic 3

  • p.Arg21Ter Multiple submitters GNB5-related disorder
  • p.Arg288Gln Multiple submitters gnb5-related intellectual disability-cardiac arrhythmia syndrome ⚠
  • p.Ser214fs Multiple submitters congenital nervous system disorder

Likely pathogenic 11

  • p.Ser123Trp Multiple submitters Global developmental delay
  • c.1009+1G>C Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • c.375+1G>A Single submitter GNB5-related disorder
  • c.375+1G>C Single submitter GNB5-related disorder
  • c.494+1G>T Single submitter GNB5-related disorder
  • c.628-6G>A Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • c.864-1G>T Single submitter
  • p.Arg374Ter Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Cys273Ter Single submitter gnb5-related intellectual disability-cardiac arrhythmia syndrome
  • p.Glu52Ter Single submitter Cardiovascular phenotype
  • p.Phe364fs Single submitter

Benign 51

Benign/Likely benign 3

Likely benign 55

Uncertain significance 84