Sugi Variant

Sugi Variant/RELB

RELB — 477 ClinVar variants

All ClinVar germline RELB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 8 Benign · 7 Benign/Likely benign · 214 Likely benign · 244 Uncertain significance

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

⚑ Evidence disagreements 218

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.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 179

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 179

Predictors split 37

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

All RELB variants

Pathogenic 1

  • p.Tyr397Ter No assertion criteria immunodeficiency 53

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

Benign 8

Benign/Likely benign 7

Likely benign 214

Uncertain significance 244