Sugi Variant

Sugi Variant/RORB

RORB — 451 ClinVar variants

All ClinVar germline RORB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 204 flagged for review →

33 Pathogenic · 3 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 32 Conflicting · 9 Benign · 10 Benign/Likely benign · 133 Likely benign · 208 Uncertain significance

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

⚑ Evidence disagreements 204

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 23

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 143

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

Predictors split 37

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

All RORB variants

Pathogenic 33

Pathogenic/Likely pathogenic 3

  • c.94-1G>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 15
  • p.Arg214Ter Multiple submitters RORB-related disorder
  • p.Arg66Ter Multiple submitters epilepsy

Likely pathogenic 23

Conflicting classifications of pathogenicity 32

Benign 9

Benign/Likely benign 10

Likely benign 133

Uncertain significance 208