Sugi Variant

Sugi Variant/RHOBTB2

RHOBTB2 — 852 ClinVar variants

All ClinVar germline RHOBTB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 340 flagged for review →

4 Pathogenic · 6 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 59 Conflicting · 69 Benign · 33 Benign/Likely benign · 364 Likely benign · 311 Uncertain significance

Full RHOBTB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 340

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 33

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

Predictors lean, ClinVar uncertain 168

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 168

Predictors split 139

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

All RHOBTB2 variants

Pathogenic 4

Pathogenic/Likely pathogenic 6

  • p.Arg461His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg485Cys Multiple submitters developmental and epileptic encephalopathy, 64 ⚠
  • p.Arg489Gly Multiple submitters developmental and epileptic encephalopathy, 64 ⚠
  • p.Arg489Trp Multiple submitters developmental and epileptic encephalopathy, 64
  • p.Arg94Cys Multiple submitters developmental and epileptic encephalopathy, 64
  • p.Asn488Asp Multiple submitters developmental and epileptic encephalopathy, 64 ⚠

Likely pathogenic 6

  • p.Ala35Ser Single submitter developmental and epileptic encephalopathy, 64 ⚠
  • p.Ala452Gly Single submitter developmental and epileptic encephalopathy, 64
  • p.Arg132Ter Single submitter developmental and epileptic encephalopathy, 64
  • p.His90Tyr Single submitter ⚠
  • p.Met474Thr Single submitter RHOBTB2-related disorder ⚠
  • p.Ser219Phe Single submitter developmental and epileptic encephalopathy, 64 ⚠

Conflicting classifications of pathogenicity 59

Benign 69

Benign/Likely benign 33

Likely benign 364

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 311

Showing the top 300 by review status; the full set is in the sitemap.