Sugi Variant

Sugi Variant/ROBO2

ROBO2 — 675 ClinVar variants

All ClinVar germline ROBO2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 307 flagged for review →

23 Conflicting · 110 Benign · 21 Benign/Likely benign · 106 Likely benign · 415 Uncertain significance

Full ROBO2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 307

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 15

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 203

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 203

Predictors split 88

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

All ROBO2 variants

Conflicting classifications of pathogenicity 23

Benign 110

Benign/Likely benign 21

  • c.1072-10G>A Multiple submitters vesicoureteral reflux 2
  • c.2738+9C>T Multiple submitters vesicoureteral reflux 2
  • c.3566+13del Multiple submitters
  • c.668-5dup Multiple submitters
  • p.Ala1225= Multiple submitters vesicoureteral reflux 2
  • p.Arg57= Multiple submitters vesicoureteral reflux 2
  • p.Arg677His Multiple submitters vesicoureteral reflux 2 ⚠
  • p.Arg815Gln Multiple submitters vesicoureteral reflux 2
  • p.Arg914= Multiple submitters vesicoureteral reflux 2
  • p.Asn519Ile Multiple submitters vesicoureteral reflux 2
  • p.Asp274= Multiple submitters
  • p.Cys154= Multiple submitters vesicoureteral reflux 2
  • p.Gly1447= Multiple submitters vesicoureteral reflux 2
  • p.Gly68= Multiple submitters vesicoureteral reflux 2
  • p.Lys1296= Multiple submitters vesicoureteral reflux 2
  • p.Pro157= Multiple submitters vesicoureteral reflux 2
  • p.Ser1255= Multiple submitters vesicoureteral reflux 2
  • p.Ser802= Multiple submitters vesicoureteral reflux 2
  • p.Thr1441= Multiple submitters vesicoureteral reflux 2
  • p.Thr432= Multiple submitters vesicoureteral reflux 2
  • p.Thr652= Multiple submitters vesicoureteral reflux 2

Likely benign 106

Uncertain significance 415

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