Sugi Variant

Sugi Variant/ROR2

ROR2 — 902 ClinVar variants

All ClinVar germline ROR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 433 flagged for review →

34 Pathogenic · 1 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 83 Conflicting · 47 Benign · 24 Benign/Likely benign · 212 Likely benign · 476 Uncertain significance

Full ROR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 433

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 agree, ClinVar conflicts 38

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

Predictors lean, ClinVar uncertain 295

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 295

Predictors split 99

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

All ROR2 variants

Pathogenic 34

Pathogenic/Likely pathogenic 1

  • p.Arg528Ter Multiple submitters autosomal recessive Robinow syndrome

Likely pathogenic 25

  • c.175+1G>A Multiple submitters autosomal recessive Robinow syndrome
  • p.Arg108Gln Single submitter autosomal recessive Robinow syndrome
  • p.Arg184Cys Single submitter brachydactyly type B1
  • p.Arg366Trp Single submitter brachydactyly type B1
  • p.Arg522fs Single submitter autosomal recessive Robinow syndrome
  • p.Arg619fs Single submitter autosomal recessive Robinow syndrome
  • p.Arg785fs Single submitter autosomal recessive Robinow syndrome
  • p.Gln380fs Single submitter autosomal recessive Robinow syndrome
  • p.Glu267Ter Single submitter autosomal recessive Robinow syndrome
  • p.Gly214Arg Single submitter autosomal recessive Robinow syndrome ⚠
  • p.His362fs Single submitter autosomal recessive Robinow syndrome
  • p.Lys285Arg Single submitter autosomal recessive Robinow syndrome ⚠
  • p.Ser673Ter Single submitter autosomal recessive Robinow syndrome
  • p.Trp376Ter Single submitter
  • p.Tyr755_Asn756insTer Single submitter brachydactyly type B1
  • p.Val623Ala Single submitter
  • c.494+4_494+7del No assertion criteria autosomal recessive Robinow syndrome
  • p.Arg619Ser No assertion criteria autosomal recessive Robinow syndrome
  • p.Asn367Ile No assertion criteria autosomal recessive Robinow syndrome
  • p.Cys300Phe No assertion criteria autosomal recessive Robinow syndrome
  • p.Cys83Tyr No assertion criteria autosomal recessive Robinow syndrome
  • p.Ile506Phe No assertion criteria autosomal recessive Robinow syndrome
  • p.Phe739Leu No assertion criteria autosomal recessive Robinow syndrome
  • p.Pro692Thr No assertion criteria autosomal recessive Robinow syndrome
  • p.Tyr317Cys No assertion criteria autosomal recessive Robinow syndrome

Conflicting classifications of pathogenicity 83

Benign 47

Benign/Likely benign 24

  • c.175+17A>G Multiple submitters brachydactyly type B1
  • c.937+10C>T Multiple submitters autosomal recessive Robinow syndrome
  • c.-91G>A Multiple submitters autosomal recessive Robinow syndrome
  • c.*229C>T Multiple submitters autosomal recessive Robinow syndrome
  • c.*245A>G Multiple submitters brachydactyly type B1
  • c.*736A>G Multiple submitters brachydactyly type B1
  • p.Arg244Trp Multiple submitters brachydactyly type B1
  • p.Arg312His Multiple submitters brachydactyly type B1
  • p.Arg3Trp Multiple submitters autosomal recessive Robinow syndrome ⚠
  • p.Arg530Gln Multiple submitters autosomal recessive Robinow syndrome
  • p.Asn822= Multiple submitters brachydactyly type B1
  • p.Asn92= Multiple submitters autosomal recessive Robinow syndrome
  • p.Asp124= Multiple submitters brachydactyly type B1
  • p.Cys239= Multiple submitters brachydactyly type B1
  • p.Glu703Asp Multiple submitters
  • p.His571Arg Multiple submitters brachydactyly type B1
  • p.Leu251= Multiple submitters autosomal recessive Robinow syndrome
  • p.Pro248= Multiple submitters brachydactyly type B1
  • p.Pro570= Multiple submitters brachydactyly type B1
  • p.Thr157= Multiple submitters autosomal recessive Robinow syndrome
  • p.Tyr688= Multiple submitters
  • c.-60G>T Single submitter autosomal recessive Robinow syndrome
  • c.*521G>A Single submitter brachydactyly type B1
  • c.*927C>T Single submitter brachydactyly type B1

Likely benign 212

Uncertain significance 476

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