Sugi Variant

Sugi Variant/BRAF

BRAF — 1439 ClinVar variants

All ClinVar germline BRAF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 482 flagged for review →

50 Pathogenic · 27 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 68 Conflicting · 102 Benign · 32 Benign/Likely benign · 483 Likely benign · 641 Uncertain significance

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

⚑ Evidence disagreements 482

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 28

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

Predictors lean, ClinVar uncertain 276

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 276

Predictors split 177

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 177

All BRAF variants

Pathogenic 50

Pathogenic/Likely pathogenic 27

  • p.Ala481Glu Multiple submitters cardiofaciocutaneous syndrome
  • p.Ala712Asp Multiple submitters Noonan syndrome
  • p.Asn581Lys Multiple submitters cardiofaciocutaneous syndrome
  • p.Asp638Glu Multiple submitters Inborn genetic diseases
  • p.Gln257Lys Multiple submitters cardiofaciocutaneous syndrome
  • p.Gln262Arg Multiple submitters Cardiovascular phenotype
  • p.Gln262Lys Multiple submitters RASopathy
  • p.Gln262Pro Multiple submitters cardiofaciocutaneous syndrome
  • p.Glu275Lys Multiple submitters RASopathy
  • p.Glu501Gly Multiple submitters cardiofaciocutaneous syndrome
  • p.Glu501Lys Multiple submitters Cardiovascular phenotype
  • p.Glu501Val Multiple submitters cardiofaciocutaneous syndrome
  • p.Gly464Val Multiple submitters Noonan syndrome and Noonan-related syndrome
  • p.Gly469Arg Multiple submitters cardiofaciocutaneous syndrome
  • p.Gly534Arg Multiple submitters Inborn genetic diseases
  • p.Leu525Gln Multiple submitters cardiofaciocutaneous syndrome 1
  • p.Leu525Pro Multiple submitters melanoma
  • p.Lys483Gln Multiple submitters cardiofaciocutaneous syndrome
  • p.Lys499Asn Multiple submitters cardiofaciocutaneous syndrome
  • p.Lys499Glu Multiple submitters Noonan syndrome and Noonan-related syndrome
  • p.Lys601Ile Multiple submitters RASopathy
  • p.Phe468Ser Multiple submitters Noonan syndrome and Noonan-related syndrome
  • p.Thr241Met Multiple submitters BRAF-related disorder
  • p.Thr241Pro Multiple submitters cardiofaciocutaneous syndrome
  • p.Val471Phe Multiple submitters RASopathy
  • p.Val487Gly Multiple submitters Inborn genetic diseases
  • p.Val600Leu Multiple submitters cardiofaciocutaneous syndrome 1

Likely pathogenic 36

Conflicting classifications of pathogenicity 68

Benign 102

Benign/Likely benign 32

Likely benign 483

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

Uncertain significance 641

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