Sugi Variant

Sugi Variant/BRAF

BRAF — 1516 ClinVar variants

All ClinVar germline BRAF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 465 flagged for review →

49 Pathogenic · 28 Pathogenic/Likely pathogenic · 38 Likely pathogenic · 75 Conflicting · 102 Benign · 38 Benign/Likely benign · 522 Likely benign · 664 Uncertain significance

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

⚑ Evidence disagreements 465

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 31

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

Predictors lean, ClinVar uncertain 315

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 315

Predictors split 118

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

All BRAF variants

Pathogenic 49

Pathogenic/Likely pathogenic 28

  • p.Ala481Glu Multiple submitters cardiofaciocutaneous syndrome
  • p.Ala712Asp Multiple submitters cardiofaciocutaneous syndrome 1
  • p.Asn581Lys Multiple submitters cardiofaciocutaneous syndrome
  • p.Asp638Glu Multiple submitters RASopathy
  • p.Gln257Lys Multiple submitters Noonan 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 RASopathy
  • 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 Inborn genetic diseases
  • 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 LEOPARD syndrome 3
  • p.Phe468Ser Multiple submitters BRAF-related disorder
  • p.Thr241Met Multiple submitters BRAF-related disorder
  • p.Thr241Pro Multiple submitters cardiofaciocutaneous syndrome
  • p.Trp531Arg Multiple submitters BRAF-related disorder
  • p.Val471Phe Multiple submitters RASopathy
  • p.Val487Gly Multiple submitters BRAF-related disorder
  • p.Val600Leu Multiple submitters cardiofaciocutaneous syndrome 1 ⚠

Likely pathogenic 38

Conflicting classifications of pathogenicity 75

Benign 102

Benign/Likely benign 38

Likely benign 522

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

Uncertain significance 664

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