Sugi Variant

Sugi Variant/VWF

VWF — 1952 ClinVar variants

All ClinVar germline VWF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 624 flagged for review →

218 Pathogenic · 35 Pathogenic/Likely pathogenic · 210 Likely pathogenic · 100 Conflicting · 92 Benign · 52 Benign/Likely benign · 251 Likely benign · 994 Uncertain significance

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

⚑ Evidence disagreements 624

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 46

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 41

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

Predictors lean, ClinVar uncertain 462

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 462

Predictors split 75

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

All VWF variants

Pathogenic 218

Pathogenic/Likely pathogenic 35

  • c.2443-1G>C Multiple submitters von Willebrand disease 3
  • c.3675-1G>A Multiple submitters von Willebrand disease (hereditary or acquired)
  • c.7730-2del Multiple submitters
  • c.8155+6T>A Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Ala1437Thr Multiple submitters von Willebrand disease (hereditary or acquired) ⚠
  • p.Arg1205Cys Multiple submitters von Willebrand disease (hereditary or acquired) ⚠
  • p.Arg1315Cys Multiple submitters von Willebrand disease 1
  • p.Arg1341Leu Multiple submitters ⚠
  • p.Arg1374Leu Multiple submitters hereditary von Willebrand disease
  • p.Arg2464Cys Multiple submitters hereditary von Willebrand disease
  • p.Arg273Trp Multiple submitters hereditary von Willebrand disease
  • p.Asp141Asn Multiple submitters hereditary von Willebrand disease ⚠
  • p.Cys1130= Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Cys2212fs Multiple submitters von Willebrand disease 1
  • p.Cys2304Tyr Multiple submitters von Willebrand disease 1
  • p.Cys2557fs Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Gln2470Ter Multiple submitters hereditary von Willebrand disease
  • p.Gln793Ter Multiple submitters von Willebrand disease 1
  • p.Glu1359Lys Multiple submitters von Willebrand disease 1
  • p.Gly1180Arg Multiple submitters von Willebrand disease type 2A ⚠
  • p.Gly1631Asp Multiple submitters von Willebrand disease 2
  • p.Gly839fs Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Ile1416Asn Multiple submitters hereditary von Willebrand disease
  • p.Ile1416Thr Multiple submitters hereditary von Willebrand disease
  • p.Leu1288Arg Multiple submitters hereditary von Willebrand disease
  • p.Leu1781fs Multiple submitters von Willebrand disease 3
  • p.Leu17fs Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Leu2495fs Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Leu757fs Multiple submitters von Willebrand disease 3
  • p.Pro2808fs Multiple submitters VWF-related disorder
  • p.Ser1506Leu Multiple submitters hereditary von Willebrand disease
  • p.Ser2179Phe Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Thr1156Met Multiple submitters von Willebrand disease (hereditary or acquired)
  • p.Trp1644Ter Multiple submitters hereditary von Willebrand disease
  • p.Trp553fs Multiple submitters

Likely pathogenic 210

Conflicting classifications of pathogenicity 100

Benign 92

Benign/Likely benign 52

Likely benign 251

Uncertain significance 994

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