Von Willebrand disease: genes and variants
Explore variant evidence for Von Willebrand disease across 1 analyzed protein (VWF). Linked ClinVar records include 112 pathogenic or likely pathogenic variants, 153 variants of uncertain significance and 29 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-01. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Von Willebrand disease
VWF: von Willebrand factor
It tethers platelets to damaged vessel walls and carries factor VIII in the circulation, linking primary hemostasis with coagulation. Quantitative or qualitative pathogenic variants cause von Willebrand disease, the most common inherited bleeding disorder.
112 ClinVar pathogenic / likely pathogenic and 182 uncertain variants in VWF have source records linked to Von Willebrand disease. Association strength is not clinical gene validity.
Where Von Willebrand disease variants cluster
- VWF VWFA 1 (positions 1277–1453): 40 of 112 ClinVar pathogenic / likely pathogenic variants, 5.7× more than its size predicts.
- VWF VWFA 2 (positions 1498–1665): 15 of 112 ClinVar pathogenic / likely pathogenic variants, 2.2× more than its size predicts.
- VWF TIL 4 (positions 1146–1196): 6 of 112 ClinVar pathogenic / likely pathogenic variants, 3.0× more than its size predicts.
- VWF E1 (positions 788–833): 5 of 112 ClinVar pathogenic / likely pathogenic variants, 2.7× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Von Willebrand disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| VWF A1437T | 1437 | VWFA 1 | Pathogenic / likely pathogenic (★★★★) |
| VWF C1190Y | 1190 | TIL 4 | Pathogenic / likely pathogenic (★★★) |
| VWF R1341Q | 1341 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF R1374H | 1374 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF C1190R | 1190 | TIL 4 | Pathogenic / likely pathogenic (★★★) |
| VWF C1190F | 1190 | TIL 4 | Pathogenic / likely pathogenic (★★★) |
| VWF S1285F | 1285 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF I1309N | 1309 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF S1310F | 1310 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF V1314D | 1314 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF R1315L | 1315 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF R1315H | 1315 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF G1324S | 1324 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF R1341W | 1341 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF I1628T | 1628 | VWFA 2 | Pathogenic / likely pathogenic (★★★) |
| VWF C1149R | 1149 | TIL 4 | Pathogenic / likely pathogenic (★★★) |
| VWF G1415D | 1415 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF C1060R | 1060 | Pathogenic / likely pathogenic (★★★) | |
| VWF R1308C | 1308 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF I1309V | 1309 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF V1314F | 1314 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF V1314L | 1314 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF G1324A | 1324 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF G1629R | 1629 | VWFA 2 | Pathogenic / likely pathogenic (★★★) |
| VWF C2773R | 2773 | CTCK | Pathogenic / likely pathogenic (★★★) |
| VWF C2773S | 2773 | CTCK | Pathogenic / likely pathogenic (★★★) |
| VWF Y1146C | 1146 | TIL 4 | Pathogenic / likely pathogenic (★★★) |
| VWF W1313C | 1313 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF V1316M | 1316 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF L1361S | 1361 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF T791M | 791 | TIL 3 | Pathogenic / likely pathogenic (★★★) |
| VWF Y795C | 795 | TIL 3 | Pathogenic / likely pathogenic (★★★) |
| VWF R1306W | 1306 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF F1514C | 1514 | VWFA 2 | Pathogenic / likely pathogenic (★★★) |
| VWF T1578N | 1578 | VWFA 2 | Pathogenic / likely pathogenic (★★★) |
| VWF R1597W | 1597 | VWFA 2 | Pathogenic / likely pathogenic (★★★) |
| VWF W1745C | 1745 | VWFA 3 | Pathogenic / likely pathogenic (★★★) |
| VWF N528S | 528 | VWFD 2 | Pathogenic / likely pathogenic (★★★) |
| VWF C804F | 804 | TIL 3 | Pathogenic / likely pathogenic (★★★) |
| VWF R816W | 816 | TIL 3 | Pathogenic / likely pathogenic (★★★) |
| VWF C849Y | 849 | CX | Pathogenic / likely pathogenic (★★★) |
| VWF D879N | 879 | VWFD 3 | Pathogenic / likely pathogenic (★★★) |
| VWF R1334W | 1334 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF P1337L | 1337 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF R1399C | 1399 | VWFA 1 | Pathogenic / likely pathogenic (★★★) |
| VWF G1609R | 1609 | VWFA 2 | Pathogenic / likely pathogenic (★★★) |
| VWF S1783A | 1783 | VWFA 3 | Pathogenic / likely pathogenic (★★★) |
| VWF R854Q | 854 | Pathogenic / likely pathogenic (★★★) | |
| VWF H1268D | 1268 | Pathogenic / likely pathogenic (★★★) | |
| VWF R760C | 760 | Pathogenic / likely pathogenic (★★★) | |
| VWF R1374L | 1374 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| VWF R1315C | 1315 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| VWF R1374C | 1374 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| VWF G1631D | 1631 | VWFA 2 | Pathogenic / likely pathogenic (★★) |
| VWF C2184Y | 2184 | Pathogenic / likely pathogenic (★★) | |
| VWF R273W | 273 | Pathogenic / likely pathogenic (★★) | |
| VWF L1288R | 1288 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| VWF I1416T | 1416 | VWFA 1 | Pathogenic / likely pathogenic (★★) |
| VWF L536P | 536 | VWFD 2 | Pathogenic / likely pathogenic (★★) |
| VWF W1120S | 1120 | Pathogenic / likely pathogenic (★★) |
Showing 60 of 112.
Uncertain variants prioritized for review in Von Willebrand disease
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| VWF G1415C | 1415 | VWFA 1 | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; G1415D at the same position is pathogenic; REVEL 0.802 |
| VWF V1316L | 1316 | VWFA 1 | Uncertain (★) | +6: 8 other pathogenic changes within 3 positions; V1316M at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.667 |
Which prediction tools work for Von Willebrand disease
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- REVEL: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaLR: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 92 out of 100
- PolyPhen-2: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 89 out of 100
- phyloP: 86 out of 100
Same protein, different disease
- Hereditary von Willebrand disease also has ClinVar records linked to VWF variants; they fall partly in the same places as the Von Willebrand disease variants (26 pathogenic / likely pathogenic).
- Von Willebrand disorder also has ClinVar records linked to VWF variants; they fall partly in the same places as the Von Willebrand disease variants (12 pathogenic / likely pathogenic).
Diseases related to Von Willebrand disease
- Hypertrophic cardiomyopathy, also linked to VWF
- Noonan syndrome, also linked to VWF
- Hereditary von Willebrand disease, also linked to VWF
- Von Willebrand disorder, also linked to VWF
- Thrombotic thrombocytopenic purpura, also linked to VWF
Frequently asked questions
Which genes have records linked to Von Willebrand disease?
This view contains 1 analyzed proteins: VWF. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 112 pathogenic or likely pathogenic variants, 153 variants of uncertain significance and 29 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 2 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 332 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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