Case: P5, male, 73yo

DiseaseAssertion: VWD2M

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147, HP:0030129, HP:0030130

(Reduced quantity of VWF, Impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity)

CaseHPOFreeText: bleeding score = 8; VWF:Ag (%) = 46, VWF:RCo(%) = 8.5, VWF:RCo/VWF:Ag ratio = 0.18, VWF:CIIIB (%) = 19.5, VWF:CIIIB/VWF:Ag ratio = 0.4, VWF:CVIB (%) = 15, VWF:CVIB/VWF:Ag ratio = 0.33

CaseNOTHPOs: HP:0030132

(Absence of large von Willebrand factor multimers)

CaseNOTHPOFreeText: NA

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant: c.4121G>A (p.Arg1374His)

HGVS: NM_000552.4(VWF):c.4121G>A (p.Arg1374His)

ClinVarID: 100330; https://www.ncbi.nlm.nih.gov/clinvar/variation/100330/

CAID:

gnomAD: absent