Case#: p.I1453N, Male, Age 25, Caucasian

Disease Assertion: VWD2M

FamilyInfo: No affected family members enrolled in study

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: bleeding score 11, VWF:RCo/VWF:Ag ratio 0.55, VWF:Ag 20 IU/dL, VWF:RCo 11 IU/dL,

CaseNotHPOs:HP:0040240

(Increased Ratio of VWF Propeptide to VWF antigen)

CaseNotHPOFreeText: Normal multimer distribution

Protein Expression: N/A

CasePreviousTesting: VWF sequencing

Gene: VWF

Variant: NM_000552.4:c.4358T>A (p.Ile1453Asn)

ClinVar: N/A

CAID: CA383502477

CAID

gnomAD: N/A