Case#: 01010, Age 55, Male, Blood Type O+ (Table S3)

Disease Assertion:VWD1

FamilyInfo: Not listed

Parental Genotype:Not listed

CasePresentingHPOs:

CaseHPOFreeText: Bleeding score 5, VWF:Ag 27, VWF:RCo: 30, FVIII:C 51, VWF:CB: 32

CaseNotHPOs:

CaseNotHPOFreeText:

Protein Expression:

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

Gene: VWF

Variant:NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys)

ClinVar: 310

ClinVarID

CAID: CA114162

CAID

gnomAD: MAF of 0.004024 (519/128972 alleles) in the European (non-Finnish) population.

gnomAD

Case#: 32005, Age 28, Female, Blood Type O- (Table S3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family# 3205.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: VWF:Ag: 30, VWF:RCo: 25, FVIII:C: 25, VWF:CB: 32

CaseNotHPOs: N/A

CaseNotHPOFreeText: Bleeding Score 4

Protein Expression: N/A

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.

Gene: VWF

Variant: NM_000552.4:c.2546+132G>A (p.=) and NM_000552.4:c.4751A>G (p.Tyr1584Cys)

ClinVar: 310

CAID: CA232299449 and CA114162 CAID1 CAID2

gnomAD: MAF of 0.001179 (1/848 alleles) in the Latino population (CA232299449) gnomAD

MAF of 0.004024 (519/ 128972 alleles) in the European (non-Finnish) population. gnomAD

Case#: 06002, Age 39, Female,Blood Type O+ (Table S3)

Disease Assertion: VWD1

FamilyInfo: Two total members in Family #0602. Patient 06003 has the c.2685G>C variant and a seperate intronic variant.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding score 8, VWF:Ag: 25, VWF:RCo: 19.1, FVIII:C:88, VWF:CB:24

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Protein Expression: N/A

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

Gene: VWF

Variant: NM_000552.4:c.2685G>C (p.Gln895His) and NM_000552.4:c.4751A>G (p.Tyr1584Cys)

ClinVar: 310

ClinVar

CAID: CA383519910 and CA114162

CAID1 CAID2

gnomAD: MAF of 0.004024 (519/128972 alleles) in the European (non-Finnish) population.

gnomAD

Case#: 13014, Age20, Male, Blood type O+ (TableS3)

Disease Assertion: VWD 1

FamilyInfo: The patient is the only member of Family#1311.

Parental Genotype: Not listed

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding Score 6, VWF:Ag:24, VWF:RCo: 22.5, FVIII:C:40, VWF:CB: 20

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Protein Expression: N/A

CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations

Gene: VWF

Variant: NM_000552.4:c.4751A>G (p.Tyr1584Cys)

ClinVar: 310 ClinVar

CAID: CA114162 CAID

gnomAD: MAF of 0.004024 (519/ 128972 alleles) in the European (non-Finnish) population

Case#: MK0251

DiseaseAssertion: Type 2 VWD

CaseHPOFreeText: 51 year old, female, VWF:AG LEVELS = 60

Gene: VWF

Variant: compound heterozygous for 4751A>G (p.Y1584C) and c.7483del (p.Leu2495CysfsTer8) variants

ClinVar: 310 (p.Y1584C) and 631687 (p.Leu2495CysfsTer8)

gnomAD: absent grpmax (p.Leu2495CysfsTer8), grpmax of 0.004019 based on european non finnish pop (p.Y1584C)