Case: P85, Chinese, female, 29yo

DiseaseAssertion: VWD2N

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147

(Reduced quantity of VWF)

CaseHPOFreeText: type B blood, bleeding score = 2; VWF:Ag (%) = 11.0, VWF:RCo (%) = 10.9, FVIII:C (%) = 6.5, VWF:CB (%) = 11.3, VWFpp (%) = 11.0, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.0, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 0.6, VWF: FVIIIB (%) = 0.0

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant 1: c.855G>A (p.Trp285Ter)

HGVS: NM_000552.5:c.855G>A (p.Trp285Ter)

ClinVarID: NA

CAID: CA383508140; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383508140

gnomAD: absent

Variant 2: c.2574C>G (p.Cys858Trp)

HGVS: NM_000552.5:c.2574C>G (p.Cys858Trp)

ClinVarID: NA

CAID: CA232299278; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232299278

gnomAD: MAF = 0.0001002 (2/19954 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6143965-G-C

Case: P43, Chinese, male, 7yo

DiseaseAssertion: VWD2N

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147

(Reduced quantity of VWF)

CaseHPOFreeText: type B blood, bleeding score = 3; VWF:Ag (%) = 48.8, VWF:RCo (%) = 49.9, FVIII:C (%) = 6.4, VWF:CB (%) = 63.9, VWFpp (%) = 52.4, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 1.3, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 0.1, VWF: FVIIIB (%) = 0.0

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: NA

GenotypingMethod: NGS

PreviouslyPublished: NA

Gene: VWF

Variant 1: c.2372C>T (p.Thr791Met)

HGVS: NM_000552.4(VWF):c.2372C>T (p.Thr791Met)

ClinVarID: 294; https://www.ncbi.nlm.nih.gov/clinvar/variation/294/

CAID: NA

gnomAD: MAF = 0.00003984 (1/25100 alleles) in European (Finnish) population; https://gnomad.broadinstitute.org/variant/12-6153527-G-A?dataset=gnomad_r2_1

Variant 2: c.2574C>G (p.Cys858Trp)

HGVS: NM_000552.5:c.2574C>G (p.Cys858Trp)

ClinVarID: NA

CAID: CA232299278; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232299278

gnomAD: MAF = 0.0001002 (2/19954 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6143965-G-C

Case: P5 Female, Korean, 31 years at report

DiseaseAssertion: VWD2A

FamilyInfo: Positive family history, no details provided.

ParentalGenotype: NA

CasePresentingHPOs: HP:0030129, HP:0012147, HP:0030132, HP:0011871

(Impaired ristocetin cofactor assay activity, Reduced quantity of VWF, Absence of large von Willebrand factor multimers, Impaired RIPA)

CaseHPOFreeText: bleeding score 9, FVII:C 3%, VWF:Rco 4 IU/dL, VWF:Ag 14 IU/Dl, VWF:Rco/VWF:Ag 0.3, RIPA 1 ohms

CaseNotHPOs: HP:0003645, HP:0001873

(Prolonged partial thromboplastin time, Thrombocytopenia)

CaseNotHPOFreeText: aPTT 36s, platelets 210x10^9/L

CasePreviousTesting: NA

GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

Gene: VWF

Variant: c.2574C>G p.C858W

HGVS: NM_000552.4:c.2574C>G (p.Cys858Trp)

ClinVar: NA

CAID: CA232299278

gnomAD: MAF of 0.0001002 (2/19954 alleles) in the East Asian population

https://gnomad.broadinstitute.org/variant/12-6143965-G-C