Gene:VWF

HGNCID:12726

Case:11 yo female

DiseaseAssertion: Type 2N

FamilyInfo:Fig. 1, family 1, patient 4

ParentalGenotype(s):Unknown, obligate carriers

CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130

CaseHPOFreeRext:Oral cavity and joint bleeding, Bleeding from small wounds and after tooth extraction, VWF:Ag 0.07 U/mL, VWF:Ac 0.08 U/mL, VWF:CB <0.05 U/mL, FVIII 0.01 U/mL, No VWF Multimers

GenotypingMethod: NGS

Gene:VWF

Variant:c.2311A>G

HGVS:NM_000552.5(VWF):c.2311A>G

ClinVarID:1065273

CAID:CA383522481

Gene:VWF

HGNCID:12726

Case:29 yo female

DiseaseAssertion: Type 2N

FamilyInfo:Fig. 1, family 1, patient 1

ParentalGenotype(s):Unknown, obligate carriers

CasePresentingHPOs:HP:0000421, HP:0000132, HP:0012147 HP:0030132, HP:0030130

CaseHPOFreeRext:Skin, GI, muscle, oral cavity, and joint bleeding, VWF: Ag 0.07 U/mL, VWF:Ac 0.08 U/mL, VWF:CB 0.05 U/mL, FVIII 0.02 U/mL, No VWF Multimers

GenotypingMethod: NGS

Gene:VWF

Variant:c.2311A>G

HGVS:NM_000552.5(VWF):c.2311A>G

ClinVarID:1065273

CAID:CA383522481

Gene:VWF

HGNCID:12726

Case:13 yo female

DiseaseAssertion: Type 2N

FamilyInfo:Fig. 1, family 2, patient 7

ParentalGenotype(s):Unknown, obligate carriers

CasePresentingHPOs:HP:0000421, HP:0004846, HP:0012147 HP:0030132, HP:0030130

CaseHPOFreeRext:Oral cavity and joint bleeding, VWF:Ag 0.07 U/mL, VWF:Ac 0 U/mL, VWF:CB 0.05 U/mL, FVIII 0.04 U/mL, No VWF Multimers

GenotypingMethod: NGS

Gene:VWF

Variant:c.2311A>G

HGVS:NM_000552.5(VWF):c.2311A>G

ClinVarID:1065273

CAID:CA383522481

Gene:VWF

HGNCID:12726

Case:27 yo male

DiseaseAssertion: Type 2N

FamilyInfo:Fig. 1, family 1, patient 2

ParentalGenotype(s):Unknown, obligate carriers

CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130

CaseHPOFreeRext:Skin, oral cavity, and joint bleeding, Bleeding after tooth extractions and small wounds, VWF: Ag 0.07 U/mL, VWF:Act 0.05 U/mL, VWF:CB <0.05 U/mL, FVIII:C 0.01 U/mL, Less VWF Multimers

GenotypingMethod: NGS

Gene:VWF

Variant:c.2311A>G

HGVS:NM_000552.5(VWF):c.2311A>G

ClinVarID:1065273

CAID:CA383522481

Gene:VWF

HGNCID:12726

Case:17 yo male

DiseaseAssertion: Type 2N

FamilyInfo:Fig. 1, family 1, patient 3

ParentalGenotype(s):Unknown, obligate carriers

CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130

CaseHPOFreeRext:Oral cavity, skin, and muscle bleeding, Bleeding after tooth extractions, VWF: Ag 0.09 U/mL, VWF:Act 0.05 U/mL, VWF:CB 0.04 U/mL, FVIII:C 0.01 U/mL, No VWF Multimers

GenotypingMethod: NGS

Gene:VWF

Variant:c.2311A>G

HGVS:NM_000552.5(VWF):c.2311A>G

ClinVarID:1065273

CAID:CA383522481