BII:3
Proband: FB_II:3, male age unknown
Family details: parents are unaffected heterozygotes, VWF:Ag on the low end of reference range
Labs: prolonged bleeding time (15min), reduced VWF:Ag (0.09 IU/mL), FVIII:Ag (0.33 IU/mL), FVIII:C (0.21 IU/mL), and VWF:RiCoF (0.04 IU/mL), absent multimers
Genotype: p.Arg273Trp reported as c.1067C>T (MANE transcript is 817C>T)
CAID: CA228829
CII:6
Proband: FC_II:6, male age unknown
FamilyDetails: parents are unaffected hets, first cousins, fathers VWF:Ag at very low end of reference
Labs: prolonged bleeding time (>20min), reduced VWF:Ag (less than 0.01 IU/mL), FVIII:Ag (0.06 IU/mL), FVIII:C (0.09 IU/mL), and VWF:RiCoF (less than 0.01 IU/mL), absent multimers
Genotype: p.Arg273Trp reported as c.1067C>T (MANE transcript is 817C>T)
CAID: CA228829
II2
Proband: Mazurier_II2
AgeAtReport: 20yo female
HPO: HP:0000421, HP:0002248, hematoma but did not specify spontaneous and/or frequent
Labs: 4 measurements taken for the same proband so values are a range: FVIII:C 4-10 IU/dL, VWF:Ag 30-53 IU/dL, FVIII:Ag 4-8 IU/dL, VWF:FVIIIB absent
Variant: C1060R - NM_000552.5:c.3178T>C (maternal)
Variant: Y357X - NM_000552.5:c.1071C>A (paternal)
CAID: CA114176
CAID: CA114174