Case: Row 10 in Supplemental Table 1. Data represents 2 patients from the same family.

DiseaseAssertion: type 2A VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeRext: FVIII:C/VWF:Ag = 1.8 (1.2-2.3); VWFpp/VWF:Ag = 0.8 (0.7-0.8)

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: Genetic analysis was performed at the laboratory of hematology of the Radboud University Medical Center in Nijmegen. Ion semiconductor sequencing (Ion-Torrent) was used to analyze the VWF gene from peripheral blood obtained in EDTA tubes or from saliva samples. The 52 exons of VWF gene were analyzed including ±20 bp exon-intron boundaries. If no VWF gene variant was detected, multiplex ligation-dependent probe amplification (MLPA) analysis was performed to find large deletions or duplications. Thus, MLPA was performed in 183 patients (46.9%). All variants were confirmed with Sanger sequencing.

PreviouslyPublished:

Gene: VWF

Variant: 1607T>C L536P

HGVS: VWF:c.1607T>C p.Leu536Pro

ClinVarID: 627250

CAID:

gnomAD: 0.000003718 (6 in 1613592) no homozygotes https://gnomad.broadinstitute.org/variant/12-6057971-A-G?dataset=gnomad_r4

MultipleGeneVariants:

Gene: VWF

Variant: H1419M fs*22