Selection process of pathogenic VWF variants and related plasma samples from jMorp. The pathogenicity of the 5857 VWF variants registered in 8.3KJPN was assessed by registration in the database LOVD, in silico analysis of pathogenicity, and genetic aberrations that do not escape pathogenicity. Because some variants matched >1 criterion, the number of variants selected by each criterion was counted in order of “variant type” first, followed by “database,” and then “in silico prediction.” In total, 29 variants were considered pathogenic; and VWF:Rco, VWF:Ag, VWF:pp, and VWF:CB in 43 plasma samples obtained from the carriers of these variants were analyzed, and their relation to phenotype was investigated. CADD, combined annotation dependent depletion; InMeRF, individual meta random forest; PON-P2, Pathogenic-or-Not-Pipeline2.