Number of different variants types found in the VWD type 2 Milan cohort. Eighty-two unique variants, including 8 novel variants, were identified. The most frequent type of variant identified was missense substitution (n = 64; 78%), followed by gene conversions (n = 10; 12%), synonymous variants (n = 1; 1.5%), splice variants (n = 3; 3.5%), and deletions (n = 4, 5%). Of 4 different small deletions detected, 1 was out of frame and was found in type 2A(IIC) (c.1092_1093delTC/c.1583A>G, p.Asp366Leufs*16/p.Asn528Ser), and 3 were in frame, 1 in type 2A(IIA) (c.4606_4611delCACGTC, p.His1536_Val1537del)⁵²  and 2 in type 2M (c.4222_4224delAAG, p.Lys1408del and c.3831_3833delCCT, p.Asp1277_Leu1278delinsGlu).