Disease: Von Willebrand Disease (VWD)

Patient: 18 yo, Male, heterozygote

Variant: VWF NM_000552.5: c.5456_5842del p.(R1819_C1948delinsS)

Was not present in gnomAD when searched

Dominant negative effect

Phenotypes:

lower collagen-binding capacity

History of bleeding (epistaxis)

gum bleeding

cutaneous bruises

ADAMTS13 resistant

Family: Mother, father, sister are asymptomatic

Suggested as de novo, no picture found in patient's relative of the deletion, loss of A3 loop

Disease: platelet-type von Willebrand disease (PT-VWD)

Patient: 14 yo, Male

Variant: GP1BA NM_000173.7:c.389G>A p.(Arg127Gln), Heterozygous, Gain-of-Function (GOF)

Located in LRR5 domain of GP1BA

Family: Mother did not refer any bleeding symptoms (variant absent in mother) Father not available for collection of clinical history or platelet function testing