TABLE 5.

Null variants in multiple families displaying variable phenotypic heterogeneity

SV	Family #	Phen Dx	Age/Gender	VWF:Ag	VWF:Rco	ABO	ISTH BS
p. Arg575Thrfs*16	ZL 046	Low VWF	29/M	36	33	O	0
	ZN 009	Type 1H	61/F	81	83	A	11
Exon 4–5 Deletion	ZU 029	Normal	62/M	99	83	A	0
	ZA 048	Normal	31/M	59	58	A	0
	ZN 009	Type 1	64/M	30	NA	NA	0
Exon 18 Deletion	ZF 003	Normal	62/M	73	57	O	0
	ZL 025	Normal	44/F	67	74	O	0
p. Pro812Argfs*31	ZM 086	Normal	23/F	56	63	O	0
	ZN 018	Low VWF	67/M	42	45	O	3
p. Met814Hisfs*5	ZS 005	Low VWF	33/F	61	51	A	4
	ZU 034	Type 1	49/M	28	37	O	0
	ZM 002	Type 1H	44/M	73	77	A	1
	ZM 068	Low VWF	59/F	54	40	A	6
p. Arg1659*	ZO 012	Low VWF	48/M	43	45	O	0
	ZN 138	Low VWF	51/F	44	34	O	0
	ZS 005	Low VWF	37/M	59	52	NA	0
p. Arg1853*	ZT 001	Normal	68/M	91	77	B	0
	ZO 009	Type 1	42/F	29	30	A	8
	ZO 009	Low VWF	64/M	32	42	O	1
p. Arg2535*	ZU 001	Type 1	3/M	16	21	O	6
	ZU 001	Type 1	5/M	21	27	O	5
	ZU 001	Low VWF	16/M	51	52	O	7
	ZI 002	Normal	65/F	62	63	A	4
c.7730-2del	ZA 003	Low VWF	38/U	56	39	AB	6
	ZG 004	Normal	33/F	100	95	A	1

Note: VWF antigen (VWF:Ag), VWF ristocetin cofactor activity (VWF:RCo), blood type (ABO) and bleeding score (ISTH BS) obtained at time of study entry.

Abbreviations: Age, age at enrollment; F, Female; M, Male; Phen Dx, Phenotypic diagnosis; SV, VWF Sequence Variant; U, Unknown; NA, lab values not available.