. Author manuscript; available in PMC: 2013 Nov 19.

Published in final edited form as: Genet Med. 2011 May;13(5):10.1097/GIM.0b013e3182035931. doi: 10.1097/GIM.0b013e3182035931

Table 3.

VWF Pathologic Allelic Variants

Class of Variant Allele	VWD Type	DNA Nucleotide Change	Protein Amino Acid Change	VWF exon	Reference Sequence
Pathologic^a	1	c.3614G>A	p.Arg1205His	27	NM_000552.3 NP_000543.2
	1	c.4751A>G	p.Tyr1584Cys	28
	2A	c.4517C>T	p.Ser1506Leu	28
	2A	c.4789C>T	p.Arg1597Trp	28
	2B	c. 3797C>T	p.Pro1266Leu	28
	2B	c.3916C>T	p.Arg1306Trp	28
	2B	c.3946G>A	p.Val1316Met	28
	2B	c.4022G>A	p.Arg1341Gln	28
	2M	c.3835G>A	p.Val1279Ile	28
	2M	c.4273A>T	p.Ile1425Phe	28
	2N	c.2372C>T	p.Thr791Met	18
	2N	c.2446C>T	p.Arg816Trp	19
	2N	c.2561G>A	p.Arg854Gln	20
	3	c.2435delC	p.Pro812ArgfsX31	18
	3	c.4975C>T	p.Arg1659X	28
	3	c.7603C>T	p.Arg2535X	45

Nomenclature follows the standard naming conventions of the Human Genome Variation Society⁸¹

Examples of the most frequent variants identified in each VWD type are shown.⁵⁸