Under construction - original from the ISTH-SSC VWF Online Database
LOVD - Variant listings for VWF

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+/+ -_* c.-44001_*35068del
    + c.-44001_*35068del
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Schneppenheim et al., 1994; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ, Southern - Germany No - type 3 - <1 <5 - 3 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Germany - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.-44001_*35068del
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Schneppenheim et al., 1994; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ, Southern - Germany No - type 3 - <1 <5 - 3 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Germany - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.8012G>A
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Eikenboom et al., 1998; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ - Italy No - type 3 - 2 <3 - 10 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Italy - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.3605delC
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Schneppenheim et al., 2007 DNA PCR, SEQ - Germany No - type 3 - <1 <5 - 2 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Germany - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.-44001_*35068del
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Shelton-Inloes et al., 1987; Ngo et al., 1988; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ, Southern - Italy No - type 3 - <1 <3 - 1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Italy - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.-44001_*35068del
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Shelton-Inloes et al., 1987; Ngo et al., 1988; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ, Southern - Italy No - type 3 - <1 <3 - 1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Italy - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.-44001_*35068del
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Shelton-Inloes et al., 1987; Ngo et al., 1988; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ, Southern - Italy No - type 3 - <1 <3 - 2 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Italy - Sheffield, UK
+/+ -_* c.-44001_*35068del
    + c.-44001_*35068del
- r.0? - VWF_00612 Deletion result of non-homologous recombination. germline (inherited) yes Shelton-Inloes et al., 1987; Ngo et al., 1988; Schneppenheim et al., 2007 DNA PCR, PCRlr, SEQ, Southern - Italy No - type 3 - <1 <3 - 2 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? Italy - Sheffield, UK
+/+? -_* c.-?_*?del
    + c.2878C>T, c.2880G>A
- r.0? p.? VWF_00645 Complete deletion of VWF, but exact breakpoints not identified. unknown yes Acquila et al., 2009 DNA MLPA - Italy No - type 3 - <1 <1 - 2 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Female familial, autosomal recessive no Italy - Sheffield, UK
-?/? - c.-3268G>C
    + c.-2731C>T, c.-2328T>G
- r.? - VWF_00622 Reported frequency of variant in Spanish/Swedish controls. unknown ? Goodeve et al., 2007 DNA PCR, SEQ 0.33/0.67 - (not applicable) No - - (not relevant) dbSNP 58 60 95 93 - - - - 15 Normal Normal satellite bands VWD - - Type 1 - 1 - unknown - Germany - Sheffield, UK
-?/? - c.-3268G>C - r.? - VWF_00622 Reported frequency of variant in 26 screened chromosomes. unknown ? Zhang et al., 1994 DNA PCR, SEQ 0.58/0.42 - (not applicable) No - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-?/? - c.-2731C>T
    + c.385C>A
- r.? - VWF_00470 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) - 31 39 - 104 - - - - - ? (unknown) ? (unknown) VWD - - Type 1 - 1 - unknown ? Canada - Sheffield, UK
-?/? - c.-2731C>T
    + c.-3268G>C, c.-2328T>G
- r.? - VWF_00470 Identified in 1/200 screened control alleles. unknown ? Goodeve et al., 2007 DNA PCR, SEQ 0.995/0.005 - (not applicable) No - - (not relevant) - 58 60 95 93 - - - - 15 Normal Normal satellite bands VWD - - Type 1 - 1 - unknown - Germany - Sheffield, UK
-?/? - c.-2715G>A - r.? - VWF_00616 Variant presumed to be a polymorphism as it did not segregate with disease phenotype. unknown ? Cumming et al., 2006 DNA PCR, SEQ - United Kingdom (Great Britain) No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - United Kingdom (Great Britain) - Sheffield, UK
-/? - c.-2709C>T - r.? - VWF_00626 Reported frequency of variant in 200 screened chromosomes. unknown ? Zhang et al., 1994 DNA PCR, SEQ 0.29/0.71 - (not applicable) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-/? - c.-2709C>T - r.? - VWF_00626 Reported frequency of variant in Spanish/Swedish controls. unknown ? - DNA PCR, SEQ 0.32/0.68 - (not applicable) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-/? - c.-2661A>G - r.? - VWF_00625 Reported frequency of variant in 200 screened chromosomes. unknown ? Zhang et al., 1994 DNA PCR, SEQ 0.29/0.71 - (not applicable) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-/? - c.-2661A>G - r.? - VWF_00625 Reported frequency of variant in Spanish/Swedish controls. unknown ? - DNA PCR, SEQ 0.32/0.68 - (not applicable) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-?/? - c.-2641G>A - r.? - VWF_00615 Variant presumed to be a polymorphism as it did not segregate with disease phenotype. unknown ? Cumming et al., 2006 DNA PCR, SEQ - United Kingdom (Great Britain) No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - United Kingdom (Great Britain) - Sheffield, UK
-?/? - c.-2615A>G
    + c.3686_3692conNG_001212.3:g.6417_6423, c.3797_3835conNG_001212.3:g.6528_6566
- r.? - VWF_00472 - unknown ? James et al., 2007a DNA PCR, SEQ - Canada No - - (not relevant) - 41 40 - 50 - - - - - Normal Normal satellite bands Type 1 VWD - - - - 1 - unknown ? Canada - Sheffield, UK
-?/? - c.-2615A>G - r.? - VWF_00472 Identified in 1/200 screened control alleles. unknown ? Unpublished DNA PCR, SEQ 0.995/0.005 - (not applicable) No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - ? (unknown) - Sheffield, UK
-?/? - c.-2535G>A - r.? - VWF_00617 Variant presumed to be a polymorphism as it did not segregate with disease phenotype. unknown ? Cumming et al., 2006 DNA PCR, SEQ - United Kingdom (Great Britain) No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - United Kingdom (Great Britain) - Sheffield, UK
-/? - c.-2527G>A - r.? - VWF_00628 Reported frequency of variant in 200 screened chromosomes. unknown ? Zhang et al., 1994 DNA PCR, SEQ 0.29/0.71 - (not applicable) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-/? - c.-2527G>A - r.? - VWF_00628 Reported frequency of variant in Spanish/Swedish controls. unknown ? - DNA PCR, SEQ 0.32/0.68 - (not applicable) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
+?/? - c.-2522C>T - r.? - VWF_00627 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - Canada - Sheffield, UK
-/? - c.-2522C>T - r.? - VWF_00627 Reported frequency of variant in Danish/Spanish/Swedish controls. unknown ? Goodeve et al., 2007 DNA PCR, SEQ 0.96/0.04 - (not applicable) - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - - (not applicable) - Sheffield, UK
-/? - c.-2522C>T - r.? - VWF_00627 - unknown ? Cumming et al., 2006 DNA PCR, SEQ 0.96/0.04 United Kingdom (Great Britain) - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - United Kingdom (Great Britain) - Sheffield, UK
?/-? - c.-2522C>T
    + c.3686_3692conNG_001212.3:g.6417_6423, c.4751A>G
- r.? - VWF_00627 - unknown ? James et al., 2007a DNA PCR, SEQ - Canada No - - (not relevant) - 28 23 - 33 - - - - - Normal Normal satellite bands Type 1 VWD - - - - 1 - unknown ? Canada - Sheffield, UK
-?/? - c.-2487G>A
    + c.-1886A>C
- r.? - VWF_00476 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - Canada - Sheffield, UK
-?/? - c.-2328T>G
    + c.-3268G>C, c.-2731C>T
- r.? - VWF_00619 - unknown ? Goodeve et al., 2007 DNA PCR, SEQ - Germany No - - (not relevant) - 58 60 95 93 - - - - 15 Normal Normal satellite bands VWD - - Type 1 - 1 - unknown - Germany - Sheffield, UK
-?/? - c.-2328T>G
    + c.2220G>A, c.3379+7A>C, c.3539-49C>T, c.3539-33G>A, c.4413dupC, c.5620+40delA, c.6554G>A, c.6902-5T>A, c.8419_8422dup
- r.? - VWF_00619 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - - (not relevant) - 3 1 - 9 - - - - 7 ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown ? Canada - Sheffield, UK
-?/-? - c.-1896C>T - r.? - VWF_00614 - unknown no Goodeve et al., 2007 DNA PCR, SEQ - United Kingdom (Great Britain) No - - (not relevant) - 43 48 69 75 - - - - -1 Normal Normal satellite bands - - - - - 1 - unknown - United Kingdom (Great Britain) - Sheffield, UK
-?/? - c.-1886A>C
    + c.-2487G>A
- r.? - VWF_00473 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - Canada - Sheffield, UK
-?/? - c.-1873A>G - r.? - VWF_00471 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - Canada - Sheffield, UK
-?/? - c.-1665G>C - r.? - VWF_00475 - unknown - James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) - - - - - - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - Canada - Sheffield, UK
+/+ - c.-1522_-1510del - r.? - VWF_00474 Shown to disrupt transcription factor binding and consequently reduce VWF expression. unknown yes James et al., 2007; Othman et al., 2010 DNA PCR, SEQ - Canada Yes - type 1 - 49 35 - 92 - - - - - ? (unknown) ? (unknown) VWD - - Type 1 - 1 - familial, autosomal dominant - Canada - Sheffield, UK
-/? 1i c.-64C>T - r.? - VWF_00195 - unknown ? - DNA ? 0.53/0.47 ? (unknown) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - ? (unknown) - Sheffield, UK
-/? 1i c.-20C>A - r.? - VWF_00194 - unknown ? - DNA ? - Turkey - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - Turkey - Sheffield, UK
-/? 1i c.-20C>T - r.? - VWF_00409 - unknown ? - DNA ? 0.99/0.01 France - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - France - Sheffield, UK
+/+? 2 c.1A>G
    + c.2377C>T
- r.? p.(M1?) VWF_00683 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - type 3 - 1 2 - 1 - - - - 3 ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown ? Canada - Sheffield, UK
+?/? 2 c.55G>A - r.(?) p.(G19R) VWF_00519 Amino acid change results in normal VWF expression when expressed in vitro. germline (inherited) ? Goodeve et al., 2007; Eikenboom et al., 2009 DNA PCR, SEQ - Netherlands Yes - type 1 - 30 20 20 80 - - - - 14 Normal Normal satellite bands VWD - - Type 1 - 1 Female unknown ? Netherlands - Sheffield, UK
+/+? 2 c.55G>A
    + c.7558C>T, c.8159delA
- r.(?) p.(G19R) VWF_00519 - unknown ? Ahmad et al., 2013 DNA PCR, SEQ - India No - type 3 - 1 3 - <1 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown no India - Sheffield, UK
+/+? 2 c.55G>A
    + c.6131G>A, c.7471T>C
- r.(?) p.(G19R) VWF_00519 - unknown ? Ahmad et al., 2013 DNA PCR, SEQ - India No - type 3 - 2 5 - 2 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown no India - Sheffield, UK
-/? 2i c.55+8C>A - r.(?) p.? VWF_00196 - unknown ? - DNA ? 0.99/0.01 France - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - France - Sheffield, UK
-/? 2i c.56-518T>C - r.(?) p.? VWF_00200 unknown ? Strain et al., 1991 DNA PCR 0.34/0.66 United Kingdom (Great Britain) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - United Kingdom (Great Britain) - Sheffield, UK
-/? 2i c.56-319T>C - r.(?) p.? VWF_00197 - unknown ? Strain et al., 1991 DNA PCR 0.34/0.66 United Kingdom (Great Britain) - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - United Kingdom (Great Britain) - Sheffield, UK
-/? 2i c.56-40C>T - r.(?) p.? VWF_00199 Frequency based on index case data only. unknown ? James et al., 2007 DNA PCR, SEQ ~0.99/0.01 Canada - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - Canada - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.-30051_220+3465del
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - <1 - <1 2 - - - - 12 Absent - VWD - - Type 3 - 1 Male unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.5692C>T
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - 1 - 1 1 - - - - 20 Absent - VWD - - Type 3 - 1 Female unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.2435delC
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - <1 - 1 10 - - - - 23 Absent - VWD - - Type 3 - 1 Female unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.-30051_220+3465del
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - 1 - 1 1 - - - - 26 Absent - VWD - - Type 3 - 1 Female unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.-30051_220+3465del
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - 1 - 1 1 - - - - 19 Absent - VWD - - Type 3 - 1 Male unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.-30051_220+3465del
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - 1 - 1 3 - - - - 29 Absent - VWD - - Type 3 - 1 Female unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30051_220+3465del
    + c.-30051_220+3465del
- r.(?) p.? VWF_00632 Deletion result of Alu-mediated homologous recombination and not associated with inhibitory antibody formation to VWF. unknown ? Mohl et al., 2008; Mohl et al., 2011 DNA PCR, PCRlr, SEQ - Hungary No - type 3 - 1 - 1 1 - - - - 28 Absent - VWD - - Type 3 - 1 Male unknown ? Hungary - Sheffield, UK
+/+? -_3i c.-30029_220+3487del
    + c.221-977_c.532+7059del
- r.(?) p.? VWF_00633 - germline (inherited) yes - DNA arrayCGH, PCR, SEQ - United States No - type 3 - <1 <10 <1 2 - - - - 18 Absent - VWD - - Type 3 2 1 - familial, autosomal recessive ? United States - United States:Milwaukee
+/+? 3 c.100C>G
    + c.100C>G
- r.(?) p.(R34G) VWF_00566 - germline (inherited) yes - DNA PCR, SEQ - Turkey No - type 3 - 2 <3 - 1 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - familial, autosomal recessive yes Turkey - Sheffield, UK
+/? 3 c.100C>T - r.(?) p.(R34*) VWF_00410 - unknown ? - DNA SEQ - France - - type 3 - - - - - - - - - - absent HMW Reduced/absent satellite bands VWD - - Type 3 1/1 1 - - - - - Boisseau P. (CRMW, France) unpublished, France:Nantes
+/+? 3 c.100C>T
    + c.100C>T
- r.(?) p.(R34*) VWF_00410 - unknown ? Corrales et al., 2009 DNA PCR, SEQ - ? (unknown) No - type 3 - 1 1 - 1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive no ? (unknown) - Sheffield, UK
+/+? 3 c.100C>T
    + c.100C>T
- r.(?) p.(R34*) VWF_00410 - unknown ? Corrales et al., 2009 DNA PCR, SEQ - ? (unknown) No - type 3 - 1 1 - 1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive no ? (unknown) - Sheffield, UK
+/+? 3 c.139G>C
    + c.139G>C
- r.(?) p.(D47H) VWF_00001 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Iran No - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown ? Iran - Sheffield, UK
+/+? 3 c.139G>C
    + c.139G>C
- r.(?) p.(D47H) VWF_00001 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Iran No - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown ? Iran - Sheffield, UK
+?/+? 3 c.147C>A - r.(?) p.(S49R) VWF_00567 - germline (inherited) yes - DNA PCR, SEQ - Turkey Yes - type 1 - 58 - - - - - - - - Normal Normal satellite bands VWD - - Type 1 - 1 - familial, autosomal dominant no Turkey - Sheffield, UK
+/+? 3 c.171C>A
    + c.171C>A
- r.(?) p.(C57*) VWF_00568 - germline (inherited) yes - DNA PCR, SEQ - Turkey No - type 3 - <1 3 - 2 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - familial, autosomal recessive yes Turkey - Sheffield, UK
+/+? 3 c.191delG
    + c.191delG
- r.(?) p.(G64Afs*19) VWF_00075 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India - - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Female unknown ? India - Sheffield, UK
+/+? 3 c.191delG
    + c.191delG
- r.(?) p.(G64Afs*19) VWF_00075 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India - - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Female unknown ? India - Sheffield, UK
+/+? 3 c.212C>A
    + c.212C>A
- r.(?) p.(S71*) VWF_00478 - germline (inherited) yes Li et al., 1998; Wang et al., 2000 DNA DGGE, PCR - China No - type 3 - - - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - familial, autosomal recessive ? China - Sheffield, UK
-?/-? 3i c.220+20G>T
    + c.220+20G>T, c.6709T>C, c.6709T>C
- r.? p.? VWF_00687 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - - (not relevant) dbSNP 2 2 - 4 - - - - 10 ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown ? Canada - Sheffield, UK
-/? 3i c.220+99C>T - r.(?) p.? VWF_00201 - unknown ? - ? ? ? ? (unknown) - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - ? (unknown) - Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del
    + c.1682_1722dup
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. germline (inherited) yes Sutherland et al., 2009; Bellissimo ASH 2011 DNA SEQ - United States Yes Caucasian type 3 - <1 <10 <1 5 - - - - 15 Absent - VWD - - Type 3 2 1 - familial, autosomal recessive ? United States - United States:Milwaukee
+/+? 3i_5i c.221-977_c.532+7059del
    + c.-30029_220+3487del
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. germline (inherited) yes Sutherland et al., 2009; Bellissimo ASH 2011 DNA SEQ - United States Yes Caucasian type 3 - <1 <10 <1 2 - - - - 18 Absent - VWD - - Type 3 2 1 - familial, autosomal recessive ? United States - United States:Milwaukee
+/+? 3i_5i c.221-977_c.532+7059del
    + c.992_993delinsAA
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009a; Sutherland et al., 2009b DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - - - - - - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del - r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009a; Sutherland et al., 2009b DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - 4 - - 19 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del
    + c.6397_6410del
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009a; Sutherland et al., 2009b DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - <1 - - <1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del
    + c.7182T>G
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009a; Sutherland et al., 2009b DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - 3 - - 13 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del
    + c.221-977_c.532+7059del
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009a; Sutherland et al., 2009b DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - - - - 1 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del
    + c.221-977_c.532+7059del
- r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009a; Sutherland et al., 2009b DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - - - - 2 - - - - - Absent Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del - r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009 DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 3 - - - - 2 - - - - - Increased dimer Reduced/absent satellite bands VWD - - Type 3 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del - r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009 DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 1 - 41 43 - 89 - - - - - Normal Normal satellite bands VWD - - Type 1 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del - r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009 DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 1 - 20 28 - 89 - - - - - Normal Normal satellite bands VWD - - Type 1 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del - r.(?) p.(D75_G178del) VWF_00415 Deletion result of Alu-mediated homologous recombination and is not associated with inhibitory antibody formation to VWF. unknown ? Sutherland et al., 2009 DNA PCR - United Kingdom (Great Britain) Yes Caucasian type 1 - 15 11 - 90 - - - - - Normal Normal satellite bands VWD - - Type 1 - 1 - unknown ? United Kingdom (Great Britain) Caucasian Sheffield, UK
+/+? 3i_5i c.221-977_c.532+7059del
    + c.221-977_c.532+7059del
- r.(?) p.(D75_G178del) VWF_00415 - unknown ? Bowman et al., 2013 DNA MLPA, PCR - Canada No - type 3 - 1 2 - 2 - - - - 19 ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown ? Canada - Sheffield, UK
+/+ 4 c.229C>T
    + c.1534-3C>A
- r.[=, 229c>u] p.[=, Q77*] VWF_00699 - germline (inherited) yes Eikenboom et al., 1998; Castaman et al., 2010b DNA, RNA PCR, RT-PCR, SEQ - Italy Yes - type 1 - 7 6 - 20 - - - - - ? (unknown) Diffuse satellite bands VWD - - Type 1 - 1 Female familial, autosomal recessive no Italy - Sheffield, UK
+/+? 4 c.253T>C
    + c.2435delC, c.5170+10C>T
- r.(?) p.(S85P) VWF_00384 c.5170+10C>T found on the same allele. unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Italy No - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Female unknown ? Italy - Sheffield, UK
+/+? 4 c.257T>A
    + c.3835_4105conNG_001212.3:g.6566_6836
- r.(?) p.(V86E) VWF_00706 - unknown ? Gupta et al., 2005 DNA PCR, SEQ - India No - type 3 - 3 2 1 - - - - - - Absent ? (unknown) VWD - - Type 3 - 1 - unknown ? India - Sheffield, UK
+/+? 4 c.257T>A
    + c.3835_4105conNG_001212.3:g.6566_6836
- r.(?) p.(V86E) VWF_00706 - unknown ? Gupta et al., 2005 DNA PCR, SEQ - India No - type 3 - 2 3 3 - - - - - - Absent ? (unknown) VWD - - Type 3 - 1 - unknown ? India - Sheffield, UK
+/+ 4 c.260A>C - r.260a>c p.Y87S VWF_00242 - germline (inherited) yes Rosenberg et al., 2002 DNA RT-PCR, SEQ - United States Yes - type 1 - - - - - - - - - - Increased dimer Normal satellite bands VWD - - Type 1 - 1 - familial, autosomal dominant ? United States - Sheffield, UK
+/+? 4 c.276delT
    + c.2157delA
- r.(?) p.(F92Lfs*11) VWF_00089 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Italy No - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Female unknown ? Italy - Sheffield, UK
+/+? 4 c.276dupT
    + c.2363G>A
- r.(?) p.(D93*) VWF_00578 - unknown ? - DNA ? - France No - type 2N - 23 - - 3 - - - - - ? (unknown) Diffuse satellite bands VWD - - Type 2N - 1 - unknown ? France - Sheffield, UK
+/+? 5 c.?
    + c.3943C>T
- r.(?) p.(L150E) VWF_00541 - unknown ? Zhang et al., 1994 DNA PCR, SEQ - ? (unknown) No - type 3 - - - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - unknown ? ? (unknown) - Sheffield, UK
-/-? 5 c.369G>A - r.(?) p.(E123=) VWF_00202 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) - - - - - - - - - - - - - - - - - 1 - - - France - Sheffield, UK
+/+? 5 c.374_387del - r.(?) p.(G125Vfs*3) VWF_00560 - unknown ? Kakela et al., 2006 DNA DHPLC, PCR, SEQ - United States No - type 3 - - - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - unknown ? United States - Sheffield, UK
+?/+? 5 c.375_376delinsC
    + c.375_376delinsC, c.4146G>T, c.4146G>T, c.6197A>G, c.6197A>G
- r.(?) p.(Y126Tfs*49) VWF_00583 - unknown ? Corrales et al., 2009 DNA PCR, SEQ - ? (unknown) No - type 3 - 6 9 - 1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - unknown yes ? (unknown) - Sheffield, UK
+?/+? 5 c.375_376delinsC
    + c.375_376delinsC, c.4146G>T, c.4146G>T, c.6197A>G, c.6197A>G
- r.(?) p.(Y126Tfs*49) VWF_00583 - unknown ? Corrales et al., 2009 DNA PCR, SEQ - ? (unknown) No - type 3 - 6 9 - 1 - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 - unknown yes ? (unknown) - Sheffield, UK
+/+? 5 c.385C>A
    + c.-2731C>T
- r.(?) p.(L129M) VWF_00442 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - type 1 - 31 39 - 104 - - - - - ? (unknown) ? (unknown) VWD - - Type 1 - 1 - unknown ? Canada - Sheffield, UK
+/+? 5 c.385C>A
    + c.813C>A
- r.(?) p.(L129M) VWF_00442 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - type 3 - 1 4 - 2 - - - - 21 ? (unknown) ? (unknown) VWD - - Type 3 - 1 Female unknown ? Canada - Sheffield, UK
-?/? 5 c.385C>A - r.(?) p.(L129M) VWF_00442 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) - 233 225 266 143 - - - - 1 Normal ? (unknown) - - - - - 1 - unknown - United States African American United States:Milwaukee
-/-? 5 c.390C>T - r.(?) p.(S130=) VWF_00203 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) dbSNP - - - - - - - - - - - - - - - - 1 - - - France - Sheffield, UK
-?/? 5 c.391G>A - r.(?) p.(G131S) VWF_00709 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) - 135 112 140 120 - - - - - ? (unknown) ? (unknown) - - - - - 1 - unknown - United States - United States:Milwaukee
+/+? 5 c.421G>A
    + c.421G>A
- r.(?) p.(D141N) VWF_00388 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India No - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown yes India - Sheffield, UK
+/+? 5 c.421G>A
    + c.421G>A
- r.(?) p.(D141N) VWF_00388 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India No - type 3 - <1 - - - - - - - - ? (unknown) ? (unknown) VWD - - Type 3 - 1 Male unknown yes India - Sheffield, UK
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Under construction - original from the ISTH-SSC VWF Online Database

Legend: [ VWF full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering DNA change: DNA change = description of variant at DNA level, based on a coding DNA reference sequence, following HGVS recommendations; e.g. c.123C>T Legacy numbering: Legacy numbering = variant as reported originally (e.g. 521delT); listed only when different from "Variant/DNA" RNA change: RNA change = description of variant at RNA level, following HGVS recommendations; e.g. r.123c>u, r.? = unknown, r.(?) = RNA not analysed but probably directly transcribed copy of DNA variant, r.spl? = RNA not analysed but variant probably affects splicing Protein change: Protein change = description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) VWF DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Genetic_origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: Reference Template: Template Technique: Technique Frequency: Frequency Geographic origin: Geographic origin of patient Functional studies: Functional studies Ethnic origin: Ethnic origin of patient VWD type: VWD type dbSNP: dbSNP = ID variant in dbSNP VWF:Ag: VWF:Ag (in IU/dL) (to nearest integer) VWF:Rco: VWF:RCo (in IU/dL) (to nearest integer) VWF:CB: VWF:CB (in IU/dL) (to nearest integer) FVIII:C: FVIII:C (in IU/dL) (to nearest integer) FIX:Ag: FIX:Ag (in IU/dL) (to nearest integer) FIX:C: FIX:C (in IU/dL) (to nearest integer) FVII:Ag: FVII:Ag (in IU/dL) (to the nearest integer) FVII:C: FVII:C (in IU/dL) (to the nearest integer) BS: BS (to nearest integer) Multimer profile - low res: Multimer profile, low resolution Multimer profile - high res: Multimer profile, high resolution Disease: Disease Diagnostic enzyme: Diagnostic enzyme Tissue factor type: Tissue factor type Phenotype/Additional: Phenotype/Additional Affecteds/Ind-Fam: Affecteds # Reported: Number of times this case has been reported Gender: Patient gender Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Submitter: Reference


Under construction - original from the ISTH-SSC VWF Online Database