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

About this overview [Show]

708 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

Legacy numbering Hide Legacy numbering column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein change Hide Protein change column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

Genetic_origin Hide Genetic_origin column Descending
Ascending

Segregation Hide Segregation column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Geographic origin Hide Geographic origin column Descending
Ascending

Functional studies Hide Functional studies column Descending
Ascending

Ethnic origin Hide Ethnic origin column Descending
Ascending

VWD type Hide VWD type column Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending
-_* c.-44001_*35068del
  (Reported 8 times)
- 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 -
-_* c.-?_*?del - 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 -
- c.-3268G>C
  (Reported 2 times)
- 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
- c.-2731C>T
  (Reported 2 times)
- r.? - VWF_00470 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) -
- 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) -
- c.-2709C>T
  (Reported 2 times)
- 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
- c.-2661A>G
  (Reported 2 times)
- 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
- 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) -
- c.-2615A>G
  (Reported 2 times)
- r.? - VWF_00472 - unknown ? James et al., 2007a DNA PCR, SEQ - Canada No - - (not relevant) -
- 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) -
- c.-2527G>A
  (Reported 2 times)
- 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
- c.-2522C>T
  (Reported 4 times)
- r.? - VWF_00627 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada - - - (not relevant) -
- c.-2487G>A - r.? - VWF_00476 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) -
- c.-2328T>G
  (Reported 2 times)
- r.? - VWF_00619 - unknown ? Goodeve et al., 2007 DNA PCR, SEQ - Germany No - - (not relevant) -
- c.-1896C>T - r.? - VWF_00614 - unknown no Goodeve et al., 2007 DNA PCR, SEQ - United Kingdom (Great Britain) No - - (not relevant) -
- c.-1886A>C - r.? - VWF_00473 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) -
- c.-1873A>G - r.? - VWF_00471 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) -
- c.-1665G>C - r.? - VWF_00475 - unknown - James et al., 2007 DNA PCR, SEQ - Canada No - - (not relevant) -
- 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 -
1i c.-64C>T - r.? - VWF_00195 - unknown ? - DNA ? 0.53/0.47 ? (unknown) - - - (not relevant) dbSNP
1i c.-20C>A - r.? - VWF_00194 - unknown ? - DNA ? - Turkey - - - (not relevant) -
1i c.-20C>T - r.? - VWF_00409 - unknown ? - DNA ? 0.99/0.01 France - - - (not relevant) dbSNP
2 c.1A>G - r.? p.(M1?) VWF_00683 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - type 3 -
2 c.55G>A
  (Reported 3 times)
- 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 -
2i c.55+8C>A - r.(?) p.? VWF_00196 - unknown ? - DNA ? 0.99/0.01 France - - - (not relevant) -
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
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
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) -
-_3i c.-30051_220+3465del
  (Reported 12 times)
- 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 -
-_3i c.-30029_220+3487del - r.(?) p.? VWF_00633 - germline (inherited) yes - DNA arrayCGH, PCR, SEQ - United States No - type 3 -
3 c.100C>G
  (Reported 2 times)
- r.(?) p.(R34G) VWF_00566 - germline (inherited) yes - DNA PCR, SEQ - Turkey No - type 3 -
3 c.100C>T
  (Reported 3 times)
- r.(?) p.(R34*) VWF_00410 - unknown ? - DNA SEQ - France - - type 3 -
3 c.139G>C
  (Reported 2 times)
- r.(?) p.(D47H) VWF_00001 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Iran No - type 3 -
3 c.147C>A - r.(?) p.(S49R) VWF_00567 - germline (inherited) yes - DNA PCR, SEQ - Turkey Yes - type 1 -
3 c.171C>A
  (Reported 2 times)
- r.(?) p.(C57*) VWF_00568 - germline (inherited) yes - DNA PCR, SEQ - Turkey No - type 3 -
3 c.191delG
  (Reported 2 times)
- r.(?) p.(G64Afs*19) VWF_00075 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India - - type 3 -
3 c.212C>A
  (Reported 2 times)
- r.(?) p.(S71*) VWF_00478 - germline (inherited) yes Li et al., 1998; Wang et al., 2000 DNA DGGE, PCR - China No - type 3 -
3i c.220+20G>T
  (Reported 2 times)
- r.? p.? VWF_00687 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - - (not relevant) dbSNP
3i c.220+99C>T - r.(?) p.? VWF_00201 - unknown ? - ? ? ? ? (unknown) - - - (not relevant) -
3i_5i c.221-977_c.532+7059del
  (Reported 16 times)
- 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 -
4 c.229C>T - 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 -
4 c.253T>C - 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 -
4 c.257T>A
  (Reported 2 times)
- r.(?) p.(V86E) VWF_00706 - unknown ? Gupta et al., 2005 DNA PCR, SEQ - India No - type 3 -
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 -
4 c.276delT - r.(?) p.(F92Lfs*11) VWF_00089 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Italy No - type 3 -
4 c.276dupT - r.(?) p.(D93*) VWF_00578 - unknown ? - DNA ? - France No - type 2N -
5 c.?
  (Reported 3 times)
- r.(?) p.(L150E) VWF_00541 - unknown ? Zhang et al., 1994 DNA PCR, SEQ - ? (unknown) No - type 3 -
5 c.369G>A - r.(?) p.(E123=) VWF_00202 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) -
5 c.374_387del - r.(?) p.(G125Vfs*3) VWF_00560 - unknown ? Kakela et al., 2006 DNA DHPLC, PCR, SEQ - United States No - type 3 -
5 c.375_376delinsC
  (Reported 2 times)
- r.(?) p.(Y126Tfs*49) VWF_00583 - unknown ? Corrales et al., 2009 DNA PCR, SEQ - ? (unknown) No - type 3 -
5 c.385C>A
  (Reported 3 times)
- r.(?) p.(L129M) VWF_00442 - unknown ? James et al., 2007 DNA PCR, SEQ - Canada No - type 1 -
5 c.390C>T - r.(?) p.(S130=) VWF_00203 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) dbSNP
5 c.391G>A - r.(?) p.(G131S) VWF_00709 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
5 c.421G>A
  (Reported 2 times)
- r.(?) p.(D141N) VWF_00388 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India No - type 3 -
5 c.421G>T - r.(?) p.(D141Y) VWF_00051 - unknown ? Baronciani et al., 2003; Baronciani et al., 2008 DNA PCR, SEQ, SSCA - Italy Yes - type 3 -
5 c.422A>G - r.(?) p.(D141G) VWF_00488 - unknown yes Cumming et al., 2006 DNA PCR, SEQ - United Kingdom (Great Britain) No - type 1 -
5 c.449T>C - r.(?) p.(L150P) VWF_00584 - unknown ? Corrales et al., 2009 DNA PCR, SEQ - ? (unknown) No - type 3 -
5 c.478G>T - r.(?) p.(G160W) VWF_00520 - germline (inherited) yes Goodeve et al., 2007; Eikenboom et al., 2009 DNA PCR, SEQ - Czech Republic Yes - type 1 -
5 c.497A>T - r.(?) p.(N166I) VWF_00521 - germline (inherited) yes Goodeve et al., 2007; Eikenboom et al., 2009 DNA PCR, SEQ - Czech Republic Yes - type 1 -
5i c.532+17T>C - r.(?) p.? VWF_00204 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) -
5i c.532+46_532+48del - r.(?) p.? VWF_00205 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) -
5i_16i c.532+1267_2187-1249del
  (Reported 2 times)
- r.(?) p.(G178Afs*12) VWF_00480 Deletion result of Alu-mediated homologous recombination. germline (inherited) yes Xie et al., 2006 DNA PCR, PCRlr, SEQ - China No - type 3 -
5i c.533-2A>G
  (Reported 2 times)
- r.533_657del p.T179Pfs*31 VWF_00585 - unknown ? Corrales et al., 2011 RNA RT-PCR, SEQ - Spain Yes - type 3 -
-_6i c.-?_657+7928del
  (Reported 2 times)
- r.0? p.? VWF_00673 - unknown ? Ahmad et al., 2013 DNA MLPA, PCR, SEQ - India No - type 3 -
6 c.604C>T - r.(?) p.(R202W) VWF_00693 - germline (inherited) yes Baronciani et al., 2009 DNA PCR, SEQ - Italy Yes - type 2A -
6 c.623G>C - r.(?) p.(S208T) VWF_00206 unknown ? - DNA ? ~0.99/0.01 France No - - (not relevant) -
6 c.652C>T
  (Reported 2 times)
- r.(?) p.(Q218*) VWF_00391 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Iran No - type 3 -
6i c.657+11A>C - r.(?) p.? VWF_00207 unknown ? - DNA ? 0.92/0.08 ? (unknown) No - - (not relevant) dbSNP
7 c.666G>A - r.(?) p.(W222*) VWF_00397 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Italy No - type 3 -
7 c.760_761delTT - r.(?) p.(L254Vfs*2) VWF_00660 - unknown ? Ahmad et al., 2013 DNA PCR, SEQ - India No - type 3 -
7 c.788_811del
  (Reported 2 times)
- r.(?) p.(C263_E270del) VWF_00002 - unknown ? Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Iran No - type 3 -
7 c.813C>A - r.(?) p.(Y271*) VWF_00677 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - type 3 -
7 c.813C>G - r.(?) p.(Y271*) VWF_00637 - germline (inherited) yes Gu et al., 1997 ? ? - China No - type 2N -
7 c.817C>T
  (Reported 8 times)
- r.(?) p.(R273W) VWF_00542 - germline (inherited) yes Allen et al., 2000; Allen et al., 2001; Michaux et al., 2003 DNA CSCE, PCR, SEQ - Turkey Yes - type 2A -
7 c.823T>A - r.(?) p.(C275S) VWF_00011 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003; Baronciani et al., 2008 DNA PCR, SEQ, SSCA - Italy Yes - type 3 -
7 c.823T>C - r.(?) p.(C275R) VWF_00562 - germline (inherited) yes Baronciani et al., 2007 DNA PCR, SEQ - ? (unknown) Yes - type 2A -
7i c.874+1G>A
  (Reported 2 times)
- r.(?) p.(G220Afs*165) VWF_00603 - germline (inherited) yes Gadisseur et al., 2007 DNA PCR, SEQ - Turkey No - type 3 -
7i c.874+2T>C - r.spl? p.? VWF_00741 - unknown ? Jokela et al., 2013 DNA MLPA, PCR, SEQ - Finland No - type 3 -
7i c.874+5G>A
  (Reported 2 times)
- r.spl? p.? VWF_00676 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - type 3 -
8 c.878delC - r.(?) p.(P293Qfs*164) VWF_00678 - unknown ? Bowman et al., 2013 DNA PCR, SEQ - Canada No - type 3 -
8 c.893dupG - r.(?) p.(M299Yfs*4) VWF_00481 - germline (inherited) yes Xie et al., 2007 DNA PCR, SEQ - China No - type 3 -
8 c.954T>A - r.(?) p.(N318K) VWF_00209 unknown ? - DNA ? 0.96/0.04 ? (unknown) No - - (not relevant) dbSNP
8 c.970C>T - r.(?) p.(R324*) VWF_00022 - germline (inherited) yes Schneppenheim et al., 1994 DNA PCR, SEQ, SSCA - Germany No - type 3 -
8 c.971G>A - r.(?) p.(R324Q) VWF_00569 - unknown ? - DNA CSCE, PCR, SEQ - Turkey Yes - type 1 -
8 c.988dupA
  (Reported 2 times)
- r.(?) p.(S330Kfs*4) VWF_00606 - germline (inherited) yes - DNA ? - Netherlands No - type 3 -
8 c.992_993delinsAA - r.(?) p.(C331*) VWF_00629 - unknown ? Sutherland et al., 2009a, Sutherland et al., 2009b DNA PCR, SEQ - United Kingdom (Great Britain) No Caucasian type 3 -
8i c.998-27C>T - r.(?) p.? VWF_00210 - unknown ? - DNA ? 0.93/0.07 ? (unknown) No - - (not relevant) -
9 c.1032G>A - r.(?) p.(E344=) VWF_00211 unknown ? - DNA ? ~0.99/0.01 France No - - (not relevant) -
9 c.1037C>T - r.(?) p.(T346I) VWF_00710 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
9 c.1064A>G - r.(?) p.(K355R) VWF_00652 - unknown ? Ahmad et al., 2013 DNA PCR, SEQ - India No - type 3 -
9 c.1071C>A - r.(?) p.(Y357*) VWF_00543 - germline (inherited) yes Mazurier et al., 2002; Hilbert et al., 2003 DNA PCR, SEQ, SSCA - France No - type 2N -
9 c.1087C>T - r.(?) p.(L363F) VWF_00714 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No Non-Hispanic/Latino - (not relevant) -
9 c.1093C>T
  (Reported 5 times)
- r.(?) p.(R365*) VWF_00030 - germline (inherited) yes Bahnak et al., 1991 DNA PCRdig, SEQ - ? (unknown) No - type 3 -
9i c.1109+2T>C
  (Reported 2 times)
- r.(?) p.? VWF_00536 - germline (inherited) yes Goodeve et al., 2007 DNA PCR, SEQ - Italy No - type 1 -
9i c.1110-73T>A - r.(?) p.? VWF_00212 - unknown ? - DNA ? - ? (unknown) No - - (not relevant) dbSNP
9i c.1110-1G>A
  (Reported 2 times)
- r.(?) p.? VWF_00038 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - Iran No - type 3 -
10 c.1117C>T
  (Reported 3 times)
- r.(?) p.(R373*) VWF_00046 - unknown ? Baronciani et al., 2000; Baronciani et al., 2003 DNA PCR, SEQ, SSCA - India No - type 3 -
10 c.1131G>T
  (Reported 2 times)
- r.(?) p.(W377C) VWF_00050 - germline (inherited) yes Schneppenheim et al., 1994 DNA PCR, SEQ, SSCA - Germany No - type 3 -
11 c.1173A>T - r.(?) p.(T391=) VWF_00213 - unknown ? Sadler & Ginsburg, 1993 DNA ? 0.89/0.11 United States No - - (not relevant) dbSNP
11 c.1182A>C - r.(?) p.(S394=) VWF_00214 - unknown ? Sadler & Ginsburg, 1993 DNA ? 0.90/0.10 United States No - - (not relevant) dbSNP
1 - 100
[<-] 1 2 3 4 5 6 ... [->] [>>]


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.
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


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