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

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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362 entries
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Exon Hide Exon column Descending
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Variant remarks Hide Variant remarks column Descending
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VWD type Hide VWD type column Descending
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- 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 3 times)
- 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) -
- 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) -
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
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.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) -
5 c.369G>A - r.(?) p.(E123=) VWF_00202 unknown ? - DNA ? ~0.99/0.01 France - - - (not relevant) -
5 c.385C>A - r.(?) p.(L129M) VWF_00442 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
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) -
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) -
6 c.623G>C - r.(?) p.(S208T) VWF_00206 unknown ? - DNA ? ~0.99/0.01 France No - - (not relevant) -
6i c.657+11A>C - r.(?) p.? VWF_00207 unknown ? - DNA ? 0.92/0.08 ? (unknown) No - - (not relevant) dbSNP
8 c.954T>A - r.(?) p.(N318K) VWF_00209 unknown ? - DNA ? 0.96/0.04 ? (unknown) No - - (not relevant) dbSNP
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.1087C>T - r.(?) p.(L363F) VWF_00714 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No Non-Hispanic/Latino - (not relevant) -
9i c.1110-73T>A - r.(?) p.? VWF_00212 - unknown ? - DNA ? - ? (unknown) No - - (not relevant) dbSNP
? c.?
  (Reported 2 times)
Not determined r.(?) - VWF_00086 Deletion Ex 17-18, Southern blotting suggests deletion ~8.5 kb in size, the breakpoints occurring in int 16 & int 18. Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. G├╝rsel, Turkey. unknown - Unpublished DNA SEQ - Turkey 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
12 c.1306C>T - r.(?) p.(R436C) VWF_00715 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
12 c.1411G>A
  (Reported 2 times)
9/212 r.(?) V/I471 VWF_00215 UCSC & Ensembl seq differs to Mancuso seq at this location. - - Sadler & Ginsburg, 1993 DNA SEQ 0.93/0.07 American, North - - - -
13 c.1451A>G
  (Reported 3 times)
10/142 r.(?) H/R484 VWF_00216 UCSC & Ensembl seq differs to Mancuso seq at this location. - - Sadler & Ginsburg, 1993 DNA SEQ ? ? - - - -
13 c.1463C>G - r.(?) p.(A488G) VWF_00716 - unknown - Bellissimo at al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
13 c.1533+15G>A - r.(?) p.(=) VWF_00586 - unknown - Unpublished DNA SEQ - Spain No - Type 1 -
13i c.1533+31G>C 10/255 r.(?) p.= VWF_00217 - - unpublished DNA SEQ ~0.99/0.01 France - - - -
14 c.1534-3C>A L512PfsX11 r.(?) p.(=) VWF_00095 Mutation associated with a normal multimer pattern. Consequence of mutation previously reported by Eikenboom et al., 1998. unknown - Goodeve et al. 2007 DNA SEQ - Europe No - Type 1 -
14 c.1548T>C
  (Reported 8 times)
11/41 r.(?) Y516 VWF_00218 UCSC & Ensembl seq differs to Mancuso seq at this location. - - Kunkel et al., 1991 DNA SEQ 0.76/0.24 American, North - Caucasian - -
14 c.1573G>A
  (Reported 2 times)
G525R r.(?) p.(Gly525Arg) VWF_00579 VWF:Ag 1%, VWF:RCo 5%, FVIII:C 2%. Patient homozygous. unknown - Unpublished DNA SEQ - Turkey No - Type 3 -
14 c.1614C>T 11/107 r.(?) P538 VWF_00219 - - unpublished DNA SEQ ~0.99/0.01 France - - - -
14 c.1626G>A 11/119 r.(?) A542 VWF_00220 UCSC & Ensembl seq differs to Mancuso seq at this location. - - unpublished DNA SEQ ? ? - - - -
14 c.1657dup 1657dupT (W553LfsX97) r.(?) p.(Trp553Leufs*97) VWF_00544 This mutation was found in a heterozygous state with the P812RfsX31 mutation. The mutation creates a cleavage site for SecI. unknown - Zhang et al., 1994 DNA SEQ - Sweden No - Type 3 -
14 c.1728G>T M576I r.(?) p.(Met576Ile) VWF_00443 - unknown - James et al. 2007 DNA SEQ - Canada No - Type 1 -
15 c.1730-2A>G - r.(?) p.(=) VWF_00121 Splice site mutation results in deletion of exon 15. Patient heterozygous. VWF:RCof <1%; VWF:CB <1%; VWF:Ag 10% unknown - Unpublished DNA SEQ - China No - Unclassified -
15 c.1781C>G
  (Reported 2 times)
A594G r.(?) p.(Ala594Gly) VWF_00587 VWF:Ag 37%, VWF:RCo 38%, FVIII:C 63%, ABO A blood group. unknown - Corrales et al. 2009 DNA SEQ - Spain No - Type 1 -
15 c.1858G>T E620X r.(?) p.(Glu620*) VWF_00545 Found in a heterozygous state. Abolishes a recognition site for ThaI and creates a recognition site for MaeI. unknown - Zhang et al., 1994 DNA SEQ - Sweden No - Type 3 -
15 c.1922C>T A641V r.(?) p.(Ala641Val) VWF_00522 Mutation associated with a normal multimer pattern. unknown - Goodeve et al. 2007 DNA SEQ - Europe No - Type 1 -
15 c.1926G>A W642X r.(?) p.(Trp642*) VWF_00158 - unknown - James et al. 2007 DNA SEQ - Canada No - Type 1 -
15i c.1945+24C>T 12/315 r.(?) p.= VWF_00221 - - unpublished DNA SEQ ? ? - - - -
15i c.1946-17_1946-15dupTCT
  (Reported 2 times)
13/78-83 r.(?) p.= VWF_00745 UCSC & Ensembl seq differs to Mancuso seq at this location. unknown - Zhang et al., 1994 DNA SEQ 0.42/0.58 Sweden - - - -
16 c.1958C>T - r.(?) p.(P653L) VWF_00717 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No Hispanic or Latino - (not relevant) -
16 c.2072del P691QfsX50 r.(?) p.(Pro691Glnfs*50) VWF_00620 Mutation is found heterozygous in a patient with a doubt between VWD type 1 and 2M. The patient is also heterozygous for the SNP D1472H (Flood et al., 2010) which may explain the doubt in phenotype. unknown - Unpublished DNA SEQ - Netherlands No - Type 1 -
17 c.2220G>A
  (Reported 4 times)
M740I r.(?) p.(Met740Ile) VWF_00513 - unknown - Castaman et al, 2000 DNA SEQ - Italy No - Type 2M -
17i c.2281+13C>T 14/317 r.(?) p.= VWF_00223 Frequency based on index case data only. - - James et al., 2007 DNA SEQ ~0.99/0.01 Canada - - - -
17i c.2281+44C>T 14/348 r.(?) p.= VWF_00224 - - unpublished DNA SEQ ? Turkey - - - -
17i c.2282-42C>A 15/167 r.(?) p.= VWF_00225 Highlighted as UCSC & Ensembl seq differs to Mancuso seq at this location. - - VWF Database DNA SEQ 0.46/0.54 ? - - - -
18 c.2284A>G K762E r.(?) p.(Lys762Glu) VWF_00444 - unknown - James et al. 2007 DNA SEQ - Canada No - Type 1 -
18 c.2313G>T M771I r.(?) p.(Met771Ile) VWF_00523 Mutation associated with a normal multimer pattern. unknown - Goodeve et al. 2007 DNA SEQ - Europe No - Type 1 -
18 c.2322G>T 15/249 r.(?) L774 VWF_00226 - - unpublished DNA SEQ ? ? - - - -
18 c.2345G>A R782Q r.(?) p.(Arg782Gln) VWF_00547 The mutation creates a restriction site for PstI. unknown - Zhang et al., 1995 DNA SEQ - Sweden No - Type 1 -
18 c.2362T>C
  (Reported 2 times)
C788R r.(?) p.(Cys788Arg) VWF_00285 Homozygous, Initial diagnosis was Haemophilia A unknown - Unpublished DNA SEQ - Turkey No - Type 2N -
18 c.2365A>G
  (Reported 10 times)
15/292 r.(?) T/A789 VWF_00227 - - Kunkel et al., 1990 DNA SEQ 0.65/0.35 American, North - Caucasian - -
18 c.2385T>C 15/312 r.(?) Y795 VWF_00229 - - Sadler & Ginsburg, 1993 DNA SEQ ? ? - - - -
18 c.2435C>T P812L r.(?) p.(Pro812Leu) VWF_00382 VWF:FVIII 14%, VWF:Ag 70% unknown - Unpublished DNA SEQ - Mexico No - Type 2N -
18 c.2435del
  (Reported 2 times)
P812fs r.(?) p.(Pro812Argfs*31) VWF_00477 Mutation associated with a normal multimer pattern. unknown - Goodeve et al. 2007 DNA SEQ - Europe No - Type 1 -
19 c.2446C>T
  (Reported 11 times)
R816W r.(?) p.(Arg816Trp) VWF_00385 2 sisters and 1 brother all homozygous for mutation unknown - Unpublished DNA SEQ - Turkey No - Type 2N -
19 c.2451T>A - r.(?) p.(H817Q) VWF_00387 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
19 c.2510C>A - r.(?) p.(A837D) VWF_00718 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
19 c.2540dup
  (Reported 2 times)
2540_2541insA (N847KfsX18) r.(?) p.(Asn847Lysfs*18) VWF_00588 Homozygous mutation. unknown - Unpublished DNA SEQ - Morocco No - Type 3 -
19i c.2546+25C>T 16/187 r.(?) p.= VWF_00230 - - Mercier et al., 1990 DNA SEQ 0.33/0.67 Europe - White - -
19i c.2547-146C>T 17/111 r.(?) p.= VWF_00231 - - unpublished DNA SEQ 0.75/0.25 ? - - - -
20 c.2555A>G 17/265 r.(?) Q/R852 VWF_00233 UCSC & Ensembl seq differs to Mancuso seq at this location. - - Sadler & Ginsburg, 1993 DNA SEQ 0.08/0.92 American, North - - - -
20 c.2560C>T R854W r.(?) p.(Arg854Trp) VWF_00548 The mutation creates a restriction site for BsrI. unknown - Bowen et al., 1998 DNA SEQ - Wales No - Type 2N -
20 c.2561G>A
  (Reported 5 times)
R854Q r.(?) p.(Arg854Gln) VWF_00390 Mutation associated with a normal multimer pattern. Mutation associated with reduced VWF:FVIIIB. unknown - Goodeve et al. 2007 DNA SEQ - Europe No - Type 1 -
20 c.2685+2T>C - r.(?) p.(=) VWF_00466 Splice-site mutation. unknown - James et al. 2007 DNA SEQ - Canada No - Type 1 -
20i c.2685+98A>T 17/493 r.(?) p.= VWF_00234 - - unpublished DNA SEQ 0.06/0.94 Mexico - Mestizo - -
20i c.2686-15C>A 18/170 r.(?) p.= VWF_00235 - - unpublished DNA SEQ ? ? - - - -
21 c.2739A>C 18/238 r.(?) G913 VWF_00236 - - unpublished DNA SEQ 0.99/0.01 ? - - - -
21 c.2770C>T R924W r.(?) p.(Arg924Trp) VWF_00445 - unknown - James et al. 2007 DNA SEQ - Canada No - Type 1 -
21 c.2771G>A
  (Reported 6 times)
- r.(?) p.(R924Q) VWF_00237 - unknown ? Hilbert et al., 2003 DNA PCR, SEQ - France Yes - - (not relevant) dbSNP
21i c.2821-48C>T 19/145 r.(?) p.= VWF_00238 - - Sadler & Ginsburg, 1993 DNA SEQ 0.94/0.06 ? - - - -
22 c.2880G>A
  (Reported 2 times)
19/252 r.(?) R960 VWF_00239 - - Sadler & Ginsburg, 1993 DNA SEQ ? American, North - - - -
22 c.2900G>A - r.(?) p.(G967D) VWF_00719 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
22 c.2913C>T 19/285 r.(?) S971 VWF_00240 - - unpublished DNA SEQ 0.99/0.11 France - - - -
22 c.2936G>A S979N r.(?) p.(Ser979Asn) VWF_00607 Mutation is found heterozygous in 3 patients (1 family) with a comparable VWD phenotype. Mean VWF levels: VWF:RCo 25%, VWF:Ag 41%, VWF:CB 25% and disturbed multimers with absence of satellite bands. unknown - Unpublished DNA SEQ - Netherlands No - Type 2A -
23 c.2986T>G C996E r.(?) p.(Cys996Gly) VWF_00446 - unknown - James et al. 2007 DNA SEQ - Canada No - Type 1 -
23 c.3072del 3072delC (S1024fs) r.(?) p.(Trp1025Glyfs*3) VWF_00525 Mutation associated with a normal multimer pattern. unknown - Goodeve et al. 2007 DNA SEQ - Europe No - Type 1 -
23 c.3089A>G - r.(?) p.(Q1030R) VWF_00720 - unknown - Bellissimo et al., 2012 DNA PCR, SEQ - United States No African American - (not relevant) -
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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.
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