Search Results


VWF Mutation Search Results

Number of items found for : 589

VWD ClassificationExon No.Nucleotide ChangeAmino Acid SubstitutionAlleles Functional StudiesCountryLaboratoryCommentsReference
Type 10255G>AG19R218NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3 (Type 1)03100C>GR34G80NoTurkeyPeakeHeterozygotes for this mutation had a type 1 VWD phenotype. Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 303100C>TR34X200NoSpainVidalHomozygous mutation.Corrales et al., 2009
Type 303139G>CD47H108NoIranFederici / MannucciPatient homozygous for the candidate missense mutation and of consanguineous descent.Baronciani et al., 2003
Type 103147C>AS49R76NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 303171C>AC57X10NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 303191delGG64AfsX19108NoIranFederici / MannucciPatient homozygous for the deletion and of consanguineous descent.Baronciani et al., 2000
Type 303212C>AS71X NoChinaJiangsu Institute of HematologyThe parents of the patient were heterozygous for this mutation as identified by PCR-DGGE and restriction endonuclease digestion analysis. Wang et al., 2000
Type 304253T>CS85P108NoItalyFederici / MannucciPatient presents 3 mutations, the candidate missense mutation in one allele along with mutation 5170+10C>T and deletion 2435delC in the other allele.Baronciani et al., 2003
Unclassified04260A>CY87S10YesUSAMontgomery Rosenberg et al., 2002
Type 304276delTF92LfsX11108NoItalyFederici / MannucciPatient compound heterozygous with mutation 2157delA.Baronciani et al., 2003
Type 2N04276_277insTD93X NoFranceFrench NetworkThe patient was heterozygous for this mutation on one allele and a C788Y mutation on the other. Reported by Jorieux et al. (1997) at the XVIth ISTH Conference.Unpublished
Type 305374-387del14G125fs6NoUSMontgomeryFound in a heterozygous state.Kakela et al., 2006
Type 305375_376delGTinsCY126TfsX49200NoSpainVidalHomozygous mutation inherited in cis with variants c.4146G>T and c.6197A>G.Corrales et al., 2009
Type 105385C>AL129M2NoCanadaLillicrap James et al., 2007
Type 305421G>AD141N108NoIndiaFederici / MannucciPatient homozygous for the candidate missense mutation and of consanguineous descent.Baronciani et al., 2003
Type 305421G>TD141Y108YesItalyFederici / MannucciPatient compound heterozygous with mutation 2016_2019delCTCT. Expression study shows that the missense mutation impaired VWF multimerization and secretion (unpublished).Baronciani et al., 2003
Type 105422A>GD141G NoEnglandUKHCDO Cumming et al., 2006
Type 305449T>AL150E NoSweden 1 heterozygote patient in 1 type 3 family.Zhang et al., 1994
Type 305449T>CL150P200NoSpainVidalCompound heterozygous mutation found in trans with mutation c.7082-2A>G.Corrales et al., 2009
Type 105478G>TG160W12NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 105497A>TN166I8NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 306533-2A>GNot Determined200NoSpainVidalHomozygous mutation inherited in cis with variant c.1625C>G.Unpublished
Type 306652C>TQ218X108NoIranFederici / MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al., 2000
Type 307666G>AW222X108NoItalyFederici / MannucciPatient compound heterozygous with mutation C275S (823T>A).Baronciani et al., 2000
Type 307788_811delC263_E270del108NoIranFederici / MannucciPatient homozygous for the in-frame deletion and of consanguineous descent.Baronciani et al., 2003
Type 1 (Type 3)07817C>TR273W140YesTurkeyPeakeTwo patients, homozygous for the R273W mutation, had a partial VWF deficiency (VWF:Ag levels of 0.06 IU/mL and 0.09 IU/mL) and lacked high molecular weight VWF multimers in plasma. A third patient, also homozygous for the R273W mutation, had a severe VWF deficiency (VWF:Ag level of less than 0.01 IU/mL) and undetectable VWF multimers in plasma. Multimer analysis showed that rVWFR273W failed to form high-molecular-weight multimers present in wild-type rVWF. Families were supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Allen et al., 2000a
Type 307823T>AC275S108YesItalyFederici / MannucciPatient compound heterozygous with mutation W222X (666G>A). Expression study shows that the missense mutation impaired VWF multimerization and secretion (unpublished).Baronciani et al., 2000
Type 1 (Type 2A)07823T>CC275R22YesItalyFederici/MannucciWhen inherited in conjunction with the type 2B mutation P1337L, this mutation causes a type 2A phenotype.Baronciani et al., 2007
Type 307874+1G>ANot Determined10NoTurkeySchneppenheimIn silico analysis suggests that the mutation results in exon 7 skipping, i.e. p.G220AfsX165. This could result in either a truncated protein with no VWF function or unstable RNA due to nonsense-mediated decay.Gadisseur et al., 2007
Type 308893_894insGM299YfsX46NoChinaHongli WangMutation found in a heterozygous state in conjunction with mutation Y1456X.Xie et al., 2007
Type 308970C>TR324X ?GermanySchneppenheimNonsense mutation in the prosequence; recessive inheritance.Schneppenheim et al., 1994
Type 108971G>AR324Q4NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 308988dupAS330KfsX48NoNetherlandsvan HeerdeHomozygous mutation in two brothers (VWF:RCo <5%, VWF:Ag <5%, VWF:CB <5%, FVIII:C 4%). Parents were both heterozygous and had low normal VWF levels.Unpublished
Type 2N091071C>AY357X NoFranceMazurier Mazurier et al., 2002
Type 3091093C>TR365X NoFranceMeyer Bahnak et al., 1991
Type 3091093C>TR365X108NoIran / ItalyFederici / MannucciOne patient (Iran) homozygous, and one (Italy) compound heterozygous with mutation Y610X (1830C>A).Baronciani et al., 2003
Type 1091109+2T>CN/A206NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3101110-1G>AN/A108NoIranFederici / MannucciPatient homozygous for the potential splice site mutation (located at position 7/156 according to Mancuso et al., 1989) and of consanguineous descent.Baronciani et al., 2000
Type 3101117C>TR373X108NoIndiaFederici / MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al., 2000
Type 3101131G>TW377C40?GermanySchneppenheimCandidate missense mutation; the patient was homozygous.Schneppenheim et al., 1994
Type 2A111212ins6 (AATCCC)F404insNP YesSwedenHolmbergPatient also compound heterozygote for a null alleleHolmberg et al, 1998
Type 3111280T>AI427N NoFranceMazurierThe propositus is homozygous for the mutation. His parents are heterozygous.Unpublished
Type 2A121309-1326delD437-R442del10YesUSAMontgomeryVWF from abnormal allele has no ristocetin and low botrocetin binding to platelets. It does not store nor multimerize.Unpublished
Type 2A121309_1326delD437_R442del YesEnglandMazurierPatient heterozygous for this deletion. The second gene defect was not identified. Reported by Gaucher & Mazurier (1996) at the 2nd EHA Annual Congress.Armitage & Rizza, 1979
Type 1131533+15G>ANot Determined200NoSpainVidal Unpublished
Type 3141534-3C>AL512PfsX11202NoItalyBertina / EikenboomAcceptor slice site mutation 3' intron 13 (11/24 C>A). Platelet mRNA was studied and absence of normal transcript was demonstrated. The aberrant transcript lacks exon 14 and this results in a frameshift.Eikenboom et al., 1998
Type 1141534-3C>AL512PfsX11206NoEUMCMDM-1VWDMutation associated with a normal multimer pattern. Consequence of mutation previously reported by Eikenboom et al., 1998.Goodeve et al., 2007
Type 3141573G>AG525R NoTurkeyBerberVWF:Ag 1%, VWF:RCo 5%, FVIII:C 2%. Patient homozygous.Unpublished
Type 2A141583A>GN528S YesJapanMazurierPatient with IIC phenotype, homozygous for missense mutation.Gaucher et al., 1998
Type 2A141648G>AG550R200?GermanSchneppenheimType IIC: a family study was carried out which revealed 3 heterozygotes, one of them being clinically mildly affected and the patient being homozygous.Schneppenheim et al., 1995
Type 3141657dupTW553LfsX97 NoSwedenAnvretThis mutation was found in a heterozygous state with the P812RfsX31 mutation. The mutation creates a cleavage site for SecI.Zhang et al., 1994
Type 2A141709G>CC570S3YesDenmarkThorsen / HolmbergIndex patient homozygous for the mutation. VWF:RCo <0.04 kIU/l, VWF:Ag 0,06 kIU/l. Multimer analysis shows only the dimer band. Heterozygous mother, father and brother have normal plasma phenotype and are clinically unaffected. Lanke et al., 2008a
Type 1141728G>TM576I2NoCanadaLillicrap James et al., 2007
Unclassified151730-2A>GNot Applicable2NoChinaProf. Hongli WangSplice site mutation results in deletion of exon 15. Patient heterozygous. VWF:RCof <1%; VWF:CB <1%; VWF:Ag 10%Unpublished
Type 1151781C>GA594G200NoSpainVidalVWF:Ag 37%, VWF:RCo 38%, FVIII:C 63%, ABO A blood group.Corrales et al., 2009
Type 3151830C>AY610X108NoItalyFederici / MannucciPatient compound heterozygous with mutation R365X (1093C>T).Baronciani et al., 2003
Type 3151858G>TE620X NoSweden Found in a heterozygous state. Abolishes a recognition site for ThaI and creates a recognition site for MaeI.Zhang et al., 1994
Type 2A151869C>GC623W96YesFranceMazurierThe functional significance of this mutation was reported by Gaucher et al. (1995) at the XVth ISTH Conference.Gaucher et al., 1994
Type 2A151873_1874insGCGG624_A625insG96YesFranceMazurierPatient also has the 2124_2125delCT (C709LfsX3) mutation. Both defects are at the heterozygous state. The functional significance of this mutation was reported by Gaucher et al. (1995) at the XVth ISTH Conference.Gaucher et al., 1994
Type 1151922C>TA641V8NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3151926G>AW642X108NoIndiaFederici / MannucciPatient compound heterozygous with mutation C1071F (3212G>T).Baronciani et al., 2003
Type 1151926G>AW642X2NoCanadaLillicrap James et al., 2007
Type 3151930G>TE644X108NoIranFederici / MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al., 2000
Type 3161946-4C>TN/A108NoItalyFederici / MannucciPatient compound heterozygous for the potential splice site mutation (located at position 13/96 according to Mancuso et al., 1989) and mutation Q2544X (7630C>T).Baronciani et al., 2003
Type 3162016_2019delCTCTS673TfsX67108NoItalyFederici / MannucciPatient compound heterozygous with mutation D141Y (421G>T).Baronciani et al., 2003
Type 1162072delCP691QfsX506NoNetherlandsvan HeerdeMutation 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.Unpublished
Type 3162116C>TQ706X108NoIranFederici / MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al., 2000
Type 2A162124_2125delCTC709LfsX396YesFranceMazurierPatient also has the 1873_1874insGCG (G624_A625insG) mutation. Both defects are at the heterozygous state. The functional significance of this mutation was reported by Gaucher et al. (1995) at the XVth ISTH Conference.Gaucher et al., 1994
Type 3162157delAD720TfsX21108NoItalyFederici / MannucciPatient compound heterozygous with mutation 276delT.Baronciani et al., 2003
Type 2M172220G>AM740I536NoItalyRodeghiero Castaman et al, 2000
Type 1172220G>AM740I26NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Mutation identified in 3 index cases from the same European country. In each case the mutation is inherited along with a R1205H mutation on the same allele.Goodeve et al., 2007
Type 3172269_2270delCTL757VfsX22108NoItalyFederici / MannucciPatient compound heterozygous with mutation 7729+7C>T.Baronciani et al., 2003
Type 2N172278C>TR760C YesItaly Patient's phenotype was characterized by a mild decrease in plasma FVIII and VWF levels and a normal platelet VWF content in association with decreased FVIII binding capacity of VWF. The R760C mutation is responsible for the persistence of the VWF propeptide and thus inhibits the binding of FVIII to VWF; hence the classification of the R760C mutation as type 2N.Casonato et al., 2003
Unclassified172279G>AR760H2YesUSAMontgomery Unpublished
Type 1182284A>GK762E2NoCanadaLillicrap James et al., 2007
Type 2N182287A>GR763G100YesFranceMazurierThe mutation is at the cleavage site of the propeptide.Hilbert et al., 2006
Type 1182313G>TM771I12NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 2N182344C>TR782W NoFranceFrench NetworkThe patient is also heterozygous for the H817Q mutation and has moderately decreased VWF:FVIIIB.Unpublished
Type 2N182344C>TR782W2YesUSAMontgomeryOccurs with H817Q. Both mutations present on same allele; frameshift mutation (2515delG) on other allele.Kroner et al., 1996
Type 1182345G>AR782Q NoSweden The mutation creates a restriction site for PstI.Zhang et al., 1995
Type 2N182354G>AG785E2YesChinaINSERM U.143Second allele not expressed.Gu et al., 1997
Type 2N182359G>AE787K86YesPolandSchneppenheimNovel VWD 2N candidate mutation with FVIII:C of only 0.01 IU/ml. Compound hetrozygous with 2435delC mutation.Schneppenheim et al., 1996; Schneppenheim et al., 2004
Type 2N182362T>CC788R66YesTurkeyPeakeLeads to a reduction in high molecular weight multimers. Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Allen et al., 2000b
Type 2N182362T>CC788R14NoTurkeyCaglayanHomozygous, Initial diagnosis was Haemophilia AUnpublished
Type 2N182363G>AC788Y YesFranceFrench NetworkMutation associated with R854Q in one patient and D93X in the other.Meyer et al., 1997
Type 2N182365A>CT789P226NoIran Mutation found to be homozygous in affected individuals. Heterozygous carriers were normal.Enayat et al., 2010
Type 2N182365G>CA789P212NoUK In both patients the mutation was heterozygous and inherited in conjunction with R854Q. The heterozygous mutation on its own had no effect. Nucleotide 2365 is the location of a known A/G polymorphism previously reported by Sadler & Ginsburg (1993) and Cumming et al. (2006). This family had the non-reference at nucleotide 2365.Enayat et al., 2010
Type 2N182372C>TT791M4YesUSAMontgomery Unpublished
Type 2N182372C>TT791M ?GermanySchneppenheim Schneppenheim et al., 1996
Type 2N182372C>TT791M196YesEnglandPeakeBoth patients are heterozygotes. In one patient the other allele is not expressed at mRNA level.Nesbitt et al., 1999
Type 2N182372C>TT791M Yes   Wise et al, 1991
Type 2N182372C>TT791M60YesFranceMazurier / Sadler Gaucher et al., 1991; Tuley et al., 1991
Type 2N182384A>GY795C YesFranceFrench NetworkMutation associated with R854Q on the other allele.Hilbert et al., 2004
Type 2N182384A>GY795C200YesGermanySchneppenheimPatient also compound heterozygous for 4696C>T (R1566X).Schneppenheim et al., 2004
Type 2N182398A>GM800V YesChinaINSERM U.143The patient is heterozygous for this abnormality. Reported by Hilbert et al. (1999) at the XVIIth ISTH Conference.Unpublished
Type 2N182411G>TC804F NoFranceMazurierPatient also compound heterozygous for R854Q.Caron et al, 2002
Type 2N182435C>TP812L52NoMexicoRosenda Peñaloza PhDVWF:FVIII 14%, VWF:Ag 70%Unpublished
Type 3182435delCP812RfsX31 ?GermanySchneppenheim2 patients were homozygous, 3 were heterozygous. The mutation is the most frequently observed in the German population (12.5% of type 3 chromosomes).Schneppenheim et al., 1994
Type 3182435delCP812RfsX3148NoSwedenAnvretThe deletion was found to be homozygous in nine patients and heterozygous in six.Zhang et al., 1992
Type 3182435delCP812RfsX3186YesPolandSchneppenheimNovel VWD 2N candidate mutation with FVIII:C of only 0.01 IU/ml. Compound hetrozygous with 2359G>A (E787K) mutation.Schneppenheim et al., 1996; Schneppenheim et al., 2004
Type 3182435delCP812RfsX31108NoItalyFederici / MannucciPatient presents 3 mutations, the deletion on one allele, and 2 mutations (5170+10C>T, S85P) on the other allele.Baronciani et al., 2003
Type 1182435delCP812fs6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1182435delCP812fs2NoCanadaLillicrap James et al., 2007
Type 318Exon 18 deletion?40?ItalySchneppenheim1 index patient is heterozygous for Delta C in exon 18 (2,5 % of Italian VWD type 3 patients) and a second yet unidentified defect.Unpublished
Type 318Exon 18 deletion?16?PolandSchneppenheim4 index patients are homozygous for Delta C in exon 18, 4 index patients are heterozygous for this frameshift mutation and a second yet unidentified defect.Gazda et al, 1997
Type 3192443-1G>CN/A66NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 2N192446C>TR816W ?GermanySchneppenheimOne homozygous patient from one family. One other family member is heterozygous and is clinically unaffected.Unpublished
Type 2N192446C>TR816W NoUSA Information contributed by M. Daly. Both patients homozygous. Same family previously reported in Collins RH et al. (1992) Annals of Internal Medicine 116, 391-392.Unpublished
Type 2N192446C>TR816W100YesFranceMazurier / SadlerThis group also identified a type 2N VWD patient found to be compound heterozygous for this mutation and the R854Q mutation (Mazurier, 1992).Gaucher et al., 1991; Jorieux et al., 1992
Type 2N192446C>TR816W14NoTurkeyCaglayan2 sisters and 1 brother all homozygous for mutationUnpublished
Type 2N192446C>TR816W14NoTurkeyCaglayanHomozygousUnpublished
Type 1192446C>TR816W6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 2N192446C>TR816W2NoBrazilHemocentro UNICAMPThe patient has a history of bleeding following trauma and has been recorded with VWF:RCo 146.5%, FVIII:C 4.22% and VWF:CB 220%. There is also a history of bleeding in the extended family.Unpublished
Type 2N192446C>TR816W200NoSpainVidalHomozygous mutation. VWF:Ag 116%, VWF:RCo 106%, FVIII:C 6%, ABO A blood group.Corrales et al., 2009
Type 2N192446C>TR816W200NoSpainVidalCompound heterozygous mutation found in trans with mutation p.Q1154X. VWF:Ag 93%, VWF:RCo 104%, FVIII:C 4%, ABO AB blood group.Corrales et al., 2009
Type 2N192446C>TR816W40NoSpainBatlleHomozygous mutation. VWF:Ag 69 IU/dL, VWF:RCo 69 IU/dL, FVIII:C 8.1 IU/dL. Normal multimer pattern. VWF:FVIIIB = 0.001 (patient's daughter heterozygous; VWF:FVIIIB = 0.56).Unpublished
Type 2N192447G>AR816Q5YesUSAOwenPropositus also has Gaucher's disease.Unpublished
Type 2N192451T>AH817Q NoFranceFrench NetworkOne patient was homozygous for the mutation and the second was heterozygous and also had the R782W mutation. Both patients have moderately decreased VWF:FVIIIB.Unpublished
Type 2N192451T>AH817Q Yes  Occurs with R782W. Both mutations present on same allele; frameshift mutation on other allele.Kroner et al, 1991a
Type 1192515delG842X2NoUSAMontgomeryA frameshift mutation creates a premature stop 3 codons 3' of the deletion. G deletion at 2515 gives G839E, E840K, T841Q, V842X.Kroner et al, 1996
Type 3192540_2541insAN847KfsX18200NoMoroccoVidalHomozygous mutation.Unpublished
Type 2N202560C>TR854W108NoWales The mutation creates a restriction site for BsrI.Bowen et al., 1998
Type 2N202561G>AR854Q304YesArgentinaLazzari Unpublished
Type 2N202561G>AR854Q80NoSpainCasana Unpublished
Type 2N202561G>AR854Q ?GermanySchneppenheimFour patients from 4 families were homozygous for R854Q. Six patients from 3 families were compound-heterozygous for R854Q and a silent yet unidentified allele.Schneppenheim et al, 1996a
Type 2N202561G>AR854Q424NoNetherlandsBertinaAll patients heterozygous, second allele no mRNA in 1, stopcodon R2535* in 2 and second allele unknown in 1 patient. By testing 424 alleles the R854Q allele was found in 1% of normal alleles.Eikenboom et al, 1993
Type 2N202561G>AR854Q198YesEnglandPeakeBoth patients are homozygotes.Unpublished
Type 2N202561G>AR854Q Yes MazurierThe patients from unrelated families are compound heterozygotes for R854Q and R816W.Mazurier, 1992
Type 2N202561G>AR854Q YesFranceMazurierPatients are heterozygotes for the mutation, the second gene defect is not identified.Unpublished
Type 2N202561G>AR854Q No   Lavergne et al, 1992
Type 2N202561G>AR854Q No  Heterozygote; other allele not expressed at mRNA level.Peerlinck et al, 1992
Type 2N202561G>AR854Q YesUSAMontgomery Kroner et al, 1991b
Type 2N202561G>AR854Q100NoFranceMazurier Gaucher et al, 1991; Mazurier, 1992
Type 2N202561G>AR854Q98YesUSGinsburg Cacheris et al, 1991
Type 1202561G>AR854Q8NoEUMCMDM-1VWDMutation associated with a normal multimer pattern. Mutation associated with reduced VWF:FVIIIB.Goodeve et al., 2007
Type 1202561G>AR854Q16NoCanadaLillicrapOccurred with a frequency of 0.66 in unaffected family members.James et al., 2007
Type 1202561G>AR854Q200NoSpainVidalCompound heterozygous mutation found in trans with mutation c.7730-1G>C. VWF:Ag 40%, VWF:RCo 30%, FVIII:C 30%.Unpublished
Type 2N202561G>AR854Q40NoSpainBatlleVWF:Ag 42 IU/dL, VWF:RCo 37.3 IU/dL, FVIII:C 20.2 IU/dL. Normal multimer pattern. VWF:FVIIIB = 0.004. Patient likely heterozygous for this mutation and a null allele as only the father carries p.R854Q (VWF:FVIIIB = 0.69).Unpublished
Type 2N202573G>TC858F YesFranceFrench NetworkMutation associated with R854Q on the other allele.Jorieux et al, 1997; Meyer et al, 1997
Type 2N202635G>AD879N YesFranceMazurierMutation associated to R1659* (type 3 mutation) on the second allele.Jorieux et al, 1996
Type 3202641delCL881SfsX2866NoTurkeyPeakeThis mutation was found in the heterozygous state. The second mutation was not identified. Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 1202685+2T>CN/A2NoCanadaLillicrapSplice-site mutation.James et al., 2007
Type 1212686-1G>CN/A16YesEUMCMDM-1VWDMutation associated with a normal multimer pattern. Mutation results in the skipping of exon 21.Goodeve et al., 2007
Type 1212686-2A>GN/A208YesEUMCMDM-1VWDMutation results in the skipping of exon 21 & is associated with an abnormal multimer pattern.Goodeve et al, 2007
Type 3212734_2735insTK912IfsX2466NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 1212770C>TR924W2NoCanadaLillicrap James et al., 2007
Type 2N212771G>AR924Q376YesArgentinaLazzariPreviously reported as a polymorphism (Hilbert et al., 2003). Observed in 2 related and 1 unrelated heterozygous male patients with moderate to severe hemorrhagic symptoms. FVIII ≤50%, discordant with VWF:Ag (FVIII/VWF:Ag <0.52). The mutation was not present in 2 related asymptomatic patients and 183 healthy controls. Casais et al., 2006
Type 1212771G>AR924Q36NoEUMCMDM-1VWDAssociated with a normal multimer pattern. Also reported as a polymorphism (Hilbert et al., 2003; Cumming et al., 2006). Status uncertain, marks an allele with reduced VWF levels.Goodeve et al., 2007
Type 1212771G>AR924Q16NoCanadaLillicrapAlso reported as a polymorphism (Hilbert et al., 2003; Cumming et al., 2006).James et al., 2007
Type 2N212771G>AR924Q16NoBrazilHemocentro UNICAMPThis mutation was found to be heterozygous in a type 2N VWD patient with a history of bleeding following dental extraction. The patient's levels were VWF:Ag 137.5IU/mL, VWF:RCo 89%, FVIII:C 13%. Previously reported as a polymorphism (Hilbert et al., 2003).Unpublished
Type 1212820+1G>AN/A214YesEUMCMDM-1VWDMutation results in the skipping of exon 21 & is associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1212820+1G>CN/A220YesEUMCMDM-1VWDMutation results in the skipping of exon 21 & is associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 2A222936G>AS979N6NoNetherlandsvan HeerdeMutation 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.Unpublished
Type 1232986T>GC996E2NoCanadaLillicrap James et al., 2007
Type 1233072delCS1024fs10NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3233108+5G>ANot applicable108NoItalyFederici/MannucciPatient homozygous for the potential splice site mutation (located at position 20/476 according to Mancuso et al, 1989) and of consanguineous descent.Baronciani et al, 2003
Type 1233108+5G>AN/A YesEnglandUKHCDOMutation causes skipping of exon 23 at the RNA level.Cumming et al., 2006
Type 2N243159G>TQ1053H YesFranceFrench NetworkThe two patients are found heterozygous for this mutation.Hilbert et al, 1998
Type 2N243178T>CC1060R ?FranceMazurierOne patient is homozygous, the others are heterozygous with a type 2N or type 3 mutation on the second allele.Jorieux et al, 1997
Type 2N243179G>AC1060Y30NoNetherlandsvan HeerdeMutation is found homozygous in 1 patient with VWF:RCo 22%, VWF:Ag 29%, VWF:CB 23%, FVIII:C 9%, VWF:FVIIIB <0.10. Mutation also found in 11 heterozygous patients (3 different families) with low normal VWF levels, disturbed multimers and partially disturbed VWF:FVIIIB (average 0.30).Unpublished
Type 1243179G>AC1060Y206NoEUMCMDM-1VWDMutation heterozygous. VWF:Ag 36IU/dL, VWF:RCo 28IU/dL, FVIII:C 39IU/dL, VWF:FVIIIB slope 0.44. Abnormal multimers.Hampshire et al., 2010
Type 3243212G>TC1071F108NoIndiaFederici/MannucciPatient compound heterozygous for the candidate missense mutation and mutation W642X (1896G>A).Baronciani et al, 2003
Type 2N253232G>AE1078K YesFranceFrench NetworkMutation found in a heterozygous state.Hilbert et al., 2004
Type 1253281T>CI1094T6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Unclassified253301T>CC1101R NoFranceFrench Network Unpublished
Unclassified253303C>GC1101W NoFranceFrench Network Unpublished
Unclassified253320A>GY1107C YesFrance-SwitzerlandMazurierMutation described as type 2Q-Bern subtype (Baillod et al. Am. J. Hematol. 1995, 49:21)Gaucher et al, 1997
Type 1253332G>AC1111Y2NoCanadaLillicrap James et al., 2007
Unclassified253359G>CW1120S NoBelgiumMazurier Gaucher et al, 1997
Type 3253379+1G>ANot applicable108NoIndiaFederici/MannucciPatient compound heterozygous for the potential splice site mutation (located at position 21/425 according to Mancuso et al, 1989) and mutation 4414insC.Baronciani et al, 2003
Type 2N253379+1G>AN/A14YesEnglandPeakeThe allele containing the splice-site mutation was not expressed. This mutation was found to be heterozygous in two IC with type 2N VWD; one IC was also heterozygous for p.R854Q and the other was also heterozygous for p.T791M.Nesbitt et al., 1999
Type 1253379+1G>AN/A NoEnglandUKHCDO Cumming et al., 2006
Type 1253379+1G>AN/A2NoCanadaLillicrapSplice-site mutation.James et al., 2007
Type 3263385_3386delAGS1129LfsX126NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 1 (Type 2A)263388T>CC1130R36NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Reduced VWF:FVIIIB also observed in 1/3 index cases identified with the mutation. All 3 index cases came from the same European country. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 1 (Type 2A)263388T>GC1130G12NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 1263389G>TC1130F100NoItalyBertinaSimilar phenotype as C1149R, thus possibly also a dominant-negative mutation, although no functional studies have been done.Eikenboom et al, 1996
Type 1 (Type 2A)263389G>TC1130F20NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. All index cases identified with the mutation came from the same European country. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 1263430T>GW1144G YesUSAMontgomeryBy virtue of mutation, VWF clearance is less than 3 hours.Haberichter et al., 2006
Type 1 (Type 2A)263430T>GW1144G14NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 1 (Type 2A)263437A>GY1146C6NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 1263437A>GY1146C2NoCanadaLillicrap James et al., 2007
Type 2A263437A>GY1146C YesGermanySchneppenheimVWF:Ag 0.20+/-0.07; VWF:CB 0.16+/-0.06; VWF:RCo 0.07+/-0.03 FVIII:C 0.35+/-0.31 (17 individuals, 12 IC).Schneppenheim et al., 2010
Type 1263445T>CC1149R200YesNetherlandsBertinaFunctional studies showed a dominant-negative effect of this mutation.Eikenboom et al, 1996
Type 2A263445T>CC1149R100NoSpainBatlleVWF:Ag 8.0 IU/dL, VWF:RCo 5.0 IU/dL, FVIII:C 18.1 IU/dL, VWF:CB IU/dL. Plasma VWF multimers decreased and markedly decreased proportion of satellite bands (IIE). Previously classified as a type 1 mutation.Pérez-Rodríguez et al., 2009
Type 2A263445T>CC1149R8NoNetherlandsvan HeerdeMutation is found heterozygous in 4 patients (1 family) with a comparable laboratory phenotype. Mean levels: VWF:RCo 7%, VWF:Ag 15%, VWF:CB 8%, FVIII:C 24% and disturbed multimers.Unpublished
Type 2N263460C>TQ1154X200NoSpainVidalCompound heterozygous mutation in trans with mutation p.R816W. VWF:Ag 93%, VWF:RCo 104%, FVIII:C 4%, ABO AB blood group.Corrales et al., 2009
Type 1263467C>TT1156M110NoSpainCasana Casaña et al, 2001
Type 1263467C>TT1156M20NoSwedenHolmberg Unpublished
Type 3263467C>TT1156M200NoSpainVidalCompound heterozygous mutation found in trans with mutation c.7730-1G>C. VWF:Ag 6%, VWF:RCo 6%, FVIII:C 6%.Unpublished
Unclassified263470G>TC1157F NoFranceFrench NetworkIn this family, 3 patients have the C1157F mutation and the fourth patient has the C1157F mutation on an allele and another mutation, K1362T, on the second allele.Unpublished
Unclassified263511G>CE1171Q YesFranceMazurier Gaucher et al, 1997
Type 1263538+1G>AN/A2NoCanadaLillicrapSplice-site mutation.James et al., 2007
Type 2A263538G>AG1180R YesCanadaLillicrapThe 3538G>A transition does not result in the expression of the G1180R missense mutation, but rather leads to skipping of exons 23 and 26, which is the pathogenic basis of the patient’s phenotype.James et al., 2004
Type 1273568T>CC1190R2NoCanadaLillicrap James et al., 2007
Type 2M273586T>CC1196R NoFranceFrench NetworkReported by Lavergne et al. (2001) at the XVIIIth ISTH Conference.Unpublished
Type 2M / Type 3273586T>CC1196R6NoUK Two patients heterozygous for the mutation were diagnosed with type 2M VWD, whereas a patient homozygous for the mutation was diagnosed with type 3 VWD. Reported by Enayat et al. (2007) at the XXIst ISTH Conference.Unpublished
Unclassified273614G>AR1205H YesFranceFrench NetworkAll patients have VWD with a phenotype Vicenza.Veyradier et al, 2001
Type 2M273614G>AR1205H100?ItalySchneppenheimFound also in one German patient and in a Chinese family with 3 affected members.Schneppenheim et al, 2000
Type 1273614G>AR1205H124NoSpainCasanaMutation identified in five unrelated families. It was linked to the different haplotypes.Casana et al., 2003
Type 1273614G>AR1205H YesEnglandUKHCDOThe group believes the mutation to be correctly associated with either a moderate to severe type 1 phenotype as opposed to the previously described type 2M variant phenotype.Cumming et al., 2006
Type 1273614G>AR1205H40NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Mutation identified in 10 index cases from several European countries. In three families the mutation was also found to co-segregate with a M740I mutation.Goodeve et al., 2007
Type 1273614G>AR1205H18NoCanadaLillicrap James et al., 2007
Unclassified273614G>TR1205L YesFranceFrench NetworkThe R1205H mutation is reported as type 2M Vicenza (Schneppenheim et al Thromb Haemost 2000; 82: 136).Gaucher et al, 1997; de Romeuf et al, 1997
Type 2N273673T>GC1225G8YesTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Allen et al., 2000b
Type 1283679T>CC1227R NoSpainCasana Casana et al., 2001
Type 1283686T>GV1229G NoItalyBertina/EikenboomOccurs with 3692A>C. Possible gene conversion. In addition to the two amino acid substitutions in exon 28, two nucleotide changes in intron 27 were detected (C24/161T, to the pseudogene sequence. All changes were on the same allele.Eikenboom et al, 1998
Type 1283686T>GV1229G22NoCanadaLillicrapOccurred with a frequency of 0.75 in unaffected family members. Occurred on the same haplotype as N1231T.James et al., 2007
Type 1283692A>CN1231T NoItalyBertina/EikenboomOccurs with 3686T>G. Possible gene conversion. In addition to the two amino acid substitutions in exon 28, two nucleotide changes in intron 27 were detected (C24/161T, to the pseudogene sequence. All changes were on the same allele. Is also reported as a polymorphism.Eikenboom et al, 1998
Type 1283692A>CN1231T22NoCanadaLillicrapOccurred with a frequency of 0.75 in unaffected family members. Occurred on the same haplotype as V1229G.James et al., 2007
Unclassified283702T>GC1234W NoFranceFrench Network Unpublished
Type 2M283797C>AP1266Q2YesUSAMontgomeryPresent on same allele as 3835G>A. Previously reported as a type 2B mutation.Kroner et al., 2003
Type 2B283797C>TP1266L ?GermanyRuggeriInvestigated four patients from three unrelated familiesHolmberg et al, 1993
Type 1283797C>TP1266L NoNetherlandsBertinaPatients heterozygous, second allele no expression at mRNA level. Mutations correspond to pseudogene sequence; possibly due to gene conversion. Occurs with 3835G>A.Eikenboom et al, 1993
Type 1283797C>TP1266L12NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. This mutation results from gene conversion and was identified on the same allele as the R1315H mutation.Goodeve et al., 2007
Type 1283797C>TP1266L28NoCanadaLillicrapOccurred with a frequency of 0.4 in unaffected family members. Occurred on the same haplotype as V1279I.James et al., 2007
Type 2B283802C>AH1268N2NoCanadaLillecrapVWF:Ag = 0.55 U/ml VWF:RCo = 0.32 U/mlRoland et al, 2006
Type 2B283802C>GH1268D100Yes   Rabinowitz et al, 1993
Type 2A283814T>CC1272R100NoFranceMeyer Unpublished
Type 2A283814T>GC1272G100YesFranceFrench NetworkRecombinant VWF shows increased responsiveness to ristocetin.Meyer et al, 1997
Type 2A283814_3815insATTTCTACTY1271_C1272insYFY4NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 2A283815G>CC1272S100NoSpainBatlleVWF:Ag:48%, VWF:RCo:No aggregation, VWF:CB:6%, FVIII:C:52%. Lacks high and intermediate multimers. Son same mutation: VWF:Ag: 37%, VWF:RCo:No aggregation, VWF:CB:3%, FVIII:C: 27%, Lacks high and intermediate multimers. Penas et al, 2004
Type 2A283815G>TC1272F40NoArgentinaKempferHeterozygote patient with epistaxis and hematomas, prolonged bleeding time, and normal platelet count. VWF:RCo: undetectable. VWF:Ag: 28 U/dl. FVIII: 30 U/dl. Patient lacks high and intermediate molecular weight multimers.Unpublished
Type 2A283827T>CL1276P100YesFrance & SpainFrench NetworkOne patient is compound heterozygous: R1374L + L1276PMeyer et al, 1997
Type 1 (Type 2A)283831-3833delCCTD1277-E78delinsL10NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 2M283835G>AV1279I YesFranceFrench Network Lavergne et al, 1999
Type 1283835G>AV1279I NoNetherlandsBertinaPatients heterozygous, second allele no expression at mRNA level. Mutations correspond to pseudogene sequence; possibly due to gene conversion. Occurs with 3797C>T.Eikenboom et al, 1993
Type 2M283835G>AV1279I2YesUSAMontgomeryPresent on same allele as 3797C>A. Previously listed as a type 2B mutation.Kroner et al., 2003
Type 1283835G>AV1279I28NoCanadaLillicrapOccurred with a frequency of 0.4 in unaffected family members. Occurred on the same haplotype as P1266L.James et al., 2007
Type 3283835G>AV1279I200NoPakistanVidalIdentified as part of a homozygous gene conversion event in conjunction with mutations Q1311X, I1343V, V1360A and F1369I. Results in a null allele.Corrales et al., 2009
Type 2A283835G>TV1279F200NoSpainVidalVWF:Ag 24%, VWF:RCo 10%, FVIII:C 48%, ABO A blood group.Corrales et al., 2009
Type 1283839-3845dup7D1283PfsX1218NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 2M283845T>GL1282R100NoFranceFrench Network Unpublished
Type 1283853T>CS1285P12NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 2M283854C>TS1285F100NoFranceFrench Network Unpublished
Type 2M283863T>GL1288R6NoNetherlandsvan HeerdeMutation is found heterozygous in 3 patients (1 family) with a comparable laboratory phenotype. Mean VWF levels: VWF:RCo 9%, VWF:Ag 24%, VWF:CB 19%, FVIII:C 41% and normal multimers.Unpublished
Type 2M283877T>CF1293L10NoNetherlandsvan HeerdeMutation is found heterozygous in 5 patients (2 families) with a comparable VWD phenotype. Mean VWF levels: VWF:RCo 6%, VWF:Ag 36%, VWF:CB 32%, FVIII:C 45% and normal multimers.Unpublished
Type 2M283887T>CL1296P100NoFranceFrench Network Unpublished
Type 2M283905A>GD1302G YesFranceFrench Network Lavergne et al, 1999
Type 2B283910A>GM1304V200NoArgentinaWoodsHeterozygote patients (a boy, his mother, and his aunt) with normal platelet count and RIPA at low ristocetin concentrations. Absence of high multimers and decreased platelet count after DDAVP in the boy.Unpublished
Type 2B283912insATGM1304insM100YesFranceMeyerInsertion of a ATG at position 3912; insertion of a Met at position 1304.Ribba et al, 1991; Christophe et al, 1994
Type 2B283916C>TR1306W2NoUSAMontgomery  
Type 2B283916C>TR1306W NoSpainCasana Casana et al, 1998
Type 2B283916C>TR1306W No Daly Unpublished
Type 2B283916C>TR1306W No  ?new mutation; mosaicismHolmberg et al, 1991; Donner et al, 1992
Type 2B283916C>TR1306W No   Sugiura et al, 1991
Type 2B283916C>TR1306W130NoCanadaLillicrap Murray et al, 1991; Lillicrap et al, 1991
Type 2B283916C>TR1306W100NoItalySadler Randi et al, 1991
Type 2B283916C>TR1306W134YesUSGinsburg Cooney et al, 1991; Cooney et al, 1992
Type 2B283916C>TR1306W NoJapanSaito Unpublished
Type 2B283916C>TR1306W ?   Pietu et al, 1992
Type 2B283917G>AR1306Q YesFranceMazurier Hilbert et al, 1996a
Type 2B283917G>TR1306L2NoAustraliaDr CM WardAutosomal dominant mutation. Patient's plasma vWF bound to platelets at low ristocetin concentrations. Unpublished
Type 1 (Type 2A)283920T>CL1307P206NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 2B283922C>TR1308C2NoUSAMontgomery  
Type 2B283922C>TR1308C NoSpainCasana Casana et al, 1998
Type 2B283922C>TR1308C48No   Donner et al, 1991
Type 2B283922C>TR1308C100NoJapanFukutake Hagiwara et al, 1996
Type 2B283922C>TR1308C100YesItalySadler Randi et al, 1991
Type 2B283922C>TR1308C98NoUSGinsburg Cooney et al, 1991
Type 2A283923G>AR1308H100NoFranceFrench Network Meyer et al, 1997
Type 2B283923G>CR1308P Yes Mazurier Hilbert et al, 1996a
Type 2B283925A>GI1309V YesFranceFrench Network Miyata et al, 1996; Federici et al, 1997; Celikel et al, 2000
Type 2B283929C>TS1310F NoSwedenHolmberg Unpublished
Type 2B283929C>TS1310F NoEngland  Wood et al., 1996
Type 3283931C>TQ1311X108NoIranFederici/MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al, 2003
Type 3283931C>TQ1311X140NoSpainCasana Casaña P et al, 2000
Type 3283931C>TQ1311X200NoPakistanVidalIdentified as part of a homozygous gene conversion event in conjunction with mutations V1279I, I1343V, V1360A and F1369I. Results in a null allele.Corrales et al., 2009
Type 3283931C>TQ1311X200NoSpainVidalHomozygous mutation identified in three patients. Average VWF:Ag 6.7%, VWF:RCo 8.7%, FVIII:C 5.7%.Unpublished
Type 2B283939G>CW1313C Yes Ruggeri Ware et al, 1991
Type 2B283940G>CV1314L No   Holmberg et al, 1991
Type 2A283940G>TV1314F100YesFranceMeyer Lavergne et al, 1991; Ribba et al, 1994
Type 2B283941T>AV1314D140NoPortugalCasana Casaña et al, 2001
Unclassified283943C>TR1315C100YesFranceFrench NetworkrVWF shows decreased binding to GPIb.Meyer et al, 1997
Type 2M283943C>TR1315C100NoSpainCasana Casana et al, 1997; Casana et al, 1998
Type 3283943C>TR1315C NoSweden 1 heterozygote patient in 1 type 3 family.Zhang et al., 1994
Type 1 (Type 2A)283943C>TR1315C34NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Mutation identified in 4 index cases from several European countries. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 1283943C>TR1315C20NoCanadaLillicrap James et al., 2007
Type 1283944G>AR1315H12NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1 (Type 2A)283944G>TR1315L8NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 2B283946G>AV1316M NoSpainCasana Casana et al, 1998
Type 2B283946G>AV1316M YesJamaicaUNC Chapel HillExon 28 sequenced, patient is hetrozygous for V553M. Patient has giant platelets, as does sister but by functional studies does not have VWD, second sister is normal.Moll et al, 1998
Type 2B283946G>AV1316M NoNetherlandsBertinaDe novo mutationEikenboom et al, 1994
Type 2B283946G>AV1316M190No  1 germ line mosaicMurray et al, 1992
Type 2B283946G>AV1316M100NoItalySadler Randi et al, 1991
Type 2B283946G>AV1316M98NoUSGinsburg Cooney et al, 1991
Type 2B283946G>AV1316M ?CanadaLillicrapGerminal MosaicLillicrap et al, 1991
Type 2B283946G>AV1316M ?USMontgomery Unpublished
Type 2B283946G>AV1316M ?   Pietu et al, 1992
Type 2B283946G>AV1316M100NoSpainBatlleRIPA observed at low ristocetin concentrations. Decreased platelet count and presence of platelet aggregates in the peripheral blood smear after DDAVP.Rendal et al., 2001
Type 2M283970G>AG1324S100Yes   Rabinowitz et al, 1993
Type 2M283971G>CG1324A YesFranceFrench NetworkThe patient is also hetrozygous for the Q2470* mutationMeyer et al, 1997; Hilbert et al, 1997
Type 2B284010C>TP1337L NoSpainCasana Casana et al, 1998
Type 2B284010C>TP1337L12Yes   Kroner et al, 1992
Type 2B (Type 2A)284010C>TP1337L22YesItalyFederici/MannucciWhen inherited in conjunction with the type 1 mutation C275R, this mutation causes a type 2A phenotype.Baronciani et al., 2007
Type 3284013C>GS1338X108NoItalyFederici/MannucciPatient compound heterozygous with mutation E2129X (6385G>T).Baronciani et al, 2000
Type 2B284021C>TR1341W100NoSpainCasana Casana et al, 1998
Type 2B284022G>AR1341Q No   Liu et al, 1992
Type 2B284022G>AR1341Q Yes   Randi et al, 1991; Randi et al, 1992
Type 2B284022G>AR1341Q No Sixma, Mazurier Unpublished
Type 2B284022G>AR1341Q No   Murray et al, 1991
Type 2B284022G>AR1341Q98No Ginsburg Cooney et al, 1991
Type 2B284022G>AR1341Q NoCanadaLillicrap Lillicrap et al, 1991
Type 2B284022G>AR1341Q ?   Piao et al, 1993
Type 2B284022G>CR1341P No   Liu et al, 1992
Type 2B284022G>TR1341L Yes Mazurier Hilbert et al, 1996a
Type 1284024C>TR1342C10NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 3284027A>GI1343V200NoPakistanVidalIdentified as part of a homozygous gene conversion event in conjunction with mutations V1279I, Q1311X, V1360A and F1369I. Results in a null allele.Corrales et al., 2009
Type 3284036C>TQ1346X108NoIranFederici/MannucciPatient homozygous for the nonsense mutation and of consanguineous descent. Patient developed an inhibitor.Baronciani et al, 2000
Unclassified284054_4158dup105S1352_A1386dup NoFranceMazurier Gaucher et al., 1995
Type 2M284075G>AE1359K100YesFranceFrench Network Meyer et al, 1997
Type 3284079T>CV1360A200NoPakistanVidalIdentified as part of a homozygous gene conversion event in conjunction with mutations V1279I, Q1311X, I1343V and F1369I. Results in a null allele.Corrales et al., 2009
Type 2M284079T>CV1360A8NoNetherlandsvan HeerdeMutation is found heterozygous in 4 patients (1 family) with a comparable laboratory phenotype of a mild VWD type 2M. Mean VWF levels: VWF:RCo 50%, VWF:Ag 87%, VWF:CB 93%, FVIII:C 91% and normal multimers.Unpublished
Type 1284082T>CL1361S208NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 2M284085A>CK1362T YesFranceFrench NetworkThe patient, with type 2A VWD, is double heterozygous for K1362T and C1157F mutations. Recombinant VWF with the K1362T mutation is normally multimerized and shows a decreased binding to platelets.Unpublished
Type 3284092delAC1364 frameshift to terminus108NoIndiaFederici/MannucciPatient compound heterozygous with mutation 7130insC.Baronciani et al, 2003
Type 2M284105T>AF1369I10YesUSMontgomery Hillery et al, 1998
Unclassified284105T>AF1369I20No  Normal multimers, decreased ristocetin cofactor activity.Mancuso et al, 1991
Type 3284105T>AF1369I200NoPakistanVidalIdentified as part of a homozygous gene conversion event in conjunction with mutations V1279I, Q1311X, I1343V and V1360A. Results in a null allele.Corrales et al., 2009
Type 2B284115T>GI1372S6YesItalyCasonatoThe mutation was found in a heterozygous state. Mutation carriers had normal VWF levels and normal multimers, but hyper-response to ristocetin and spontaneous platelet aggregation. This group suggest that the mutation may be more accurately descibed as a type 2B-like mutation. Reported by Sartorello et al. (2007) at the XXIst ISTH Conference.Casonato et al., 2007
Unclassified284120C>AR1374S NoFranceFrench Network Unpublished
Unclassified284120C>TR1374C YesFranceMazurier Hilbert et al, 1995b
Type 1 (Type 2A / 2M)284120C>TR1374C32NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Mutation identified in 4 index cases from the same European country. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A / 2M mutation.Goodeve et al., 2007
Type 2A284120C>TR1374C200NoSpainVidalHeterozygous mutation identified in four patients. Average VWF:Ag 28.5%, VWF:RCo 9.7%, FVIII:C 32.8%. Multimeric patterns compatible with 2A.Corrales et al., 2009
Type 2A / 2M284120C>TR1374C104NoSpainBatlleVWF:Ag 30 UI/dL, VWF:RCo 8 UI/dL, FVIII:C 30 UI/dL, VWF:CB 25.7. BT >15 min. PFA >300 sec.Penas et al., 2005
Unclassified284121G>AR1374H100NoNetherlandsBertinaMutation associated with thrombocytopenia after DDAVP but phenotypically type 1 and no increased ristocetin induced platelet aggregation.Castaman et al, 1995
Unclassified284121G>AR1374H YesFranceMazurier Hilbert et al, 1995b
Type 1 (Type 2A)284121G>AR1374H20NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Both index cases identified with the mutation came from the same European country. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 2A284121G>AR1374H200NoSpainVidalVWF:Ag 43%, VWF:RCo 7%, FVIII:C 42%, ABO A blood group. Multimeric patterns compatible with 2A.Corrales et al., 2009
Type 2A284121G>AR1374H100NoSpainBatlleVWF:Ag 21.7 IU/dL, VWF:RCo 5 IU/dL, VWF:CB 13 IU/dL, FVIII:C 37 IU/dL. PFA >300 sec. Abnormal multimer pattern.Unpublished
Unclassified284121G>TR1374L100YesFrance & AlgeriaFrench NetworkOne patient is compound heterozygous; R1374L + L1276P.Meyer et al, 1997
Type 1 (Type 2A)284133C>TS1378F6NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Unclassified284135C>TR1379C110?SpainCasana Casaña et al, 2001
Type 1284135C>TR1379C6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1284135C>TR1379C200NoSpainVidalVWF:Ag 32%, VWF:RCo 26%, FVIII:C 45%, ABO O blood group.Corrales et al., 2009
Type 2A284148T>CL1383P3NoArgentinaSadlerMultimer pattern is skewed toward small multimers, but not as much as in typical type 2A.Unpublished
Unclassified284148T>GL1383R NoFranceFrench Network Unpublished
Type 2M284173-4205 delR1392-Q1402 del20YesUSAMontgomeryVWF:RCo = 3-8, VWF:Ag 14-35, normal multimers, no platelet binding with ristocetin or botrocetinMancuso et al, 1996
Unclassified284195C>TR1399C NoFranceFrench NetworkOne patient is homozygous, one patient is also heterozygous for a type 3 mutation.Unpublished
Type 2M284222_4224delAAGK1408del YesAlgeria / UKMazurierDeletion of one K residue out of K1405-1408, resulting from a 3 bp AAG deletion between c.4213-4224. The Algerian patient was originally reported by Gaucher et al. (1995) at the XVth ISTH Conference.Hilbert et al., 2000
Type 1284222_4224delAAGK1408del2NoCanadaLillicrapDeletion of one K residue out of K1405-1408, resulting from a 3 bp AAG deletion between c.4213-4224.James et al., 2007
Type 1284238C>TP1413L6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1284238C>TP1413L2NoCanadaLillicrap James et al., 2007
Type 1284244G>AG1415D38NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Both index cases identified with the mutation came from the same European country.Goodeve et al., 2007
Type 1 (Type 2A)284247T>AI1416N10NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Previously classified as a type 1 mutation, detailed multimer analysis reclassified it as a type 2A mutation.Goodeve et al., 2007
Type 2M284263C>GN1421K6YesEUMCMDM-1VWD / HolmbergMutation associated with a normal multimer pattern. Previously classified as a type 1 VWD mutation, but altered due to additional functional data.Goodeve et al., 2007; Lanke et al., 2008b
Type 2M284273A>TI1425F10YesUSAMontgomeryVWF:RCo = 4-13, VWF:Ag = 13-36, normal collagen binding, normal multimers Hillery et al, 1998
Type 2M284273A>TI1425F100YesColumbiaFrench Network Meyer et al, 1997
Type 2M284309G>AA1437T110NoSpainCasana Casaña et al, 2001
Type 1284339G>CE1447Q70NoMexicoPeñaloza R.VWF:RCo 98%, VWF:FVIII 78%, VWF:Ag 46% Blood group 0+ Unpublished
Type 3284368C>AY1456X6NoChinaHongli WangMutation found in a heterozygous state in conjunction with mutation M299YfsX4.Xie et al., 2007
Type 1284368C>GY1456X4NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 2A284373G>AC1458Y100YesFranceFrench Network Meyer et al, 1997
Type 2B284378C>GL1460V100Yes Mazurier Hilbert et al, 1994
Type 2B284382C>AA1461D4NoUSARobert MontgomeryPatient's plasma VWF bound to platelets at low concentrations of ristocetin. Patient and his affected father both have thrombocytopenia and loss of high molecular weight VWf multimers.Unpublished
Type 2B284382C>TA1461V100Yes   Hilbert et al, 1995a
Unclassified284384C>GP1462A NoFranceFrench Network Unpublished
Type 2M284399C>TP1467S48NoUSARobert MontgomeryPatient (child) had von Willebrand studies as part of pre-operative screening, but is asymptomatic. PT, PTT, and thrombin time were normal. Template bleeding time was 3 minutes. Shear condition binds normally suggesting defect in ristocetin binding to VWF.Unpublished
Type 3284414insC1472 frameshift to terminus108NoIndiaFederici/MannucciPatient compound heterozygous with mutation 3379+1G>A.Baronciani et al, 2003
Type 3284415_4416insGH1472QfsX408NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 1284423C>TQ1475X10NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1284453delGV1485FfsX406NoItalyBertina / EikenboomThis guanine deletion introduces a frameshift resulting in a premature TGA stop codon after amino acid 1523.Eikenboom et al., 1998
Type 1284453delGV1485FfsX406NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 2A284499C>AA1500E YesChinaJiangsu Institute of HematologyThe structure of recombinant A1500E VWF within transfected COS-7 cells and the secretion of high-molecular-weight (HMW) multimers were similar to wild-type VWF. HMW forms of VWF multimers were absent in plasma but present in platelets.Wang et al., 2000
Type 2A284508T>AL1503Q110YesCanadaLillicrap O'Brien et al., 2004
Type 2A284508T>CL1503P YesFranceFrench NetworkThe patient is heterozygous for a second type 2A mutation, S1506L.Unpublished
Type 3284508T>CL1503P60NoTurkeyBerberVWF:Ag 1%, VWF:Rco 12%, FVIII:C 1.5%. Patient compound heterozygous for this mutation and p.S1506L.Unpublished
Type 2A284508T>GL1503R124YesJapanNagoya University HospitalPatient A - VWF:Ag 0.19 U/mL, VWF:RCo 0.10 U/mL, FVIII:C 0.33 U/mL. Patient B - VWF:Ag 0.28 U/mL, VWF:RCo 0.09 U/mL, FVIII:C 0.41 U/mL.Kashiwagi et al., 2008
Type 2A284513G>CG1505R25Yes  Group 1 mutation.Lyons et al, 1992
Type 2A284514G>AG1505E100No   Inbal et al, 1992
Type 2A284514G>AG1505E25Yes   Lyons et al, 1992
Type 2A284517C>TS1506L8NoUSARobert MontgomeryAlso reported as a polymorphism in French Population.Unpublished
Type 2A284517C>TS1506L3NoArgentinaSadler Unpublished
Type 2A284517C>TS1506L ? Daly Unpublished
Type 2A284517C>TS1506L100No   Inbal et al, 1992
Type 2A284517C>TS1506L100No   Sugiura et al, 1992
Type 2A284517C>TS1506L25Yes   Lyons et al, 1992
Type 2A284517C>TS1506L ?IsraelInbal Unpublished
Type 2A284517C>TS1506L NoJapanSaito Unpublished
Type 3284517C>TS1506L60NoTurkeyBerberVWF:Ag 1%, VWF:RCo 12%, FVIII:C 1.5%. Patient compound heterozygous for this mutation and p.L1503P.Unpublished
Type 2A284517C>TS1506L100NoSpainBatlleVWF:Ag 12.2 IU/dL, VWF:RCo 5 IU/dL, VWF:CB 4.2 IU/dL, FVIII:C 28.10 IU/dL. Abnormal multimer pattern.Unpublished
Type 2A284541T>GF1514C100Yes Mazurier Gaucher et al, 1993
Type 2A284552A>GK1518E100NoEngland  Enayat et al., 1998
Type 2A284570delGV1524fs8NoGermanySchneppenheimFrameshift mutation del G at 4570, the patient is compound-heterozygous for this frameshift mutation and another yet unidentified mutation correlated with a subtype IIC Miami phenotype.Unpublished
Type 2A284604_4612delTCCACGTCAI1535_V1537del4NoNetherlandsvan HeerdeMutation is found heterozygous in 2 patients (1 family) with a comparable laboratory phenotype. Mean levels: VWF:RCo 18%, VWF:Ag 27%, VWF:CB 18%, FVIII:C 70% and disturbed multimers. Also mutation R924Q (type 1/2N) is involved in both patients.Unpublished
Type 2A284616T>AV1539E NoFranceFrench Network Unpublished
Type 2A284619T>CL1540P25YesUSGinsburg Lyons et al, 1992; Lyons et al, 1994
Type 3284626C>GY1542X108NoItalyFederici/MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al, 2000
Type 2A284628C>TS1543F Yes Mazurier Unpublished
Type 2A284628C>TS1543F200NoSpainVidalVWF:Ag 57%, VWF:RCo 9%, FVIII:C 45%, ABO AB blood group. Multimeric patterns compatible with 2A.Unpublished
Type 3284635delG1545 frameshift to terminus NoGermanySchneppenheim Schneppenheim et al., 1994
Type 1284637-4645del91546-1548del32NoCanadaLillicrap James et al., 2007
Type 2M284645G>AE1549K70NoArgentinaLazzariFive patients (from one family) were all heterozygous for the mutation with normal VWF:Ag and FVIII:C, and VWF:RCo <10 IU/dL.Unpublished
Type 2A284667A>GQ1556R100NoFranceFrench Network Meyer et al, 1997
Type 2A284685T>CL1562P100No   Sugiura et al, 1992
Unclassified284696C>TR1566X NoGermanySchneppenheimPatient compound heterozygous for 2384A>G predicting Y795C.Schneppenheim et al, 2004
Type 2A284703T>AI1568N100NoSpainBatlleVWF:Ag 70 IU/dL, VWF:RCo 8 IU/dL, FVIII:C 72 IU/dL, VWF:CB 9.5 IU/dL; Bleeding time >15 min; PFA >300 seconds. Aberrant multimeric pattern with a clear increase in the relative proportion of the smallest oligomer.Unpublished
Type 2A284717G>AG1573S8NoNetherlandsvan HeerdeMutation found heterozygous in 4 patients (2 families) with a comparable VWD phenotype. Mean VWF levels: VWF:RCo 45%, VWF:Ag 74%, VWF:CB 49%, FVIII:C 77% and variable multimers.Unpublished
Type 2A284735G>AG1579R4NoUSARobert Montgomery Unpublished
Type 2A284738C>GL1580V70NoMexicoPeñaloza R.VWF:RCo 88% VWF:FVIIIB 71%, VWF:Ag 51%Unpublished
Type 2A284739T>CL1580P YesFranceMazurier Hilbert et al, 1996b
Type 2A284747C>TR1583W NoFranceFrench Network Unpublished
Type 1284747C>TR1583W6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1284751A>GY1584C48YesCanadaLillicrapPreviously reported as a polymorphism. O'Brien et al, 2003; James et al., 2007
Type 1284751A>GY1584C106NoEUMCMDM-1VWDMutation associated with a normal multimer pattern. Mutation identified in 13 families in total. In 3 families a second mutation was also identified. In the remainder the mutation was found to track with disease in 6/10 families.Goodeve et al., 2007
Type 1284751A>GY1584C100NoSpainBatlleVWF:Ag 30 IU/dL, VWF:RCo 40 IU/dL, FVIII:C 50.5%. Normal multimer pattern.Unpublished
Type 2A284789C>GR1597G Yes   Donner et al, 1993
Type 2A284789C>TR1597W12NoUSARobert Montgomery Unpublished
Type 2A284789C>TR1597W No   Winter and Mayne, Blood 80
Type 2A284789C>TR1597W100?JapanFukutake Hagiwara et al, 1996
Type 2A284789C>TR1597W ? Sixma Unpublished
Type 2A284789C>TR1597W100?   Sugiura et al, 1992
Type 2A284789C>TR1597W ?EnglandPeake Bowen et al, 1990
Type 2A284789C>TR1597W100No   Inbal et al, 1992
Type 2A284789C>TR1597W100YesUS/FranceGinsburgGroup 2 mutation.Lyons et al, 1992; Ginsburg et al, 1989
Type 2A284789C>TR1597W ?JapanSaito Unpublished
Type 2A284789C>TR1597W200NoSpain / RomaniaVidalHeterozygous mutation identified in two Spanish patients and one Romanian patient. Average VWF:Ag 28%, VWF:RCo 9%, FVIII:C 29.3%. Multimeric patterns compatible with 2A.Corrales et al., 2009
Type 2A284790G>AR1597Q100NoJapanFukutake Inbal et al, 1993; Hagiwara et al, 1996
Type 2A284790G>AR1597Q No Sixma Unpublished
Type 2A284790G>AR1597Q No Meyer Unpublished
Type 2A284790G>AR1597Q100NoFranceMeyerPresented by Lavergne et al, at the ISTH meeting, 1991.Unpublished
Type 2A284790G>TR1597L NoFranceFrench Network Unpublished
Type 1284808T>CL1603P22NoTurkeyBerberVWF:Ag=14.5IU/dl, VWF:RCo=7IU/dl, FVIII:C=43IU/dl.Unpublished
Type 2A284810G>TV1604F100NoFranceFrench Network Meyer et al, 1997
Type 2A284820T>AV1607D100YesUSGinsburgGroup 1 mutation.Lyons et al, 1992; Ginsburg et al, 1989
Type 2A284825G>AG1609R100NoJapanFukutake Hagiwara et al, 1996
Type 2A284825G>AG1609R Yes   Donner et al, 1993
Type 2A284825G>AG1609R100Yes  Patient is heterozygous at this position.Inbal et al, 1993
Type 2A284837T>CS1613P Yes   Chang et al, 1989
Type 2A284841A>GD1614G NoFranceFrench Network Unpublished
Type 2A284880C>AP1627H100NoItaly  Bernardi et al., 1998
Type 2A284883T>CI1628T25Yes   Iannuzzi et al, 1991; Lyons et al, 1994
Type 2A284883T>CI1628T ?  Also reported as polymorphism in French population.Pietu et al, 1992
Type 2A284883T>CI1628T200NoSpainVidalHeterozygous mutation identified in four Spanish patients. Average VWF:Ag 35.8%, VWF:RCo 11.8%, FVIII:C 38.5%.Unpublished
Type 2A284885G>AG1629R110NoSpainCasana Casana et al, 1999
Type 3284886delG1629 frameshift to terminus ?GermanySchneppenheimPatient was heterozygous.Schneppenheim et al, 1994
Type 2A284889T>AV1630E100NoItaly  Bernardi et al., 1998
Type 2A284912G>AE1638K100YesFranceMeyer Lavergne et al, 1991; Christophe et al, 1994; Ribba et al, 1992
Type 2A284916T>CL1639P100YesPeruFrench Network Meyer et al, 1997
Type 2A284942C>TP1648S ?   Pietu et al, 1992
Type 2A284943C>GP1648R100NoSpainBatlleVWF:Ag 26.5 IU/dL, VWF:RCo 9.2 IU/dL.Unpublished
Type 1284944delTP1648fsX45 NoEnglandUKHCDO Cumming et al., 2006
Type 2A284969C>AL1657I100YesEngland  Enayat et al., 2000
Type 2A284970T>AL1657H8NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 3284971insC1657 frameshift to terminus NoSweden 1 heterozygous patient in 1 type 3 family. Mutation not identified in any other family members and linkage analysis revealed that the proband inherited the same paternal chromosome as his two healthy brothers. The mutation could therefore be a germline mutation or an early mutation in the proband.Zhang et al., 1994
Type 3284975C>TR1659X NoSpainCasana Unpublished
Type 3284975C>TR1659X100NoJapanFukutake Hagiwara et al, 1996
Type 3284975C>TR1659X No  4 typeIII homozygous, 2 typeIII heterozygous, and 18 typeI heterozygous patients. In exon 28.Zhang et al, 1992c; Zhang et al, 1992d
Type 3284975C>TR1659X52No  1 homozygote, 2 heterozygotes in one Type III family.Zhang et al, 1992c
Type 3284975C>TR1659X108NoIranFederici/MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al, 2000
Type 3284975C>TR1659X NoTurkeyBerber Unpublished
Type 2A284994T>AV1665E100No  Appears to be a de novo mutation in this family.Inbal et al, 1993
Type 1285004G>TR1668S4NoCanadaLillicrap James et al., 2007
Type 2A285014G>AG1672R100NoJapanFukutake Hagiwara et al., 1996
Type 1285023C>T, 5024T>AL1675X4NoUSAMontgomeryObserved in a compound heterozygous patient that has a type 2A mutation (4789C>T R1597W) on one allele and a dinucleotide substitution on the other allele that codes for a premature stop. 5023C>T and 5024T>A are on the same allele.Unpublished
Type 3285053+1G>ANot applicable108NoIndiaFederici/MannucciPatient compound heterozygous for the potential splice site mutation (located at position 24/1585 according to Mancuso et al, 1989) and mutation 7294delGT.Baronciani et al, 2003
Type 3285053+1G>TN/A6NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 3295170+10C>TNot applicable108NoItalyFederici/MannucciPatient presents 3 mutations, the potential splice site mutation (located at position 25/170 according to Mancuso et al, 1989) in one allele along with mutation S85P and a deletion 2435delC in the other allele.Baronciani et al, 2003
Type 1305180insTTL1727fs4NoCanadaLillicrap James et al., 2007
Unclassified305191T>AS1731T300YesFranceFrench NetworkNew variant of VWD with a defective binding of VWF to collagen.Ribba et al., 2001
Type 2M305235G>TW1745C6YesUKGomezVWF:Ag=29IU/dL, VWF:RCo=27IU/dL, VWF:CB(type III collagen)=10IU/dL. Multimers were normal.Riddell et al., 2009
Type 1305278G>AV1760I2NoCanadaLillicrap James et al., 2007
Type 1315321T>CL1774S216NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1315335C>TR1779X8NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 2M315347T>GS1783A4YesUKGomezVWF:Ag=68IU/dL, VWF:RCo=66IU/dL, VWF:CB (type III collagen)=19IU/dL. Multimers were normal.Riddell et al., 2009
Type 2M315356C>GH1786D6YesUSAMontgomery, ZPMCB-VWDThe mutation results in defective binding to both type I and type III collagen.Flood et al., 2010
Type 1315380A>GK1794E12NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1315453A>GN1818S2NoCanadaLillicrap James et al., 2007
Type 1325465T>GV1822G8NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1325471C>AP1824H120NoSpainCasanaVery low VWF levels. Moderate-to-severe bleeding tendency. Located in A3 domain.Casana et al. 2006
Type 1325545G>AV1850M100NoEnglandUKHCDOThis mutation did not completely segregate with the disease phenotype in the study family. However, it was not identified in any of the 100 control alleles screened.Cumming et al., 2006
Type 3325557C>TR1853X8No  1 patient homozygous, 2 heterozygous type III and 7 type I hetrozygous patients. In exon 32.Zhang et al, 1992b
Type 1355890C>AQ1964K200NoSpainVidalVWF:Ag 33%, VWF:RCo 42%, FVIII:C 45%. Patient also has a mild FXII deficiency (38%).Unpublished
Type 3355941G>TE1981X108NoIranFederici/MannucciPatient homozygous for the nonsense mutation and of consanguineous descent.Baronciani et al, 2003
Type 3366182delT2061 frameshift to terminus108NoItalyFederici/MannucciPatient homozygous for the deletion and of consanguineous descent.Baronciani et al, 2000
Type 3366187C>TP2063S206NoTurkeyPeakeThe mutation was found in 1/200 screened Caucasian alleles. Heterozygotes for this mutation were asymptomatic. Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 1366187C>TP2063S10NoCanadaLillicrapOccurred with a frequency of 0.25 in unaffected family members.James et al., 2007
Type 1376311C>TT2104I2NoCanadaLillicrap James et al., 2007
Type 3376385G>TE2129X108NoItalyFederici/MannucciPatient compound heterozygous with mutation S1338X (4013C>G).Baronciani et al, 2000
Type 1376433C>TP2145S212NoEUMCMDM-1VWDMutation associated with a normal multimer pattern. Mutation identified in family in which the R1374C mutation appeared to be the disease cause. Did not track with disease, but absent from 103 normal controls.Goodeve et al., 2007
Type 3376520T>GC2174G108NoIranFederici/MannucciPatient homozygous for the candidate missense mutation and of consanguineous descent.Baronciani et al, 2000
Type 1376536C>TS2179F2YesUSAMontgomeryBy virtue of mutation, VWF clearance is less than 3 hours.Haberichter et al., 2006
Type 1376554G>AR2185Q2NoCanadaLillicrap James et al., 2007
Type 1386599-20A>TN/A2NoCanadaLillicrapSplice-site mutation.James et al., 2007
Unclassified386620T>CL2207P NoFranceFrench NetworkThe patient displays normal VWF multimers in plasma, slightly reduced ristocetin-induced binding of VWF to GPIb and normal botrocetin-induced binding.Unpublished
Type 1386620T>CL2207P12NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1386697G>CE2233G2NoCanadaLillicrap James et al., 2007
Type 1386769T>AC2257S8NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1386798+1G>TN/A2NoCanadaLillicrapSplice-site mutation.James et al., 2007
Type 1396859C>TR2287W8NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1406911G>AC2304Y14NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1406932G>AR2311H200NoSpainVidalVWF:Ag 64%, VWF:RCo 43%, FVIII:C 66%, ABO O blood group.Corrales et al., 2009
Type 1406938G>AR2313H210NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3416977-1G>CNot applicable108NoIndiaFederici/MannucciPatient homozygous for the potential splice site mutation (located at position 31/2492 according to Mancuso et al, 1989).Baronciani et al, 2000
Type 1417018T>CC2340R2NoCanadaLillicrap James et al., 2007
Type 1417028G>TG2343V2NoCanadaLillicrap James et al., 2007
Type 3427082-2A>GNot Determined200YesSpainVidalCompound heterozygous mutation in trans with mutation p.L150P in one family and with mutation c.8155+3G>C in another family.Corrales et al., 2009
Type 3427085G>TC2362F200NoItalyBertina/EikenboomOne patient homozygous. Three patients compound heterozygous for this mutation and a null allele. These patients are characterized by significant increase of factor VIII after desmopressin.Eikenboom et al, 1998
Type 1427085G>TC2362F6NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 3427125insCFrameshift, 2389X NoItalyBertina/EikenboomCytosine insertion exon 42 7125insC. This cytosine insertion introduces a frame shift resulting in a premature TGA stop codon after codon 2389.Eikenboom et al, 1998
Type 3427130insC2377 frameshift to terminus108NoIndiaFederici/MannucciTwo patients homozygous for the insertion and one compound heterozygous with deletion 4092delAC.Baronciani et al, 2003
Type 1427135C>TR2379C2NoCanadaLillicrap James et al., 2007
Type 3427137insT2379 frameshift to terminus108NoIndiaFederici/MannucciPatient homozygous for the insertion and of consanguineous descent.Baronciani et al, 2003
Type 3427176T>GY2392X24NoTurkeyPeakeThis mutation was found in two type 3 VWD families. It was uncertain whether both families were related. Families were supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 3437294delGT2431 frameshift to terminus108NoIndiaFederici/MannucciPatient compound heterozygous with mutation 5053+1G>A.Baronciani et al, 2003
Type 3437300C>TR2434X108NoIndiaFederici/MannucciPatient homozygous for the nonsense mutation.Baronciani et al, 2003
Type 1437321G>TG2441C12NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 3437377_7393dup CGTGATGGGCCTCCGCGV2465AfsX26NoBelgiumGadisseurThe mutation was found in 1 homozygous patient. Both heterozygous parents were asymptomatic. VWF:Ag 2%, VWF:RCo 0%, VWF:CB 0%, FVIII:C 3%.Unpublished
Type 1437390C>TR2464C26NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern. Mutation identified in 3 index cases, one from the UK and two from Italy. A Y1584C alteration was also found in the UK family.Goodeve et al., 2007
Type 1437390C>TR2464C10NoCanadaLillicrap James et al., 2007
Unclassified437390C>TR2464C2YesEngland Mutation associated with an abnormal multimer pattern. Due to this the authors believed that this mutation was likely to cause an unclassified form of type 2 VWD.Lester et al., 2007
Type 1437405T>CS2469P8NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Unclassified437408C>TQ2470X NoFranceFrench NetworkMutation could be associated with type 2M.Hilbert et al., 2002
Type 1437430G>AC2477Y8NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1437430G>CC2477S6NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Type 1437437+1G>AN/A YesEnglandUKHCDOThe aberrant transcript has been shown to undergo RNA decay.Cumming et al., 2006
Type 3437437G>AN/A NoSweden 2 heterozygous siblings in 1 type 3 family. Nucleotide transition has no effect on the amino acid, but it occurs just prior to the splice donor site, so may result in abnormal splicing.Zhang et al., 1994
Type 3 (Type 1)447449_7450insAV2484SfsX46NoTurkeyPeakeThis mutation was found in a heterozygous state. The heterozygous father of the index case had a type 1 VWD phenotype. The second mutation in the index case was not identified. Family was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 1447489T>CS2497P2NoCanadaLillicrap James et al., 2007
Type 1457552G>AG2518S14NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 1457559A>CQ2520P10NoEUMCMDM-1VWDMutation associated with an abnormal multimer pattern.Goodeve et al., 2007
Unclassified457599T>AC2533X2NoChinaProf. Hongli WangVWF:Rcof 4%; VWF:CB 5%; VWF:Ag 10%Unpublished
Type 3457603C>TR2535X ?GermanySchneppenheimOne patient was homozygous.Schneppenheim et al, 1994
Type 3457603C>TR2535X126NoTurkeyPeakeFamily was supplied by Dr. J. Ingerslev, Denmark and Dr. T. Gürsel, Turkey.Unpublished
Type 3457603C>TR2535X No  1 type III patient is heterozygous in exon 45.Zhang et al, 1992b
Type 3457603C>TR2535X No  Patients are heterozygous; all 3 alleles have identical haplotypes; affected allele is not expressed.Eikenboom et al, 1991; Eikenboom et al, 1992
Type 3457630C>TQ2544X108NoItalyFederici/MannucciPatient compound heterozygous with mutation 1946-4C>T.Baronciani et al, 2003
Type 1457630C>TQ2544X6NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3457636A>TN2546Y No  Patients are homozygous and of consanguineous descent; affected allele is not expressed at mRNA level.Eikenboom et al, 1991; Eikenboom et al, 1992
Type 3457664_7665insAGC2557SfsX8200NoSpainVidalHomozygous mutation.Corrales et al., 2009
Type 3457674insC2558 frameshift to terminus108NoIranFederici/MannucciPatient homozygous for the insertion and of consanguineous descent.Baronciani et al, 2000
Type 3457683delT2561 frameshift to terminus108NoIranFederici/MannucciPatient homozygous for the deletion and of consanguineous descent.Baronciani et al, 2003
Type 3457729+7C>TNot applicable108NoItalyFederici/MannucciPatient compound heterozygous for the potential splice site mutation (located at position 34/439 according to Mancuso et al, 1989) and mutation 2269delCT.Baronciani et al, 2003
Type 1 / 3467730-1G>CNot Determined200YesSpainVidalCompound heterozygous mutation in trans with mutation p.R854Q (type 1: VWF:Ag 40%, VWF:RCo 30%, FVIII:C 30%) or with p.T1156M (type 3: VWF:Ag 6%, VWF:RCo 6%, FVIII:C 6%). Another patient homozygous for the mutation had a type 3 phenotype.Corrales et al., 2009
Type 1487940C>TT2647M2NoCanadaLillicrap James et al., 2007
Type 3498012G>AC2671Y202YesItalyBertina / Eikenboom / RodeghieroThe patient was found to be compound heterozygous for the p.C2671Y mutation and the VWF deletion. No inhibitory antibody formation to VWF was reported in this patient.Eikenboom et al., 1998; Castaman et al., 2000
Type 1498078G>AC2693Y10NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 3508155+3G>CNot Determined200YesSpainVidalCompound heterozygous mutation in trans with mutation c.7082-2A>G.Corrales et al., 2009
Type 3508155+3G>TSkipping of Exon 50 YesGermany  Mertes et al., 1994
Type 1518164C>GP2722A12NoEUMCMDM-1VWDMutation associated with a normal multimer pattern.Goodeve et al., 2007
Type 2A518187-8194del8A2729fs NoEngland  Enayat et al., 2001
Type 3518216G>AC2739Y NoSweden 1 heterozygous patient in 1 type 3 family.Zhang et al., 1994
Type 3518241del92748del3108NoItalyFederici/MannucciPatient homozygous for the in-frame deletion.Baronciani et al, 2000
Type 3528262T>GC2754W56YesGermanySchneppenheimHomozygous mutation causing a severe dimerization defect.Schneppenheim et al, 2001
Type 2A528311T>AC2771S100YesEngland  Enayat et al., 2001
Type 2A528312G>AC2771Y100YesEngland  Enayat et al., 2001
Type 2A528316delCS2772fs24YesGermanySchneppenheimFrameshift mutation del C at 8316; subtype IIE: heterozygous frameshift mutation affecting codons 2773 through the carboxy-terminus, correlated with a severe dimerization defect.Schneppenheim et al, 2001
Type 2A528317T>CC2773R100YesGermany/SwedenSchneppenheimVWD subtype IID according to old nomenclature. Defect of dimersation.Schneppenheim et al, 1996b
Type 2A528318G>CC2773S10YesNetherlandsBertina / EikenboomPatient 1 VWF:Ag = 1.07 IU/ml. Type 2A subtype IID.Tjernberg et al., 2006
Type 1528327C>TP2776L NoFranceC. Mazurier Unpublished
Type 2M528341C>TP2781S70NoMexicoPeñaloza R.VWF:RCo 5% VWF:FVIII 117% VWF:Ag 23% Blood group AB+ Unpublished
Type 2A528402C>AA2801D NoFranceFrench NetworkBoth patients, homozygous for the mutation A2801D, have a phenotype IID VWD. Their parents, heterozygous for the mutation A2801D, are asymptomatic.Unpublished
Type 3528411G>AC2804Y108NoIndiaFederici/MannucciPatient homozygous for the candidate missense mutation.Baronciani et al, 2000
Type 1528412insTCCCCC2804fs4NoCanadaLillicrap James et al., 2007
Unclassified528416T>CC2806R2YesUSAMontgomery VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 band on multimer gel 
Type 3Deletion VWF-44001_8442*35068delNull Allele150NoGermany / ItalySchneppenheimResult of non-homologous recombination. Deletion associated with inhibitory antibody formation to VWF. VWF:Ag <0.01 U/dL.Schneppenheim et al., 2007
Type 3Deletion VWF-44001_8442*35068delNull Allele20NoItalyZimmermanResult of non-homologous recombination. Deletion associated with inhibitory antibody formation to VWF.Ngo et al., 1988
Type 3Deletion VWF-44001_8442*35068delNull Allele76NoItalySadler / MannucciResult of non-homologous recombination. Deletion associated with inhibitory antibody formation to VWF.Shelton-Inloes et al., 1987
Type 3Deletion VWF-44001_8442*35068delNull Allele202YesItalyBertina / Eikenboom / RodeghieroResult of non-homologous recombination. The patient was found to be compound heterozygous for the VWF deletion and the p.C2671Y mutation. No inhibitory antibody formation to VWF was reported in this patient.Eikenboom et al., 1998; Castaman et al., 2000
Type 3Deletion Ex 01-03-30071_56+3445delNull Allele14NoHungaryBodóResult of Alu-mediated homologous recombination. VWF:Ag ≤1 IU/dL, FVIII:C 1-3 IU/dL.Mohl et al., 2008
Type 1 / 3Deletion Ex 04-05221-977_532+7059delD75_G178del310YesEnglandUniversity Department of Haematology, ManchesterResult of Alu-mediated homologous recombination. VWF:Ag 23 IU/dL, VWF:RCo 21 IU/dL, FVIII:C 74 IU/dL on average in type 1 heterozygotes. VWF levels undetectable in type 3 homozygotes.Sutherland et al., 2009
Type 3Deletion Ex 06-16532+1267_2187-251delNull Allele6NoChinaHongli WangResult of Alu-mediated homologous recombination. VWF:Ag <1 U/dL, VWF:RCo <2 U/dL, FVIII:C 3 U/dL.Xie et al., 2006
Type 3Deletion Ex 17-18Not DeterminedNull Allele6NoTurkeyPeakeSouthern 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. Gürsel, Turkey.Unpublished
Type 3Deletion Ex 22-43Not DeterminedNull Allele6NoUSASadlerDeletion associated with inhibitory antibody formation to VWF.Mancuso et al., 1994
Type 3Deletion Ex 23-52Not DeterminedNull Allele108NoIndiaFederici / MannucciDeletion associated with inhibitory antibody formation to VWF.Baronciani et al., 2000
UnclassifiedDeletion Ex 26-343380-298_5843-1385delP1127_C1948delinsR158NoItalyBernardiResult of Alu-mediated homologous recombination. This mutation is associated with a type 2 VWD phenotype, but has not been sub-characterised.Bernardi et al., 1990; Bernardi et al., 1993
Type 3Deletion Ex 33-385621-269_6799-1161delNull Allele6NoUSASadlerDeletion associated with inhibitory antibody formation to VWF.Mancuso et al., 1994
Type 3Deletion Ex 427081+88_7287+1044delNull Allele92NoUKPeake / BloomDeletion associated with inhibitory antibody formation to VWF.Peake et al., 1990
Type 3Deletion Ex ?Not DeterminedNull Allele4NoGermanySchneppenheimThe patient was heterozygous for a partial deletion of VWF, however the exact size and breakpoints were not determined. The second mutation was not identified. No inhibitory antibody formation to VWF was reported in this patient.Schneppenheim et al., 1994
Type 1Promoter-1522del CATTGTTTCCTTTN/A2NoCanadaLillicrap James et al., 2007
Type 1Promoter-1522del CATTGTTTCCTTTN/A202NoEUMCMDM-1VWD101 control samples were screened for this mutation. It was found to be absent from all 101.Unpublished
Type 1Promoter-1665G>CN/A2NoCanadaLillicrap James et al., 2007
Type 1Promoter-1665G>CN/A204NoEUMCMDM-1VWD102 control samples were screened for this mutation. It was found to be absent from all 102.Unpublished
Type 1Promoter-1873A>GN/A2NoCanadaLillicrap James et al., 2007
Type 1Promoter-1873A>GN/A206NoEUMCMDM-1VWD103 control samples were screened for this mutation. It was found to be absent from all 103.Unpublished
Type 1Promoter-1886A>CN/A2NoCanadaLillicrapThis mutation was found in conjunction with the promoter mutation -2487G>A.James et al., 2007
Type 1Promoter-1886A>CN/A206NoEUMCMDM-1VWD103 control samples were screened for this mutation. It was found to be absent from all 103.Unpublished
Type 1Promoter-1896C>TN/A218NoEUMCMDM-1VWD103 control samples were screened for this mutation. It was found to be absent from all 103.Goodeve et al., 2007
Type 1Promoter-2328T>GN/A208NoEUMCMDM-1VWD100 control samples were screened for this mutation. It was found to be absent from all 100.Goodeve et al., 2007
Type 1Promoter-2487G>AN/A2NoCanadaLillicrapThis mutation was found in conjunction with the promoter mutation -1886A>C.James et al., 2007
Type 1Promoter-2487G>AN/A200NoEUMCMDM-1VWD100 control samples were screened for this mutation. It was found to be absent from all 100.Unpublished
Type 1Promoter-2535G>AN/A200NoEUMCMDM-1VWD100 control samples were screened for this mutation. It was found to be absent from all 100. Cumming et al., 2006 reported this as a polymorphism as it did not segregate with disease.Unpublished
Type 1Promoter-2615A>GN/A2NoCanadaLillicrap James et al., 2007
Type 1Promoter-2615A>GN/A200NoEUMCMDM-1VWDThis mutation was identified in 1/200 screened control alleles.Unpublished
Type 1Promoter-2641G>AN/A200NoEUMCMDM-1VWD100 control samples were screened for this mutation. It was found to be absent from all 100. Cumming et al., 2006 reported this as a polymorphism as it did not segregate with disease.Unpublished
Type 1Promoter-2715G>AN/A200NoEUMCMDM-1VWD100 control samples were screened for this mutation. It was found to be absent from all 100. Cumming et al., 2006 reported this as a polymorphism as it did not segregate with disease.Unpublished
Type 1Promoter-2731C>TN/A2NoCanadaLillicrap James et al., 2007
Type 1Promoter-2731C>TN/A208NoEUMCMDM-1VWDThis mutation was identified in 1/200 screened control alleles.Goodeve et al., 2007
 

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This page is maintained by Dan Hampshire
of the Department of Cardiovascular Science at the University of Sheffield