Unique variants in the VWF gene

Information The variants shown are described using the NM_000552.3 transcript reference sequence.

630 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 47i_52_ c.(7887+1_7888-1)_*141{0} r.? p.? - - - - pathogenic (recessive) g.(?_6058040)_(6062761_6076651)del - ex48-52 - VWF_001043 - PubMed: Yadegari 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_5i c.-250_(532+1_533-1){0} r.? p.? - - - - pathogenic (recessive) g.(6204751_6219539)_(6233836_?)del - ex1-5 del - VWF_001090 - PubMed: Yadegari 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_52_ c.-250_*141{0} r.? p.? - - - - pathogenic (recessive) g.(?_6058040)_(6233836_?)del g.(?_5948874)_(6124670_?)del VWF-del - VWF_001044 - PubMed: Yadegari 2012 - - Germline - - - - - Johan den Dunnen
?/. 5 _1 c.-1927T>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/? 1 _1 c.-1507C>T r.(=) p.(=) - - - EAHAD-CFDB VUS g.6235093G>A g.6125927G>A - - VWF_000178 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
?/. 1 _1 c.-1468C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235054G>A g.6125888G>A - - VWF_000932 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 2 _1 c.-1403C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234989G>A, g.6236213G>A g.6125823G>A, g.6127047G>A - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-?/? 1 _1 c.-1391A>G r.(=) p.(=) - - - EAHAD-CFDB VUS g.6234977T>C g.6125811T>C - - VWF_000188 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
?/?, -?/? 3 _1 c.-1298C>T r.(=) p.(=) - - - EAHAD-CFDB VUS g.6234884G>A g.6125718G>A - - VWF_000177 - PubMed: James et al., 2007a - rs151088025 Unknown ? 0.99/0.01 - - - Daniel J Hampshire
?/. 4 _1 c.-853A>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-852A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234438T>C g.6125272T>C - - VWF_000925 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 5 _1 c.-819C>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-672C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234258G>A g.6125092G>A - - VWF_000939 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 3 _1 c.-651G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-649A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234235T>C g.6125069T>C - - VWF_000957 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 _1 c.-426G>C r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234012C>G g.6124846C>G - - VWF_000918 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 1 c.-138A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6233724T>C g.6124558T>C - - VWF_000971 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
-?/. 1 - c.-112T>A r.(?) p.(=) - - - - likely benign g.6233698A>T g.6124532A>T - - VWF_001016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-112T>C r.(?) p.(=) - - - - likely benign g.6233698A>G g.6124532A>G - - VWF_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 _1_52_ c.(?_-1)_(*1_?)del r.0 p.0 - - - EAHAD-CFDB unclassified g.(?_6058180)_(6233587_?)del - - - VWF_000645 - PubMed: Acquila et al., 2009 - - Germline/De novo (untested) ? - - - - Daniel J Hampshire
-/. 1 - c.1-20C>T r.(=) p.(=) - - - - benign g.6232382G>A g.6123216G>A - - VWF_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.50dup r.(?) p.(Leu17PhefsTer25) - - - - pathogenic g.6232316dup g.6123150dup - - VWF_001027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., +?/. 2 2 c.55G>A r.(?) p.(Gly19Arg) - - - EAHAD-CFDB unclassified g.6232308C>T g.6123142C>T - - VWF_000001 Functional analysis: rVWF expression in COS-7 cells; normal VWF expression when expressed in vitro PubMed: Borràs et al., 2017, PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Unknown, Germline ? - - - - Irene Corrales Insa, Daniel J Hampshire
-/. 1 - c.55+8C>A r.(=) p.(=) - - - - benign g.6232300G>T g.6123134G>T VWF(NM_000552.3):c.55+8C>A - VWF_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2i c.55+69A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6232239T>C g.6123073T>C - - VWF_000834 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/. 1 3 c.100C>G r.(?) p.(Arg34Gly) - - - EAHAD-CFDB unclassified g.6230460G>C g.6121294G>C - - VWF_000002 - PubMed: Hampshire et al., 2013 - - Germline yes - - - - Daniel J Hampshire
+?/., +/. 4 3 c.100C>T r.(?) p.(Arg34*) - - - EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017, PubMed: Ahmed et al., 2019, PubMed: Corrales et al., 2009 - - Unknown, Germline ? - - - - Irene Corrales Insa, Hamideh Yadegari, Daniel J Hampshire
-?/. 2 - c.114C>T r.(?) p.(Phe38=) - - - - likely benign g.6230446G>A g.6121280G>A VWF(NM_000552.3):c.114C>T (p.F38=) - VWF_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.115G>A r.(?) p.(Gly39Arg) - - - - pathogenic g.6230445C>T - - - VWF_001034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.139G>C r.(?) p.(Asp47His) - - - EAHAD-CFDB unclassified g.6230421C>G g.6121255C>G - - VWF_000004 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+?/. 1 3 c.147C>A r.(?) p.(Ser49Arg) - - - EAHAD-CFDB unclassified g.6230413G>T g.6121247G>T - - VWF_000005 Functional analysis: rVWF expression in COS-7 cells PubMed: Hampshire et al., 2013 - - Germline yes - - - - Daniel J Hampshire
-/? 1 3 c.161C>T r.(?) p.(Ala54Val) - - - EAHAD-CFDB unclassified g.6230399G>A - - - VWF_001093 Res Pract Thromb Haemost 4 (Suppl. 1), abst. PB1548 Christopherson et al., 2020 - - Unknown ? - - - - Pam Christopherson
+/. 1 3 c.164G>A r.(?) p.(Gly55Glu) - - - other pathogenic (dominant) g.6230396C>T g.6121230C>T - - VWF_001035 - - - - Unknown - - - - - Hamideh Yadegari
+/. 1 3 c.171C>A r.(?) p.(Cys57*) - - - EAHAD-CFDB unclassified g.6230389G>T g.6121223G>T - - VWF_000006 - PubMed: Hampshire et al., 2013 - - Germline yes - - - - Daniel J Hampshire
+/. 1 3 c.191del r.(?) p.(Gly64Alafs*19) - - - EAHAD-CFDB unclassified g.6230373del g.6121207del - - VWF_000007 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/. 1 3 c.212C>A r.(?) p.(Ser71*) - - - EAHAD-CFDB unclassified g.6230348G>T g.6121182G>T - - VWF_000008 - PubMed: Li et al., 1998; PubMed: Wang et al., 2000a - - Germline yes - - - - Daniel J Hampshire
?/. 2 3i c.220+100G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6230240C>T g.6121074C>T - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
?/. 1 3i c.221-70G>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6220204C>A g.6111038C>A - - VWF_000827 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/. 1 3i_34i c.(220+1_221-1)_(5842+1_5843-1)del r.? p.? - - - - pathogenic (recessive) g.(6105389_6120782)_(6220135_6230339)del - ex4-34 del - VWF_001064 - PubMed: Yadegari 2012 - - Germline - - - - - Johan den Dunnen
+/+ 1 4 c.229C>T r.[=, 229c>u] p.[=, Gln77*] - - - EAHAD-CFDB pathogenic g.6220126G>A g.6110960G>A - - VWF_000063 functional analysis of RNA from patient platelets PubMed: Eikenboom et al., 1998; PubMed: Castaman et al., 2010b - - Germline yes - - - - Daniel J Hampshire
+?/. 1 4 c.246_247insT r.(?) p.(Ser83*) - - - EAHAD-CFDB unclassified g.6220108_6220109insA g.6110942_6110943insA - - VWF_000835 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/., ?/. 2 4 c.250C>T r.(?) p.(Leu84Phe) - - - EAHAD-CFDB unclassified, VUS g.6220105G>A g.6110939G>A - - VWF_000907 VKGL data sharing initiative Nederland PubMed: Borràs et al., 2017 - - Unknown, CLASSIFICATION record ? - - - - Irene Corrales Insa, VKGL-NL_Nijmegen
+/. 1 4 c.253T>C r.(?) p.(Ser85Pro) - - - EAHAD-CFDB unclassified g.6220102A>G g.6110936A>G - - VWF_000009 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/. 2 4 c.257T>A r.(?) p.(Val86Glu) - - - other pathogenic (recessive), pathogenic (dominant) g.6220098A>T g.6110932A>T - - VWF_001039 - PubMed: Ahmed et al., 2019 - - Germline, Unknown - - - - - Hamideh Yadegari
+/. 1 4 c.260A>C r.260a>c p.Tyr87Ser - - - EAHAD-CFDB unclassified g.6220095T>G g.6110929T>G - - VWF_000012 Functional analysis: rVWF expression in COS-7 and AtT-20 cells PubMed: Rosenberg et al., 2002 - - Germline yes - - - - Daniel J Hampshire
+/. 1 4 c.276del r.(?) p.(Phe92Leufs*11) - - - EAHAD-CFDB unclassified g.6220084del g.6110918del - - VWF_000013 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/. 1 4 c.276dup r.(?) p.(Asp93*) - - - EAHAD-CFDB unclassified g.6220084dup g.6110918dup - - VWF_000015 - PubMed: Jorieux et al., 2000 - - Germline yes - - - - Daniel J Hampshire
+?/. 1 4i_5 c.324-2_326dup r.spl? p.? - - - EAHAD-CFDB unclassified g.6219746_6219750dup g.6110580_6110584dup - - VWF_000849 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/? 1 5 c.374_387del r.(?) p.(Gly125Valfs*3) - - - EAHAD-CFDB VUS g.6219689_6219702del g.6110523_6110536del - - VWF_000017 - PubMed: Kakela et al., 2006 - - Germline ? - - - - Daniel J Hampshire
+?/., +?/+? 7 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified, likely pathogenic g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017, PubMed: Corrales et al., 2009 - - Unknown ? - - - - Irene Corrales Insa, Daniel J Hampshire
+/+? 1 5 c.385C>A r.(?) p.(Leu129Met) - - - EAHAD-CFDB VUS g.6219687G>T g.6110521G>T - - VWF_000022 - PubMed: James et al., 2007a - - Unknown ? - - - - Daniel J Hampshire
-/. 1 - c.390C>T r.(?) p.(Ser130=) - - - - benign g.6219682G>A g.6110516G>A - - VWF_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 1 5 c.421G>A r.(?) p.(Asp141Asn) - - - EAHAD-CFDB likely pathogenic g.6219651C>T g.6110485C>T - - VWF_000024 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 5 c.421G>T r.(?) p.(Asp141Tyr) - - - EAHAD-CFDB likely pathogenic g.6219651C>A g.6110485C>A - - VWF_000025 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2003; PubMed: Baronciani et al., 2008 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 5 c.422A>G r.(?) p.(Asp141Gly) - - - EAHAD-CFDB likely pathogenic g.6219650T>C g.6110484T>C - - VWF_000027 - PubMed: Cumming et al., 2006 - - Germline yes - - - - Daniel J Hampshire
+/+? 2 5 c.449T>A r.(?) p.(Leu150Gln) - - - EAHAD-CFDB likely pathogenic g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Zhang et al., 1995, 1 more item - - Germline yes - - - - Daniel J Hampshire
+/+?, +?/. 2 5 c.449T>C r.(?) p.(Leu150Pro) - - - EAHAD-CFDB likely pathogenic, unclassified g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Corrales et al., 2009, PubMed: Borràs et al., 2017 - - Unknown ? - - - - Daniel J Hampshire, Irene Corrales Insa
+?/. 1 5 c.478G>A r.(?) p.(Gly160Arg) - - - EAHAD-CFDB unclassified g.6219594C>T g.6110428C>T - - VWF_000828 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+? 1 5 c.478G>T r.(?) p.(Gly160Trp) - - - EAHAD-CFDB likely pathogenic g.6219594C>A g.6110428C>A - - VWF_000032 functional analysis rVWF expression in COS-7 cells PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline yes - - - - Daniel J Hampshire
+/+? 1 5 c.497A>T r.(?) p.(Asn166Ile) - - - EAHAD-CFDB likely pathogenic g.6219575T>A g.6110409T>A - - VWF_000033 functional analysis rVWF expression in COS-7 cells PubMed: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline yes - - - - Daniel J Hampshire
?/. 1 - c.512A>T r.(?) p.(Asp171Val) - - - - VUS g.6219560T>A - - - VWF_001032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 1 5_5i c.521_532+3dup r.(spl?) p.? - - - EAHAD-CFDB VUS g.6219539_6219553dup g.6110373_6110387dup - - VWF_000018 - PubMed: Kakela et al., 2006 - - Germline ? - - - - Daniel J Hampshire
-?/. 1 - c.532+17T>C r.(=) p.(=) - - - - likely benign g.6219523A>G g.6110357A>G - - VWF_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 5i c.533-43A>C r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6204793T>G g.6095627T>G - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/., +/+? 4 5i c.533-2A>G r.spl?, r.533_657del p.?, p.Thr179Profs*31 - - - EAHAD-CFDB unclassified, likely pathogenic g.6204752T>C g.6095586T>C - - VWF_000034 functional analysis of RNA from patient platelets & leukocytes PubMed: Borràs et al., 2017, PubMed: Corrales et al., 2011 - - Unknown ? - - - - Irene Corrales Insa, Daniel J Hampshire
+/. 1 5i_6i c.(532+1_533-1)_(657+1_658-1)del r.? p.? - - - - pathogenic (recessive) g.(6184718_6204625)_(6204751_6219539)del - ex6 del - VWF_001089 - PubMed: Yadegari 2012 - - Germline - - - - - Johan den Dunnen
+?/., ?/. 3 6 c.546G>A r.(=), r.(?) p.(Ser182=) - - - EAHAD-CFDB unclassified, VUS g.6204737C>T g.6095571C>T - - VWF_000781 VKGL data sharing initiative Nederland PubMed: Borràs et al., 2017 - - Unknown, CLASSIFICATION record ? - - - - Irene Corrales Insa, VKGL-NL_Nijmegen
?/. 1 - c.553T>C r.(?) p.(Tyr185His) - - - - VUS g.6204730A>G g.6095564A>G - - VWF_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.571T>C r.(?) p.(Trp191Arg) - - - other pathogenic (dominant) g.6204712A>G g.6095546A>G - - VWF_001040 - - - - Unknown - - - - - Hamideh Yadegari
-/. 1 6 c.631A>G r.(?) p.(Asn211Asp) - - - other benign g.6204652T>C g.6095486T>C - - VWF_001041 - - - - Unknown - - - - - Hamideh Yadegari
+/+? 1 6 c.652C>T r.(?) p.(Gln218*) - - - EAHAD-CFDB likely pathogenic g.6204631G>A g.6095465G>A - - VWF_000036 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
-?/., -/. 3 6i c.657+11A>C r.(=) p.(=) - - - other likely benign, benign g.6204615T>G g.6095449T>G - - VWF_001010 8 homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item PubMed: Narang et al., 2020, Journal: Narang et al., 2020 - rs7980045 Germline, CLASSIFICATION record - 8/2792 individuals, 181/2792 individuals - - - Mohammed Faruq, VKGL-NL_Nijmegen
+/+? 1 7 c.666G>A r.(?) p.(Trp222*) - - - EAHAD-CFDB likely pathogenic g.6184709C>T g.6075543C>T - - VWF_000037 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
?/. 1 - c.695C>T r.(?) p.(Ser232Leu) - - - - VUS g.6184680G>A g.6075514G>A - - VWF_000780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.780dup r.(?) p.(Leu261Alafs*42) - - - - pathogenic (recessive) g.6184600dup g.6075434dup 780‐781insG - VWF_001088 - PubMed: Ahmed et al., 2019 - - Germline - - - - - Hamideh Yadegari
+/+? 1 7 c.788_811del r.(?) p.(Cys263_Glu270del) - - - EAHAD-CFDB likely pathogenic g.6184571_6184594del g.6075405_6075428del - - VWF_000039 - PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+? 3 7 c.817C>T r.(?) p.(Arg273Trp) - - - EAHAD-CFDB likely pathogenic g.6184558G>A g.6075392G>A - - VWF_000040 functional analysis rVWF expression in COS-7 & HEK293 cells 1 more item - - Germline yes - - - - Daniel J Hampshire
+?/. 1 7 c.818G>C r.(?) p.(Arg273Pro) - - - EAHAD-CFDB unclassified g.6184557C>G g.6075391C>G - - VWF_000878 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+? 1 7 c.823T>A r.(?) p.(Cys275Ser) - - - EAHAD-CFDB likely pathogenic g.6184552A>T g.6075386A>T - - VWF_000038 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003; PubMed: Baronciani et al., 2008 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 7 c.823T>C r.(?) p.(Cys275Arg) - - - EAHAD-CFDB likely pathogenic g.6184552A>G g.6075386A>G - - VWF_000041 Functional analysis: rVWF expression in COS-7 cells PubMed: Baronciani et al., 2007 - - Germline yes - - - - Daniel J Hampshire
-?/. 1 - c.831G>A r.(?) p.(Gln277=) - - - - likely benign g.6184544C>T - - - VWF_001031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.871del r.(?) p.(Cys291Alafs*166) - - - - pathogenic (recessive) g.6184504del g.6075338del 871delT - VWF_001087 - PubMed: Ahmed et al., 2019 - - Germline - - - - - Hamideh Yadegari
+/+? 1 7i c.874+1G>A r.spl? p.? - - - EAHAD-CFDB likely pathogenic g.6184500C>T g.6075334C>T - - VWF_000043 - PubMed: Gadisseur et al., 2007 - - Germline yes - - - - Daniel J Hampshire
+/+? 1 8 c.893dup r.(?) p.(Met299Tyrfs*4) - - - EAHAD-CFDB likely pathogenic g.6182890dup g.6073724dup - - VWF_000044 - PubMed: Xie et al., 2007 - - Germline yes - - - - Daniel J Hampshire
-/. 2 - c.954T>A r.(?) p.(Asn318Lys) - - - - benign g.6182828A>T g.6073662A>T VWF(NM_000552.3):c.954T>A (p.N318K) - VWF_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+/., +?/., ?/., +/+? 8 8 c.970C>T r.(?) p.(Arg324*) - - - EAHAD-CFDB pathogenic (recessive), unclassified, pathogenic, likely pathogenic g.6182812G>A g.6073646G>A - - VWF_000046 - PubMed: Ahmed et al., 2019, PubMed: Borràs et al., 2017, PubMed: Schneppenheim et al., 1994, 1 more item - - Germline, Unknown ?, yes - - - - Hamideh Yadegari, Irene Corrales Insa, Daniel J Hampshire, Johan den Dunnen
+/+? 1 8 c.971G>A r.(?) p.(Arg324Gln) - - - EAHAD-CFDB likely pathogenic g.6182811C>T g.6073645C>T - - VWF_000047 functional analysis rVWF expression in COS-7 cells PubMed: Hampshire et al., 2013 - - Unknown ? - - - - Daniel J Hampshire
+/+? 1 8 c.988dup r.(?) p.(Ser330Lysfs*4) - - - EAHAD-CFDB likely pathogenic g.6182794dup g.6073628dup - - VWF_000048 - Unpublished - - Germline yes - - - - Daniel J Hampshire
?/. 1 8i c.998-46C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6181654G>A g.6072488G>A - - VWF_000840 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+?/., -/. 3 9 c.1001G>A r.(?) p.(Gly334Glu) - - - EAHAD-CFDB unclassified, benign, likely pathogenic g.6181605C>T g.6072439C>T - - VWF_000837 - PubMed: Borràs et al., 2017, PubMed: Yadegari 2012 - - Unknown, Germline ? - - - - Irene Corrales Insa, Hamideh Yadegari, Johan den Dunnen
-?/. 1 - c.1037C>T r.(?) p.(Thr346Ile) - - - - likely benign g.6181569G>A g.6072403G>A VWF(NM_000552.3):c.1037C>T (p.T346I) - VWF_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1051del r.(?) p.(Val351Cysfs*106) - - - - pathogenic (recessive) g.6181555del g.6072389del 1051delG - VWF_001086 - PubMed: Yadegari 2012 - - Germline - - - - - Johan den Dunnen
+/+? 1 9 c.1071C>A r.(?) p.(Tyr357*) - - - EAHAD-CFDB likely pathogenic g.6181535G>T g.6072369G>T - - VWF_000049 - PubMed: Mazurier et al., 2002; PubMed: Hilbert et al., 2003 - - Germline yes - - - - Daniel J Hampshire
+/+?, +?/., +/. 6 9 c.1093C>T r.(?) p.(Arg365*), p.(Arg365Ter) - - - EAHAD-CFDB likely pathogenic, unclassified, pathogenic, pathogenic (recessive) g.6181513G>A g.6072347G>A - - VWF_000051 VKGL data sharing initiative Nederland PubMed: Bahnak et al., 1991, PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003, 3 more items - - Germline, Unknown, CLASSIFICATION record yes, ? - - - - Daniel J Hampshire, Irene Corrales Insa, VKGL-NL_Nijmegen, Johan den Dunnen
+?/. 2 9 c.1109G>A r.(?) p.(Cys370Tyr) - - - EAHAD-CFDB unclassified g.6181497C>T g.6072331C>T - - VWF_000805 - PubMed: Borràs et al., 2017 - - Unknown ? - - - - Irene Corrales Insa
+/+? 1 9i c.1109+2T>C r.spl? p.? - - - EAHAD-CFDB likely pathogenic g.6181495A>G g.6072329A>G - - VWF_000053 - PubMed: Goodeve et al., 2007 - - Germline yes - - - - Daniel J Hampshire
?/. 4 9i c.1110-26T>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6180535A>T g.6071369A>T - - VWF_000829 - PubMed: Borràs et al., 2017 - rs202011784 Unknown ? 0.998/0.002 - - - Irene Corrales Insa
-?/., -/. 3 - c.1110-6dup r.(=) p.(=) - - - - likely benign, benign g.6180516dup g.6071350dup VWF(NM_000552.3):c.1110-6dupC - VWF_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+? 1 9i c.1110-1G>A r.spl? p.? - - - EAHAD-CFDB likely pathogenic g.6180510C>T g.6071344C>T - - VWF_000055 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - - - Daniel J Hampshire
+/+?, +/. 3 10 c.1117C>T r.(?) p.(Arg373*) - - - EAHAD-CFDB likely pathogenic, pathogenic (recessive) g.6180502G>A g.6071336G>A 1117T>C - VWF_000056 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003, PubMed: Ahmed et al., 2019 - - Unknown, Germline ? - - - - Daniel J Hampshire, Hamideh Yadegari
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.