All transcript variants in gene VWF

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

1262 entries on 13 pages. Showing entries 1 - 100.
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Effect     

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 c.-1927T>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/? _1 c.-1507C>T r.(=) p.(=) - - - EAHAD-CFDB VUS g.6235093G>A g.6125927G>A - - VWF_000178 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire
?/. _1 c.-1468C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6235054G>A g.6125888G>A - - VWF_000932 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1403C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6236213G>A g.6127047G>A - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-1403C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234989G>A g.6125823G>A - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-?/? _1 c.-1391A>G r.(=) p.(=) - - - EAHAD-CFDB VUS g.6234977T>C g.6125811T>C - - VWF_000188 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire
?/? _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 - 0 - Daniel J Hampshire
?/? _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 - 0 - Daniel J Hampshire
-?/? _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 - 0 - Daniel J Hampshire
?/. _1 c.-853A>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-853A>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-853A>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-853A>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-852A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234438T>C g.6125272T>C - - VWF_000925 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-672C>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234258G>A g.6125092G>A - - VWF_000939 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-651G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-651G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-651G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-649A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234235T>C g.6125069T>C - - VWF_000957 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. _1 c.-426G>C r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6234012C>G g.6124846C>G - - VWF_000918 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 1 c.-138A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6233724T>C g.6124558T>C - - VWF_000971 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-?/. - 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
-?/. - 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_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) ? - - 0 - Daniel J Hampshire
-/. - c.1-20C>T r.(=) p.(=) - - - - benign g.6232382G>A g.6123216G>A - - VWF_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.50dup r.(?) p.(Leu17PhefsTer25) - - - - pathogenic g.6232316dup g.6123150dup - - VWF_001027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 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: Goodeve et al., 2007; PubMed: Eikenboom et al., 2009 - - Germline ? - - 0 - Daniel J Hampshire
?/. 2 c.55G>A r.(?) p.(Gly19Arg) - - - EAHAD-CFDB unclassified g.6232308C>T g.6123142C>T - - VWF_000001 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-/. - 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
?/. 2i c.55+69A>G r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6232239T>C g.6123073T>C - - VWF_000834 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/. 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 - - 0 - Daniel J Hampshire
+/. 3 c.100C>T r.(?) p.(Arg34*) - - - EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 3 c.100C>T r.(?) p.(Arg34*) - - - EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 3 c.100C>T r.(?) p.(Arg34*) - - - EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
-?/. - 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 - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
+/. - c.115G>A r.(?) p.(Gly39Arg) - - - - pathogenic g.6230445C>T - - - chr12_007361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.139G>C r.(?) p.(Asp47His) - - - EAHAD-CFDB unclassified g.6230421C>G g.6121255C>G - - VWF_000004 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 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 - - 0 - Daniel J Hampshire
+/. 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 - - 0 - Daniel J Hampshire
+/. 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 ? - - 0 - Daniel J Hampshire
+/. 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 - - 0 - Daniel J Hampshire
?/. 3i c.220+100G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6230240C>T g.6121074C>T - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 3i c.220+100G>A r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6230240C>T g.6121074C>T - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 3i c.221-70G>T r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6220204C>A g.6111038C>A - - VWF_000827 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+ 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 - - 0 - Daniel J Hampshire
+?/. 4 c.246_247insT r.(?) p.(Ser83*) - - - EAHAD-CFDB unclassified g.6220108_6220109insA g.6110942_6110943insA - - VWF_000835 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 4 c.250C>T r.(?) p.(Leu84Phe) - - - EAHAD-CFDB unclassified g.6220105G>A g.6110939G>A - - VWF_000907 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. - c.250C>T r.(?) p.(Leu84Phe) - - - - VUS g.6220105G>A g.6110939G>A - - VWF_000907 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 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 ? - - 0 - Daniel J Hampshire
+/. 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 - - 0 - Daniel J Hampshire
+/. 4 c.276del r.(?) p.(Phe92Leufs*11) - - - EAHAD-CFDB unclassified g.6220084del g.6110918del - - VWF_000013 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - Daniel J Hampshire
+/. 4 c.276dup r.(?) p.(Asp93*) - - - EAHAD-CFDB unclassified g.6220084dup g.6110918dup - - VWF_000015 - PubMed: Jorieux et al., 2000 - - Germline yes - - 0 - Daniel J Hampshire
+?/. 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 ? - - 0 - Irene Corrales Insa
+?/? 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 ? - - 0 - Daniel J Hampshire
+?/+? 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB likely pathogenic g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+? 5 c.385C>A r.(?) p.(Leu129Met) - - - EAHAD-CFDB VUS g.6219687G>T g.6110521G>T - - VWF_000022 - PubMed: James et al., 2007a - - Unknown ? - - 0 - Daniel J Hampshire
-/. - 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
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 ? - - 0 - Daniel J Hampshire
+/+? 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 - - 0 - Daniel J Hampshire
+/+? 5 c.449T>A r.(?) p.(Leu150Gln) - - - EAHAD-CFDB likely pathogenic g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994; PubMed: Zhang et al., 1995 - - Germline yes - - 0 - Daniel J Hampshire
+/+? 5 c.449T>A r.(?) p.(Leu150Gln) - - - EAHAD-CFDB likely pathogenic g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Zhang et al., 1995 - - Germline yes - - 0 - Daniel J Hampshire
+/+? 5 c.449T>C r.(?) p.(Leu150Pro) - - - EAHAD-CFDB likely pathogenic g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 5 c.449T>C r.(?) p.(Leu150Pro) - - - EAHAD-CFDB unclassified g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5 c.478G>A r.(?) p.(Gly160Arg) - - - EAHAD-CFDB unclassified g.6219594C>T g.6110428C>T - - VWF_000828 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+? 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 - - 0 - Daniel J Hampshire
+/+? 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 - - 0 - Daniel J Hampshire
?/. - c.512A>T r.(?) p.(Asp171Val) - - - - VUS g.6219560T>A - - - VWF_001032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/? 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 ? - - 0 - Daniel J Hampshire
-?/. - 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
?/. 5i c.533-43A>C r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6204793T>G g.6095627T>G - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 5i c.533-43A>C r.(=) p.(=) - - - EAHAD-CFDB unclassified g.6204793T>G g.6095627T>G - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+/+? 5i c.533-2A>G r.533_657del p.Thr179Profs*31 - - - EAHAD-CFDB likely pathogenic g.6204752T>C g.6095586T>C - - VWF_000034 functional analysis of RNA from patient platelets & leukocytes PubMed: Corrales et al., 2011 - - Unknown ? - - 0 - Daniel J Hampshire
+?/. 5i c.533-2A>G r.spl? p.? - - - EAHAD-CFDB unclassified g.6204752T>C g.6095586T>C - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5i c.533-2A>G r.spl? p.? - - - EAHAD-CFDB unclassified g.6204752T>C g.6095586T>C - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
+?/. 5i c.533-2A>G r.spl? p.? - - - EAHAD-CFDB unclassified g.6204752T>C g.6095586T>C - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. - c.546G>A r.(?) p.(Ser182=) - - - - VUS g.6204737C>T g.6095571C>T - - VWF_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 6 c.546G>A r.(=) p.(Ser182=) - - - EAHAD-CFDB unclassified g.6204737C>T g.6095571C>T - - VWF_000781 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. 6 c.546G>A r.(=) p.(Ser182=) - - - EAHAD-CFDB unclassified g.6204737C>T g.6095571C>T - - VWF_000781 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - Irene Corrales Insa
?/. - 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
+/+? 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 ? - - 0 - Daniel J Hampshire
-/. - c.657+11A>C r.(=) p.(=) - - - - benign g.6204615T>G g.6095449T>G - - VWF_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.657+11A>C r.(=) p.(=) - - - - likely benign g.6204615T>G g.6095449T>G - - VWF_001010 181 heterozygous; Clinindb (India) Faruq 2020, submtted - rs7980045 Germline - 181/2792 individuals - 0 - Mohammed Faruq
-?/. - c.657+11A>C r.(=) p.(=) - - - - likely benign g.6204615T>G g.6095449T>G - - VWF_001010 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs7980045 Germline - 8/2792 individuals - 0 - Mohammed Faruq
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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.