Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-1927T>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-1927T>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6235513A>C g.6126347A>C - - VWF_000864 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/? _1 c.-1507C>T r.(=) p.(=) - - - Unknown EAHAD-CFDB VUS g.6235093G>A g.6125927G>A - - VWF_000178 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
?/. _1 c.-1468C>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6235054G>A g.6125888G>A - - VWF_000932 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-1403C>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6236213G>A g.6127047G>A - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-1403C>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234989G>A g.6125823G>A - - VWF_000852 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
-?/? _1 c.-1391A>G r.(=) p.(=) - - - Parent #2 EAHAD-CFDB VUS g.6234977T>C g.6125811T>C - - VWF_000188 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
?/? _1 c.-1298C>T r.(=) p.(=) - - - Parent #2 EAHAD-CFDB VUS g.6234884G>A g.6125718G>A - - VWF_000177 - PubMed: James et al., 2007a - rs151088025 Unknown ? 0.99/0.01 - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
?/? _1 c.-1298C>T r.(=) p.(=) - - - Unknown EAHAD-CFDB VUS g.6234884G>A g.6125718G>A - - VWF_000177 - PubMed: James et al., 2007a - rs151088025 Unknown ? 0.99/0.01 - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
-?/? _1 c.-1298C>T r.(=) p.(=) - - - Parent #1 EAHAD-CFDB VUS g.6234884G>A g.6125718G>A - - VWF_000177 - PubMed: James et al., 2007a - rs151088025 Unknown ? 0.99/0.01 - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
?/. _1 c.-853A>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-853A>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-853A>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-853A>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234439T>A g.6125273T>A - - VWF_000820 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-852A>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234438T>C g.6125272T>C - - VWF_000925 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individual 00240346 M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individual 00240093 M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individual 00240070 F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-819C>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234405G>T g.6125239G>T - - VWF_000865 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individuals 00244464 and 00244466 M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-672C>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234258G>A g.6125092G>A - - VWF_000939 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-651G>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-651G>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individual 00240343 M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-651G>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234237C>T g.6125071C>T - - VWF_000887 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individual 00240342 M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-649A>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234235T>C g.6125069T>C - - VWF_000957 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. _1 c.-426G>C r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6234012C>G g.6124846C>G - - VWF_000918 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 Related to individual 00240327 and 00240330 F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. 1 c.-138A>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6233724T>C g.6124558T>C - - VWF_000971 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
-?/. - c.-112T>A r.(?) p.(=) - - - Unknown - likely benign g.6233698A>T g.6124532A>T - - VWF_001016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-112T>C r.(?) p.(=) - - - Unknown - likely benign g.6233698A>G g.6124532A>G - - VWF_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_52_ c.(?_-1)_(*1_?)del r.0 p.0 - - - Paternal (inferred) EAHAD-CFDB unclassified g.(?_6058180)_(6233587_?)del - - - VWF_000645 - PubMed: Acquila et al., 2009 - - Germline/De novo (untested) ? - - 0 - DNA MLPA, PCR, SEQ - - VWD-3 - PubMed: Acquila et al., 2009 2-generation family, 1 affected, unaffected heterozygous carrier mother (father not available) F no (Italy) - - 0 - - 1 Daniel J Hampshire
-/. - c.1-20C>T r.(=) p.(=) - - - Unknown - benign g.6232382G>A g.6123216G>A - - VWF_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.50dup r.(?) p.(Leu17PhefsTer25) - - - Unknown - pathogenic g.6232316dup g.6123150dup - - VWF_001027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.55G>A r.(?) p.(Gly19Arg) - - - Paternal (confirmed) 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 - DNA PCR, SEQ - - VWD-1 - PubMed: Goodeve et al., 2007 - F ? Netherlands - - 0 - - 1 Daniel J Hampshire
?/. 2 c.55G>A r.(?) p.(Gly19Arg) - - - Unknown EAHAD-CFDB unclassified g.6232308C>T g.6123142C>T - - VWF_000001 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
-/. - c.55+8C>A r.(=) p.(=) - - - Unknown - benign g.6232300G>T g.6123134G>T VWF(NM_000552.3):c.55+8C>A - VWF_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.55+69A>G r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6232239T>C g.6123073T>C - - VWF_000834 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 Related to individuals 00234346 and 00234349 F ? Spain - - 0 - - 1 Irene Corrales Insa
+/. 3 c.100C>G r.(?) p.(Arg34Gly) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230460G>C g.6121294G>C - - VWF_000002 - PubMed: Hampshire et al., 2013 - - Germline yes - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Hampshire et al., 2013 - F yes Turkey - - 0 - - 1 Daniel J Hampshire
+/. 3 c.100C>T r.(?) p.(Arg34*) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Corrales et al., 2009 - ? no (Spain) - - 0 - - 1 Daniel J Hampshire
+?/. 3 c.100C>T r.(?) p.(Arg34*) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 3 c.100C>T r.(?) p.(Arg34*) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230460G>A g.6121294G>A - - VWF_000003 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
-?/. - c.114C>T r.(?) p.(Phe38=) - - - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Phe38=) - - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.115G>A r.(?) p.(Gly39Arg) - - - Unknown - pathogenic g.6230445C>T - - - chr12_007361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.139G>C r.(?) p.(Asp47His) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230421C>G g.6121255C>G - - VWF_000004 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2003 - M ? Iran - - 0 - - 1 Daniel J Hampshire
+?/. 3 c.147C>A r.(?) p.(Ser49Arg) - - - Paternal (confirmed) 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 - DNA PCR, SEQ - - VWD-1 - PubMed: Hampshire et al., 2013 - F no Turkey - - 0 - - 1 Daniel J Hampshire
+/. 3 c.171C>A r.(?) p.(Cys57*) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230389G>T g.6121223G>T - - VWF_000006 - PubMed: Hampshire et al., 2013 - - Germline yes - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Hampshire et al., 2013 - M yes Turkey - - 0 - - 1 Daniel J Hampshire
+/. 3 c.191del r.(?) p.(Gly64Alafs*19) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230373del g.6121207del - - VWF_000007 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC20 by Baronciani et al. (2000) F ? India - - 0 - - 1 Daniel J Hampshire
+/. 3 c.212C>A r.(?) p.(Ser71*) - - - Both (homozygous) EAHAD-CFDB unclassified g.6230348G>T g.6121182G>T - - VWF_000008 - PubMed: Li et al., 1998; PubMed: Wang et al., 2000a - - Germline yes - - 0 - DNA DGGE, PCR, SEQ - - VWD-3 - PubMed: Li et al., 1998; PubMed: Wang et al., 2000a - ? ? China - - 0 - - 1 Daniel J Hampshire
?/. 3i c.220+100G>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6230240C>T g.6121074C>T - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. 3i c.220+100G>A r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6230240C>T g.6121074C>T - - VWF_000943 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. 3i c.221-70G>T r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6220204C>A g.6111038C>A - - VWF_000827 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+/+ 4 c.229C>T r.[=, 229c>u] p.[=, Gln77*] - - - Maternal (confirmed) 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 - DNA, RNA PCR, RT-PCR, SEQ - - VWD-1 - PubMed: Eikenboom et al., 1998; PubMed: Castaman et al., 2010b Previously reported as T_III3 by Eikenboom et al. (1998). F no Italy - - 0 - - 1 Daniel J Hampshire
+?/. 4 c.246_247insT r.(?) p.(Ser83*) - - - Unknown EAHAD-CFDB unclassified g.6220108_6220109insA g.6110942_6110943insA - - VWF_000835 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 4 c.250C>T r.(?) p.(Leu84Phe) - - - Unknown EAHAD-CFDB unclassified g.6220105G>A g.6110939G>A - - VWF_000907 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. - c.250C>T r.(?) p.(Leu84Phe) - - - Unknown - VUS g.6220105G>A g.6110939G>A - - VWF_000907 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.253T>C r.(?) p.(Ser85Pro) - - - Parent #1 EAHAD-CFDB unclassified g.6220102A>G g.6110936A>G - - VWF_000009 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC2 by Baronciani et al. (2000) F ? Italy - - 0 - - 1 Daniel J Hampshire
+/. 4 c.260A>C r.260a>c p.Tyr87Ser - - - Maternal (confirmed) 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 - RNA RT-PCR, SEQ - - VWD-1 - PubMed: Rosenberg et al., 2002 - ? ? (United States) - - 0 - - 1 Daniel J Hampshire
+/. 4 c.276del r.(?) p.(Phe92Leufs*11) - - - Parent #1 EAHAD-CFDB unclassified g.6220084del g.6110918del - - VWF_000013 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2003 - F ? Italy - - 0 - - 1 Daniel J Hampshire
+/. 4 c.276dup r.(?) p.(Asp93*) - - - Maternal (confirmed) EAHAD-CFDB unclassified g.6220084dup g.6110918dup - - VWF_000015 - PubMed: Jorieux et al., 2000 - - Germline yes - - 0 - DNA PCR, SEQ, SSCA - - VWD-2 - PubMed: Jorieux et al., 2000 - F ? (France) - - 0 - - 1 Daniel J Hampshire
+?/. 4i_5 c.324-2_326dup r.spl? p.? - - - Unknown EAHAD-CFDB unclassified g.6219746_6219750dup g.6110580_6110584dup - - VWF_000849 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/? 5 c.374_387del r.(?) p.(Gly125Valfs*3) - - - Paternal (confirmed) EAHAD-CFDB VUS g.6219689_6219702del g.6110523_6110536del - - VWF_000017 - PubMed: Kakela et al., 2006 - - Germline ? - - 0 - DNA DHPLC, PCR, SEQ - - VWD-3 - PubMed: Kakela et al., 2006 - ? ? (United States) - - 0 - - 1 Daniel J Hampshire
+?/+? 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB likely pathogenic g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Corrales et al., 2009 - ? yes (Spain) - - 0 - - 1 Daniel J Hampshire
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Unknown EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Unknown EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Unknown EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.375_376delinsC r.(?) p.(Tyr126Thrfs*49) - - - Both (homozygous) EAHAD-CFDB unclassified g.6219696_6219697delinsG g.6110530_6110531delinsG - - VWF_000019 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
+/+? 5 c.385C>A r.(?) p.(Leu129Met) - - - Unknown EAHAD-CFDB VUS g.6219687G>T g.6110521G>T - - VWF_000022 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
-/. - c.390C>T r.(?) p.(Ser130=) - - - Unknown - benign g.6219682G>A g.6110516G>A - - VWF_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.421G>A r.(?) p.(Asp141Asn) - - - Both (homozygous) EAHAD-CFDB likely pathogenic g.6219651C>T g.6110485C>T - - VWF_000024 - PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2003 - M yes India - - 0 - - 1 Daniel J Hampshire
+/+? 5 c.421G>T r.(?) p.(Asp141Tyr) - - - Parent #1 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 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2003 - F no Italy - - 0 - - 1 Daniel J Hampshire
+/+? 5 c.422A>G r.(?) p.(Asp141Gly) - - - Unknown EAHAD-CFDB likely pathogenic g.6219650T>C g.6110484T>C - - VWF_000027 - PubMed: Cumming et al., 2006 - - Germline yes - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: Cumming et al., 2006 - F ? United Kingdom (Great Britain) - - 0 - - 1 Daniel J Hampshire
+/+? 5 c.449T>A r.(?) p.(Leu150Gln) - - - Paternal (confirmed) 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 - DNA PCR, SEQ - - VWD-3 - PubMed: Anvret et al., 1992; PubMed: Zhang et al., 1994; PubMed: Zhang et al., 1995 Previously reported as KÖ by Anvret et al. (1992) and as IC6 by Zhang et al. (1994). F no (Sweden) - - 0 - - 1 Daniel J Hampshire
+/+? 5 c.449T>A r.(?) p.(Leu150Gln) - - - Maternal (inferred) EAHAD-CFDB likely pathogenic g.6219623A>T g.6110457A>T - - VWF_000028 - PubMed: Zhang et al., 1995 - - Germline yes - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: Zhang et al., 1995 Individual is the father of individual 00024260. M no (Sweden) - - 0 - - 1 Daniel J Hampshire
+/+? 5 c.449T>C r.(?) p.(Leu150Pro) - - - Unknown EAHAD-CFDB likely pathogenic g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Corrales et al., 2009 - ? ? (Spain) - - 0 - - 1 Daniel J Hampshire
+?/. 5 c.449T>C r.(?) p.(Leu150Pro) - - - Unknown EAHAD-CFDB unclassified g.6219623A>G g.6110457A>G - - VWF_000030 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5 c.478G>A r.(?) p.(Gly160Arg) - - - Unknown EAHAD-CFDB unclassified g.6219594C>T g.6110428C>T - - VWF_000828 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+/+? 5 c.478G>T r.(?) p.(Gly160Trp) - - - Paternal (confirmed) 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 - DNA PCR, SEQ - - VWD-1 - PubMed: Goodeve et al., 2007 - F ? Czech Republic - - 0 - - 1 Daniel J Hampshire
+/+? 5 c.497A>T r.(?) p.(Asn166Ile) - - - Maternal (confirmed) 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 - DNA PCR, SEQ - - VWD-1 - PubMed: Goodeve et al., 2007 - F ? Czech Republic - - 0 - - 1 Daniel J Hampshire
?/. - c.512A>T r.(?) p.(Asp171Val) - - - Unknown - VUS g.6219560T>A - - - VWF_001032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 5_5i c.521_532+3dup r.(spl?) p.? - - - Paternal (confirmed) EAHAD-CFDB VUS g.6219539_6219553dup g.6110373_6110387dup - - VWF_000018 - PubMed: Kakela et al., 2006 - - Germline ? - - 0 - DNA DHPLC, PCR, SEQ - - VWD-3 - PubMed: Kakela et al., 2006 - ? ? (United States) - - 0 - - 1 Daniel J Hampshire
-?/. - c.532+17T>C r.(=) p.(=) - - - Unknown - likely benign g.6219523A>G g.6110357A>G - - VWF_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.533-43A>C r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6204793T>G g.6095627T>G - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. 5i c.533-43A>C r.(=) p.(=) - - - Unknown EAHAD-CFDB unclassified g.6204793T>G g.6095627T>G - - VWF_000825 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
+/+? 5i c.533-2A>G r.533_657del p.Thr179Profs*31 - - - Both (homozygous) 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 - DNA, RNA PCR, RT-PCR, SEQ - - VWD-3 - PubMed: Corrales et al., 2011 - F ? (Spain) - - 0 - - 1 Daniel J Hampshire
+?/. 5i c.533-2A>G r.spl? p.? - - - Unknown EAHAD-CFDB unclassified g.6204752T>C g.6095586T>C - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5i c.533-2A>G r.spl? p.? - - - Both (homozygous) EAHAD-CFDB unclassified g.6204752T>C g.6095586T>C - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
+?/. 5i c.533-2A>G r.spl? p.? - - - Unknown EAHAD-CFDB unclassified g.6204752T>C g.6095586T>C - - VWF_000034 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-2 - PubMed: Borràs et al., 2017 - M ? Spain - - 0 - - 1 Irene Corrales Insa
?/. - c.546G>A r.(?) p.(Ser182=) - - - Unknown - VUS g.6204737C>T g.6095571C>T - - VWF_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.546G>A r.(=) p.(Ser182=) - - - Unknown EAHAD-CFDB unclassified g.6204737C>T g.6095571C>T - - VWF_000781 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-1 - PubMed: Borràs et al., 2017 Related to individual 00181060 F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. 6 c.546G>A r.(=) p.(Ser182=) - - - Unknown EAHAD-CFDB unclassified g.6204737C>T g.6095571C>T - - VWF_000781 - PubMed: Borràs et al., 2017 - - Unknown ? - - 0 - DNA PCRm, SEQ-NG-I - - VWD-3 - PubMed: Borràs et al., 2017 - F ? Spain - - 0 - - 1 Irene Corrales Insa
?/. - c.553T>C r.(?) p.(Tyr185His) - - - Unknown - VUS g.6204730A>G g.6095564A>G - - VWF_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.652C>T r.(?) p.(Gln218*) - - - Both (homozygous) EAHAD-CFDB likely pathogenic g.6204631G>A g.6095465G>A - - VWF_000036 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 - - Unknown ? - - 0 - DNA PCR, SEQ, SSCA - - VWD-3 - PubMed: Baronciani et al., 2000; PubMed: Baronciani et al., 2003 Previously reported as IC7 by Baronciani et al. (2000) F ? Iran - - 0 - - 1 Daniel J Hampshire
-/. - c.657+11A>C r.(=) p.(=) - - - Unknown - benign g.6204615T>G g.6095449T>G - - VWF_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657+11A>C r.(=) p.(=) - - - Parent #1 - likely benign g.6204615T>G g.6095449T>G - - VWF_001010 181 heterozygous; Clinindb (India) Faruq 2020, submtted - rs7980045 Germline - 181/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 181 Mohammed Faruq
-?/. - c.657+11A>C r.(=) p.(=) - - - Both (homozygous) - likely benign g.6204615T>G g.6095449T>G - - VWF_001010 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs7980045 Germline - 8/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 8 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.