Full data view for gene VWF

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

1223 entries on 13 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/SIFT     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-1927T>G r.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6235513A>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6235513A>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6235513A>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6235513A>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6235513A>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.(=) EAHAD-CFDB: ? p.(=) - - - Unknown 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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6235054G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6236213G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234989G>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.(=) EAHAD-CFDB: ? p.(=) - - - Parent #2 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.(=) EAHAD-CFDB: ? p.(=) - - - Parent #2 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.(=) EAHAD-CFDB: ? p.(=) - - - Unknown 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.(=) EAHAD-CFDB: ? p.(=) - - - Parent #1 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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234439T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234439T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234439T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234439T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234438T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234405G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234405G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234405G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234405G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234405G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234258G>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234237C>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234237C>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234237C>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234235T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6234012C>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6233724T>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.(?) likely benign p.(=) - - - Unknown g.6233698A>T - VWF(NM_000552.3):c.-112T>A (p.?) - VWF_001016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-112T>C r.(?) likely benign p.(=) - - - Unknown g.6233698A>G - VWF(NM_000552.3):c.-112T>C (p.?) - VWF_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_52_ c.(?_-1)_(*1_?)del r.0 EAHAD-CFDB: . p.0 - - - Paternal (inferred) 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
+/+? 27i_28 c.3675-45_3692con[NG_001212.4:g.6361_6423] r.(?) EAHAD-CFDB: +? p.[(Val1229Gly;Asn1231Thr)] - - - Maternal (confirmed) g.6128892_6128954conNC_000022.11:17179029_17179091 - - - VWF_000183 - PubMed: Eikenboom et al., 1998 - - Germline yes - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: Eikenboom et al., 1998 - M no Italy - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3686_3692con[NG_001212.4:g.6417_6423] r.(?) EAHAD-CFDB: +? p.[(Val1229Gly;Asn1231Thr)] - - - Parent #1 g.6128892_6128898conNC_000022.11:17179029_17179035 - - - VWF_000186 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3686_3692con[NG_001212.4:g.6417_6423] r.(?) EAHAD-CFDB: +? p.[(Val1229Gly;Asn1231Thr)] - - - Parent #1 g.6128892_6128898conNC_000022.11:17179029_17179035 - - - VWF_000186 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3686_3692con[NG_001212.4:g.6417_6423] r.(?) EAHAD-CFDB: +? p.[(Val1229Gly;Asn1231Thr)] - - - Parent #1 g.6128892_6128898conNC_000022.11:17179029_17179035 - - - VWF_000186 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3789_3797con[NG_001212.4:g.6520_6528] r.(=) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu)] - - - Maternal (confirmed) g.6128787_6128795conNC_000022.11:17178924_17178932 - - - VWF_000194 - PubMed: Holmberg et al., 1993 - - Germline yes - - 0 - DNA PCR, SEQ - - VWD-2 - PubMed: Holmberg et al., 1993 - F ? Germany - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3789_3797con[NG_001212.4:g.6520_6528] r.(?) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu)] - - - Unknown g.6128787_6128795conNC_000022.11:17178924_17178932 - - - VWF_000194 - PubMed: Holmberg et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-2 - PubMed: Holmberg et al., 1993 - F ? Bermuda - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3789_3835con[NG_001212.4:g.6520_6566] r.(?) EAHAD-CFDB: +? p.[(Ser1263=;Pro1266Leu;Val1279Ile)] - - - Parent #1 g.6128749_6128795conNC_000022.11:17178886_17178932 - - - VWF_000646 - PubMed: Eikenboom et al., 1993 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: Eikenboom et al., 1993 - F no (Netherlands) - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3797_3835con[NG_001212.4:g.6528_6566] r.(?) EAHAD-CFDB: +? p.[(Pro1266Leu;Val1279Ile)] - - - Parent #2 g.6128749_6128787conNC_000022.11:17178886_17178924 - - - VWF_000189 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3797_3835con[NG_001212.4:g.6528_6566] r.(?) EAHAD-CFDB: +? p.[(Pro1266Leu;Val1279Ile)] - - - Unknown g.6128749_6128787conNC_000022.11:17178886_17178924 - - - VWF_000189 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3797_3835con[NG_001212.4:g.6528_6566] r.(?) EAHAD-CFDB: +? p.[(Pro1266Leu;Val1279Ile)] - - - Unknown g.6128749_6128787conNC_000022.11:17178886_17178924 - - - VWF_000189 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3797_3835con[NG_001212.4:g.6528_6566] r.(?) EAHAD-CFDB: +? p.[(Pro1266Leu;Val1279Ile)] - - - Unknown g.6128749_6128787conNC_000022.11:17178886_17178924 - - - VWF_000189 - PubMed: James et al., 2007a - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-1 - PubMed: James et al., 2007a - ? ? Canada - - 0 - - 1 Daniel J Hampshire
+/+? 28 c.3835_4105con[NG_001212.4:g.6566_6836] r.(?) EAHAD-CFDB: +? p.[(Val1279Ile;Gln1311*)] - - - Both (homozygous) g.6128479_6128749conNC_000022.11:17178616_17178886 - - - VWF_000658 - PubMed: Corrales et al., 2009 - - Unknown ? - - 0 - DNA PCR, SEQ - - VWD-3 - PubMed: Corrales et al., 2009 - ? yes (Spain) - - 0 - - 1 Daniel J Hampshire
+?/. 28 c.3835_4105con[NG_001212.4:g.6566_6836] r.(?) EAHAD-CFDB: . p.[(Val1279Ile;Gln1311*)] - - - Both (homozygous) g.6128479_6128749conNC_000022.11:17178616_17178886 - - - VWF_000658 - 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.1-20C>T r.(=) benign p.(=) - - - Unknown g.6232382G>A - VWF(NM_000552.3):c.1-20C>T (p.?) - VWF_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.55G>A r.(?) EAHAD-CFDB: . p.(Gly19Arg) - - - Paternal (confirmed) 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.(?) EAHAD-CFDB: . p.(Gly19Arg) - - - Unknown g.6232308C>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.(=) benign p.(=) - - - Unknown g.6232300G>T - VWF(NM_000552.3):c.55+8C>A - VWF_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.55+69A>G r.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6232239T>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.(?) EAHAD-CFDB: . p.(Arg34Gly) - - - Both (homozygous) 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.(?) EAHAD-CFDB: . p.(Arg34*) - - - Both (homozygous) 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.(?) EAHAD-CFDB: . p.(Arg34*) - - - Both (homozygous) g.6230460G>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.(?) EAHAD-CFDB: . p.(Arg34*) - - - Both (homozygous) g.6230460G>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.(?) likely benign p.(=) - - - Unknown g.6230446G>A - VWF(NM_000552.3):c.114C>T (p.=) - VWF_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) likely benign p.(=) - - - Unknown g.6230446G>A - VWF(NM_000552.3):c.114C>T (p.=) - VWF_000782 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.139G>C r.(?) EAHAD-CFDB: . p.(Asp47His) - - - Both (homozygous) 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.(?) EAHAD-CFDB: . p.(Ser49Arg) - - - Paternal (confirmed) 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.(?) EAHAD-CFDB: . p.(Cys57*) - - - Both (homozygous) 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.(?) EAHAD-CFDB: . p.(Gly64Alafs*19) - - - Both (homozygous) g.6230369del g.6121203del - - 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.(?) EAHAD-CFDB: . p.(Ser71*) - - - Both (homozygous) 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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6230240C>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6230240C>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6220204C>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] EAHAD-CFDB: + p.[=, Gln77*] - - - Maternal (confirmed) 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.(?) EAHAD-CFDB: . p.(Ser83*) - - - Unknown g.6220108_6220109insA - - - 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.(?) EAHAD-CFDB: . p.(Leu84Phe) - - - Unknown g.6220105G>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.(?) VUS p.(Leu84Phe) - - - Unknown g.6220105G>A - VWF(NM_000552.3):c.250C>T (p.(Leu84Phe)) - VWF_000907 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.253T>C r.(?) EAHAD-CFDB: . p.(Ser85Pro) - - - Parent #1 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 EAHAD-CFDB: . p.Tyr87Ser - - - Maternal (confirmed) 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.(?) EAHAD-CFDB: . p.(Phe92Leufs*11) - - - Parent #1 g.6220079del g.6110913del - - 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.(?) EAHAD-CFDB: . p.(Asp93*) - - - Maternal (confirmed) g.6220079dup g.6110913dup - - 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? EAHAD-CFDB: . p.? - - - Unknown g.6219746_6219750dup - - - 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.(?) EAHAD-CFDB: ? p.(Gly125Valfs*3) - - - Paternal (confirmed) g.6219685_6219698del g.6110519_6110532del - - 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.(?) EAHAD-CFDB: +? p.(Tyr126Thrfs*49) - - - Both (homozygous) 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.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - Unknown g.6219696_6219697delinsG - - - 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.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - Unknown g.6219696_6219697delinsG - - - 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.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - Unknown g.6219696_6219697delinsG - - - 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.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - Both (homozygous) g.6219696_6219697delinsG - - - 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.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - Both (homozygous) g.6219696_6219697delinsG - - - 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.(?) EAHAD-CFDB: . p.(Tyr126Thrfs*49) - - - Both (homozygous) g.6219696_6219697delinsG - - - 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.(?) EAHAD-CFDB: ? p.(Leu129Met) - - - Unknown 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.(?) benign p.(=) - - - Unknown g.6219682G>A - VWF(NM_000552.3):c.390C>T (p.(=)) - VWF_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.421G>A r.(?) EAHAD-CFDB: +? p.(Asp141Asn) - - - Both (homozygous) 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.(?) EAHAD-CFDB: +? p.(Asp141Tyr) - - - Parent #1 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.(?) EAHAD-CFDB: +? p.(Asp141Gly) - - - Unknown 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.(?) EAHAD-CFDB: +? p.(Leu150Gln) - - - Paternal (confirmed) 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.(?) EAHAD-CFDB: +? p.(Leu150Gln) - - - Maternal (inferred) 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.(?) EAHAD-CFDB: +? p.(Leu150Pro) - - - Unknown 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.(?) EAHAD-CFDB: . p.(Leu150Pro) - - - Unknown g.6219623A>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.(?) EAHAD-CFDB: . p.(Gly160Arg) - - - Unknown g.6219594C>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.(?) EAHAD-CFDB: +? p.(Gly160Trp) - - - Paternal (confirmed) 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.(?) EAHAD-CFDB: +? p.(Asn166Ile) - - - Maternal (confirmed) 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
+?/? 5_5i c.521_532+3dup r.(spl?) EAHAD-CFDB: ? p.? - - - Paternal (confirmed) g.6219537_6219551dup g.6110371_6110385dup - - 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.(=) likely benign p.(=) - - - Unknown g.6219523A>G - VWF(NM_000552.3):c.532+17T>C (p.?) - VWF_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.533-43A>C r.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6204793T>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.(=) EAHAD-CFDB: . p.(=) - - - Unknown g.6204793T>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 EAHAD-CFDB: +? p.Thr179Profs*31 - - - Both (homozygous) 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? EAHAD-CFDB: . p.? - - - Unknown g.6204752T>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
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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.