GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VWF T28Minsufficiently evaluated pathogenicunknown

(10 web hits)

VWF S40Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
VWF R53Winsufficiently evaluated pathogenicunknown

(6 web hits)

VWF R91Qinsufficiently evaluated pathogenicunknown

(8 web hits)

VWF G131Sinsufficiently evaluated none, f=0.006unknown var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
VWF N318Kinsufficiently evaluated none, f=0.161unknown

(5 web hits)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
VWF T346Iinsufficiently evaluated not reviewed, f=0.005unknown
VWF V471Iinsufficiently evaluated none, f=0.118unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS18942-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
VWF H484Rinsufficiently evaluated not reviewed, f=0.503unknown

(6 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
VWF DW501EGinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
VWF R507Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
VWF C509Rinsufficiently evaluated pathogenicunknown

(2 web hits)

VWF R543Winsufficiently evaluated pathogenicunknown

(44 web hits)

VWF R545Cinsufficiently evaluated pathogenicunknown

(8 web hits)

VWF G550Rinsufficiently evaluated pathogenicunknown

(8 web hits)

VWF W550Cinsufficiently evaluated pathogenicunknown

(3 web hits)

VWF V551Linsufficiently evaluated pathogenicunknown

(2 web hits)

VWF V553Minsufficiently evaluated pathogenicunknown

(14 web hits)

VWF G561Sinsufficiently evaluated pathogenicunknown

(28 web hits)

VWF R578Qinsufficiently evaluated pathogenicunknown

(9 web hits)

VWF R636Hinsufficiently evaluated pathogenicunknown
VWF M740Iinsufficiently evaluated none, f=0.061unknown

(45 web hits)

var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
VWF F751Cinsufficiently evaluated pathogenicunknown

(2 web hits)

VWF SS754RTinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
VWF S761Ninsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19129-1100-36-ASM
VWF T789Ainsufficiently evaluated not reviewed, f=0.431unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
VWF H817Qinsufficiently evaluated none, f=0.039unknown

(11 web hits)

var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
VWF R834Winsufficiently evaluated pathogenicunknown

(71 web hits)

VWF A837Dinsufficiently evaluated none, f=0.007unknown var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
VWF V844Dinsufficiently evaluated pathogenicunknown

(2 web hits)

VWF S850Pinsufficiently evaluated pathogenicunknown

(1 web hit)

VWF Q852Rinsufficiently evaluated not reviewed, f=0.924unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
VWF R854Qlikely pathogenic, f=0.004recessive

Causes type 2N von Willebrand disease in a recessive manner. This defect in coagulation can manifest as excessive bleeding during surgery.

(137 web hits)

var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
VWF I865Tinsufficiently evaluated pathogenicunknown

(5 web hits)

VWF R924Qinsufficiently evaluated not reviewed, f=0.015unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS07357-1100-36-ASM
VWF G967Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
var-GS19026-1100-36-ASM
VWF T1034Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
VWF C1149Rinsufficiently evaluated pathogenicunknown

(80 web hits)

VWF R1205Hinsufficiently evaluated pathogenicunknown

(292 web hits)

VWF V1229Ginsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
VWF N1231Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
VWF R1308Cinsufficiently evaluated pathogenicunknown

(46 web hits)

VWF F1369Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
VWF I1380Vinsufficiently evaluated not reviewed, f=0.036unknown var-GS19017-1100-36-ASM
VWF T1381Ainsufficiently evaluated not reviewed, f=0.712unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
hu34D5B9 exome
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
VWF N1435Sinsufficiently evaluated not reviewed, f=0.034unknown var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
VWF D1472Hinsufficiently evaluated not reviewed, f=0.174unknown

(21 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
VWF S1506Linsufficiently evaluated pathogenicrecessive

This variant is implicated in von Willebrand Disease.

(45 web hits)

VWF V1565Linsufficiently evaluated none, f=0.059unknown

(10 web hits)

var-GS18555-1100-36-ASM
var-GS06994-1100-36-ASM
VWF Y1584Clikely pathogenic, f=0.002dominant

This variant is associated with causing Type 1 von Willebrand disease in a dominant fashion. This hereditary defect in coagulation makes individuals more susceptible to bleeding. Not all carriers of the variant have the disease (incomplete penetrance); type O blood may also be a risk factor. A vWF antigen assay can confirm presence of the disease. Individuals are not usually treated with medication, but prophylactic measures are recommended before surgery and behavioral modification to avoid activities with a high risk of trauma (particularly head trauma) is recommended.

(46 web hits)

var-GS10851-1100-36-ASM
VWF R1659Xinsufficiently evaluated pathogenicunknown

(9 web hits)

VWF P1725Sinsufficiently evaluated none, f=0.007unknown var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
VWF R1852Xinsufficiently evaluated pathogenicunknown
VWF N1885Dinsufficiently evaluated not reviewedunknown
VWF R1888Minsufficiently evaluated not reviewedunknown
VWF S1932Finsufficiently evaluated not reviewedunknown
VWF G1952Sinsufficiently evaluated not reviewedunknown
VWF V1959Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
VWF C2010Rinsufficiently evaluated pathogenicunknown
VWF A2178Sinsufficiently evaluated none, f=0.016unknown

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS07357-1100-36-ASM
VWF R2185Qinsufficiently evaluated none, f=0.070unknown

(5 web hits)

var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
VWF R2287Winsufficiently evaluated pathogenic, f=0.002unknown

This variant is associated with von Willebrand disease.

(13 web hits)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
VWF E2353Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
VWF R2464Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
VWF R2478Qinsufficiently evaluated not reviewed, f=0.000unknown
VWF F2561Yinsufficiently evaluated not reviewed, f=0.040unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
VWF L2629Qinsufficiently evaluated not reviewedunknown
VWF R2635Xinsufficiently evaluated pathogenicunknown
VWF T2666Minsufficiently evaluated not reviewed, f=0.023unknown CGI sample GS00253-DNA_B02_200_37
VWF G2705Runcertain benign, f=0.046unknown

Probably benign, seems to be considered an uncommon polymorphism.

(5 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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Total results: 70

Gene search

"GENE" or "GENE A123C":

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