| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| VWF T28M | insufficiently evaluated pathogenic | unknown |
(10 web hits) | |
| VWF S40I | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19648-1100-36-ASM |
| VWF R53W | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| VWF R91Q | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| VWF G131S | insufficiently evaluated none, f=0.006 | unknown |
| var-GS19020-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19240-1100-36-ASM |
| VWF N318K | insufficiently evaluated none, f=0.161 | unknown |
(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 T346I | insufficiently evaluated not reviewed, f=0.005 | unknown |
| |
| VWF V471I | insufficiently evaluated none, f=0.118 | unknown |
| 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 H484R | insufficiently evaluated not reviewed, f=0.503 | unknown |
(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 DW501EG | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| VWF R507G | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| VWF C509R | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| VWF R543W | insufficiently evaluated pathogenic | unknown |
(44 web hits) | |
| VWF R545C | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| VWF G550R | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| VWF W550C | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| VWF V551L | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| VWF V553M | insufficiently evaluated pathogenic | unknown |
(14 web hits) | |
| VWF G561S | insufficiently evaluated pathogenic | unknown |
(28 web hits) | |
| VWF R578Q | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
| VWF R636H | insufficiently evaluated pathogenic | unknown |
| |
| VWF M740I | insufficiently evaluated none, f=0.061 | unknown |
(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 F751C | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| VWF SS754RT | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| VWF S761N | insufficiently evaluated none, f=0.008 | unknown |
(1 web hit) | var-GS19129-1100-36-ASM |
| VWF T789A | insufficiently evaluated not reviewed, f=0.431 | unknown |
(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 H817Q | insufficiently evaluated none, f=0.039 | unknown |
(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 R834W | insufficiently evaluated pathogenic | unknown |
(71 web hits) | |
| VWF A837D | insufficiently evaluated none, f=0.007 | unknown |
| var-GS18502-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS18517-1100-36-ASM |
| VWF V844D | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| VWF S850P | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| VWF Q852R | insufficiently evaluated not reviewed, f=0.924 | unknown |
(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 R854Q | likely pathogenic, f=0.004 | recessive | 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 I865T | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| VWF R924Q | insufficiently evaluated not reviewed, f=0.015 | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS07357-1100-36-ASM |
| VWF G967D | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19834-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| VWF T1034Del | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18504-1100-36-ASM |
| VWF C1149R | insufficiently evaluated pathogenic | unknown |
(80 web hits) | |
| VWF R1205H | insufficiently evaluated pathogenic | unknown |
(292 web hits) | |
| VWF V1229G | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19025-1100-36-ASM |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| VWF N1231T | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19025-1100-36-ASM |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| VWF R1308C | insufficiently evaluated pathogenic | unknown |
(46 web hits) | |
| VWF F1369I | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19701-1100-36-ASM |
| VWF I1380V | insufficiently evaluated not reviewed, f=0.036 | unknown |
| var-GS19017-1100-36-ASM |
| VWF T1381A | insufficiently evaluated not reviewed, f=0.712 | unknown |
(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 N1435S | insufficiently evaluated not reviewed, f=0.034 | unknown |
| var-GS19017-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| VWF D1472H | insufficiently evaluated not reviewed, f=0.174 | unknown |
(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 S1506L | insufficiently evaluated pathogenic | recessive | This variant is implicated in von Willebrand Disease.
(45 web hits) | |
| VWF V1565L | insufficiently evaluated none, f=0.059 | unknown |
(10 web hits) | var-GS18555-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| VWF Y1584C | likely pathogenic, f=0.002 | dominant | 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 R1659X | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
| VWF P1725S | insufficiently evaluated none, f=0.007 | unknown |
| var-GS18502-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS18517-1100-36-ASM |
| VWF R1852X | insufficiently evaluated pathogenic | unknown |
| |
| VWF N1885D | insufficiently evaluated not reviewed | unknown |
| |
| VWF R1888M | insufficiently evaluated not reviewed | unknown |
| |
| VWF S1932F | insufficiently evaluated not reviewed | unknown |
| |
| VWF G1952S | insufficiently evaluated not reviewed | unknown |
| |
| VWF V1959M | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| VWF C2010R | insufficiently evaluated pathogenic | unknown |
| |
| VWF A2178S | insufficiently evaluated none, f=0.016 | unknown |
(1 web hit) | CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS07357-1100-36-ASM |
| VWF R2185Q | insufficiently evaluated none, f=0.070 | unknown |
(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 R2287W | insufficiently evaluated pathogenic, f=0.002 | unknown | This variant is associated with von Willebrand disease.
(13 web hits) | var-GS19239-1100-36-ASM |
| var-GS19240-1100-36-ASM |
| VWF E2353D | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS19025-1100-36-ASM |
| VWF R2464H | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19017-1100-36-ASM |
| VWF R2478Q | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| VWF F2561Y | insufficiently evaluated not reviewed, f=0.040 | unknown |
| 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 L2629Q | insufficiently evaluated not reviewed | unknown |
| |
| VWF R2635X | insufficiently evaluated pathogenic | unknown |
| |
| VWF T2666M | insufficiently evaluated not reviewed, f=0.023 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
| VWF G2705R | uncertain benign, f=0.046 | unknown | 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 |