Full data view for gene VWA1

Information The variants shown are described using the NM_022834.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
-?/. - c.60C>T r.(?) p.(=) Unknown - likely benign g.1371188C>T - VWA1(NM_022834.5):c.60C>T (p.S20=) - VWA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam1 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam2 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Parent #1 - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam3 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam4 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carriermother M - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam5 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam6 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam7 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Parent #1 - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam8 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam9 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam10 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 2 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 2 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam Pagnamenta ESHG2020 C20.1 2-generation family, affected male twins, unaffected parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.62_71dup r.(?) p.(Gly25Argfs*74) Both (homozygous) - pathogenic (recessive) g.1371190_1371199dup g.1435810_1435819dup - - VWA1_000004 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
-/. - c.73+258A>G r.(=) p.(=) Unknown - benign g.1371459A>G - VWA1(NM_022834.5):c.73+258A>G - VWA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.220A>C^222T>R r.(?) p.(Ser74del) Parent #2 - pathogenic (recessive) g.1372453A>C^1372455T>R - S74R - VWA1_000005 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam3 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.252C>T r.(?) p.(=) Unknown - likely benign g.1372485C>T - VWA1(NM_022834.5):c.252C>T (p.T84=) - VWA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321C>T r.(?) p.(=) Unknown - likely benign g.1372554C>T - VWA1(NM_022834.5):c.321C>T (p.R107=) - VWA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.455del r.(?) p.(Gly152Alafs*54) Unknown - pathogenic g.1372688del - VWA1(NM_022834.5):c.455delG (p.G152Afs*54) - VWA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463del r.(?) p.(Met155Cysfs*51) Both (homozygous) - pathogenic (recessive) g.1372696del g.1437316del - - VWA1_000007 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam Pagnamenta ESHG2020 C20.1 5-generation family, 2 affected (2M), unaffected parents M - - - - - - - 1 Johan den Dunnen
-/. - c.540C>T r.(?) p.(=) Unknown - benign g.1372773C>T - VWA1(NM_022834.5):c.540C>T (p.A180=) - VWA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899G>A r.(?) p.(Arg300His) Unknown - VUS g.1374728G>A g.1439348G>A VWA1(NM_022834.4):c.899G>A (p.(Arg300His)) - VWA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.933G>A r.(?) p.(=) Unknown - benign g.1374762G>A - VWA1(NM_022834.5):c.933G>A (p.S311=) - ATAD3C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1005A>G r.(?) p.(=) Unknown - benign g.1374834A>G - VWA1(NM_022834.5):c.1005A>G (p.P335=) - ATAD3C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080G>A r.(?) p.(=) Unknown - benign g.1374909G>A - VWA1(NM_022834.5):c.1080G>A (p.A360=) - ATAD3C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1099C>T r.(?) p.(Gln367*) Parent #2 - pathogenic (recessive) g.1374928C>T g.1439548C>T - - VWA1_000006 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Fam8 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1132C>T r.(?) p.(Arg378Trp) Unknown - VUS g.1374961C>T g.1439581C>T VWA1(NM_022834.4):c.1132C>T (p.(Arg378Trp)), VWA1(NM_022834.5):c.1132C>T (p.R378W) - VWA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1132C>T r.(?) p.(Arg378Trp) Unknown - benign g.1374961C>T - VWA1(NM_022834.4):c.1132C>T (p.(Arg378Trp)), VWA1(NM_022834.5):c.1132C>T (p.R378W) - VWA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295_1301del r.(?) p.(Val432Alafs*105) Unknown - VUS g.1375124_1375130del - VWA1(NM_022834.5):c.1295_1301delTGCCCCG (p.V432Afs*105) - ATAD3C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1312C>A r.(?) p.(Pro438Thr) Unknown - VUS g.1375141C>A g.1439761C>A VWA1(NM_022834.4):c.1312C>A (p.(Pro438Thr)) - VWA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4G>A r.(=) p.(=) Unknown - likely benign g.1375171G>A - VWA1(NM_022834.5):c.*4G>A - ATAD3C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18G>C r.(=) p.(=) Unknown - benign g.1375185G>C - VWA1(NM_022834.5):c.*18G>C - ATAD3C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15739C>T r.(=) p.(=) Unknown - likely benign g.1390906C>T - ATAD3C(NM_001039211.3):c.438+7C>T - ATAD3C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*28634A>C r.(=) p.(=) Unknown - VUS g.1403801A>C - ATAD3C(NM_001039211.3):c.1127A>C (p.(Glu376Ala)) - ATAD3B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*32114G>A r.(=) p.(=) Unknown - VUS g.1407281G>A g.1471901G>A ATAD3B(NM_031921.5):c.17G>A (p.G6D) - ATAD3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*32116G>A r.(=) p.(=) Unknown - likely benign g.1407283G>A - ATAD3B(NM_031921.5):c.19G>A (p.V7I) - ATAD3B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.