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ISTH-SSC Genomics in Thrombosis and Hemostasis (KU Leuven, Center for Molecular and Vascular Biology), ISTH-SSC GinTH

General information

ISTH-SSC Genomics in Thrombosis and Hemostasis, ISTH-SSC GinTH
KU Leuven, Center for Molecular and Vascular Biology
Leuven
Belgium
https://www.isth.org/members/group.aspx?id=104628
Organization ID: 507739

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 916

Gene

GeneSubmissionsLast Updated
ABCG511Sep 1, 2022
ABCG86Sep 1, 2022
ACTB3Sep 1, 2022
ACTN129Jul 5, 2023
ADAMTS138Jul 5, 2023
ANKRD2615Jul 5, 2023
AP3B12May 11, 2022
AP3D13Sep 1, 2022
BLOC1S31Sep 1, 2022
CP2Sep 1, 2022
CYCS8Sep 1, 2022
DIAPH11Sep 2, 2022
DYNC2LI18Sep 1, 2022
EFCAB13-DT4Jul 5, 2023
ETV69Jul 5, 2023
F1017Jul 5, 2023
F10-AS15Jul 5, 2023
F1134Jul 5, 2023
F11-AS18Jul 5, 2023
F125Jul 5, 2023
F13A16Jul 5, 2023
F13B2Jul 5, 2023
F26Sep 1, 2022
F523Jul 5, 2023
F737Jul 5, 2023
F826Jul 5, 2023
F912Jul 5, 2023
FERMT31Sep 1, 2022
FGA8Jul 5, 2023
FGB9Jul 5, 2023
FGG12Jul 5, 2023
FLI17Sep 1, 2022
FLNA7Jul 5, 2023
GATA16Jul 5, 2023
GFI1B12Jul 5, 2023
GP1BA42Jul 6, 2023
GP1BB24Jul 5, 2023
GP61Sep 7, 2022
GP97Jul 5, 2023
HPS15Jul 5, 2023
HPS33Sep 1, 2022
HPS43Sep 7, 2022
HPS55Jun 16, 2022
HPS64Sep 1, 2022
HRG6Sep 1, 2022
HRG-AS16Sep 1, 2022
IKZF57Sep 6, 2023
ITGA2B44Jul 5, 2023
ITGB324Jul 5, 2023
KNG11Sep 1, 2022
LIX1L-AS11May 10, 2022
LOC1079880321May 10, 2022
LOC1244184211May 10, 2022
LOC1268058511May 10, 2022
LOC1268060632Sep 7, 2022
LOC1268614524Sep 1, 2022
LOC1268631374Sep 1, 2022
LOC1300045781Jun 16, 2022
LOC1300054041Jun 16, 2022
LOC1300600442Jul 6, 2023
LOC1300610431Apr 8, 2022
LOC1300610441May 11, 2022
LYST12Sep 7, 2022
MECOM4Sep 1, 2022
MED12L3Jul 5, 2023
MIR46851Jul 5, 2023
MPIG6B1May 10, 2022
MPL4Jul 5, 2023
MYH940Jul 5, 2023
NBEAL220Jul 5, 2023
P2RY123Jul 5, 2023
PI4KA5Jul 5, 2023
PIGA1Apr 1, 2022
PLG8Jul 5, 2023
PROC32Jul 5, 2023
PROS133Jul 5, 2023
PTGS13Jul 5, 2023
RASGRP27Sep 7, 2022
RBM8A3May 10, 2022
RUNX128Jul 24, 2023
RUNX1-AS111Jul 5, 2023
SEPT5-GP1BB24Jul 5, 2023
SERPINC122Jul 5, 2023
SERPIND15Jul 5, 2023
SERPINE16Jul 5, 2023
SLC34A12Sep 1, 2022
SLFN145Sep 1, 2022
SRC2Jul 5, 2023
STIM16Sep 1, 2022
TBXA2R5Sep 1, 2022
TBXAS11Jun 16, 2022
THBD8Jul 5, 2023
THPO3Jul 5, 2023
TUBB130Jul 5, 2023
VKORC11Sep 1, 2022
VPS33B1Sep 1, 2022
VWF109Jul 5, 2023
WAS14Jul 5, 2023

Condition

NameSubmissionsLast Updated
Afibrinogenemia8May 10, 2022
Arthrogryposis, renal dysfunction, and cholestasis 11Sep 1, 2022
Autosomal dominant nonsyndromic hearing loss 11Sep 2, 2022
Bernard Soulier syndrome41Jul 6, 2023
Bernard-Soulier syndrome, type A2, autosomal dominant21Jul 5, 2023
Bleeding disorder, platelet-type, 13, susceptibility to5Sep 1, 2022
Bleeding disorder, platelet-type, 217Sep 1, 2022
Bleeding disorder, platelet-type, 244Jul 5, 2023
Chédiak-Higashi syndrome12Sep 7, 2022
Congenital afibrinogenemia6Sep 2, 2022
Congenital amegakaryocytic thrombocytopenia4Jul 5, 2023
Congenital factor VII deficiency35Jul 5, 2023
Congenital plasminogen activator inhibitor type 1 deficiency2May 10, 2022
Congenital prothrombin deficiency2May 11, 2022
Deep venous thrombosis5Apr 1, 2022
Factor V deficiency13Sep 1, 2022
Factor VII deficiency2Jan 10, 2022
Factor X deficiency2Jan 10, 2022
Factor XII deficiency disease3Jul 5, 2023
Factor XIII, A subunit, deficiency of5Jul 5, 2023
Factor XIII, b subunit, deficiency of1Apr 1, 2022
Familial dysfibrinogenemia11Jul 5, 2023
Gastrointestinal hemorrhage1Sep 1, 2022
Ghosal hematodiaphyseal dysplasia1Jun 16, 2022
Glanzmann thrombasthenia 145Jul 5, 2023
Glanzmann thrombasthenia 27Sep 2, 2022
Gray platelet syndrome20Jul 5, 2023
Hemorrhage12Jul 5, 2023
Heparin cofactor II deficiency3May 10, 2022
Hereditary angioedema type 31Sep 1, 2022
Hereditary antithrombin deficiency22Jul 5, 2023
Hereditary factor IX deficiency disease11May 10, 2022
Hereditary factor VIII deficiency disease25Jul 5, 2023
Hereditary factor X deficiency disease15Jul 5, 2023
Hereditary factor XI deficiency disease34Jul 5, 2023
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX128Jul 24, 2023
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency5May 10, 2022
Hereditary von Willebrand disease31May 11, 2022
Hermansky-Pudlak syndrome 15Jul 5, 2023
Hermansky-Pudlak syndrome 24May 11, 2022
Hermansky-Pudlak syndrome 33Sep 1, 2022
Hermansky-Pudlak syndrome 43Sep 7, 2022
Hermansky-Pudlak syndrome 55Jun 16, 2022
Hermansky-Pudlak syndrome 64Sep 1, 2022
Hermansky-Pudlak syndrome 81Sep 1, 2022
Leukocyte adhesion deficiency 31Sep 1, 2022
Macrothrombocytopenia6Jun 16, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss38Jul 5, 2023
Macrothrombocytopenia, isolated, 1, autosomal dominant30Jul 5, 2023
Mild macrothrombocytopenia3May 11, 2022
Ocular albinism1Sep 1, 2022
Paroxysmal nocturnal hemoglobinuria 11Apr 1, 2022
Plasminogen deficiency, type I2Jul 5, 2023
Platelet-type bleeding disorder 111Sep 7, 2022
Platelet-type bleeding disorder 1529Jul 5, 2023
Platelet-type bleeding disorder 1612Jul 5, 2023
Platelet-type bleeding disorder 1712Jul 5, 2023
Platelet-type bleeding disorder 187Sep 7, 2022
Platelet-type bleeding disorder 205Sep 1, 2022
Platelet-type bleeding disorder 83Jul 5, 2023
Protein S deficiency disease15May 10, 2022
Pseudo von Willebrand disease7May 10, 2022
Radial aplasia-thrombocytopenia syndrome3May 10, 2022
Radioulnar synostosis with amegakaryocytic thrombocytopenia 24Sep 1, 2022
Reduced protein C activity11May 10, 2022
Sitosterolemia 110Sep 1, 2022
Sitosterolemia 25Sep 1, 2022
Stormorken syndrome6Sep 1, 2022
Thrombocytopenia22Jul 5, 2023
Thrombocytopenia 14Sep 1, 2022
Thrombocytopenia 215Jul 5, 2023
Thrombocytopenia 48Sep 1, 2022
Thrombocytopenia 59Jul 5, 2023
Thrombocytopenia 62Jul 5, 2023
Thrombocytopenia 77Sep 6, 2023
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia6Jul 5, 2023
Thrombocytopenia, anemia, and myelofibrosis1May 10, 2022
Thrombomodulin-related bleeding disorder6Jul 5, 2023
Thrombophilia due to activated protein C resistance7Jul 5, 2023
Thrombophilia due to protein C deficiency, autosomal dominant21Jul 5, 2023
Thrombophilia due to protein S deficiency, autosomal dominant18Jul 5, 2023
Thrombophilia due to thrombin defect5Jul 5, 2023
Thrombus19Jul 5, 2023
Upshaw-Schulman syndrome5Jul 5, 2023
Wiskott-Aldrich syndrome8Jul 5, 2023
von Willebrand disease type 145Jul 5, 2023
von Willebrand disease type 218Jul 5, 2023
von Willebrand disease type 33Jul 5, 2023