ClinVar Miner

Variants from ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Location: Belgium  Primary collection method: clinical testing
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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
171 285 407 10 5 864

Gene and significance breakdown #

Total genes and gene combinations: 95
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VWF 19 27 50 2 0 96
ITGA2B 19 10 14 0 0 43
F7 3 14 18 0 0 35
GP1BA 13 11 12 0 0 35
MYH9 12 12 11 1 0 35
F11 6 12 15 0 0 32
PROC 1 15 15 0 1 32
TUBB1 3 2 24 0 1 30
ACTN1 6 5 15 3 0 29
PROS1 3 11 17 0 0 29
RUNX1 8 5 12 0 2 27
F8 7 15 3 1 0 26
GP1BB, SEPT5-GP1BB 7 9 8 0 0 23
SERPINC1 2 11 9 0 0 22
F5 3 4 14 0 0 21
NBEAL2 1 13 6 0 0 20
ANKRD26 4 10 1 0 0 15
F10 2 9 4 0 0 15
ITGB3 5 7 6 0 0 15
F9 2 6 4 0 0 12
GFI1B 3 3 5 1 0 12
WAS 4 3 6 0 0 12
LYST 0 3 7 0 0 10
FGG 2 3 4 0 0 9
ADAMTS13 0 4 4 0 0 8
CYCS 0 3 5 0 0 8
THBD 0 0 8 0 0 8
FGA 0 5 3 0 0 7
FGB 1 0 6 0 0 7
FLI1 2 3 2 0 0 7
GP9 4 1 2 0 0 7
IKZF5 2 4 1 0 0 7
RASGRP2 3 3 1 0 0 7
ABCG5, DYNC2LI1 3 1 2 0 0 6
F13A1 0 3 3 0 0 6
F2 1 2 3 0 0 6
FLNA 0 1 4 1 0 6
GATA1 3 2 1 0 0 6
PLG 0 0 6 0 0 6
ETV6 2 3 0 0 0 5
F12 0 2 3 0 0 5
HRG 0 0 5 0 0 5
PI4KA, SERPIND1 0 1 4 0 0 5
SERPINE1 0 0 4 1 0 5
SLFN14 0 2 3 0 0 5
STIM1 0 1 4 0 0 5
TBXA2R 0 1 4 0 0 5
ABCG8 2 0 2 0 0 4
EFCAB13-DT, ITGB3 1 0 3 0 0 4
ETV6, LOC126861452 0 1 3 0 0 4
HPS1 2 0 2 0 0 4
HPS5 1 0 3 0 0 4
LOC126863137, MYH9 0 2 2 0 0 4
MECOM 0 2 2 0 0 4
MPL 0 1 3 0 0 4
ABCG5 0 0 3 0 0 3
ACTB 0 0 3 0 0 3
AP3D1 0 0 3 0 0 3
HPS4 1 0 2 0 0 3
HPS6 0 2 0 0 1 3
MED12L, P2RY12 0 3 0 0 0 3
PTGS1 0 0 3 0 0 3
THPO 2 1 0 0 0 3
AP3B1 0 1 1 0 0 2
CP, HPS3 1 0 1 0 0 2
F13B 0 0 2 0 0 2
GP1BA, LOC130060044 1 0 1 0 0 2
LOC126806063, LYST 0 2 0 0 0 2
SRC 0 1 1 0 0 2
ADPRHL1, ANKRD10, ARHGEF7, ATP11A, ATP11AUN, ATP4B, C13orf46, CARS2, CDC16, CFAP97D2, CHAMP1, COL4A1, COL4A2, CUL4A, DCUN1D2, F10, F7, GAS6, GAS6-DT, GRK1, GRTP1, ING1, IRS2, LAMP1, LINC00354, LINC00368, LINC00370, LINC00396, LINC00399, LINC00404, LINC00431, LINC00452, LINC00454, LINC00552, LINC00567, LINC00676, LINC01043, LINC01044, LINC01070, LINC02337, LINC03032, LINC03061, LINC03082, LOC100506016, LOC101060553, LOC101928730, LOC102725228, LOC105370362, LOC107992391, LOC110121336, LOC112163643, LOC112163644, LOC112163645, LOC112163646, LOC116268457, LOC121468007, LOC121838584, LOC124946339, LOC124946340, LOC124946341, LOC124946342, LOC124946343, LOC124946344, LOC124946345, LOC124946346, LOC124946347, LOC124946348, LOC126861846, LOC126861847, LOC126861848, LOC126861849, LOC126861850, LOC126861851, LOC126861852, LOC126861853, LOC126861854, LOC126861855, LOC126861856, LOC126861857, LOC126861858, LOC126861859, LOC126861860, LOC126861861, LOC126861862, LOC126861863, LOC126861864, LOC126861865, LOC126861866, LOC126861867, LOC126861868, LOC126861869, LOC126861870, LOC126861871, LOC126861872, LOC126861873, LOC126861874, LOC126861875, LOC126861876, LOC126861877, LOC128772388, LOC128772389, LOC128772390, LOC128772391, LOC128772392, LOC128772393, LOC129390610, LOC130010099, LOC130010100, LOC130010101, LOC130010102, LOC130010103, LOC130010104, LOC130010105, LOC130010106, LOC130010107, LOC130010108, LOC130010109, LOC130010110, LOC130010111, LOC130010112, LOC130010113, LOC130010114, LOC130010115, LOC130010116, LOC130010117, LOC130010118, LOC130010119, LOC130010120, LOC130010121, LOC130010122, LOC130010123, LOC130010124, LOC130010125, LOC130010126, LOC130010127, LOC130010128, LOC130010129, LOC130010130, LOC130010131, LOC130010132, LOC130010133, LOC130010134, LOC130010135, LOC130010136, LOC130010137, LOC130010138, LOC130010139, LOC130010140, LOC130010141, LOC130010142, LOC130010143, LOC130010144, LOC130010145, LOC130010146, LOC130010147, LOC130010148, LOC130010149, LOC130010150, LOC130010151, LOC130010152, LOC130010153, LOC130010154, LOC130010155, LOC130010156, LOC130010157, LOC130010158, LOC130010159, LOC130010160, LOC130010161, LOC130010162, LOC130010163, LOC130010164, LOC130010165, LOC130010166, LOC130010167, LOC130010168, LOC130010169, LOC130010170, LOC130010171, LOC130010172, LOC130010173, LOC130010174, LOC130010175, LOC130010176, LOC130010177, LOC130010178, LOC130010179, LOC130010180, LOC130010181, LOC130010182, LOC130010183, LOC130010184, LOC130010185, LOC130010186, LOC130010187, LOC130010188, LOC130010189, LOC130010190, LOC130010191, LOC130010192, LOC130010193, LOC130010194, LOC130010195, LOC130010196, LOC130010197, LOC130010198, LOC130010199, LOC130010200, LOC130010201, LOC130010202, LOC130010203, LOC130010204, LOC130010205, LOC130010206, LOC130010207, LOC130010208, LOC130010209, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, LOC130494219, LOC132090172, LOC132090173, LOC132090174, MCF2L, MIR4502, MIR548AR, MIR8073, MIR8075, MYO16, NAXD, PCID2, PRECSIT, PROZ, RAB20, RASA3, RASA3-IT1, SLC9D1, SOX1, SOX1-OT, SPACA7, SWINGN, TEX29, TFDP1, TMEM255B, TUBGCP3, UPF3A 1 0 0 0 0 1
ANKRD10, ANKRD10-IT1, ARHGEF7, ATP11A, ATP11AUN, CARS2, COL4A1, COL4A2, F10, F7, ING1, LINC00567, MCF2L, NAXD, RAB20, SOX1, SPACA7, TEX29, TUBGCP3 0 1 0 0 0 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NBPF10, NOTCH2NLA, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 1
BLOC1S3 0 0 1 0 0 1
CBR1, LINC01436, LOC100506403, LOC101928269, LOC109648314, LOC109648316, LOC109648317, LOC112694741, LOC121627920, LOC121627921, LOC121853028, LOC125418065, LOC125418066, LOC125418067, LOC125418068, LOC126653354, LOC126653355, LOC126653356, LOC126653357, LOC126653358, LOC126653359, LOC126653360, LOC130066593, LOC130066594, LOC130066595, LOC130066596, LOC130066597, LOC130066598, LOC130066599, LOC130066600, LOC130066601, LOC130066602, LOC130066603, LOC130066604, LOC130066605, LOC130066606, LOC130066607, LOC130066608, LOC130066609, LOC130066610, LOC130066611, LOC130066612, LOC130066613, MIR802, RUNX1, RUNX1-IT1, SETD4 0 1 0 0 0 1
CYP4V2, DBET, DUX4, F11, FAT1, FRG1, FRG1-DT, FRG2, KLKB1, LINC01060, LINC01262, LINC01596, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC121725196, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC129389253, LOC129993527, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090718, LOC339975, MTNR1A, TRIML1, TRIML2, ZFP42 0 1 0 0 0 1
DIAPH1 1 0 0 0 0 1
FERMT3 0 0 1 0 0 1
FLNA, LOC107988032 0 0 1 0 0 1
GP6 1 0 0 0 0 1
HPS1, MIR4685 1 0 0 0 0 1
HPS3 0 0 1 0 0 1
HPS5, LOC130005404 0 0 1 0 0 1
HPS6, LOC130004578 0 0 1 0 0 1
ITGB3, LOC130061043 0 1 0 0 0 1
ITGB3, LOC130061044 0 1 0 0 0 1
KNG1 0 0 1 0 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 0 0 1
LOC124418421, STIM1 0 0 1 0 0 1
LOC126806115, LOC126806116, LOC400940, MIR7158, SILC1 0 1 0 0 0 1
MPIG6B 0 1 0 0 0 1
PIGA 0 0 1 0 0 1
RBM8A 1 0 0 0 0 1
TBXAS1 0 1 0 0 0 1
VKORC1 0 0 1 0 0 1
VPS33B 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 87
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Glanzmann thrombasthenia 1 19 14 12 0 0 45
von Willebrand disease type 1 4 14 27 0 0 45
Bernard Soulier syndrome 16 13 12 0 0 41
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11 13 13 1 0 38
Congenital factor VII deficiency 3 14 18 0 0 35
Hereditary factor XI deficiency disease 6 13 15 0 0 32
Hereditary von Willebrand disease 9 10 10 2 0 31
Macrothrombocytopenia, isolated, 1, autosomal dominant 3 2 24 0 1 30
Platelet-type bleeding disorder 15 6 5 15 3 0 29
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 8 6 12 0 2 28
Hereditary factor VIII deficiency disease 7 15 3 0 0 25
Hereditary antithrombin deficiency 2 11 9 0 0 22
Thrombocytopenia 6 3 12 1 0 22
Bernard-Soulier syndrome, type A2, autosomal dominant 4 7 10 0 0 21
Thrombophilia due to protein C deficiency, autosomal dominant 0 10 11 0 0 21
Gray platelet syndrome 1 13 6 0 0 20
Thrombus 0 2 17 0 0 19
Thrombophilia due to protein S deficiency, autosomal dominant 0 6 12 0 0 18
von Willebrand disease type 2 5 7 6 0 0 18
Hereditary factor X deficiency disease 2 9 4 0 0 15
Protein S deficiency disease 3 6 6 0 0 15
Thrombocytopenia 2 4 10 1 0 0 15
Factor V deficiency 2 4 7 0 0 13
Chédiak-Higashi syndrome 0 5 7 0 0 12
Hemorrhage 0 1 10 1 0 12
Platelet-type bleeding disorder 16 4 4 4 0 0 12
Platelet-type bleeding disorder 17 3 3 5 1 0 12
Familial dysfibrinogenemia 2 3 6 0 0 11
Hereditary factor IX deficiency disease 2 6 3 0 0 11
Reduced protein C activity 1 5 4 0 1 11
Sitosterolemia 1 5 0 5 0 0 10
Thrombocytopenia 5 2 4 3 0 0 9
Afibrinogenemia 2 3 3 0 0 8
Thrombocytopenia 4 0 3 5 0 0 8
Wiskott-Aldrich syndrome 2 2 4 0 0 8
Bleeding disorder, platelet-type, 21 2 3 2 0 0 7
Glanzmann thrombasthenia 2 2 2 3 0 0 7
Platelet-type bleeding disorder 18 3 3 1 0 0 7
Pseudo von Willebrand disease 6 1 0 0 0 7
Thrombocytopenia 7 2 4 1 0 0 7
Thrombophilia due to activated protein C resistance 1 1 5 0 0 7
Congenital afibrinogenemia 0 2 4 0 0 6
Macrothrombocytopenia 1 2 3 0 0 6
Stormorken syndrome 0 1 5 0 0 6
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 3 2 1 0 0 6
Thrombomodulin-related bleeding disorder 0 0 6 0 0 6
Bleeding disorder, platelet-type, 13, susceptibility to 0 1 4 0 0 5
Deep venous thrombosis 0 1 4 0 0 5
Factor XIII, A subunit, deficiency of 0 3 2 0 0 5
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 0 0 5 0 0 5
Hermansky-Pudlak syndrome 1 3 0 2 0 0 5
Hermansky-Pudlak syndrome 5 1 0 4 0 0 5
Platelet-type bleeding disorder 20 0 2 3 0 0 5
Sitosterolemia 2 2 1 2 0 0 5
Thrombophilia due to thrombin defect 1 1 3 0 0 5
Upshaw-Schulman syndrome 0 4 1 0 0 5
Bleeding disorder, platelet-type, 24 0 0 4 0 0 4
Congenital amegakaryocytic thrombocytopenia 0 1 3 0 0 4
Hermansky-Pudlak syndrome 2 0 1 3 0 0 4
Hermansky-Pudlak syndrome 6 0 2 1 0 1 4
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 2 2 0 0 4
Thrombocytopenia 1 2 0 2 0 0 4
Factor XII deficiency disease 0 1 2 0 0 3
Heparin cofactor II deficiency 0 0 3 0 0 3
Hermansky-Pudlak syndrome 3 1 0 2 0 0 3
Hermansky-Pudlak syndrome 4 1 0 2 0 0 3
Mild macrothrombocytopenia 0 1 2 0 0 3
Platelet-type bleeding disorder 8 0 3 0 0 0 3
Radial aplasia-thrombocytopenia syndrome 3 0 0 0 0 3
von Willebrand disease type 3 0 0 3 0 0 3
Congenital plasminogen activator inhibitor type 1 deficiency 0 0 1 1 0 2
Congenital prothrombin deficiency 0 1 1 0 0 2
Factor X deficiency; Factor VII deficiency 1 1 0 0 0 2
Plasminogen deficiency, type I 0 0 2 0 0 2
Thrombocytopenia 6 0 1 1 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 1 1 0 0 0 0 1
Factor XIII, b subunit, deficiency of 0 0 1 0 0 1
Gastrointestinal hemorrhage 0 0 1 0 0 1
Ghosal hematodiaphyseal dysplasia 0 1 0 0 0 1
Hereditary angioedema type 3 0 1 0 0 0 1
Hermansky-Pudlak syndrome 8 0 0 1 0 0 1
Leukocyte adhesion deficiency 3 0 0 1 0 0 1
Ocular albinism 0 0 1 0 0 1
Paroxysmal nocturnal hemoglobinuria 1 0 0 1 0 0 1
Platelet-type bleeding disorder 11 1 0 0 0 0 1
Thrombocytopenia, anemia, and myelofibrosis 0 1 0 0 0 1

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