ClinVar Miner

Variants studied for blood platelet disease

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 affects risk factor other not provided total
613 325 2789 622 823 1 4 1 9 4922

Gene and significance breakdown #

Total genes and gene combinations: 110
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
LYST 46 6 485 100 56 0 0 0 0 645
RUNX1 33 33 348 83 75 0 0 0 0 536
GNE 44 57 155 48 13 1 0 0 1 289
MYH9 22 12 96 16 120 0 0 0 3 263
NBEAL2 11 10 156 16 28 0 0 0 0 221
AP3B1 15 0 150 33 31 0 0 0 0 202
ITGA2 0 0 87 24 69 0 0 0 0 180
STIM1 6 2 124 25 18 0 0 0 1 174
ITGA2B 49 30 81 12 18 0 0 0 0 171
HPS4 12 2 112 19 20 0 0 0 0 162
ADAMTS13 29 10 85 26 15 0 0 0 0 159
ANKRD26 6 11 53 15 72 0 0 0 0 154
MPL 31 14 65 49 18 0 1 0 0 148
HPS1 28 12 66 5 35 0 0 0 0 141
HPS5 22 2 77 12 21 0 0 0 0 130
WAS 59 8 37 9 19 0 0 0 0 130
CD36 9 8 83 2 4 0 0 0 0 102
ITGB3 25 19 38 5 15 0 0 0 0 93
CYCS 3 2 54 27 1 0 0 0 0 85
HPS6 14 8 42 4 8 0 0 0 0 74
HPS3 6 6 47 6 8 0 0 0 0 72
C10orf55, PLAU 0 0 24 3 37 0 0 0 0 64
MASTL 0 0 22 10 29 0 0 0 0 61
WIPF1 1 0 34 14 10 0 0 0 0 59
CP, HPS3 4 2 34 7 11 0 0 0 0 58
ITGB3, THCAT158 4 3 37 4 11 0 0 0 0 58
BLOC1S6 1 3 40 8 7 0 0 0 0 55
THPO 4 0 24 6 5 0 0 0 0 39
BLOC1S3 3 0 20 12 0 0 0 0 0 35
ITGA2, MOCS2 0 0 1 5 28 0 0 0 0 34
DTNBP1 3 0 23 5 2 0 0 0 0 32
GP9 2 2 19 3 6 0 0 0 1 30
ACTN1 7 14 4 0 0 0 0 0 0 25
GATA1 13 4 5 0 1 0 0 0 0 21
ACBD5, MASTL 0 0 5 1 7 0 0 0 0 13
ETV6 7 3 4 0 0 0 0 0 0 13
GP1BA 5 5 2 1 0 0 0 0 1 13
STAT3 12 0 1 0 0 0 0 0 0 13
GP1BB, SEPT5-GP1BB 1 7 3 0 0 0 0 0 0 11
RBM8A 5 1 0 0 2 0 0 0 0 8
TUBB1 2 2 4 0 0 0 0 0 0 8
​intergenic 3 3 1 0 0 0 0 0 0 7
CDC42 6 2 0 0 0 0 0 0 0 7
FLI1 6 4 0 0 0 0 0 0 0 7
GFI1B 5 0 2 0 0 0 0 0 0 7
CCDC12, NBEAL2 0 0 6 0 0 0 0 0 0 6
RASGRP2 1 5 1 0 0 0 0 0 0 6
BLOC1S3, TRAPPC6A 0 0 1 4 0 0 0 0 0 5
LIX1L, RBM8A 3 1 1 0 1 0 0 1 0 5
PLA2G4A 5 0 0 0 0 0 0 0 0 5
GP6 4 0 0 0 0 0 0 0 0 4
INSL6, JAK2 2 0 1 0 0 0 0 0 1 4
MECOM 3 1 1 0 0 0 0 0 0 4
MED12L, P2RY12 4 0 0 0 0 0 0 0 0 4
SLFN14 4 2 0 0 0 0 0 0 0 4
MASTL, YME1L1 0 0 2 1 0 0 0 0 0 3
TBXA2R 0 0 0 0 1 0 3 0 0 3
ABCG5, DYNC2LI1 0 0 2 0 0 0 0 0 0 2
CLIC6, KCNE1, KCNE2, MRPS6, RCAN1, RUNX1, SLC5A3, SMIM11A 0 2 0 0 0 0 0 0 0 2
COL4A4 0 0 2 0 0 0 0 0 0 2
FYB1 2 0 0 0 0 0 0 0 0 2
HPS1, LOC101927278 0 0 1 1 0 0 0 0 0 2
LOC109648314, LOC109648316, RUNX1, RUNX1-IT1 1 0 1 0 0 0 0 0 0 2
RYR1 0 0 2 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 0 0 2
TBXAS1 0 2 0 0 0 0 0 0 0 2
TCIRG1 0 2 0 0 0 0 0 0 0 2
XDH 0 0 2 0 0 0 0 0 0 2
ABCG4, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BARX2, BCL9L, BLID, BSX, BUD13, C11orf45, C1QTNF5, C2CD2L, CADM1, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FXYD2, FXYD6, FXYD6-FXYD2, GRAMD1B, GRIK4, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KCNJ1, KCNJ5, KIRREL3, KMT2A, LINC02873, LOC101929473, MCAM, MFRP, MIR100, MIR125B1, MIRLET7A2, MPZL2, MPZL3, MSANTD2, NECTIN1, NFRKB, NLRX1, NRGN, NXPE2, NXPE4, OAF, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G2P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDZD3, PHLDB1, PKNOX2, POU2F3, PRDM10, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SNX19, SORL1, SPA17, SRPRA, ST14, ST3GAL4, STT3A, TAGLN, TBCEL, TBRG1, TECTA, THY1, TIRAP, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TTC36, UBASH3B, UBE4A, UPK2, USP2, VPS11, VSIG2, VWA5A, ZBTB44, ZNF202, ZPR1 0 1 0 0 0 0 0 0 0 1
ABCG5, ABCG8 0 0 1 0 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, C11orf45, CCDC15, CDON, CHEK1, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, HEPACAM, HEPN1, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SIAE, SLC37A2, SNX19, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBRG1, THYN1, TIRAP, TMEM218, TMEM45B, TP53AIP1, VPS26B, VSIG2, ZBTB44 1 0 0 0 0 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, C11orf45, CDON, CHEK1, DCPS, DDX25, EI24, ETS1, FAM118B, FLI1, FOXRED1, GLB1L2, GLB1L3, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, NCAPD3, NFRKB, NTM, OPCML, PATE1, PATE2, PATE3, PATE4, PRDM10, PUS3, RPUSD4, SNX19, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, THYN1, TIRAP, TMEM45B, TP53AIP1, VPS26B, ZBTB44 1 0 0 0 0 0 0 0 0 1
ACAD8, GLB1L3, IGSF9B, JAM3, LINC02743, NCAPD3, OPCML, SPATA19, THYN1, VPS26B 1 0 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 0 0 0 0 0 0 0 1 1
ANKRD34A, ANKRD35, CD160, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 0 1 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 1 0 0 0 0 0 0 0 0 1
ANO6 1 0 0 0 0 0 0 0 0 1
AP3D1 1 0 0 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 0 1
BLOC1S5 1 0 0 0 0 0 0 0 0 1
C10orf55, LOC110121485, PLAU 1 0 0 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 0 1
CBR1, RUNX1, SETD4 1 0 0 0 0 0 0 0 0 1
CEP290 0 0 1 0 0 0 0 0 0 1
CFH 0 0 0 0 1 0 0 0 0 1
CFHR5 0 0 1 0 0 0 0 0 0 1
CHD8 0 0 1 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 0 1
CIITA 0 0 1 0 0 0 0 0 0 1
CNKSR2 0 0 1 0 0 0 0 0 0 1
CREBBP 0 0 1 0 0 0 0 0 0 1
CUX2, SH2B3 1 0 0 0 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 0 1
DST 0 0 1 0 0 0 0 0 0 1
EPHB2 1 0 0 0 0 0 0 0 0 1
ETS1 1 0 0 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 1
HOXA11 1 0 0 0 0 0 0 0 0 1
KCNQ1 0 1 0 0 0 0 0 0 0 1
LOC109648316, RUNX1 0 0 1 0 0 0 0 0 0 1
LOC112081391, STIM1 1 0 0 0 0 0 0 0 0 1
LOC112695089, MYH9 0 0 0 1 0 0 0 0 0 1
P2RX1 0 0 1 0 0 0 0 0 0 1
PRKACG 1 0 0 0 0 0 0 0 0 1
SLC1A1, SPATA6L 0 0 1 0 0 0 0 0 0 1
SLC6A8 0 0 1 0 0 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 0 0 1
SQSTM1 1 0 0 0 0 0 0 0 0 1
SRC 1 1 0 0 0 0 0 0 0 1
WWOX 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 7 9 1696 345 673 0 0 0 0 2721
Invitae 130 20 971 256 161 0 0 0 0 1538
OMIM 277 0 2 0 0 0 4 0 0 283
NIHR Bioresource Rare Diseases, University of Cambridge 46 120 51 0 0 0 0 0 0 213
GeneReviews 137 0 0 0 6 0 0 0 0 143
ClinGen Myeloid Malignancy Variant Curation Expert Panel 20 16 25 12 43 0 0 0 0 116
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 34 32 32 2 15 0 0 0 0 115
Counsyl 6 46 41 6 3 0 0 0 0 102
Fulgent Genetics,Fulgent Genetics 6 5 19 0 0 0 0 0 0 30
Integrated Genetics/Laboratory Corporation of America 12 9 1 1 0 0 0 0 0 23
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 5 15 0 1 0 0 0 0 22
Genetic Services Laboratory, University of Chicago 14 5 0 1 0 0 0 1 0 21
Mendelics 2 0 3 4 9 0 0 0 0 18
Division of Human Genetics,Children's Hospital of Philadelphia 1 5 7 1 0 0 0 0 0 14
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 2 9 0 0 0 0 0 0 13
Laboratoire de Génétique Moléculaire, CHU Bordeaux 11 2 0 0 0 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 10 0 0 0 0 0 0 13
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 11 1 0 0 0 0 13
Baylor Genetics 8 4 0 0 0 0 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 9 2 0 0 0 0 12
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 7 4 0 0 0 0 0 0 0 11
Hematology laboratory,Robert Debré Hospital 0 11 0 0 0 0 0 0 0 11
Johns Hopkins Genomics,Johns Hopkins University 0 0 4 3 3 0 0 0 0 10
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 9 0 0 0 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 8 8
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 3 2 0 0 0 0 0 0 8
Reproductive Health Research and Development,BGI Genomics 4 3 0 0 1 0 0 0 0 8
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 3 2 0 0 0 0 0 0 6
Myriad Women's Health, Inc. 6 0 0 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 0 0 0 0 0 0 0 0 5
Blood Cell Research,Sanquin 5 0 0 0 0 0 0 0 0 5
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 4 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 4 0 0 0 0 0 0 0 5
Broad Institute Rare Disease Group,Broad Institute 1 0 3 0 0 0 0 0 0 4
San Raffaele Telethon Institute for Gene Therapy,San Raffaele Hospital 4 0 0 0 0 0 0 0 0 4
Sema4, Sema4 2 0 1 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 0 0 0 3
Akiko Shimamura Lab,Fred Hutchinson Cancer Research Center 2 1 0 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 0 0 3
GenePathDx,Causeway Health Care Private Ltd 2 1 0 0 0 0 0 0 0 3
Department of Hematology,303rd Hospital of the People's Liberation Army 3 0 0 0 0 0 0 0 0 3
Center of Medical Genetics,Central South University 2 1 0 0 0 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 0 0 3
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 1 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 0 0 2
Embryology Laboratory,Victor Chang Cardiac Research Institute 2 0 0 0 0 0 0 0 0 2
Fan Lab,Zhengzhou University 0 2 0 0 0 0 0 0 0 2
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 2 0 0 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 0 0 0 0 2
Clinical Genetics Branch,National Institutes of Health 0 2 0 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 0 0 0 1
dbVar 1 0 0 0 0 0 0 0 0 1
Northern Blood Research Centre, University of Sydney 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, RWTH University Hospital Aachen 0 0 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 1 0 0 0 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 0 1
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 0 0 0 1
UCSD Department of Pediatrics,University of California, San Diego 1 0 0 0 0 0 0 0 0 1
Platelet Disorders/Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine 1 0 0 0 0 0 0 0 0 1
Godley laboratory, The University of Chicago 1 0 0 0 0 0 0 0 0 1
MAGIC Laboratory,Stellenbosch University 0 1 0 0 0 0 0 0 0 1

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