ClinVar Miner

Variants studied for blood platelet disease

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
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
474 138 1636 624 288 1 4 1 8 3037

Gene and significance breakdown #

Total genes and gene combinations: 85
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
LYST 45 3 280 60 32 0 0 0 0 383
RUNX1 20 12 186 96 32 0 0 0 0 325
GNE 27 51 99 27 12 1 0 0 0 202
MYH9 21 9 67 69 24 0 0 0 3 191
ITGA2 0 0 50 55 14 0 0 0 0 119
AP3B1 13 0 79 15 23 0 0 0 0 111
HPS4 12 1 75 12 10 0 0 0 0 108
NBEAL2 9 0 80 5 13 0 0 0 0 107
HPS1 25 1 46 14 18 0 0 0 0 100
ADAMTS13 27 10 37 22 2 0 0 0 0 97
MPL 22 5 36 35 11 0 1 0 0 96
STIM1 5 1 61 14 14 0 0 0 1 94
HPS5 21 0 53 16 6 0 0 0 0 93
ANKRD26 3 1 49 31 0 0 0 0 0 84
CYCS 3 0 53 27 0 0 0 0 0 83
WAS 42 6 18 3 8 0 0 0 0 76
ITGA2B 18 2 36 4 3 0 0 0 0 63
CD36 9 5 40 5 0 0 0 0 0 56
C10orf55, PLAU 0 0 18 22 8 0 0 0 0 48
BLOC1S6 1 0 34 6 7 0 0 0 0 45
CP, HPS3 3 1 27 8 4 0 0 0 0 43
HPS3 5 2 27 5 3 0 0 0 0 40
ITGB3, THCAT158 4 0 24 9 2 0 0 0 0 39
ITGB3 12 2 12 6 4 0 0 0 0 36
MASTL 0 0 24 12 0 0 0 0 0 36
HPS6 11 3 16 5 1 0 0 0 0 34
BLOC1S3 2 0 19 12 0 0 0 0 0 33
DTNBP1 2 0 23 5 2 0 0 0 0 32
ITGA2, MOCS2 0 0 0 5 21 0 0 0 0 26
GATA1 13 1 7 0 4 0 0 0 0 25
WIPF1 1 0 11 3 6 0 0 0 0 21
THPO 3 0 11 4 2 0 0 0 0 20
ACTN1 6 12 0 0 0 0 0 0 0 18
GP9 1 1 11 2 2 0 0 0 1 16
STAT3 12 0 1 0 0 0 0 0 0 13
ACBD5, MASTL 0 0 5 4 0 0 0 0 0 9
CDC42 6 2 0 0 0 0 0 0 0 7
ETV6 7 1 0 0 0 0 0 0 0 7
GP1BA 5 0 1 0 0 0 0 0 1 7
FLI1 6 1 0 0 0 0 0 0 0 6
GFI1B 5 0 1 0 0 0 0 0 0 6
BLOC1S3, TRAPPC6A 0 0 1 4 0 0 0 0 0 5
CCDC12, NBEAL2 0 0 4 0 0 0 0 0 0 4
GP6 4 0 0 0 0 0 0 0 0 4
MED12L, P2RY12 4 0 0 0 0 0 0 0 0 4
SLFN14 4 0 0 0 0 0 0 0 0 4
​intergenic 3 0 0 0 0 0 0 0 0 3
INSL6, JAK2 2 0 0 0 0 0 0 0 1 3
MASTL, YME1L1 0 0 2 1 0 0 0 0 0 3
MECOM 3 0 0 0 0 0 0 0 0 3
RASGRP2 1 1 1 0 0 0 0 0 0 3
RBM8A 3 0 0 0 0 0 0 0 0 3
SH2B3 2 0 1 0 0 0 0 0 0 3
TBXA2R 0 0 0 0 0 0 3 0 0 3
COL4A4 0 0 2 0 0 0 0 0 0 2
FYB1 2 0 0 0 0 0 0 0 0 2
LIX1L, RBM8A 2 0 0 0 0 0 0 1 0 2
LOC109648314, LOC109648316, RUNX1, RUNX1-IT1 1 0 1 0 0 0 0 0 0 2
TBXAS1 0 2 0 0 0 0 0 0 0 2
XDH 0 0 2 0 0 0 0 0 0 2
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, C11orf44, C11orf45, CDON, CHEK1, DCPS, DDX25, EI24, ETS1, FAM118B, FLI1, FOXRED1, GLB1L2, GLB1L3, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, 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
C10orf55, LOC110121485, PLAU 1 0 0 0 0 0 0 0 0 1
CALR 1 0 0 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
CYFIP1, NIPA1, NIPA2, TUBGCP5 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
HPS1, LOC101927278 0 0 1 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
SQSTM1 1 0 0 0 0 0 0 0 0 1
SRC 1 0 0 0 0 0 0 0 0 1
TUBB1 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 7 9 1079 496 171 0 0 0 0 1762
Invitae 63 10 485 108 106 0 0 0 0 772
OMIM 271 0 2 0 0 0 4 0 0 277
GeneReviews 130 0 0 0 6 0 0 0 0 136
Counsyl 9 45 40 6 3 0 0 0 0 103
ClinGen Myeloid Malignancy Variant Curation Expert Panel 14 8 15 5 10 0 0 0 0 52
Fulgent Genetics,Fulgent Genetics 6 5 19 0 0 0 0 0 0 30
NIHR Bioresource Rare Diseases,University of Cambridge 11 8 9 0 0 0 0 0 0 28
Genetic Services Laboratory, University of Chicago 14 5 0 1 0 0 0 1 0 21
Integrated Genetics/Laboratory Corporation of America 10 7 1 1 0 0 0 0 0 19
Division of Human Genetics,Children's Hospital of Philadelphia 1 5 7 1 0 0 0 0 0 14
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 11 1 0 0 0 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 9 2 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 9 0 0 0 0 0 0 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 4 0 0 0 0 0 0 0 11
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 0 0 0 0 0 0 0 0 11
Hematology laboratory,Robert Debré Hospital 0 11 0 0 0 0 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 9 0 0 0 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 6 0 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 7 7
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 3 2 0 0 0 0 0 0 6
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 2 2 0 0 0 0 6
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 2 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
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 0 0 0 3
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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 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
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
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 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
Fan Lab,Zhengzhou University 0 2 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 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,Klinikum rechts der Isar 0 1 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.