ClinVar Miner

Variants studied for hemophagocytic syndrome

Included ClinVar conditions (12):
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 not provided total
514 373 3407 3569 356 62 7876

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LYST 122 121 1449 1468 94 44 3152
UNC13D 106 52 497 683 65 5 1332
STXBP2 47 58 367 535 48 4 1009
AP3B1 36 30 367 248 44 1 694
PRF1 96 55 254 234 33 4 622
STX11 18 15 204 135 26 2 381
RAB27A 46 18 122 71 26 0 272
BLOC1S6 18 10 60 75 6 1 164
LOC112533672, UNC13D 13 7 40 84 7 0 145
LOC126806063, LYST 5 4 23 33 1 1 62
LOC129932856, LYST 0 0 6 1 1 0 8
FHL1 0 1 0 2 3 0 6
LOC130061690, UNC13D 0 0 4 0 1 0 5
LOC129997366, STX11 0 0 3 0 1 0 4
RC3H1 1 0 2 0 0 0 3
AP3D1 0 0 2 0 0 0 2
PCP2, PET100, STXBP2 1 0 1 0 0 0 2
SMCHD1 0 1 1 0 0 0 2
ACTN2, ARID4B, B3GALNT2, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, HEATR1, LGALS8, LYST, NID1, RBM34, TBCE, TOMM20 1 0 0 0 0 0 1
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 1
B3GALNT2, GNG4, LYST 0 0 1 0 0 0 1
B3GALNT2, GNG4, LYST, TBCE 1 0 0 0 0 0 1
CAMSAP3, CCL25, CD209, CD320, CERS4, CLEC4G, CLEC4M, CTXN1, ELAVL1, EVI5L, FBN3, FCER2, LRRC8E, MAP2K7, MCEMP1, MCOLN1, PCP2, PET100, PNPLA6, RETN, SNAPC2, STXBP2, TGFBR3L, TIMM44, TRAPPC5, XAB2 0 0 1 0 0 0 1
CCPG1, DNAAF4, PIERCE2, PIGB, RAB27A 0 0 1 0 0 0 1
EIF4EBP2, NODAL, PALD1, PRF1 0 0 1 0 0 0 1
FUCA2, HYMAI, LTV1, PEX3, PHACTR2, PLAGL1, SF3B5, STX11, ZC2HC1B 1 0 0 0 0 0 1
HPS3 0 1 0 0 0 0 1
LOC130063381, STXBP2 0 0 1 0 0 0 1
PIGB, RAB27A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 427 112 2847 3482 280 0 7148
Illumina Laboratory Services, Illumina 6 3 602 68 127 0 805
Fulgent Genetics, Fulgent Genetics 34 90 87 17 1 0 229
Baylor Genetics 28 124 27 0 0 0 179
Revvity Omics, Revvity 14 4 153 0 0 0 171
OMIM 60 0 1 0 0 0 61
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 36 20 0 0 0 0 56
GeneReviews 0 0 0 0 0 55 55
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 39 5 0 0 44
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 13 6 8 0 0 0 27
Mendelics 11 3 4 3 3 0 24
Neuberg Centre For Genomic Medicine, NCGM 6 9 9 0 0 0 24
Genome-Nilou Lab 0 0 0 0 18 0 18
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 6 10 0 0 0 16
3billion 8 0 5 2 0 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 7 3 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 1 0 10
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 2 3 0 8
New York Genome Center 1 0 7 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 2 3 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 7 0 7
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 2 1 1 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 1 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 2 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 2 3 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 4 0 1 0 0 0 5
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 3 1 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 1 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 3 0 0 0 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Clinical laboratory, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 2 0 0 0 0 2
Fan Lab, Zhengzhou University 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Aleixo Muise Laboratory, Hospital For Sick Children 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Growth and Development Research Center, Tehran University of Medical Sciences 0 1 0 0 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 0 0 0 1
Department of Medical Genetics, Bayan National Lab for Medical Diagnostics 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 0 1
Laboratoire de Génome Humain et Maladies Multifactorielles, Monastir Universite 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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