ClinVar Miner

Variants in gene GATA2

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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 risk factor not provided total
167 84 745 537 47 2 9 1489

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 46 6 633 507 24 0 3 1215
Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 118 43 13 0 0 0 0 174
not provided 20 28 71 28 18 0 1 157
Deafness-lymphedema-leukemia syndrome 8 4 51 5 24 0 0 92
not specified 0 0 36 17 15 0 5 67
Acute myeloid leukemia 0 3 44 0 0 0 0 47
Hereditary cancer-predisposing syndrome 0 0 18 17 2 0 0 37
GATA2-related condition 2 0 11 15 3 0 0 31
Monocytopenia with susceptibility to infections 12 3 7 1 3 0 0 25
Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome 1 0 9 1 0 0 0 11
Myelodysplastic syndrome 1 3 1 0 0 2 0 7
Leukemia, acute myeloid, susceptibility to 2 3 0 0 0 1 0 6
Inborn genetic diseases 0 0 4 1 0 0 0 5
GATA2 deficiency with susceptibility to MDS/AML 0 0 2 0 0 0 0 2
Anemia; Splenomegaly 0 0 1 0 0 0 0 1
Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia 0 0 1 0 0 0 0 1
Predisposition to myelodysplastic syndrome 0 0 1 0 0 0 0 1
multilineage dysplasia 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 47 5 633 507 24 0 0 1216
Molecular Pathology Research Laboratory, SA Pathology 118 43 13 0 0 0 0 174
GeneDx 6 3 50 14 13 0 0 86
PreventionGenetics, part of Exact Sciences 13 14 24 23 10 0 0 84
Illumina Laboratory Services, Illumina 0 0 48 4 23 0 0 75
Genetic Services Laboratory, University of Chicago 4 8 35 14 6 0 0 67
Baylor Genetics 1 0 44 0 0 0 0 45
Sema4, Sema4 0 0 18 17 2 0 0 37
CeGaT Center for Human Genetics Tuebingen 1 0 4 8 4 0 0 17
OMIM 14 0 0 0 0 2 0 15
Mayo Clinic Laboratories, Mayo Clinic 4 4 3 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 6 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 8 1 0 0 0 9
Clinical Genetics, Academic Medical Center 0 0 0 0 6 0 0 6
Mendelics 1 3 1 1 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 5 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 5 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 2 3 1 0 0 0 6
Ambry Genetics 0 0 4 1 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 5 0 0 5
ITMI 0 0 0 0 0 0 5 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 5 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 4 0 0 5
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 5 0 0 5
Revvity Omics, Revvity 2 0 2 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 0 3
Eurofins Ntd Llc (ga) 0 0 0 0 3 0 0 3
Blueprint Genetics 0 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 1 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 2 0 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 1
Godley laboratory, The University of Chicago 0 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 1
Pediatric Hematology-Oncology Program, Instituto Nacional de Cancer 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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