ClinVar Miner

Variants in gene BTK

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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 likely risk allele not provided total
233 94 161 185 71 1 1 698

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
X-linked agammaglobulinemia with growth hormone deficiency 143 34 138 169 49 0 0 526
X-linked agammaglobulinemia 84 30 10 5 10 0 0 135
not provided 37 23 15 10 27 0 0 112
not specified 2 2 6 5 7 0 0 22
Autosomal recessive agammaglobulinemia 1 17 0 1 0 0 0 0 18
BTK-related condition 0 1 3 5 1 0 0 10
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 2 1 3 2 0 0 0 8
Inherited Immunodeficiency Diseases 1 4 0 0 0 0 0 5
Breast neoplasm 0 2 0 0 0 0 0 2
Common variable immunodeficiency 0 0 1 0 0 1 0 2
Inborn genetic diseases 0 0 2 0 0 0 0 2
Agammaglobulinemia 0 1 0 0 0 0 0 1
B-cell chronic lymphocytic leukemia 0 0 0 0 0 0 1 1
Hypogammaglobulinemia, X-linked 1 0 0 0 0 0 0 1
Isolated congenital growth hormone deficiency 0 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Invitae 142 33 129 168 43 0 0 515
GeneDx 22 16 7 6 26 0 0 77
OMIM 56 0 0 0 0 0 0 56
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 14 19 7 1 2 0 0 43
Illumina Laboratory Services, Illumina 0 2 9 4 8 0 0 21
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 18
CeGaT Center for Human Genetics Tuebingen 9 1 0 1 1 0 0 12
PreventionGenetics, part of Exact Sciences 0 1 3 5 2 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 2 2 2 0 0 10
Mendelics 4 1 0 3 0 0 0 8
Clinical Genetics and Genomics, Karolinska University Hospital 7 0 0 0 0 0 0 7
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 6 0 0 0 0 0 0 6
3billion 4 2 0 0 0 0 0 6
Eurofins Ntd Llc (ga) 0 0 2 2 1 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 4 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 1 2 0 0 0 4
Blueprint Genetics 0 3 1 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 1 0 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 0 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 3 0 0 3
Department of Laboratory Medicine, Yonsei University College of Medicine 2 1 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 1 0 0 2
Ambry Genetics 0 0 2 0 0 0 0 2
Revvity Omics, Revvity 1 1 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 0 2
Immunodeficiencies, Instituto Nacional de Pediatria 2 0 0 0 0 0 0 2
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 0 0 1 0 0 1 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Routes Lab, Medical College of Wisconsin 1 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 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
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Wasik Lab, Fox Chase Cancer Center 1 0 0 0 0 0 0 1

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