ClinVar Miner

Variants studied for agammaglobulinemia

Included ClinVar conditions (31):
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
179 40 459 50 68 1 4 781

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRBA 13 7 170 10 10 0 0 207
BTK 73 18 7 6 5 0 0 105
TNFRSF13B 15 4 42 2 3 1 1 62
CR2 3 1 57 0 1 0 0 61
PIK3CD 4 0 36 2 10 0 0 52
NFKB2 5 1 29 4 3 0 0 41
IGLL1 3 0 26 0 10 0 0 37
PIK3R1 12 0 13 2 2 0 1 30
BLNK 2 0 15 3 4 0 0 24
CD19 6 1 4 2 2 0 0 15
CD79A 3 0 10 2 0 0 0 15
CD79B, GH-LCR 2 0 11 2 0 0 0 15
TNFRSF13C 1 1 9 4 1 0 0 15
ICOS 1 2 5 3 2 0 0 13
NFKB1 10 3 0 0 0 0 0 13
IKZF1 8 2 0 0 1 0 0 11
LRRC8A 1 0 0 3 6 0 0 10
TNFSF12, TNFSF12-TNFSF13 0 0 9 1 0 0 0 10
TCF3 1 0 4 3 1 0 0 9
IGH, IGHM 2 0 0 1 3 0 2 6
BLNK, ZNF518A 0 0 4 0 0 0 0 4
IGHM 4 0 0 0 0 0 0 4
IRF2BP2 1 0 1 0 2 0 0 4
MS4A1 1 0 2 0 1 0 0 4
CD81 1 0 1 0 1 0 0 3
LOC108281188, LRBA 1 0 2 0 0 0 0 3
RAG2 2 0 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 2
ACO2, CCDC134, CENPM, CSDC2, DESI1, LINC00634, LOC105373044, LOC108348030, LOC110740341, LOC111562373, LOC112695098, MEI1, MIR33A, MIR378I, NAGA, PHF5A, PMM1, POLR3H, RANGAP1, SEPTIN3, SHISA8, SNU13, SREBF2, TEF, TNFRSF13C, TOB2, WBP2NL, XRCC6, ZC3H7B 0 0 1 0 0 0 0 1
CD40LG 0 0 1 0 0 0 0 1
IL21 1 0 0 0 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 0 1
SH3KBP1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 26 7 419 27 28 0 0 507
OMIM 120 0 0 0 0 0 0 120
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 6 12 42 0 0 63
Integrated Genetics/Laboratory Corporation of America 7 15 3 1 1 0 0 27
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 16 0 0 0 0 18
Mendelics 5 4 4 4 0 0 0 17
Illumina Clinical Services Laboratory,Illumina 0 0 4 5 5 0 0 14
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 0 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 5 0 0 0 0 5
Samuels research lab,Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 0 3
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 1 2 0 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 1 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Department of Medicine, University of Cambridge 1 0 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Genetech,Genetech Research Institute 0 0 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica,Servicio Galego de Saude 1 0 0 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Routes Lab,Medical College of Wisconsin 1 0 0 0 0 0 0 1

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