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
155 27 234 85 131 1 4 620

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 risk factor not provided total
LRBA 10 1 80 19 40 0 0 147
BTK 70 18 7 5 5 0 0 101
CR2 2 0 32 9 10 0 0 53
PIK3CD 4 0 15 8 18 0 0 45
TNFRSF13B 11 2 24 4 7 1 1 44
NFKB2 5 1 11 11 13 0 0 39
IGLL1 3 0 17 3 12 0 0 34
PIK3R1 10 0 10 4 7 0 1 32
BLNK 2 0 6 3 6 0 0 17
TNFRSF13C 1 0 4 7 4 0 0 16
CD79A 3 0 7 3 0 0 0 13
TNFSF12, TNFSF12-TNFSF13 0 0 4 3 4 0 0 11
CD79B, GH-LCR 2 0 5 2 1 0 0 10
ICOS 1 1 2 2 4 0 0 10
IKZF1 7 2 0 0 0 0 0 9
CD19 6 0 1 0 0 0 0 7
NFKB1 4 2 0 0 0 0 0 6
IGHM 5 0 0 0 0 0 0 5
BLNK, ZNF518A 0 0 2 2 0 0 0 4
LOC108281188, LRBA 1 0 2 0 0 0 0 3
TCF3 1 0 2 0 0 0 0 3
CD81 1 0 1 0 0 0 0 2
IGH, IGHM 1 0 0 0 0 0 2 2
MS4A1 1 0 1 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
IL21 1 0 0 0 0 0 0 1
IRF2BP2 1 0 0 0 0 0 0 1
LRRC8A 1 0 0 0 0 0 0 1
SH3KBP1 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 17 4 207 78 123 0 0 429
OMIM 120 0 0 0 0 0 0 120
Integrated Genetics/Laboratory Corporation of America 7 16 3 1 1 0 0 28
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 18
Illumina Clinical Services Laboratory,Illumina 0 0 4 5 5 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 12 0 0 0 0 14
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
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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 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,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
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 1 0 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
Routes Lab,Medical College of Wisconsin 1 0 0 0 0 0 0 1

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