ClinVar Miner

Variants studied for B cell deficiency

Included ClinVar conditions (49):
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
393 118 2484 833 453 2 8 4152

Gene and significance breakdown #

Total genes and gene combinations: 54
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DOCK8 37 16 543 160 76 0 3 793
LRBA 31 12 462 149 59 0 0 705
SPINK5 37 7 198 59 55 0 1 340
CR2 3 2 191 53 17 0 0 262
STAT3 17 14 126 44 30 0 0 224
PIK3CD 4 1 117 70 31 0 0 222
NFKB2 6 3 88 50 16 0 0 160
TNFRSF13B 21 7 94 24 10 1 1 147
PIK3R1 14 3 69 31 9 0 1 125
UNG 7 0 92 25 5 0 0 124
AICDA 14 5 67 15 20 0 0 118
BTK 75 21 11 5 8 0 0 116
IGLL1 4 0 51 23 19 0 0 91
ICOS 2 2 57 14 19 0 0 89
CD40LG 36 13 24 4 13 0 0 88
BLNK 3 1 43 16 10 0 0 73
TNFRSF13C 1 0 41 23 9 1 0 62
CD79A 3 0 38 15 0 0 0 55
TNFSF12, TNFSF12-TNFSF13 0 0 38 11 5 0 0 54
CD19 6 1 38 5 4 0 0 53
CD40 5 0 26 4 10 0 0 45
CD79B, GH-LCR 2 0 23 17 2 0 0 44
NFKB1 19 5 2 1 3 0 0 28
BLNK, ZNF518A 2 0 12 7 0 0 0 21
TCF3 1 1 5 3 7 0 0 17
IKZF1 8 3 2 0 1 0 0 14
LRRC8A 1 0 1 3 6 0 0 11
IRF2BP2 1 0 4 1 3 0 0 9
IGH, IGHM 2 1 0 1 3 0 2 7
ZNF341 5 0 2 0 0 0 0 7
IL6ST 2 0 2 0 1 0 0 5
CD81 1 0 2 0 1 0 0 4
IGHM 4 0 0 0 0 0 0 4
LRBA, MAB21L2 3 0 1 0 0 0 0 4
MS4A1 1 0 2 0 1 0 0 4
IL6R 2 0 1 0 0 0 0 3
LOC108281188, LRBA 1 0 2 0 0 0 0 3
DSG1 2 0 0 0 0 0 0 2
IL21 1 0 1 0 0 0 0 2
NFKBID 0 0 2 0 0 0 0 2
PGM3 2 0 0 0 0 0 0 2
RAG2 2 0 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 2
ACACB, UNG 0 0 1 0 0 0 0 1
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BCL6B, BORCS6, C17orf49, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MIR195, MIR497HG, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 1
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
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT5, GSTT1, GSTT2, GSTT2B, IGLL1, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 0 0 1
AICDA, CLEC4D, CLEC4E, CLEC6A 1 0 0 0 0 0 0 1
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A 0 0 1 0 0 0 0 1
CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, KIF1B, LZIC, NMNAT1, PEX14, PGD, PIK3CD, RBP7, UBE4B 0 0 1 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 0 0 1
DOP1A, PGM3 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: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 153 52 1963 753 295 0 0 3216
Illumina Clinical Services Laboratory,Illumina 2 0 440 62 170 0 0 674
OMIM 189 0 0 0 0 0 0 189
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 9 21 72 1 0 105
Baylor Genetics 11 1 84 0 0 0 0 96
Integrated Genetics/Laboratory Corporation of America 17 32 7 3 3 0 0 62
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 33 0 0 0 0 36
Mendelics 7 7 7 4 0 0 0 25
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 17 0 1 0 0 0 0 18
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 9 3 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 4 6 0 0 0 0 12
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 5 4 3 0 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 6 0 0 10
Fulgent Genetics,Fulgent Genetics 2 0 6 0 0 0 0 8
GeneReviews 7 0 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 5 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 6 1 0 0 7
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 2 0 0 0 4 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 5 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 1 3 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 0 4
Samuels research lab,Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 0 0 4
Department of Immunology,University Hospital Southampton NHSFT 4 0 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Centre of Chronic Immunodeficiency, Freiburg University 3 0 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 1 0 3
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 1 2 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
Nilou-Genome Lab 1 0 0 0 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 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
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 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
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 1
Immunology Clinic,UCLA 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Routes Lab,Medical College of Wisconsin 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 1

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