ClinVar Miner

Variants studied for immunodeficiency, common variable, 1

Included ClinVar conditions (4):
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
28 11 201 138 33 1 2 405

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
TNFSF12, TNFSF12-TNFSF13 0 0 102 74 11 0 0 187
ICOS 9 3 78 54 21 0 0 158
LOC130060153, TNFSF12, TNFSF12-TNFSF13 0 0 15 10 1 0 0 26
NFKB1 6 2 0 0 0 0 0 8
TNFRSF13B 3 5 0 0 0 0 1 7
ABI2, ALS2, BMPR2, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, ICA1L, ICOS, MPP4, NBEAL1, NDUFB3, NOP58, RAPH1, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 1 0 0 0 0 2
BTK 0 0 1 0 0 1 0 2
CD40LG 1 0 1 0 0 0 0 2
CTLA4, ICOS 2 0 0 0 0 0 0 2
NFKB2 1 0 0 0 0 0 1 2
RAG2 2 0 0 0 0 0 0 2
TTC7A 2 0 0 0 0 0 0 2
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BACC1, BCL6B, BORCS6, 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
ACADVL, ACAP1, ATP1B2, CD68, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, KCTD11, MPDU1, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SAT2, SENP3, SHBG, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, WRAP53, YBX2, ZBTB4 0 0 1 0 0 0 0 1
CTLA4 0 1 0 0 0 0 0 1
IKBKG 0 0 1 0 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 0 0 1
NFKB2, PSD 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 2 162 136 20 0 0 331
Illumina Laboratory Services, Illumina 0 0 35 2 15 0 0 52
NIHR Bioresource Rare Diseases, University of Cambridge 10 1 1 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 2 3 0 0 6
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 1 1 2 0 0 1 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 0 0 4
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 2 2 0 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 1 0 0 0 2
OMIM 1 0 0 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 0 1

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