ClinVar Miner

Variants studied for hypersensitivity reaction disease

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
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Gene type:
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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 affects likely risk allele uncertain risk allele not provided total
185 59 1156 794 205 1 3 1 12 2314

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele uncertain risk allele not provided total
CASP10 2 0 291 127 59 0 0 0 4 459
PRKCD 12 4 168 215 22 0 0 0 1 414
FAS 65 20 167 82 27 0 0 0 0 347
FOXP3 32 12 120 103 43 0 3 1 0 288
CASP8 18 4 150 105 18 0 0 0 0 287
CTLA4 31 12 104 53 6 0 0 0 0 201
FASLG 3 0 96 70 22 0 0 0 7 183
LOC129936899, PRKCD 0 0 14 13 1 0 0 0 0 28
ACTA2, FAS 1 2 6 8 5 0 0 0 0 22
KRAS 7 2 5 6 0 0 0 0 0 19
LOC129936895, PRKCD 0 0 4 8 1 0 0 0 0 13
CTLA4, LOC129935461 1 0 8 1 0 0 0 0 0 10
CASP8, LOC128772255 0 0 0 2 1 0 0 0 0 3
IL21R 0 0 3 0 0 0 0 0 0 3
IL4R 0 0 3 0 0 0 0 0 0 3
NRAS 2 1 1 0 0 0 0 0 0 3
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 0 0 2
ANKRD45, C1orf105, CENPL, DARS2, DNM3, DNM3OS, FASLG, GAS5, KLHL20, METTL13, MIR199A2, MIR214, MIR3120, MYOC, PIGC, PRDX6, RC3H1, SERPINC1, SLC9C2, SUCO, TNFSF18, TNFSF4, VAMP4, ZBTB37 1 0 1 0 0 0 0 0 0 2
CCDST, FLG 2 0 0 0 0 0 0 0 0 2
CYP4F22 0 0 2 0 0 0 0 0 0 2
IL21R, LOC130058712 0 0 2 0 0 0 0 0 0 2
PRKCD, RFT1 1 0 1 0 0 0 0 0 0 2
​intergenic 0 1 0 0 0 0 0 0 0 1
ACTA2, ANKRD22, CH25H, FAS, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, RNLS, SLC16A12, STAMBPL1 0 0 1 0 0 0 0 0 0 1
ACTA2, ANKRD22, CH25H, FAS, IFIT2, IFIT3, LIPA, LIPM, LIPN, STAMBPL1 1 0 0 0 0 0 0 0 0 1
ACTA2, CH25H, FAS, LIPA 1 0 0 0 0 0 0 0 0 1
AKAP4, ARAF, BMP15, CACNA1F, CCDC120, CCDC22, CCNB3, CDK16, CFP, CLCN5, DGKK, EBP, ELK1, ERAS, FOXP3, FTSJ1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, INE1, JADE3, KCND1, LINC01560, MAGIX, MIR502, MIR532, NDUFB11, OTUD5, PAGE1, PAGE4, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM10, RBM3, RGN, RP2, SHROOM4, SLC35A2, SLC38A5, SLC9A7, SPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SUV39H1, SYN1, SYP, TBC1D25, TFE3, TIMM17B, TIMP1, UBA1, USP11, USP27X, UXT, WAS, WDR13, WDR45, ZNF157, ZNF182, ZNF41, ZNF630, ZNF81 1 0 0 0 0 0 0 0 0 1
CACNA1F, CCDC22, CLCN5, FOXP3, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GPKOW, MAGIX, MIR502, MIR532, PAGE1, PAGE4, PLP2, PPP1R3F, PRICKLE3, SYP, USP27X, WDR45 0 0 1 0 0 0 0 0 0 1
CASP10, CASP8, LOC128772255, LOC129935407, LOC129935408, LOC129935409, LOC129935410, LOC129935411, LOC129935412 1 0 0 0 0 0 0 0 0 1
CASP10, LOC129935405 0 0 1 0 0 0 0 0 0 1
CASP8, LOC128772255, LOC129935411 0 0 1 0 0 0 0 0 0 1
CASP8, LOC129935411 0 0 0 1 0 0 0 0 0 1
CCDC22, FOXP3 0 0 1 0 0 0 0 0 0 1
CD28, CTLA4, ICOS, RAPH1 1 0 0 0 0 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 0 0 0 0 1
GFOD1, MCUR1, NOL7, PHACTR1, RANBP9, RNF182, SIRT5, TBC1D7 0 0 1 0 0 0 0 0 0 1
HAVCR1 0 0 0 0 0 1 0 0 0 1
IL21R, LOC130058713 0 0 1 0 0 0 0 0 0 1
ITK 0 0 1 0 0 0 0 0 0 1
KCNJ11 0 1 0 0 0 0 0 0 0 1
SLC9A6 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects likely risk allele uncertain risk allele not provided total
Labcorp Genetics (formerly Invitae), Labcorp 123 33 964 738 123 0 0 0 0 1981
Illumina Laboratory Services, Illumina 0 0 143 29 105 0 0 0 0 277
OMIM 49 0 1 0 0 1 0 0 0 51
Fulgent Genetics, Fulgent Genetics 1 1 26 20 0 0 0 0 0 48
Baylor Genetics 4 3 17 0 0 0 0 0 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 18 2 0 0 0 0 0 23
Revvity Omics, Revvity 0 1 17 0 0 0 0 0 0 18
Mendelics 6 0 3 6 2 0 0 0 0 17
GeneReviews 0 0 0 0 0 0 0 0 11 11
Genome-Nilou Lab 0 0 0 0 10 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 4 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 6 0 0 0 0 0 0 7
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 2 0 2 3 0 0 0 0 0 7
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 1 1 0 3 1 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 1 3 0 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 0 0 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 0 0 0 3
3billion 2 1 0 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 0 0 0 2
Department of Immunology, University Hospital Southampton NHSFT 0 2 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 0 1
Choi Lab, Seoul National University 1 0 0 0 0 0 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 1 0 0 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 1 0 0 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 0 0 1
Laboratory of Transmission, Control and Immunobiology of Infections, Institut Pasteur de Tunis 1 0 0 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 1 1
Suma Genomics, Suma Genomics 0 1 0 0 0 0 0 0 0 1

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