ClinVar Miner

Variants studied for type IV hypersensitivity disease

Included ClinVar conditions (18):
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 not provided total
150 45 1021 691 162 12 2005

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CASP10 2 0 291 127 59 4 459
PRKCD 12 4 168 215 22 1 414
FAS 65 20 167 82 27 0 347
CASP8 18 4 150 105 18 0 287
CTLA4 31 12 104 53 6 0 201
FASLG 3 0 96 70 22 7 183
LOC129936899, PRKCD 0 0 14 13 1 0 28
ACTA2, FAS 1 2 6 8 5 0 22
KRAS 7 2 5 6 0 0 19
LOC129936895, PRKCD 0 0 4 8 1 0 13
CTLA4, LOC129935461 1 0 8 1 0 0 10
CASP8, LOC128772255 0 0 0 2 1 0 3
NRAS 2 1 1 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 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 2
PRKCD, RFT1 1 0 1 0 0 0 2
ACTA2, ANKRD22, CH25H, FAS, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, RNLS, SLC16A12, STAMBPL1 0 0 1 0 0 0 1
ACTA2, ANKRD22, CH25H, FAS, IFIT2, IFIT3, LIPA, LIPM, LIPN, STAMBPL1 1 0 0 0 0 0 1
ACTA2, CH25H, FAS, LIPA 1 0 0 0 0 0 1
CASP10, CASP8, LOC128772255, LOC129935407, LOC129935408, LOC129935409, LOC129935410, LOC129935411, LOC129935412 1 0 0 0 0 0 1
CASP10, LOC129935405 0 0 1 0 0 0 1
CASP8, LOC128772255, LOC129935411 0 0 1 0 0 0 1
CASP8, LOC129935411 0 0 0 1 0 0 1
CD28, CTLA4, ICOS, RAPH1 1 0 0 0 0 0 1
CTLA4, ICOS 1 0 0 0 0 0 1
ITK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 106 28 855 646 80 0 1715
Illumina Laboratory Services, Illumina 0 0 143 29 105 0 277
OMIM 36 0 1 0 0 0 37
Fulgent Genetics, Fulgent Genetics 1 1 9 7 0 0 18
Baylor Genetics 3 1 13 0 0 0 17
Revvity Omics, Revvity 0 0 16 0 0 0 16
Mendelics 5 0 3 6 2 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 10 1 0 0 14
GeneReviews 0 0 0 0 0 11 11
Genome-Nilou Lab 0 0 0 0 10 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 3 2 0 7
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 2 0 2 3 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 5 0 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 2 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
3billion 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Department of Immunology, University Hospital Southampton NHSFT 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Choi Lab, Seoul National University 1 0 0 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics, Suma Genomics 0 1 0 0 0 0 1

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