ClinVar Miner

Variants in gene NOD2

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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 association confers sensitivity risk factor uncertain risk allele not provided total
20 6 581 363 106 3 1 3 1 101 937

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity risk factor uncertain risk allele not provided total
Blau syndrome; Regional enteritis 9 0 420 288 55 3 0 0 0 0 775
not provided 2 3 87 58 40 0 0 0 0 19 184
Blau syndrome 10 2 37 26 60 0 0 0 0 79 177
Autoinflammatory syndrome 0 1 63 43 12 0 0 0 0 0 118
Inflammatory bowel disease 1 1 0 63 35 9 0 0 3 0 0 105
not specified 0 0 9 6 17 0 0 0 0 0 31
Inborn genetic diseases 0 0 26 3 0 0 0 0 0 0 29
Blau syndrome; Inflammatory bowel disease 1 0 0 14 11 0 0 0 0 0 2 27
Blau syndrome; Yao syndrome; Inflammatory bowel disease 1 0 0 13 2 0 0 0 0 0 0 15
Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 0 0 7 1 0 0 0 0 0 0 8
NOD2-related condition 0 0 8 0 0 0 0 0 0 0 8
Yao syndrome 0 0 4 0 0 0 0 3 0 0 5
Behcet disease 4 0 0 0 0 0 0 0 0 0 4
Crohn disease 0 0 0 3 0 0 0 0 0 1 4
Leprosy, susceptibility to, 1 0 0 0 0 0 0 1 0 1 0 2

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity risk factor uncertain risk allele not provided total
Invitae 9 0 434 300 55 3 0 0 0 0 801
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 63 42 12 0 0 0 0 0 118
Illumina Laboratory Services, Illumina 1 0 60 45 60 0 0 0 0 0 107
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 31 34 15 0 0 0 0 0 81
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 0 0 77 77
CeGaT Center for Human Genetics Tuebingen 2 1 16 28 17 0 0 0 0 0 64
GeneDx 2 1 28 1 12 0 0 0 0 0 44
Ambry Genetics 0 0 26 3 0 0 0 0 0 0 29
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 0 0 0 0 17 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 6 7 0 0 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 1 0 14 0 0 0 0 0 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 6 6 0 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 11 0 0 0 0 0 0 0 11
OMIM 7 0 1 0 0 0 0 3 0 0 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 10 0 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 6 3 0 0 0 0 0 0 9
Preventiongenetics, part of Exact Sciences 0 0 8 0 0 0 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 2 3 0 0 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 5 0 0 0 0 0 6
Baylor Genetics 0 0 4 0 0 0 0 0 0 0 4
Revvity Omics, Revvity Omics 0 0 4 0 0 0 0 0 0 0 4
Department of Immunology, Hospital Universitario Virgen del Rocio 4 0 0 0 0 0 0 0 0 0 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 1 1 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 4 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 0 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 2 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 0 0 0 3
Eurofins Ntd Llc (ga) 0 0 1 1 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 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 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 0 0 0 2
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta 0 0 0 0 0 0 1 0 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 1 0 0 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 0 1

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