ClinVar Miner

Variants in gene NOD2

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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 association risk factor not provided total
16 3 304 150 89 3 4 101 489

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Blau syndrome; Inflammatory bowel disease 1 4 1 205 84 33 3 1 0 331
Blau syndrome 10 0 40 27 72 0 0 80 194
Inflammatory bowel disease 1 1 0 78 38 12 0 4 0 128
not provided 1 2 23 36 1 0 0 21 82
none provided 0 0 16 13 10 0 0 0 39
not specified 0 0 9 5 6 0 0 0 19
Crohn disease 0 0 1 4 0 0 0 0 5
Yao syndrome 0 0 3 0 0 0 4 0 5
Behcet disease 4 0 0 0 0 0 0 0 4
Blau syndrome; Inflammatory bowel disease 1; Psoriatic arthritis, susceptibility to; Yao syndrome 0 0 3 1 0 0 0 0 4
Blau syndrome; Inflammatory bowel disease 1; Yao syndrome 0 0 2 0 0 0 0 0 2
Autoinflammatory syndrome 0 0 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 4 1 205 101 34 3 1 0 349
Illumina Clinical Services Laboratory,Illumina 1 0 78 50 72 0 0 0 133
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 0 80 80
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 19 17 11 0 0 0 47
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 16 7 0 0 0 0 24
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 0 0 21 21
OMIM 7 0 1 0 0 0 4 0 11
GeneDx 1 1 5 0 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 5 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 0 0 6
Baylor Genetics 0 0 4 0 0 0 0 0 4
Department of Immunology,Hospital Universitario Virgen del Rocio 4 0 0 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 2 0 0 0 0 0 3
Mendelics 0 0 2 0 0 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 2 0 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 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 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 0 1

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