ClinVar Miner

Variants in gene NOD2

Minimum submission review status: Collection method:
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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 risk factor not provided total
14 1 132 119 44 5 101 325

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Blau syndrome 8 0 32 56 9 0 80 162
not provided 1 1 21 67 34 0 21 137
Crohn disease 0 0 26 61 9 0 0 96
Blau syndrome; Inflammatory bowel disease 1 4 0 77 2 0 4 0 87
not specified 0 0 8 13 9 0 0 27
Inflammatory bowel disease 1 1 0 3 0 0 4 0 8
Behcet's syndrome 4 0 0 0 0 0 0 4
Yao syndrome 0 0 0 0 0 4 0 4
Blau syndrome; Inflammatory bowel disease 1; Yao syndrome 0 0 2 0 0 0 0 2
Blau syndrome; Inflammatory bowel disease 1; Psoriatic arthritis, susceptibility to; Yao syndrome 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 4 0 77 68 34 4 0 187
Illumina Clinical Services Laboratory,Illumina 0 0 30 61 9 0 0 100
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 0 80 80
Human Evolutionary Genetics, Institut Pasteur 0 0 0 0 0 0 21 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 12 5 0 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 15 4 0 0 0 19
OMIM 7 0 1 0 0 4 0 11
GeneDx 1 1 5 0 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 5 0 0 5
Department of Immunology,Hospital Universitario Virgen del Rocio 4 0 0 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 2 0 0 0 0 3
Mendelics 0 0 2 0 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1

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