ClinVar Miner

Variants in gene TYK2

Minimum submission review status: Collection method:
Minimum conflict level:
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 risk factor total
6 4 220 77 54 1 335

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Tyrosine kinase 2 deficiency 6 1 204 32 37 0 267
not provided 1 3 12 31 16 0 63
not specified 0 0 3 22 18 0 43
Virus-induced diabetes 0 0 6 0 0 1 7
Immunodeficiency; Recurrent skin infections 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 0 1 133 45 21 0 200
Illumina Clinical Services Laboratory,Illumina 0 0 86 9 30 0 125
GeneDx 1 1 9 28 30 0 69
PreventionGenetics,PreventionGenetics 0 0 0 1 9 0 10
Division of Host Defense,Kyushu University 0 0 6 0 0 1 7
OMIM 6 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 2 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 3 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 2 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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