ClinVar Miner

Variants from Department of Immunology,University Hospital Southampton NHSFT

Location: United Kingdom — Primary collection method: clinical testing
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 total
4 5 0 0 0 9

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic total
CTLA4 0 2 2
STAT3 2 0 2
CD40LG 1 0 1
GATA2 0 1 1
IKBKG 0 1 1
NFKB1 1 0 1
TAZ 0 1 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic total
Autoimmune lymphoproliferatiVe syndrome, type V 0 2 2
Hyperimmunoglobulin E syndrome 2 0 2
3-Methylglutaconic aciduria type 2 0 1 1
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 1 1
Hypohidrotic ectodermal dysplasia with immune deficiency 0 1 1
Immunodeficiency with hyper IgM type 1 1 0 1
Immunodeficiency, common variable, 12 1 0 1

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