ClinVar Miner

Variants from Laboratory of Pediatric Immunoinfectivology, Tor Vergata University

Location: Italy  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
15 1 1 0 0 17

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RAG1 6 0 0 6
ADA 2 0 0 2
IL7R 1 1 0 2
ADA2 1 0 0 1
ARPC1B 1 0 0 1
IKBKB 0 0 1 1
IL2RG 1 0 0 1
JAK3 1 0 0 1
RAG2 1 0 0 1
XIAP 1 0 0 1

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance total
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 4 0 0 4
Combined immunodeficiency with skin granulomas 2 0 0 2
Immunodeficiency 104 1 1 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2 0 0 2
Combined immunodeficiency due to partial RAG1 deficiency 1 0 0 1
Immunodeficiency 15a 0 0 1 1
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1 0 0 1
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 0 0 1
Vasculitis due to ADA2 deficiency 1 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 1 0 0 1
X-linked severe combined immunodeficiency 1 0 0 1

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