ClinVar Miner

Variants from Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer

Location: Israel — Primary collection method: research
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
1 17 14 1 2 35

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RAG2 1 17 14 1 2 35

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 6 5 0 1 12
Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 3 2 0 1 6
Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 2 3 0 0 5
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 2 1 1 0 4
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Primary immunodeficiency 1 0 2 0 0 3
Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 2 1 0 0 3
Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 1 0 0 0 1
Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Primary immunodeficiency 0 1 0 0 0 1

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