ClinVar Miner

Variants from Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"

Location: Bulgaria  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
19 12 0 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic total
TNFRSF13B 3 3 5
CARD11 0 2 2
CYBB 0 2 2
LOC106029312, NCF1 1 1 2
MVK 1 1 2
STAT3 2 0 2
BTK 1 0 1
FASLG 1 0 1
IL12RB1 1 0 1
IL2RG, LOC126863274 0 1 1
ITGB2 1 0 1
LIPA 1 0 1
LOC126862264, MEFV 1 0 1
MASP2 0 1 1
MPO 0 1 1
NBN 1 0 1
PTPRC 1 0 1
RAG1 1 0 1
RFXANK 1 0 1
STING1 1 0 1
TCIRG1 1 0 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic total
Granulomatous disease, chronic, X-linked 1 3 4
Immunodeficiency, common variable, 1 2 2 4
Immunodeficiency, common variable, 2 2 1 3
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2 0 2
Hyperimmunoglobulin D with periodic fever 1 1 2
Autosomal recessive osteopetrosis 1 1 0 1
Familial Mediterranean fever 1 0 1
Immunodeficiency 105 1 0 1
Immunodeficiency 11b with atopic dermatitis 0 1 1
Immunodeficiency 98 with autoinflammation, X-linked 1 0 1
Immunodeficiency due to MASP-2 deficiency 0 1 1
Leukocyte adhesion deficiency 1 1 0 1
Lysosomal acid lipase deficiency 1 0 1
MHC class II deficiency 1 0 1
Microcephaly, normal intelligence and immunodeficiency 1 0 1
Mycobacterium tuberculosis, susceptibility to 1 0 1
Myeloperoxidase deficiency 0 1 1
STING-associated vasculopathy with onset in infancy 1 0 1
Severe combined immunodeficiency due to CARD11 deficiency 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 1
X-linked agammaglobulinemia 1 0 1
X-linked severe combined immunodeficiency 0 1 1

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