ClinVar Miner

List of variants reported as uncertain significance for T-B- severe combined immunodeficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (30):

Athabaskan severe combined immunodeficiency
Cernunnos-XLF deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity
Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Combined immunodeficiency with skin granulomas; Recombinase activating gene 2 deficiency; Inborn error of immunity
Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
DNA ligase IV deficiency
DNA ligase IV deficiency; Multiple myeloma
Histiocytic medullary reticulosis
Histiocytic medullary reticulosis; Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Inborn error of immunity
Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Inborn error of immunity
Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Neutrophil immunodeficiency syndrome
Neutrophil immunodeficiency syndrome; Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia; Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Partial adenosine deaminase deficiency
Reticular dysgenesis
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive; Recombinase activating gene 2 deficiency; Inborn error of immunity
Short-limb skeletal dysplasia with severe combined immunodeficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000536.4(RAG2):c.218G>A (p.Arg73His)	rs762407838	0.00002
NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr)	rs779732085	0.00001
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)	rs1424732031
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu)	rs777493612
NM_002872.5(RAC2):c.108-8C>G	rs1601672720

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