ClinVar Miner

List of variants reported as pathogenic for T-B- severe combined immunodeficiency by Fulgent Genetics, Fulgent Genetics

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	rs104894419	0.00007
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	rs121908156	0.00003
NM_000022.4(ADA):c.43C>G (p.His15Asp)	rs121908725	0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	rs750055861	0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)	rs199474686	0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)	rs757797994	0.00001
NM_000022.4(ADA):c.956_960del (p.Glu319fs)	rs771266745
NM_000022.4(ADA):c.975+1G>A	rs2065325898
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	rs1851074524
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)	rs772226399

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