RAG2

Clinically classified variants

14 reference-table entries with clinical significance.

• rs150762709Benignsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• rs34629171Benignsingle nucleotide variantCombined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis
• rs121917894Conflicting interpretationssingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency, B cell-negative|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas
• rs121918575Conflicting interpretationssingle nucleotide variantCombined immunodeficiency with skin granulomas|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Common variable agammaglobulinemia|Severe combined immunodeficiency disease
• rs148508754Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency disease|Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• rs193922572Conflicting interpretationssingle nucleotide variantHistiocytic medullary reticulosis|Histiocytic medullary reticulosis|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• rs193922573Conflicting interpretationssingle nucleotide variantAtypical severe combined immunodeficiency due to complete RAG1/2 deficiency|Recombinase activating gene 2 deficiency|Inborn errors of immunity
• rs193922575Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency disease|Recombinase activating gene 2 deficiency|Inborn errors of immunity|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• rs35691292Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency, B cell-negative|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis|Recombinase activating gene 2 deficiency|Inborn errors of immunity|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|Combined immunodeficiency with skin granulomas|Histiocytic medullary reticulosis
• rs546979744Likely benignsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis
• rs193922574Pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency disease|Histiocytic medullary reticulosis
• rs36001797Pathogenicsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|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
• rs121918573Uncertain significancesingle nucleotide variantSevere combined immunodeficiency, B cell-negative|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Recombinase activating gene 2 deficiency|Inborn errors of immunity
• rs140682926Uncertain significancesingle nucleotide variantCombined immunodeficiency with skin granulomas|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|Histiocytic medullary reticulosis

Other listed variants

• rs867801
• rs867803
• rs2422296
• rs78161774
• rs199798089
• rs764485070

Public references

• NCBI Gene
• Ensembl
• ClinVar