"Genome-Nilou Lab"[submitter] AND "RAG2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440231	NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	RAG2 (M502V)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +6 more	GConflicting classifications of pathogenicity
Select item 1209660	NM_000536.4(RAG2):c.682A>T (p.Ile228Phe)	RAG2 (I228F)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GUncertain significance
Select item 304556	NM_000536.4(RAG2):c.368G>A (p.Arg123His)	RAG2 (R123H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 704774	NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)	RAG2 (R123C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GConflicting classifications of pathogenicity
Select item 1210463	NM_000536.4(RAG2):c.302del (p.Asn101fs)	RAG2 (N101fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GLikely pathogenic
Select item 138885	NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	RAG2 (V8I)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely benign FDA Recognized database

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