"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618341	NM_000536.4(RAG2):c.1526G>T (p.Gly509Val)	RAG2 (G509V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 440231	NM_000536.4(RAG2):c.1504A>G (p.Met502Val)	RAG2 (M502V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +7 more	GConflicting classifications of pathogenicity
Select item 138887	NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)	RAG2 (F386L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GBenign FDA Recognized database
Select item 304552	NM_000536.4(RAG2):c.1095T>C (p.Ser365=)	RAG2	Single nucleotide variant (synonymous variant)	Recombinase activating gene 2 deficiency	GLikely benign FDA Recognized database
Select item 256378	NM_000536.4(RAG2):c.878A>G (p.Glu293Gly)	RAG2 (E293G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GBenign FDA Recognized database
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

ClinVar