"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RAG1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304491	NM_000448.3(RAG1):c.1A>G (p.Met1Val)	RAG1 (M1V)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 1163340	NM_000448.3(RAG1):c.314C>T (p.Ala105Val)	RAG1 (A105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624599	NM_000448.3(RAG1):c.519del (p.Glu174fs)	RAG1 (E174fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 1057692	NM_000448.3(RAG1):c.850C>T (p.Pro284Ser)	RAG1 (P284S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GUncertain significance
Select item 36710	NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	RAG1 (W522C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic
Select item 871801	NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)	RAG1 (R716W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GPathogenic/Likely pathogenic
Select item 1034220	NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer)	RAG1	Indel (nonsense)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 2683145	NM_000448.3(RAG1):c.2815T>C (p.Phe939Leu)	RAG1 (F939L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance