"Blueprint Genetics"[submitter] AND "RAG1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285045	NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	RAG1	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 636468	NM_000448.3(RAG1):c.416G>T (p.Gly139Val)	RAG1 (G139V)	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 13144	NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)	RAG1 (R396C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +4 more	GPathogenic
Select item 636824	NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)	RAG1 (R404W)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +5 more	GPathogenic/Likely pathogenic
Select item 68680	NM_000448.3(RAG1):c.1303A>G (p.Met435Val)	RAG1 (M435V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic/Likely pathogenic
Select item 636565	NM_000448.3(RAG1):c.1618G>A (p.Gly540Arg)	RAG1 (G540R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636558	NM_000448.3(RAG1):c.1993G>A (p.Glu665Lys)	RAG1 (E665K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636621	NM_000448.3(RAG1):c.2161C>G (p.Leu721Val)	RAG1 (L721V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 636822	NM_000448.3(RAG1):c.2240A>C (p.His747Pro)	RAG1 (H747P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic