ClinVar for PubMed (Select 17572155) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2943710	NM_000448.3(RAG1):c.612G>A (p.Trp204Ter)	RAG1 (W204*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 2506198	NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)	RAG1 (R737C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1704499	NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)	RAG1 (R776Q)	Single nucleotide variant (missense variant)	RAG1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 877627	NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser)	RAG1 (R829S)	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 863577	NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln)	RAG1 (R394Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 660211	NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp)	RAG1 (R394W)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 631657	NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter)	RAG1 (K830*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 256188	NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys)	RAG1 (R449K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 68693	NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)	RAG1 (R975Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GPathogenic/Likely pathogenic
Select item 68681	NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)	RAG1 (A444V)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 68680	NM_000448.3(RAG1):c.1303A>G (p.Met435Val)	RAG1 (M435V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +5 more	GPathogenic/Likely pathogenic
Select item 36717	NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	RAG2 (W416L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 13161	NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)	RAG1 (R776W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GPathogenic
Select item 13160	NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)	RAG1 (C328Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GPathogenic
Select item 13157	NM_000448.2(RAG1):c.[1519C>T;2210G>A]	RAG1 (R737H +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 13149	NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	RAG1 (R737H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic