C2673536[trait identifier] AND "Pediatric Immunology Service, The Chai - ClinVar

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Items: 20

	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)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +7 more	GConflicting classifications of pathogenicity
Select item 13129	NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)	RAG2 (C478Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 496633	NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)	RAG2 (N474S)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 496632	NM_000536.4(RAG2):c.1375A>C (p.Met459Leu)	RAG2 (M459L)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +5 more	GLikely pathogenic
Select item 496630	NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)	RAG2 (W453R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 13138	NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	RAG2 (G451A)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 36718	NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)	RAG2 (E437K)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
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 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 13130	NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	RAG2 (R229Q)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 496624	NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	RAG2 (R229W)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 13135	NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	RAG2 (T215I)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GBenign FDA Recognized database
Select item 36720	NM_000536.4(RAG2):c.328A>C (p.Met110Leu)	RAG2 (M110L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GConflicting classifications of pathogenicity
Select item 13137	NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	RAG2 (T77N)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 496620	NM_000536.4(RAG2):c.218G>A (p.Arg73His)	RAG2 (R73H)	Single nucleotide variant (missense variant)	Immunodeficiency 104 +6 more	GConflicting classifications of pathogenicity
Select item 427020	NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	RAG2 (D65Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 496619	NM_000536.4(RAG2):c.186C>A (p.Phe62Leu)	RAG2 (F62L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 13131	NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	RAG2 (C41W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic/Likely pathogenic
Select item 496618	NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	RAG2 (G35V)	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 36716	NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	RAG2 (G35A)	Single nucleotide variant (missense variant)	Inborn error of immunity +5 more	GConflicting classifications of pathogenicity

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Items: 20