"Baylor Genetics"[submitter] AND "RAG2"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13129	NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)	RAG2 (C478Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GConflicting classifications of pathogenicity
Select item 191271	NM_000536.4(RAG2):c.1403_1406del (p.His468fs)	RAG2 (H468fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1069293	NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs)	RAG2 (L469fs)	Duplication (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic/Likely pathogenic
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 1029903	NM_000536.4(RAG2):c.1336T>A (p.Cys446Ser)	RAG2 (C446S)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas	GUncertain significance
Select item 496628	NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)	RAG2 (I444M)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic 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 1321365	NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu)	RAG2 (P432L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 949466	NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)	RAG2 (W430*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +2 more	GLikely pathogenic
Select item 2678219	NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)	RAG2 (N428fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely 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 2678213	NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)	RAG2	Microsatellite (nonsense)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 2678217	NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter)	RAG2 (Y346*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 500475	NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)	RAG2 (G319*)	Single nucleotide variant (nonsense)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 3240269	NM_000536.4(RAG2):c.951del (p.Trp317fs)	RAG2 (W317fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678214	NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)	RAG2 (W317*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
Select item 3240267	NM_000536.4(RAG2):c.924_930dup (p.Ile311fs)	RAG2 (I311fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 1452768	NM_000536.4(RAG2):c.859del (p.Cys287fs)	RAG2 (C287fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic
Select item 3240266	NM_000536.4(RAG2):c.831T>A (p.Tyr277Ter)	RAG2 (Y277*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 1075544	NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	RAG2 (Y277fs)	Duplication (frameshift variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 1068713	NM_000536.4(RAG2):c.724dup (p.Leu242fs)	RAG2 (L242fs)	Duplication (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic/Likely pathogenic
Select item 1029904	NM_000536.4(RAG2):c.686G>C (p.Arg229Pro)	RAG2 (R229P)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
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 3240270	NM_000536.4(RAG2):c.683del (p.Ile228fs)	RAG2 (I228fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678216	NM_000536.4(RAG2):c.548dup (p.Leu184fs)	RAG2 (L184fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
Select item 3240265	NM_000536.4(RAG2):c.535dup (p.Leu179fs)	RAG2 (L179fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2678220	NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)	RAG2 (S160*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +1 more	GPathogenic/Likely pathogenic
Select item 1339534	NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)	RAG2 (R159C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 418452	NM_000536.4(RAG2):c.464T>C (p.Leu155Pro)	RAG2 (L155P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GPathogenic/Likely pathogenic
Select item 1073477	NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)	RAG2 (R148*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +2 more	GPathogenic
Select item 952544	NM_000536.4(RAG2):c.385_389del (p.Leu129fs)	RAG2 (L129fs)	Deletion (frameshift variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GPathogenic/Likely pathogenic
Select item 704774	NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)	RAG2 (R123C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GConflicting classifications of pathogenicity
Select item 2678222	NM_000536.4(RAG2):c.356del (p.Lys119fs)	RAG2 (K119fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 13133	NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	RAG2 (G95R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
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)	Combined immunodeficiency with skin granulomas +6 more	GConflicting classifications of pathogenicity
Select item 36719	NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)	RAG2 (R73C)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 2678215	NM_000536.4(RAG2):c.171del (p.Lys58fs)	RAG2 (K58fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 2678218	NM_000536.4(RAG2):c.133_146del (p.Val45fs)	RAG2 (V45fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 1412375	NM_000536.4(RAG2):c.130G>T (p.Gly44Ter)	RAG2 (G44*)	Single nucleotide variant (nonsense)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 1029902	NM_000536.4(RAG2):c.110C>T (p.Pro37Leu)	RAG2 (P37L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GConflicting classifications of pathogenicity
Select item 496618	NM_000536.4(RAG2):c.104G>T (p.Gly35Val)	RAG2 (G35V)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +5 more	GPathogenic/Likely pathogenic
Select item 36716	NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	RAG2 (G35A)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 3240268	NM_000536.4(RAG2):c.43del (p.Ile15fs)	RAG2 (I15fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 3240271	NM_000536.4(RAG2):c.41T>A (p.Leu14Ter)	RAG2 (L14*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas	GLikely pathogenic

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Items: 46