"Illumina Laboratory Services, Illumina"[submitter] AND "RAG1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 304487	NM_000448.3(RAG1):c.-114G>A	RAG1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304488	NM_000448.3(RAG1):c.-65A>G	RAG1	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 304489	NM_000448.3(RAG1):c.-15+12A>G	RAG1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 304490	NM_000448.3(RAG1):c.-10C>T	RAG1	Single nucleotide variant (5 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
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 304492	NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)	RAG1 (S13A)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 304493	NM_000448.3(RAG1):c.152A>T (p.Asp51Val)	RAG1 (D51V)	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 877524	NM_000448.3(RAG1):c.187C>G (p.Pro63Ala)	RAG1 (P63A)	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 36711	NM_000448.3(RAG1):c.189A>G (p.Pro63=)	RAG1	Single nucleotide variant (synonymous variant)	Histiocytic medullary reticulosis +5 more	GBenign/Likely benign
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 733202	NM_000448.3(RAG1):c.276C>T (p.His92=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +2 more	GConflicting classifications of pathogenicity
Select item 877525	NM_000448.3(RAG1):c.296G>A (p.Gly99Asp)	RAG1 (G99D)	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 138882	NM_000448.3(RAG1):c.303G>A (p.Ala101=)	RAG1	Single nucleotide variant (synonymous variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 36714	NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)	RAG1 (R108*)	Single nucleotide variant (nonsense)	RAG1-Related Disorders +5 more	GPathogenic/Likely pathogenic
Select item 878546	NM_000448.3(RAG1):c.335G>T (p.Arg112Leu)	RAG1 (R112L)	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 878547	NM_000448.3(RAG1):c.354T>A (p.Phe118Leu)	RAG1 (F118L)	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 304494	NM_000448.3(RAG1):c.382C>T (p.Pro128Ser)	RAG1 (P128S)	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 879137	NM_000448.3(RAG1):c.425G>A (p.Arg142Gln)	RAG1 (R142Q)	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 879138	NM_000448.3(RAG1):c.486T>A (p.Asp162Glu)	RAG1 (D162E)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely benign FDA Recognized database
Select item 304495	NM_000448.3(RAG1):c.577G>A (p.Glu193Lys)	RAG1 (E193K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 304496	NM_000448.3(RAG1):c.592A>C (p.Arg198=)	RAG1	Single nucleotide variant (synonymous variant)	RAG1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 880341	NM_000448.3(RAG1):c.597C>T (p.Asn199=)	RAG1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GConflicting classifications of pathogenicity
Select item 304497	NM_000448.3(RAG1):c.653G>A (p.Arg218His)	RAG1 (R218H)	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 536967	NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)	RAG1 (Q242R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely benign FDA Recognized database
Select item 304498	NM_000448.3(RAG1):c.739C>T (p.Arg247Cys)	RAG1 (R247C)	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 304499	NM_000448.3(RAG1):c.799G>A (p.Ala267Thr)	RAG1 (A267T)	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 877567	NM_000448.3(RAG1):c.831G>A (p.Lys277=)	RAG1	Single nucleotide variant (synonymous variant)	Histiocytic medullary reticulosis +2 more	GConflicting classifications of pathogenicity
Select item 36715	NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)	RAG1 (D302E)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 844758	NM_000448.3(RAG1):c.1048G>A (p.Val350Ile)	RAG1 (V350I)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GUncertain significance
Select item 469110	NM_000448.3(RAG1):c.1060C>A (p.Leu354Met)	RAG1 (L354M)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GUncertain significance
Select item 583401	NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)	RAG1 (M355T)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 304500	NM_000448.3(RAG1):c.1077A>G (p.Pro359=)	RAG1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 864677	NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser)	RAG1 (T403S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GUncertain significance
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 304501	NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp)	RAG1 (A456D)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GConflicting classifications of pathogenicity
Select item 860691	NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn)	RAG1 (K558N)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 880388	NM_000448.3(RAG1):c.1770G>T (p.Leu590=)	RAG1	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 880389	NM_000448.3(RAG1):c.1786G>A (p.Val596Met)	RAG1 (V596M)	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 304502	NM_000448.3(RAG1):c.2110A>G (p.Ile704Val)	RAG1 (I704V)	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 304503	NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg)	RAG1 (K809R)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GUncertain significance
Select item 877626	NM_000448.3(RAG1):c.2428A>G (p.Ile810Val)	RAG1 (I810V)	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 256189	NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg)	RAG1 (K820R)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
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 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 469113	NM_000448.3(RAG1):c.2571C>T (p.Ala857=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +4 more	GConflicting classifications of pathogenicity
Select item 304504	NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys)	RAG1 (E876K)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +3 more	GUncertain significance
Select item 138884	NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys)	RAG1 (E880K)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GBenign FDA Recognized database
Select item 304505	NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn)	RAG1 (D887N)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GBenign/Likely benign
Select item 304506	NM_000448.3(RAG1):c.2751G>A (p.Gln917=)	RAG1	Single nucleotide variant (synonymous variant)	Recombinase activating gene 1 deficiency	GLikely benign FDA Recognized database
Select item 469114	NM_000448.3(RAG1):c.2799A>G (p.Gly933=)	RAG1	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +2 more	GConflicting classifications of pathogenicity
Select item 304507	NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile)	RAG1 (T942I)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 256190	NM_000448.3(RAG1):c.2880A>G (p.Ala960=)	RAG1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 703025	NM_000448.3(RAG1):c.2955T>C (p.Tyr985=)	RAG1	Single nucleotide variant (synonymous variant)	Histiocytic medullary reticulosis +2 more	GBenign/Likely benign
Select item 304508	NM_000448.3(RAG1):c.2968G>A (p.Val990Ile)	RAG1 (V990I)	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 536963	NM_000448.3(RAG1):c.3016A>G (p.Met1006Val)	RAG1 (M1006V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 880425	NM_000448.3(RAG1):c.*47T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304509	NM_000448.3(RAG1):c.*200C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304510	NM_000448.3(RAG1):c.*238G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 877670	NM_000448.3(RAG1):c.*273G>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304511	NM_000448.3(RAG1):c.*344G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 878682	NM_000448.3(RAG1):c.*362T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 878683	NM_000448.3(RAG1):c.*363T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304512	NM_000448.3(RAG1):c.*370G>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304513	NM_000448.3(RAG1):c.*386del	RAG1	Deletion (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304514	NM_000448.3(RAG1):c.*398G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 879292	NM_000448.3(RAG1):c.*420T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304515	NM_000448.3(RAG1):c.*589G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 879293	NM_000448.3(RAG1):c.*627A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 879294	NM_000448.3(RAG1):c.*709A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304516	NM_000448.3(RAG1):c.*739C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304517	NM_000448.3(RAG1):c.*766A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304518	NM_000448.3(RAG1):c.*834dup	RAG1	Duplication (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304519	NM_000448.3(RAG1):c.*856C>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 880470	NM_000448.3(RAG1):c.*1074G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304520	NM_000448.3(RAG1):c.*1083C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 304521	NM_000448.3(RAG1):c.*1101G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 877706	NM_000448.3(RAG1):c.*1111G>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 877707	NM_000448.3(RAG1):c.*1124C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304522	NM_000448.3(RAG1):c.*1130A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 878738	NM_000448.3(RAG1):c.*1146C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 878739	NM_000448.3(RAG1):c.*1178G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GBenign
Select item 878740	NM_000448.3(RAG1):c.*1277G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 878741	NM_000448.3(RAG1):c.*1287T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 879330	NM_000448.3(RAG1):c.*1293G>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 879331	NM_000448.3(RAG1):c.*1307C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GLikely benign
Select item 304523	NM_000448.3(RAG1):c.*1366A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 879332	NM_000448.3(RAG1):c.*1478C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 880523	NM_000448.3(RAG1):c.*1515T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 880524	NM_000448.3(RAG1):c.*1539G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304524	NM_000448.3(RAG1):c.*1562A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304525	NM_000448.3(RAG1):c.*1611G>A	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304526	NM_000448.3(RAG1):c.*1701T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304527	NM_000448.3(RAG1):c.*1705A>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 877747	NM_000448.3(RAG1):c.*1732C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 877748	NM_000448.3(RAG1):c.*1767A>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 878781	NM_000448.3(RAG1):c.*1978C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Histiocytic medullary reticulosis +1 more	GBenign
Select item 878782	NM_000448.3(RAG1):c.*2012T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304528	NM_000448.3(RAG1):c.*2211C>T	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance
Select item 304529	NM_000448.3(RAG1):c.*2246T>C	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GBenign
Select item 304530	NM_000448.3(RAG1):c.*2289T>G	RAG1	Single nucleotide variant (3 prime UTR variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +1 more	GUncertain significance

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