C2673536[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921388	NM_000448.3(RAG1):c.206del (p.Ala69fs)	RAG1 (A69fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
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 36714	NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)	RAG1 (R108*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic/Likely pathogenic
Select item 427093	NM_000448.3(RAG1):c.335G>A (p.Arg112His)	RAG1 (R112H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 626157	NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	RAG1 (R142*)	Single nucleotide variant (nonsense)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 624599	NM_000448.3(RAG1):c.519del (p.Glu174fs)	RAG1 (E174fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 372487	NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)	RAG1 (C176F)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 1997718	NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)	RAG1 (W180*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2678202	NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)	RAG1 (W204fs)	Insertion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2678201	NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)	RAG1 (A246fs)	Indel (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 235411	NM_000448.3(RAG1):c.775del (p.Ser259fs)	RAG1 (S259fs)	Deletion (frameshift variant)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 13156	NM_000448.3(RAG1):c.940C>T (p.Arg314Trp)	RAG1 (R314W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 13160	NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)	RAG1 (C328Y)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 649706	NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)	RAG1 (R332*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GPathogenic
Select item 660211	NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp)	RAG1 (R394W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 13146	NM_000448.3(RAG1):c.1187G>A (p.Arg396His)	RAG1 (R396H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 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 1072413	NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	RAG1 (R404Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GPathogenic
Select item 859249	NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)	RAG1 (R410W)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 1033033	NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser)	RAG1 (A422S)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GUncertain significance
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 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 2095853	NM_000448.3(RAG1):c.1366del (p.Ala456fs)	RAG1 (A456fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 68683	NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys)	RAG1 (R474C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 68684	NM_000448.3(RAG1):c.1421G>A (p.Arg474His)	RAG1 (R474H)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 1033034	NM_000448.3(RAG1):c.1480A>G (p.Ile494Val)	RAG1 (I494V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GUncertain significance
Select item 2160473	NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)	RAG1 (Q501*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2678208	NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)	RAG1 (W522*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 36710	NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	RAG1 (W522C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic
Select item 13150	NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)	RAG1 (I538fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 13148	NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)	RAG1 (R561C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic
Select item 13143	NM_000448.3(RAG1):c.1682G>A (p.Arg561His)	RAG1 (R561H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 68686	NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys)	RAG1 (R624C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 68687	NM_000448.3(RAG1):c.1871G>A (p.Arg624His)	RAG1 (R624H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 68689	NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)	RAG1 (R699W)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GLikely pathogenic FDA Recognized database
Select item 2678211	NM_000448.3(RAG1):c.2143del (p.Val715fs)	RAG1 (V715fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 871801	NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)	RAG1 (R716W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GPathogenic/Likely pathogenic
Select item 13139	NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys)	RAG1 (E722K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 871802	NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter)	RAG1 (C733*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 2506198	NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)	RAG1 (R737C)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 13149	NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	RAG1 (R737H)	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 68690	NM_000448.3(RAG1):c.2258A>T (p.His753Leu)	RAG1 (H753L)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 859248	NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)	RAG1 (R759C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GLikely pathogenic
Select item 13140	NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter)	RAG1 (E774*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 13161	NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)	RAG1 (R776W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 1704499	NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)	RAG1 (R776Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 13158	NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln)	RAG1 (R778Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +4 more	GPathogenic
Select item 2416596	NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)	RAG1 (V782D)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GLikely pathogenic
Select item 573434	NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)	RAG1 (S783*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 2678212	NM_000448.3(RAG1):c.2449del (p.Glu817fs)	RAG1 (E817fs)	Deletion (frameshift variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1034220	NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer)	RAG1	Indel (nonsense)	Recombinase activating gene 1 deficiency	GPathogenic FDA Recognized database
Select item 13154	NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)	RAG1 (R841W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 2137056	NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)	RAG1 (R841Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +4 more	GPathogenic/Likely pathogenic
Select item 2678195	NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)	RAG1 (L872*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic
Select item 488725	NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)	RAG1 (R897*)	Single nucleotide variant (nonsense)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic
Select item 418451	NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)	RAG1 (R897Q)	Single nucleotide variant (missense variant)	Recombinase activating gene 1 deficiency	GUncertain significance FDA Recognized database
Select item 1323517	NM_000448.3(RAG1):c.2850del (p.Ile950fs)	RAG1 (I950fs)	Deletion (frameshift variant)	Histiocytic medullary reticulosis +3 more	GPathogenic/Likely pathogenic
Select item 1075542	NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)	RAG1 (I956T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 855458	NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys)	RAG1 (R973C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 2678205	NM_000448.3(RAG1):c.2918G>A (p.Arg973His)	RAG1 (R973H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 13159	NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)	RAG1 (R975W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic/Likely pathogenic
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 372488	NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)	RAG1 (K992E)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GPathogenic
Select item 1457784	NM_000448.3(RAG1):c.3074dup (p.Leu1025fs)	RAG1 (L1025fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas +2 more	GPathogenic/Likely pathogenic
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 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

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