CN257931[trait identifier] AND "ClinGen Severe Combined Immunodeficien - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 650904	NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)	RAG2 (L466F)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
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 496629	NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp)	RAG2 (C446W)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
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 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 304552	NM_000536.4(RAG2):c.1095T>C (p.Ser365=)	RAG2	Single nucleotide variant (synonymous variant)	Recombinase activating gene 2 deficiency	GLikely benign FDA Recognized database
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 304553	NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)	RAG2 (E303D)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 256378	NM_000536.4(RAG2):c.878A>G (p.Glu293Gly)	RAG2 (E293G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GBenign FDA Recognized database
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 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 857069	NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)	RAG2 (R167S)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 36720	NM_000536.4(RAG2):c.328A>C (p.Met110Leu)	RAG2 (M110L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 2163677	NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)	RAG2 (N101S)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
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 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 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 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 13136	NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	RAG2 (R39G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
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 1901178	NM_000536.4(RAG2):c.95G>T (p.Gly32Val)	RAG2 (G32V)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 990456	NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)	RAG2 (G26A)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 879522	NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)	RAG2 (D25G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 658239	NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)	RAG2 (N23S)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 857533	NM_000536.4(RAG2):c.53G>T (p.Gly18Val)	RAG2 (G18V)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 2301303	NM_000536.4(RAG2):c.48G>T (p.Gln16His)	RAG2 (Q16H)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 573475	NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)	RAG2 (I12T)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 1349574	NM_000536.4(RAG2):c.25A>G (p.Ser9Gly)	RAG2 (S9G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 138885	NM_000536.4(RAG2):c.22G>A (p.Val8Ile)	RAG2 (V8I)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely benign FDA Recognized database
Select item 990457	NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)	RAG2 (T7A)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 304560	NM_000536.4(RAG2):c.14T>A (p.Met5Lys)	RAG2 (M5K)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 1512780	NM_000536.4(RAG2):c.13A>T (p.Met5Leu)	RAG2 (M5L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 2019436	NM_000536.4(RAG2):c.3G>A (p.Met1Ile)	RAG2 (M1I)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 488726	NM_000536.4(RAG2):c.2T>C (p.Met1Thr)	RAG2 (M1T)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database
Select item 624606	NM_000536.4(RAG2):c.1A>G (p.Met1Val)	RAG2 (M1V)	Single nucleotide variant (missense variant +1 more)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database

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Items: 41