C1832322[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 536958	NM_000448.3(RAG1):c.101G>A (p.Arg34Gln)	RAG1 (R34Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GUncertain significance
Select item 639278	NM_000448.3(RAG1):c.432G>T (p.Lys144Asn)	RAG1 (K144N)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GUncertain significance
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 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 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 1072413	NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)	RAG1 (R404Q)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +4 more	GPathogenic
Select item 68680	NM_000448.3(RAG1):c.1303A>G (p.Met435Val)	RAG1 (M435V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +5 more	GPathogenic/Likely pathogenic
Select item 68684	NM_000448.3(RAG1):c.1421G>A (p.Arg474His)	RAG1 (R474H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +5 more	GPathogenic
Select item 847066	NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr)	RAG1 (A622T)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +3 more	GUncertain significance
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 488725	NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)	RAG1 (R897*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency disease +5 more	GPathogenic
Select item 850980	NM_000448.3(RAG1):c.2753G>A (p.Arg918His)	RAG1 (R918H)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to partial RAG1 deficiency +4 more	GUncertain significance
Select item 973665	NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr)	RAG1 (S982Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more	GUncertain significance
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 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 845488	NM_000536.4(RAG2):c.733C>T (p.Pro245Ser)	RAG2 (P245S)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 1339534	NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)	RAG2 (R159C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis +2 more	GPathogenic/Likely pathogenic
Select item 304556	NM_000536.4(RAG2):c.368G>A (p.Arg123His)	RAG2 (R123H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
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 879522	NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)	RAG2 (D25G)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 1959	NM_000022.4(ADA):c.986C>T (p.Ala329Val)	ADA (A329V +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic FDA Recognized database

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Items: 22