Related gene-specific medical variations for Gene (Select 5897) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 3240269	NM_000536.4(RAG2):c.951del (p.Trp317fs)	RAG2 (W317fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
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 3240267	NM_000536.4(RAG2):c.924_930dup (p.Ile311fs)	RAG2 (I311fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
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 3240265	NM_000536.4(RAG2):c.535dup (p.Leu179fs)	RAG2 (L179fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
Select item 2690685	NM_000536.4(RAG2):c.1043T>A (p.Leu348Ter)	RAG2 (L348*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2678219	NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)	RAG2 (N428fs)	Duplication (frameshift variant)	Combined immunodeficiency with skin granulomas	GLikely pathogenic
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 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 2678215	NM_000536.4(RAG2):c.171del (p.Lys58fs)	RAG2 (K58fs)	Deletion (frameshift variant)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 2678213	NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)	RAG2	Microsatellite (nonsense)	Combined immunodeficiency with skin granulomas	GPathogenic
Select item 1277632	NM_138787.4(IFTAP):c.-108G>C	IFTAP, LOC130005577 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1245703	NM_138787.4(IFTAP):c.-24+636C>T	IFTAP, RAG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 990457	NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)	RAG2 (T7A)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990456	NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)	RAG2 (G26A)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990455	NM_000536.4(RAG2):c.328A>G (p.Met110Val)	RAG2 (M110V)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990454	NM_000536.4(RAG2):c.335T>C (p.Ile112Thr)	RAG2 (I112T)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990451	NM_000536.4(RAG2):c.911C>T (p.Thr304Ile)	RAG2 (T304I)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990450	NM_000536.4(RAG2):c.917A>G (p.Asp306Gly)	RAG2 (D306G)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990448	NM_000536.4(RAG2):c.986T>G (p.Leu329Arg)	RAG2 (L329R)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990447	NM_000536.4(RAG2):c.1037A>G (p.Tyr346Cys)	RAG2 (Y346C)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 990446	NM_000536.4(RAG2):c.1109A>G (p.Glu370Gly)	RAG2 (E370G)	Single nucleotide variant (missense variant)	Histiocytic medullary reticulosis	GUncertain significance
Select item 879888	NM_138787.4(IFTAP):c.-24+3628C>A	IFTAP, RAG2	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 636599	NM_000536.4(RAG2):c.273C>A (p.Tyr91Ter)	RAG2 (Y91*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 496634	NM_000536.4(RAG2):c.1442A>C (p.His481Pro)	RAG2 (H481P)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +1 more	GUncertain significance
Select item 496631	NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr)	RAG2 (A456T)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 496627	NM_000536.4(RAG2):c.1329G>T (p.Met443Ile)	RAG2 (M443I)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 496626	NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn)	RAG2 (K440N)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 496625	NM_000536.4(RAG2):c.758C>G (p.Pro253Arg)	RAG2 (P253R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GUncertain significance
Select item 496623	NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp)	RAG2 (Y195D)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +1 more	GLikely pathogenic
Select item 496622	NM_000536.4(RAG2):c.470G>T (p.Gly157Val)	RAG2 (G157V)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 496621	NM_000536.4(RAG2):c.283G>C (p.Gly95Arg)	RAG2 (G95R)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GUncertain significance
Select item 496619	NM_000536.4(RAG2):c.186C>A (p.Phe62Leu)	RAG2 (F62L)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency +2 more	GLikely pathogenic
Select item 304562	NM_138787.4(IFTAP):c.-24+3633T>G	IFTAP, RAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Histiocytic medullary reticulosis +1 more	GUncertain significance
Select item 304561	NM_138787.4(IFTAP):c.-24+3619A>G	IFTAP, RAG2	Single nucleotide variant (5 prime UTR variant +1 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +2 more	GBenign

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Links from Gene

Items: 38