IRAG2[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 155248	GRCh38/hg38 12p12.1(chr12:24552217-25193743)x3	BCAT1, DNAI7 +23 more	Copy number gain	See cases	GUncertain significance
Select item 160781	GRCh38/hg38 12p12.1(chr12:24638349-25193743)x3	BCAT1, DNAI7 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146060	GRCh38/hg38 12p12.1(chr12:24784088-25101275)x3	BCAT1, IRAG2 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2466149	NM_001366544.2(IRAG2):c.16A>C (p.Ser6Arg)	IRAG2 (S953R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532480	NM_001366544.2(IRAG2):c.26A>G (p.Glu9Gly)	IRAG2 (E9G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110769	NM_001366544.2(IRAG2):c.155T>A (p.Leu52Gln)	IRAG2 (L52Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110771	NM_001366544.2(IRAG2):c.188C>T (p.Ser63Leu)	IRAG2 (S10L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110772	NM_001366544.2(IRAG2):c.232A>T (p.Ile78Leu)	IRAG2 (I25L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110773	NM_001366544.2(IRAG2):c.256G>C (p.Ala86Pro)	IRAG2 (A1033P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110774	NM_001366544.2(IRAG2):c.304A>G (p.Ile102Val)	IRAG2 (I102V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110775	NM_001366544.2(IRAG2):c.746G>A (p.Ser249Asn)	IRAG2 (S196N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110776	NM_001366544.2(IRAG2):c.749G>A (p.Arg250Gln)	IRAG2 (R197Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523242	NM_001366544.2(IRAG2):c.794T>C (p.Leu265Ser)	IRAG2 (L1212S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110777	NM_001366544.2(IRAG2):c.797A>G (p.Lys266Arg)	IRAG2 (K1213R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604848	NM_001366544.2(IRAG2):c.875C>T (p.Pro292Leu)	IRAG2 (P239L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110778	NM_001366544.2(IRAG2):c.940T>C (p.Ser314Pro)	IRAG2 (S1261P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543412	NM_001366544.2(IRAG2):c.1019A>G (p.Asp340Gly)	IRAG2 (D287G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110765	NM_001366544.2(IRAG2):c.1049G>A (p.Arg350His)	IRAG2 (R1297H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469999	NM_001366544.2(IRAG2):c.1333A>G (p.Ile445Val)	DNAI7, IRAG2 (I1392V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2485725	NM_001366544.2(IRAG2):c.1394A>G (p.Lys465Arg)	DNAI7, IRAG2 (K465R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588011	NM_001366544.2(IRAG2):c.1408G>A (p.Ala470Thr)	DNAI7, IRAG2 (A1417T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110766	NM_001366544.2(IRAG2):c.1421A>G (p.Gln474Arg)	DNAI7, IRAG2 (Q421R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110767	NM_001366544.2(IRAG2):c.1490C>T (p.Pro497Leu)	DNAI7, IRAG2 (P444L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110768	NM_001366544.2(IRAG2):c.1493C>T (p.Pro498Leu)	DNAI7, IRAG2 (P1445L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1527698	GRCh37/hg19 12p12.1(chr12:24686645-25353987)	BCAT1, DNAI7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689186	GRCh37/hg19 12p12.1(chr12:24692382-25353945)x3	BCAT1, DNAI7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 666436	GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1	LINC02909, ETNK1 +4 more	Copy number loss	Lamb-Shaffer syndrome	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 493605	GRCh37/hg19 12p12.1(chr12:24970786-25307280)x3	BCAT1, DNAI7 +2 more	Copy number gain	not provided	GLikely benign
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442329	GRCh37/hg19 12p12.1(chr12:24687132-25353987)x3	ETFRF1, IRAG2 +4 more	Copy number gain	See cases	GLikely benign
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 395063	GRCh37/hg19 12p12.1(chr12:24965813-25225609)x3	BCAT1, IRAG2 +1 more	Copy number gain	See cases	GBenign
Select item 394879	GRCh37/hg19 12p12.1(chr12:25097583-25225609)x3	BCAT1, IRAG2 +1 more	Copy number gain	See cases	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 64