IRAG1[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 3110750	NM_130385.4(IRAG1):c.2624A>T (p.Tyr875Phe)	IRAG1, IRAG1-AS1 (Y669F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614977	NM_130385.4(IRAG1):c.2600T>C (p.Val867Ala)	IRAG1, IRAG1-AS1 (V847A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536070	NM_130385.4(IRAG1):c.2545T>C (p.Cys849Arg)	IRAG1, IRAG1-AS1 (C758R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540570	NM_130385.4(IRAG1):c.2429G>A (p.Ser810Asn)	IRAG1, IRAG1-AS1 (S802N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110748	NM_130385.4(IRAG1):c.2372G>A (p.Gly791Asp)	IRAG1, IRAG1-AS1 (G476D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110747	NM_130385.4(IRAG1):c.2317C>A (p.Gln773Lys)	IRAG1, IRAG1-AS1 (Q753K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110745	NM_130385.4(IRAG1):c.2192G>A (p.Gly731Glu)	IRAG1, IRAG1-AS1 (G416E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110744	NM_130385.4(IRAG1):c.2177C>T (p.Ser726Leu)	IRAG1, IRAG1-AS1 (S411L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110743	NM_130385.4(IRAG1):c.2074C>T (p.Pro692Ser)	IRAG1, IRAG1-AS1 (P601S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110742	NM_130385.4(IRAG1):c.2033G>T (p.Arg678Leu)	IRAG1, IRAG1-AS1 +1 more (R587L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110741	NM_130385.4(IRAG1):c.2033G>A (p.Arg678His)	IRAG1, IRAG1-AS1 +1 more (R587H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110740	NM_130385.4(IRAG1):c.1984A>C (p.Asn662His)	IRAG1 (N642H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110739	NM_130385.4(IRAG1):c.1955C>T (p.Ala652Val)	IRAG1 (A632V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618276	NM_130385.4(IRAG1):c.1883G>T (p.Arg628Leu)	IRAG1 (R620L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519775	NM_130385.4(IRAG1):c.1834C>T (p.Arg612Cys)	IRAG1 (R612C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110737	NM_130385.4(IRAG1):c.1804G>A (p.Asp602Asn)	IRAG1 (D287N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110736	NM_130385.4(IRAG1):c.1778G>A (p.Arg593Gln)	IRAG1 (R502Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110735	NM_130385.4(IRAG1):c.1742C>T (p.Thr581Met)	IRAG1 (T573M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110733	NM_130385.4(IRAG1):c.1696G>A (p.Glu566Lys)	IRAG1 (E251K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780950	NM_130385.4(IRAG1):c.1602+10T>G	IRAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3110732	NM_130385.4(IRAG1):c.1585A>G (p.Thr529Ala)	IRAG1 (T438A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110731	NM_130385.4(IRAG1):c.1558A>C (p.Ser520Arg)	IRAG1 (S205R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110730	NM_130385.4(IRAG1):c.1538G>A (p.Arg513His)	IRAG1 (R198H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110729	NM_130385.4(IRAG1):c.1516A>G (p.Asn506Asp)	IRAG1 (N415D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532660	NM_130385.4(IRAG1):c.1453C>G (p.Pro485Ala)	IRAG1 (P279A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548353	NM_130385.4(IRAG1):c.1411C>T (p.Leu471Phe)	IRAG1 (L265F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110728	NM_130385.4(IRAG1):c.1373A>G (p.His458Arg)	IRAG1 (H450R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466572	NM_130385.4(IRAG1):c.1276G>T (p.Ala426Ser)	IRAG1 (A111S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110725	NM_130385.4(IRAG1):c.1262G>A (p.Arg421His)	IRAG1 (R106H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709991	NM_130385.4(IRAG1):c.1213C>T (p.Arg405Trp)	IRAG1 (R314W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3110723	NM_130385.4(IRAG1):c.1207G>A (p.Gly403Ser)	IRAG1 (G383S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468276	NM_130385.4(IRAG1):c.1150G>C (p.Val384Leu)	IRAG1 (V376L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110722	NM_130385.4(IRAG1):c.1109T>C (p.Met370Thr)	IRAG1 (M362T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534903	NM_130385.4(IRAG1):c.1102G>A (p.Glu368Lys)	IRAG1 (E348K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786593	NM_130385.4(IRAG1):c.1083G>C (p.Gln361His)	IRAG1 (Q270H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3110721	NM_130385.4(IRAG1):c.1064T>C (p.Val355Ala)	IRAG1 (V40A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110720	NM_130385.4(IRAG1):c.1048C>G (p.Gln350Glu)	IRAG1 (Q330E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529790	NM_130385.4(IRAG1):c.1034C>T (p.Pro345Leu)	IRAG1 (P30L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110718	NM_130385.4(IRAG1):c.1001T>G (p.Leu334Arg)	IRAG1 (L243R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110764	NM_130385.4(IRAG1):c.976G>T (p.Val326Leu)	IRAG1 (V326L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110763	NM_130385.4(IRAG1):c.925G>A (p.Val309Ile)	IRAG1 (V289I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562645	NM_130385.4(IRAG1):c.911A>G (p.Lys304Arg)	IRAG1 (K304R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110762	NM_130385.4(IRAG1):c.853A>G (p.Ile285Val)	IRAG1 (I265V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110761	NM_130385.4(IRAG1):c.824G>A (p.Arg275His)	IRAG1 (R275H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468926	NM_130385.4(IRAG1):c.818C>T (p.Ala273Val)	IRAG1 (A265V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110760	NM_130385.4(IRAG1):c.813G>T (p.Arg271Ser)	IRAG1 (R180S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484907	NM_130385.4(IRAG1):c.770C>T (p.Ala257Val)	IRAG1 (A237V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535778	NM_130385.4(IRAG1):c.752A>G (p.Asn251Ser)	IRAG1 (N160S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2641597	NM_130385.4(IRAG1):c.716A>C (p.Glu239Ala)	IRAG1 (E148A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2513794	NM_130385.4(IRAG1):c.682C>G (p.Pro228Ala)	IRAG1 (P137A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110757	NM_130385.4(IRAG1):c.647C>T (p.Pro216Leu)	IRAG1 (P216L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641598	NM_130385.4(IRAG1):c.600C>T (p.Ser200=)	IRAG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2524372	NM_130385.4(IRAG1):c.584C>T (p.Pro195Leu)	IRAG1 (P186L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1227222	NM_130385.4(IRAG1):c.583C>T (p.Pro195Ser)	IRAG1 (P104S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2641599	NM_130385.4(IRAG1):c.523C>T (p.Leu175=)	IRAG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3110756	NM_130385.4(IRAG1):c.507G>C (p.Leu169Phe)	IRAG1 (L169F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110754	NM_130385.4(IRAG1):c.409G>T (p.Gly137Trp)	IRAG1 (G128W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110753	NM_130385.4(IRAG1):c.407C>T (p.Ala136Val)	IRAG1 (A134V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025246	NM_130385.4(IRAG1):c.347A>G (p.Lys116Arg)	IRAG1 (K107R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3110752	NM_130385.4(IRAG1):c.326A>G (p.Asn109Ser)	IRAG1 (N100S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110751	NM_130385.4(IRAG1):c.266C>T (p.Thr89Met)	IRAG1 (T87M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110749	NM_130385.4(IRAG1):c.238G>A (p.Ala80Thr)	IRAG1 (A78T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3110746	NM_130385.4(IRAG1):c.220G>A (p.Gly74Ser)	IRAG1 (G74S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2589810	NM_130385.4(IRAG1):c.213C>G (p.Ser71Arg)	IRAG1 (S62R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2641600	NM_130385.4(IRAG1):c.193G>C (p.Glu65Gln)	IRAG1 (E56Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3110738	NM_130385.4(IRAG1):c.191G>T (p.Gly64Val)	IRAG1 (G61V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483088	NM_130385.4(IRAG1):c.147G>C (p.Gln49His)	IRAG1 (Q40H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110726	NM_130385.4(IRAG1):c.131G>A (p.Arg44His)	IRAG1 (R35H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110724	NM_130385.4(IRAG1):c.122C>T (p.Pro41Leu)	IRAG1 (P32L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768427	NM_130385.4(IRAG1):c.109G>A (p.Ala37Thr)	IRAG1 (A28T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3110759	NM_130385.4(IRAG1):c.71G>A (p.Cys24Tyr)	IRAG1 (C15Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110755	NM_130385.4(IRAG1):c.41G>C (p.Gly14Ala)	IRAG1 (G14A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2605258	NM_130385.4(IRAG1):c.13C>T (p.Pro5Ser)	IRAG1 (P5S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063208	GRCh37/hg19 11p15.4(chr11:9926943-10622476)x1	ADM, AMPD3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic

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Items: 86