IRF8[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688451	NM_002163.4(IRF8):c.-1-232_-1-223dup	IRF8	Duplication (intron variant)	not specified	GBenign
Select item 2688522	NM_002163.4(IRF8):c.-1-228_-1-219dup	IRF8	Duplication (intron variant)	not specified	GBenign
Select item 2688371	NM_002163.4(IRF8):c.-1-232T>A	IRF8	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688439	NM_002163.4(IRF8):c.-1-220_-1-219insGGGCTGCAGG	IRF8	Insertion (intron variant)	not specified	GBenign
Select item 2688429	NM_002163.4(IRF8):c.-1-220_-1-219insCGGCTGCAGG	IRF8	Insertion (intron variant)	not specified	GBenign
Select item 2688262	NM_002163.4(IRF8):c.-1-219_-1-218insGGCTGCAGGA	IRF8	Insertion (intron variant)	not specified	GBenign
Select item 1156289	NM_002163.4(IRF8):c.6T>C (p.Cys2=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 265520	NM_002163.4(IRF8):c.9C>G (p.Asp3Glu)	IRF8 (D3E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423144	NM_002163.4(IRF8):c.10C>T (p.Arg4Trp)	IRF8 (R4W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103841	NM_002163.4(IRF8):c.16GGT[1] (p.Gly7del)	IRF8 (G17del +1 more)	Microsatellite (inframe_deletion +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1495521	NM_002163.4(IRF8):c.19G>A (p.Gly7Ser)	IRF8 (G17S +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1450455	NM_002163.4(IRF8):c.22C>T (p.Arg8Trp)	IRF8 (R18W +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1001633	NM_002163.4(IRF8):c.25C>T (p.Arg9Trp)	IRF8 (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1489204	NM_002163.4(IRF8):c.35A>T (p.Gln12Leu)	IRF8 (Q22L +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2015852	NM_002163.4(IRF8):c.36G>A (p.Gln12=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 1123899	NM_002163.4(IRF8):c.45C>T (p.Ile15=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 835895	NM_002163.4(IRF8):c.45C>G (p.Ile15Met)	IRF8 (I25M +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2933165	NM_002163.4(IRF8):c.46G>A (p.Glu16Lys)	IRF8 (E16K +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 3341827	NM_002163.4(IRF8):c.53T>C (p.Ile18Thr)	IRF8 (I18T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2932090	NM_002163.4(IRF8):c.56A>G (p.Asp19Gly)	IRF8 (D19G +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1041891	NM_002163.4(IRF8):c.58A>G (p.Ser20Gly)	IRF8 (S20G +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2930627	NM_002163.4(IRF8):c.59G>A (p.Ser20Asn)	IRF8 (S20N +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 3258017	NM_002163.4(IRF8):c.67T>C (p.Tyr23His)	IRF8 (Y33H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OLikely oncogenic
Select item 1061796	NM_002163.4(IRF8):c.68A>G (p.Tyr23Cys)	IRF8 (Y23C +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 942130	NM_002163.4(IRF8):c.70C>G (p.Pro24Ala)	IRF8 (P24A +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1632052	NM_002163.4(IRF8):c.75A>G (p.Gly25=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1983684	NM_002163.4(IRF8):c.81T>C (p.Ile27=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 1081916	NM_002163.4(IRF8):c.81T>A (p.Ile27=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 1920899	NM_002163.4(IRF8):c.87G>A (p.Glu29=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2944705	NM_002163.4(IRF8):c.98A>G (p.Lys33Arg)	IRF8 (K43R +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 937364	NM_002163.4(IRF8):c.101G>A (p.Ser34Asn)	IRF8 (S44N +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2192826	NM_002163.4(IRF8):c.102C>G (p.Ser34Arg)	IRF8 (S34R +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1520897	NM_002163.4(IRF8):c.104T>C (p.Met35Thr)	IRF8 (M35T +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 723205	NM_002163.4(IRF8):c.126C>T (p.His42=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2117397	NM_002163.4(IRF8):c.130G>A (p.Gly44Ser)	IRF8 (G44S +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1017927	NM_002163.4(IRF8):c.174G>A (p.Lys58=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1039492	NM_002163.4(IRF8):c.174+4A>G	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2932955	NM_002163.4(IRF8):c.174+18C>T	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 661293	NM_002163.4(IRF8):c.184G>A (p.Val62Ile)	IRF8 (V62I +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1057123	NM_002163.4(IRF8):c.218C>T (p.Ala73Val)	IRF8 (A73V +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1442418	NM_002163.4(IRF8):c.227C>T (p.Ala76Val)	IRF8 (A86V +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 56843	NM_002163.4(IRF8):c.238A>G (p.Thr80Ala)	IRF8 (T80A +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	GPathogenic
Select item 835195	NM_002163.4(IRF8):c.239C>G (p.Thr80Arg)	IRF8 (T80R +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1719498	NM_002163.4(IRF8):c.250T>C (p.Cys84Arg)	IRF8 (C84R +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1108756	NM_002163.4(IRF8):c.261T>C (p.Asn87=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 733440	NM_002163.4(IRF8):c.287C>T (p.Thr96Met)	IRF8 (T96M +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2175386	NM_002163.4(IRF8):c.288G>A (p.Thr96=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 942479	NM_002163.4(IRF8):c.289G>A (p.Asp97Asn)	IRF8 (D97N +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2949943	NM_002163.4(IRF8):c.293G>A (p.Arg98Gln)	IRF8 (R98Q +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 2688501	NM_002163.4(IRF8):c.359-100T>C	IRF8	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2938812	NM_002163.4(IRF8):c.359-16G>A	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1664146	NM_002163.4(IRF8):c.359-7T>A	IRF8	Single nucleotide variant (intron variant)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1101774	NM_002163.4(IRF8):c.359-6C>T	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 1134415	NM_002163.4(IRF8):c.359-4G>C	IRF8	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1095765	NM_002163.4(IRF8):c.359-4G>A	IRF8	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1441596	NM_002163.4(IRF8):c.362A>T (p.Lys121Ile)	IRF8 (K131I +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1415567	NM_002163.4(IRF8):c.369C>T (p.Gly123=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 542154	NM_002163.4(IRF8):c.370G>A (p.Val124Met)	IRF8 (V124M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 2526913	NM_002163.4(IRF8):c.371T>A (p.Val124Glu)	IRF8 (V124E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2151249	NM_002163.4(IRF8):c.376A>G (p.Thr126Ala)	IRF8 (T136A +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2160209	NM_002163.4(IRF8):c.377C>G (p.Thr126Ser)	IRF8 (T136S +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1495140	NM_002163.4(IRF8):c.380C>T (p.Ala127Val)	IRF8 (A137V +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1985947	NM_002163.4(IRF8):c.381T>G (p.Ala127=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 1402849	NM_002163.4(IRF8):c.381T>A (p.Ala127=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 475390	NM_002163.4(IRF8):c.387C>T (p.Cys129=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +2 more	GBenign
Select item 2062412	NM_002163.4(IRF8):c.388G>A (p.Val130Met)	IRF8 (V140M +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1365636	NM_002163.4(IRF8):c.388_389delinsAA (p.Val130Lys)	IRF8 (V130K +1 more)	Indel (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1042665	NM_002163.4(IRF8):c.398T>C (p.Val133Ala)	IRF8 (V133A +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 542143	NM_002163.4(IRF8):c.406A>G (p.Met136Val)	IRF8 (M136V +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1522989	NM_002163.4(IRF8):c.413G>A (p.Cys138Tyr)	IRF8 (C138Y +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1168657	NM_002163.4(IRF8):c.414C>T (p.Cys138=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 542142	NM_002163.4(IRF8):c.414C>G (p.Cys138Trp)	IRF8 (C138W +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 725422	NM_002163.4(IRF8):c.415G>A (p.Gly139Ser)	IRF8 (G149S +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +2 more	GLikely benign
Select item 2079182	NM_002163.4(IRF8):c.417T>A (p.Gly139=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1606111	NM_002163.4(IRF8):c.417T>G (p.Gly139=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1356570	NM_002163.4(IRF8):c.418C>T (p.Arg140Cys)	IRF8 (R140C +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2096759	NM_002163.4(IRF8):c.419G>T (p.Arg140Leu)	IRF8 (R140L +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 424036	NM_002163.4(IRF8):c.419G>A (p.Arg140His)	IRF8 (R140H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1417272	NM_002163.4(IRF8):c.429C>T (p.Ile143=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 475391	NM_002163.4(IRF8):c.432C>T (p.Asp144=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +2 more	GBenign
Select item 950027	NM_002163.4(IRF8):c.433G>A (p.Glu145Lys)	IRF8 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2934722	NM_002163.4(IRF8):c.435G>A (p.Glu145=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2928752	NM_002163.4(IRF8):c.448-12C>G	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 2926554	NM_002163.4(IRF8):c.448-3C>T	IRF8	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2185265	NM_002163.4(IRF8):c.459C>T (p.Asp153=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2934699	NM_002163.4(IRF8):c.461A>T (p.Asp154Val)	IRF8 (D154V +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 1576553	NM_002163.4(IRF8):c.477C>T (p.Ile159=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1150911	NM_002163.4(IRF8):c.483G>A (p.Arg161=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GLikely benign
Select item 1038373	NM_002163.4(IRF8):c.485G>C (p.Ser162Thr)	IRF8 (S162T +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 845722	NM_002163.4(IRF8):c.486C>A (p.Ser162Arg)	IRF8 (S172R +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1596256	NM_002163.4(IRF8):c.495G>A (p.Pro165=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 542148	NM_002163.4(IRF8):c.495G>T (p.Pro165=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GBenign
Select item 1393276	NM_002163.4(IRF8):c.497C>T (p.Pro166Leu)	IRF8 (P176L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2938683	NM_002163.4(IRF8):c.498G>T (p.Pro166=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2165470	NM_002163.4(IRF8):c.498G>A (p.Pro166=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 645748	NM_002163.4(IRF8):c.508C>G (p.Arg170Gly)	IRF8 (R170G +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance
Select item 2924061	NM_002163.4(IRF8):c.510G>C (p.Arg170=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 2954347	NM_002163.4(IRF8):c.519C>G (p.Leu173=)	IRF8	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 32B +1 more	GLikely benign
Select item 1486936	NM_002163.4(IRF8):c.528C>A (p.Asp176Glu)	IRF8 (D186E +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 32B +1 more	GUncertain significance
Select item 1432901	NM_002163.4(IRF8):c.530G>C (p.Trp177Ser)	IRF8 (W177S +1 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency +1 more	GUncertain significance

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