IRF9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 1922460	NM_006084.5(IRF9):c.8C>T (p.Ser3Leu)	IRF9 (S3L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1986673	NM_006084.5(IRF9):c.19C>T (p.Arg7Cys)	IRF9 (R7C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776823	NM_006084.5(IRF9):c.51G>A (p.Val17=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2121179	NM_006084.5(IRF9):c.54G>A (p.Glu18=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488096	NM_006084.5(IRF9):c.65G>C (p.Ser22Thr)	IRF9 (S22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984331	NM_006084.5(IRF9):c.68G>A (p.Gly23Glu)	IRF9 (G23E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185413	NM_006084.5(IRF9):c.78C>T (p.Pro26=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776647	NM_006084.5(IRF9):c.79G>A (p.Gly27Arg)	IRF9 (G27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781705	NM_006084.5(IRF9):c.87C>T (p.Cys29=)	IRF9	Single nucleotide variant (synonymous variant)	IRF9-related condition +1 more	GBenign/Likely benign
Select item 776824	NM_006084.5(IRF9):c.99A>T (p.Thr33=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1657482	NM_006084.5(IRF9):c.105G>A (p.Lys35=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472545	NM_006084.5(IRF9):c.107C>T (p.Thr36Ile)	IRF9 (T36I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787110	NM_006084.5(IRF9):c.108C>T (p.Thr36=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3006463	NM_006084.5(IRF9):c.132T>C (p.His44=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133041	NM_006084.5(IRF9):c.147C>T (p.Asp49=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410256	NM_006084.5(IRF9):c.152G>A (p.Arg51Gln)	IRF9 (R51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090439	NM_006084.5(IRF9):c.167C>G (p.Ala56Gly)	IRF9 (A56G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408659	NM_006084.5(IRF9):c.180+6A>G	IRF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1529031	NM_006084.5(IRF9):c.180+9G>A	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672911	NM_006084.5(IRF9):c.180+20A>C	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863764	NM_006084.5(IRF9):c.181-8T>C	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591643	NM_006084.5(IRF9):c.181-6T>C	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869941	NM_006084.5(IRF9):c.181-4C>T	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965845	NM_006084.5(IRF9):c.181-3T>C	IRF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999694	NM_006084.5(IRF9):c.189A>G (p.Ala63=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755624	NM_006084.5(IRF9):c.203del (p.Lys68fs)	IRF9 (K68fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2031818	NM_006084.5(IRF9):c.216G>A (p.Gly72=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516144	NM_006084.5(IRF9):c.217G>C (p.Asp73His)	IRF9 (D73H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820737	NM_006084.5(IRF9):c.231A>C (p.Pro77=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909451	NM_006084.5(IRF9):c.236T>C (p.Val79Ala)	IRF9 (V79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861307	NM_006084.5(IRF9):c.238T>C (p.Trp80Arg)	IRF9 (W80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489669	NM_006084.5(IRF9):c.266A>G (p.Asn89Ser)	IRF9 (N89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562943	NM_006084.5(IRF9):c.305G>A (p.Arg102His)	IRF9 (R102H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2746926	NM_006084.5(IRF9):c.320_345del (p.Glu107fs)	IRF9 (E107fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1662113	NM_006084.5(IRF9):c.315T>C (p.Val105=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784979	NM_006084.5(IRF9):c.324C>T (p.Pro108=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621126	NM_006084.5(IRF9):c.326A>T (p.Tyr109Phe)	IRF9 (Y109F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2818615	NM_006084.5(IRF9):c.350C>A (p.Pro117Gln)	IRF9 (P117Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286994	NM_006084.5(IRF9):c.353G>T (p.Gly118Val)	IRF9 (G118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2644131	NM_006084.5(IRF9):c.357C>T (p.Ile119=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067567	NM_006084.5(IRF9):c.358G>A (p.Val120Ile)	IRF9 (V120I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943107	NM_006084.5(IRF9):c.364+5G>A	IRF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2788792	NM_006084.5(IRF9):c.364+12C>T	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986599	NM_006084.5(IRF9):c.364+19A>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109145	NM_006084.5(IRF9):c.365-16C>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960008	NM_006084.5(IRF9):c.365-14C>T	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936384	NM_006084.5(IRF9):c.365-13A>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645693	NM_006084.5(IRF9):c.365-11C>T	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797220	NM_006084.5(IRF9):c.365-8T>C	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573486	NM_006084.5(IRF9):c.365-7T>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 732996	NM_006084.5(IRF9):c.381G>C (p.Gln127His)	IRF9 (Q127H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2171296	NM_006084.5(IRF9):c.389C>T (p.Pro130Leu)	IRF9 (P130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981239	NM_006084.5(IRF9):c.391T>A (p.Ser131Thr)	IRF9 (S131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964024	NM_006084.5(IRF9):c.396G>A (p.Lys132=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137152	NM_006084.5(IRF9):c.401A>C (p.Gln134Pro)	IRF9 (Q134P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280726	NM_006084.5(IRF9):c.405C>G (p.His135Gln)	IRF9 (H135Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1718269	NM_006084.5(IRF9):c.408T>G (p.Ser136Arg)	IRF9 (S136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375616	NM_006084.5(IRF9):c.412G>T (p.Val138Leu)	IRF9 (V138L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1949344	NM_006084.5(IRF9):c.423G>T (p.Glu141Asp)	IRF9 (E141D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430631	NM_006084.5(IRF9):c.454T>G (p.Cys152Gly)	IRF9 (C152G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1058941	NM_006084.5(IRF9):c.454T>C (p.Cys152Arg)	IRF9 (C152R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475845	NM_006084.5(IRF9):c.458C>T (p.Thr153Ile)	IRF9 (T153I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1418776	NM_006084.5(IRF9):c.463A>C (p.Ser155Arg)	IRF9 (S155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559020	NM_006084.5(IRF9):c.468C>T (p.Pro156=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2316440	NM_006084.5(IRF9):c.482A>T (p.Asp161Val)	IRF9 (D161V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380317	NM_006084.5(IRF9):c.493A>G (p.Asn165Asp)	IRF9 (N165D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599994	NM_006084.5(IRF9):c.495+7G>A	IRF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2016165	NM_006084.5(IRF9):c.495+11G>A	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540191	NM_006084.5(IRF9):c.495+19A>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630264	NM_006084.5(IRF9):c.495+20C>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991321	NM_006084.5(IRF9):c.496-17A>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754066	NM_006084.5(IRF9):c.496-10G>C	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002534	NM_006084.5(IRF9):c.496-9T>C	IRF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1443981	NM_006084.5(IRF9):c.496-5C>T	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548513	NM_006084.5(IRF9):c.496-4G>A	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1717287	NM_006084.5(IRF9):c.512G>A (p.Ser171Asn)	IRF9 (S171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199107	NM_006084.5(IRF9):c.514G>A (p.Gly172Arg)	IRF9 (G172R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404793	NM_006084.5(IRF9):c.514G>C (p.Gly172Arg)	IRF9 (G172R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355730	NM_006084.5(IRF9):c.514G>T (p.Gly172Trp)	IRF9 (G172W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911446	NM_006084.5(IRF9):c.516G>C (p.Gly172=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941837	NM_006084.5(IRF9):c.518G>A (p.Gly173Glu)	IRF9 (G173E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830602	NM_006084.5(IRF9):c.525C>T (p.Val175=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752569	NM_006084.5(IRF9):c.526del (p.His176fs)	IRF9 (H176fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2971907	NM_006084.5(IRF9):c.541AGC[10] (p.Ser187_Pro188insSerSerSer)	IRF9	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1925457	NM_006084.5(IRF9):c.541AGC[8] (p.Ser187_Pro188insSer)	IRF9	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1077910	NM_006084.5(IRF9):c.542G>A (p.Ser181Asn)	IRF9 (S181N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1578936	NM_006084.5(IRF9):c.564T>G (p.Pro188=)	IRF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867682	NM_006084.5(IRF9):c.574G>A (p.Glu192Lys)	IRF9 (E192K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431773	NM_006084.5(IRF9):c.577+2_577+4dup	IRF9	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 694057	NM_006084.5(IRF9):c.577+1G>T	IRF9	Single nucleotide variant (splice donor variant)	Immunodeficiency 65, susceptibility to viral infections	Grisk factor
Select item 1544589	NM_006084.5(IRF9):c.578-8C>G	IRF9	Single nucleotide variant (intron variant)	not provided	GLikely benign

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