ClinVar for Gene (Select 4792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375259	NM_020529.3(NFKBIA):c.874G>C (p.Glu292Gln)	NFKBIA (E292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3373483	NM_020529.3(NFKBIA):c.273G>A (p.Met91Ile)	NFKBIA (M91I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373178	NM_020529.3(NFKBIA):c.155T>C (p.Ile52Thr)	NFKBIA (I52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345509	NM_020529.3(NFKBIA):c.901_904del (p.Asp301fs)	NFKBIA (D301fs)	Deletion (frameshift variant)	NFKBIA-related disorder	GUncertain significance
Select item 3299536	NM_020529.3(NFKBIA):c.157C>G (p.Arg53Gly)	NFKBIA (R53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257989	NM_020529.3(NFKBIA):c.197G>A (p.Trp66Ter)	NFKBIA (W66*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3197881	NM_020529.3(NFKBIA):c.838C>A (p.Leu280Met)	NFKBIA (L280M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063313	GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3	FAM177A1, NFKBIA +4 more	Copy number gain	not specified	GUncertain significance
Select item 3053422	NM_020529.3(NFKBIA):c.228-5dup	NFKBIA	Duplication (intron variant)	NFKBIA-related disorder	GLikely benign
Select item 3017784	NM_020529.3(NFKBIA):c.165G>C (p.Glu55Asp)	NFKBIA (E55D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 3006548	NM_020529.3(NFKBIA):c.899A>C (p.Glu300Ala)	NFKBIA (E300A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 3005266	NM_020529.3(NFKBIA):c.555G>A (p.Thr185=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2993188	NM_020529.3(NFKBIA):c.526C>T (p.Leu176=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2981964	NM_020529.3(NFKBIA):c.473C>G (p.Ala158Gly)	NFKBIA (A158G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2979792	NM_020529.3(NFKBIA):c.419G>A (p.Arg140Gln)	LOC130055494, NFKBIA (R140Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2976390	NM_020529.3(NFKBIA):c.12G>A (p.Ala4=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2965837	NM_020529.3(NFKBIA):c.184G>A (p.Gly62Ser)	NFKBIA (G62S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2920577	NM_020529.3(NFKBIA):c.228-8C>A	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2920041	NM_020529.3(NFKBIA):c.373G>C (p.Glu125Gln)	LOC130055494, NFKBIA (E125Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2917049	NM_020529.3(NFKBIA):c.145C>T (p.Leu49=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2913825	NM_020529.3(NFKBIA):c.947C>T (p.Thr316Met)	NFKBIA (T316M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2899403	NM_020529.3(NFKBIA):c.192G>A (p.Glu64=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2894894	NM_020529.3(NFKBIA):c.660C>T (p.Ala220=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2894370	NM_020529.3(NFKBIA):c.822A>G (p.Leu274=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2890549	NM_020529.3(NFKBIA):c.336+18C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2877584	NM_020529.3(NFKBIA):c.595G>A (p.Val199Met)	NFKBIA (V199M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2876029	NM_020529.3(NFKBIA):c.653G>A (p.Arg218Gln)	NFKBIA (R218Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2866289	NM_020529.3(NFKBIA):c.158G>A (p.Arg53His)	NFKBIA (R53H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2840992	NM_020529.3(NFKBIA):c.527T>C (p.Leu176Pro)	NFKBIA (L176P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2838988	NM_020529.3(NFKBIA):c.336+9C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2820461	NM_020529.3(NFKBIA):c.595G>C (p.Val199Leu)	NFKBIA (V199L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2814061	NM_020529.3(NFKBIA):c.612C>T (p.Ser204=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2810954	NM_020529.3(NFKBIA):c.439C>A (p.Pro147Thr)	LOC130055494, NFKBIA (P147T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2809837	NM_020529.3(NFKBIA):c.636+5G>A	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2808955	NM_020529.3(NFKBIA):c.2T>C (p.Met1Thr)	LOC130055497, NFKBIA (M1T)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2808478	NM_020529.3(NFKBIA):c.252T>C (p.His84=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2802297	NM_020529.3(NFKBIA):c.301C>A (p.Leu101Met)	NFKBIA (L101M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2800444	NM_020529.3(NFKBIA):c.927G>C (p.Val309=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2797149	NM_020529.3(NFKBIA):c.784A>T (p.Ser262Cys)	NFKBIA (S262C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2793722	NM_020529.3(NFKBIA):c.252T>G (p.His84Gln)	NFKBIA (H84Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2789619	NM_020529.3(NFKBIA):c.337-17C>G	LOC130055494, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2784324	NM_020529.3(NFKBIA):c.838C>G (p.Leu280Val)	NFKBIA (L280V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2781322	NM_020529.3(NFKBIA):c.74T>C (p.Leu25Pro)	LOC130055497, NFKBIA (L25P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2779739	NM_020529.3(NFKBIA):c.336+12G>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2776511	NM_020529.3(NFKBIA):c.185G>A (p.Gly62Asp)	NFKBIA (G62D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2758078	NM_020529.3(NFKBIA):c.570C>T (p.Ala190=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2757382	NM_020529.3(NFKBIA):c.222G>A (p.Gly74=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2752019	NM_020529.3(NFKBIA):c.693C>A (p.Asp231Glu)	NFKBIA (D231E)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2751254	NM_020529.3(NFKBIA):c.366C>G (p.Asn122Lys)	LOC130055494, NFKBIA (N122K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2744616	NM_020529.3(NFKBIA):c.907-15del	NFKBIA	Deletion (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GBenign
Select item 2742287	NM_020529.3(NFKBIA):c.499T>C (p.Cys167Arg)	NFKBIA (C167R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2741101	NM_020529.3(NFKBIA):c.779G>A (p.Arg260His)	NFKBIA (R260H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2735725	NM_020529.3(NFKBIA):c.441C>G (p.Pro147=)	LOC130055494, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2735723	NM_020529.3(NFKBIA):c.594C>T (p.Ile198=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2731297	NM_020529.3(NFKBIA):c.685A>G (p.Asn229Asp)	NFKBIA (N229D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2728827	NM_020529.3(NFKBIA):c.51C>T (p.Arg17=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2726107	NM_020529.3(NFKBIA):c.208C>G (p.Leu70Val)	NFKBIA (L70V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2725932	NM_020529.3(NFKBIA):c.461A>G (p.Gln154Arg)	NFKBIA (Q154R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2724326	NM_020529.3(NFKBIA):c.841C>A (p.Pro281Thr)	NFKBIA (P281T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2712343	NM_020529.3(NFKBIA):c.720G>A (p.Gly240=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2707903	NM_020529.3(NFKBIA):c.672A>C (p.Ala224=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2707552	NM_020529.3(NFKBIA):c.732C>T (p.Asn244=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2707391	NM_020529.3(NFKBIA):c.792G>C (p.Arg264=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2701588	NM_020529.3(NFKBIA):c.912C>G (p.Pro304=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2701568	NM_020529.3(NFKBIA):c.392T>G (p.Leu131Arg)	LOC130055494, NFKBIA (L131R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2689579	NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys)	NFKBIA (Y195C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644165	NM_020529.3(NFKBIA):c.610T>A (p.Ser204Thr)	NFKBIA (S204T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635721	NM_020529.3(NFKBIA):c.3G>A (p.Met1Ile)	LOC130055497, NFKBIA (M1I)	Single nucleotide variant (missense variant +1 more)	NFKBIA-related disorder	GUncertain significance
Select item 2581077	NM_020529.3(NFKBIA):c.101T>C (p.Leu34Pro)	NFKBIA	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GPathogenic
Select item 2577914	NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)	LOC130055497, NFKBIA (E10*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia and immunodeficiency 2	GPathogenic
Select item 2543418	NM_020529.3(NFKBIA):c.415C>T (p.Leu139Phe)	LOC130055494, NFKBIA (L139F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541651	NM_020529.3(NFKBIA):c.691G>T (p.Asp231Tyr)	NFKBIA (D231Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2415844	NM_020529.3(NFKBIA):c.565T>C (p.Leu189=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2415041	NM_020529.3(NFKBIA):c.310C>T (p.Leu104Phe)	NFKBIA (L104F)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2325875	NM_020529.3(NFKBIA):c.475A>G (p.Ser159Gly)	NFKBIA (S159G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279436	NM_020529.3(NFKBIA):c.882G>T (p.Glu294Asp)	NFKBIA (E294D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GUncertain significance
Select item 2197521	NM_020529.3(NFKBIA):c.419G>C (p.Arg140Pro)	NFKBIA, LOC130055494 (R140P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2186828	NM_020529.3(NFKBIA):c.525C>G (p.Ile175Met)	NFKBIA (I175M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2185126	NM_020529.3(NFKBIA):c.581G>A (p.Gly194Asp)	NFKBIA (G194D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2182642	NM_020529.3(NFKBIA):c.44G>A (p.Gly15Asp)	LOC130055497, NFKBIA (G15D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2180980	NM_020529.3(NFKBIA):c.826A>G (p.Asn276Asp)	NFKBIA (N276D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2179054	NM_020529.3(NFKBIA):c.547+11C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2175980	NM_020529.3(NFKBIA):c.336+4C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2169347	NM_020529.3(NFKBIA):c.19C>T (p.Arg7Cys)	LOC130055497, NFKBIA (R7C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2163225	NM_020529.3(NFKBIA):c.637-14C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2161496	NM_020529.3(NFKBIA):c.636+15C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2155610	NM_020529.3(NFKBIA):c.27G>A (p.Gln9=)	LOC130055497, NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2153678	NM_020529.3(NFKBIA):c.636+4G>A	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2153415	NM_020529.3(NFKBIA):c.904G>A (p.Glu302Lys)	NFKBIA (E302K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2148619	NM_020529.3(NFKBIA):c.848G>A (p.Ser283Asn)	NFKBIA (S283N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2143995	NM_020529.3(NFKBIA):c.509C>T (p.Pro170Leu)	NFKBIA (P170L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2 +1 more	GUncertain significance
Select item 2141964	NM_020529.3(NFKBIA):c.752A>G (p.Tyr251Cys)	NFKBIA (Y251C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2134265	NM_020529.3(NFKBIA):c.478G>C (p.Val160Leu)	NFKBIA (V160L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2113492	NM_020529.3(NFKBIA):c.227+5G>A	LOC130055496, NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 2113283	NM_020529.3(NFKBIA):c.750C>G (p.Gly250=)	NFKBIA	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign
Select item 2104931	NM_020529.3(NFKBIA):c.336+7C>T	NFKBIA	Single nucleotide variant (intron variant)	Ectodermal dysplasia and immunodeficiency 2	GLikely benign

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