ClinVar for Gene (Select 4791) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363340	NM_001322934.2(NFKB2):c.1586C>T (p.Thr529Met)	NFKB2 (T487M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360296	NM_001322934.2(NFKB2):c.1427_1447dup (p.Thr482_Ala483insGlyGlnArgHisLeuLeuThr)	NFKB2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3340687	NM_001322934.2(NFKB2):c.1416_1417del (p.Leu473fs)	NFKB2 (L431fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3299534	NM_001322934.2(NFKB2):c.1828G>T (p.Ala610Ser)	NFKB2 (A568S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256505	NM_001322934.2(NFKB2):c.1129G>C (p.Gly377Arg)	LOC130004599, NFKB2 (G335R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253518	NM_001322934.2(NFKB2):c.1346G>T (p.Arg449Leu)	LOC130004599, NFKB2 (R407L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252868	NM_001322934.2(NFKB2):c.1739C>G (p.Ala580Gly)	NFKB2 (A538G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3197860	NM_001322934.2(NFKB2):c.944G>A (p.Gly315Glu)	NFKB2 (G315E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197849	NM_001322934.2(NFKB2):c.2350G>C (p.Gly784Arg)	NFKB2 (G742R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3054225	NM_001322934.2(NFKB2):c.-10G>T	NFKB2	Single nucleotide variant (5 prime UTR variant)	NFKB2-related disorder	GLikely benign
Select item 3044691	NM_001322934.2(NFKB2):c.945G>A (p.Gly315=)	NFKB2	Single nucleotide variant (synonymous variant)	NFKB2-related disorder	GLikely benign
Select item 3030923	NM_001322934.2(NFKB2):c.1187G>T (p.Gly396Val)	LOC130004599, NFKB2 (G354V +1 more)	Single nucleotide variant (missense variant)	NFKB2-related disorder	GUncertain significance
Select item 3030910	NM_001322934.2(NFKB2):c.2184C>T (p.Phe728=)	NFKB2	Single nucleotide variant (synonymous variant)	NFKB2-related disorder	GLikely benign
Select item 3022677	NM_001322934.2(NFKB2):c.2072-11C>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3016851	NM_001322934.2(NFKB2):c.2584G>C (p.Val862Leu)	NFKB2 (V820L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3014432	NM_001322934.2(NFKB2):c.1458G>A (p.Glu486=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3014298	NM_001322934.2(NFKB2):c.609C>T (p.Gly203=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3009920	NM_001322934.2(NFKB2):c.669G>C (p.Pro223=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3009549	NM_001322934.2(NFKB2):c.766+15C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3009505	NM_001322934.2(NFKB2):c.852+9G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3008908	NM_001322934.2(NFKB2):c.1461C>T (p.Asn487=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3007755	NM_001322934.2(NFKB2):c.1954C>T (p.His652Tyr)	NFKB2 (H652Y +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3003678	NM_001322934.2(NFKB2):c.1713C>T (p.Gly571=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2996432	NM_001322934.2(NFKB2):c.1643G>A (p.Arg548Gln)	NFKB2 (R506Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2995812	NM_001322934.2(NFKB2):c.1182C>A (p.Pro394=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2993053	NM_001322934.2(NFKB2):c.1476G>A (p.Leu492=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2982939	NM_001322934.2(NFKB2):c.853-14C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2982582	NM_001322934.2(NFKB2):c.13T>G (p.Tyr5Asp)	NFKB2 (Y5D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2978883	NM_001322934.2(NFKB2):c.1821A>C (p.Ala607=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GBenign
Select item 2977835	NM_001322934.2(NFKB2):c.1089A>G (p.Ala363=)	NFKB2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2975170	NM_001322934.2(NFKB2):c.1192T>C (p.Tyr398His)	LOC130004599, NFKB2 (Y398H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2971219	NM_001322934.2(NFKB2):c.766+8T>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2961282	NM_001322934.2(NFKB2):c.991+14G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2960980	NM_001322934.2(NFKB2):c.2145G>T (p.Ser715=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2957651	NM_001322934.2(NFKB2):c.1969-18C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2957035	NM_001322934.2(NFKB2):c.1759C>T (p.Pro587Ser)	NFKB2 (P545S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2920242	NM_001322934.2(NFKB2):c.1781A>G (p.His594Arg)	NFKB2 (H594R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2916931	NM_001322934.2(NFKB2):c.285G>C (p.Leu95=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2915458	NM_001322934.2(NFKB2):c.2596_2597del (p.Ser866fs)	NFKB2 (S866fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2914933	NM_001322934.2(NFKB2):c.1497G>A (p.Gly499=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2910968	NM_001322934.2(NFKB2):c.852+24_852+29del	NFKB2	Microsatellite (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2909632	NM_001322934.2(NFKB2):c.2071+10del	NFKB2	Deletion (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2908016	NM_001322934.2(NFKB2):c.498T>C (p.Leu166=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2907032	NM_001322934.2(NFKB2):c.2496G>A (p.Leu832=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2906382	NM_001322934.2(NFKB2):c.1318C>T (p.Leu440=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2901024	NM_001322934.2(NFKB2):c.1603G>A (p.Val535Met)	NFKB2 (V535M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2899717	NM_001322934.2(NFKB2):c.2055C>T (p.Arg685=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2899470	NM_001322934.2(NFKB2):c.344C>T (p.Ser115Leu)	NFKB2 (S115L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2899159	NM_001322934.2(NFKB2):c.992-12C>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2893578	NM_001322934.2(NFKB2):c.1354G>A (p.Gly452Ser)	NFKB2 (G410S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2892417	NM_001322934.2(NFKB2):c.471G>A (p.Gln157=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2889656	NM_001322934.2(NFKB2):c.853-19G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2884972	NM_001322934.2(NFKB2):c.256G>A (p.Glu86Lys)	NFKB2 (E86K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2884030	NM_001322934.2(NFKB2):c.2603A>G (p.Tyr868Cys)	NFKB2 (Y826C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2882299	NM_001322934.2(NFKB2):c.177C>T (p.Gly59=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2880483	NM_001322934.2(NFKB2):c.1090G>A (p.Ala364Thr)	NFKB2 (A364T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2879860	NM_001322934.2(NFKB2):c.1170C>T (p.Ser390=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2876380	NM_001322934.2(NFKB2):c.1343C>T (p.Ala448Val)	LOC130004599, NFKB2 (A448V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2874273	NM_001322934.2(NFKB2):c.396-9T>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2866255	NM_001322934.2(NFKB2):c.2183T>G (p.Phe728Cys)	NFKB2 (F686C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2864669	NM_001322934.2(NFKB2):c.2125C>T (p.Pro709Ser)	NFKB2 (P709S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2862889	NM_001322934.2(NFKB2):c.2304G>A (p.Leu768=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2860561	NM_001322934.2(NFKB2):c.767-8C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2855713	NM_001322934.2(NFKB2):c.396-7_396-6del	NFKB2	Deletion (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2847491	NM_001322934.2(NFKB2):c.1642_1668del (p.Arg548_Leu556del)	NFKB2	Deletion (inframe_indel +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2841967	NM_001322934.2(NFKB2):c.2445C>T (p.Gly815=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2837376	NM_001322934.2(NFKB2):c.145-3C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2836764	NM_001322934.2(NFKB2):c.2294-12T>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2829273	NM_001322934.2(NFKB2):c.1219A>G (p.Met407Val)	LOC130004599, NFKB2 (M407V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2827867	NM_001322934.2(NFKB2):c.672G>A (p.Gly224=)	NFKB2, LOC121815964	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2823722	NM_001322934.2(NFKB2):c.633A>G (p.Pro211=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2820845	NM_001322934.2(NFKB2):c.1084G>C (p.Gly362Arg)	NFKB2 (G362R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2820698	NM_001322934.2(NFKB2):c.1225G>T (p.Ala409Ser)	LOC130004599, NFKB2 (A367S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2819135	NM_001322934.2(NFKB2):c.902G>A (p.Arg301Gln)	NFKB2 (R301Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2818088	NM_001322934.2(NFKB2):c.2332C>T (p.Leu778=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2817019	NM_001322934.2(NFKB2):c.2550_2557del (p.Glu851fs)	NFKB2 (E809fs +1 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2817008	NM_001322934.2(NFKB2):c.1584+5G>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2815539	NM_001322934.2(NFKB2):c.888G>C (p.Lys296Asn)	NFKB2 (K296N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2813023	NM_001322934.2(NFKB2):c.2579-13C>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2812892	NM_001322934.2(NFKB2):c.1050C>A (p.Phe350Leu)	NFKB2 (F350L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2812418	NM_001322934.2(NFKB2):c.2579-6C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2809802	NM_001322934.2(NFKB2):c.1799G>A (p.Gly600Glu)	NFKB2 (G558E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2809104	NM_001322934.2(NFKB2):c.1581C>A (p.His527Gln)	NFKB2 (H527Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2806925	NM_001322934.2(NFKB2):c.1117+15_1117+17del	NFKB2	Deletion (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2800202	NM_001322934.2(NFKB2):c.991+4G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2794256	NM_001322934.2(NFKB2):c.1035C>T (p.Thr345=)	NFKB2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2793436	NM_001322934.2(NFKB2):c.1683C>T (p.Asp561=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2792227	NM_001322934.2(NFKB2):c.1024G>C (p.Ala342Pro)	NFKB2 (A342P)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2791003	NM_001322934.2(NFKB2):c.1079C>T (p.Ser360Phe)	NFKB2 (S360F)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2788194	NM_001322934.2(NFKB2):c.1218G>A (p.Gln406=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2787729	NM_001322934.2(NFKB2):c.29A>G (p.Asp10Gly)	LOC130004598, NFKB2 (D10G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2787452	NM_001322934.2(NFKB2):c.853-11G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2785737	NM_001322934.2(NFKB2):c.482C>T (p.Ser161Phe)	NFKB2 (S161F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2784972	NM_001322934.2(NFKB2):c.1328-4G>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2782419	NM_001322934.2(NFKB2):c.852+18C>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2781194	NM_001322934.2(NFKB2):c.502+20G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2780885	NM_001322934.2(NFKB2):c.1687G>C (p.Ala563Pro)	NFKB2 (A521P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2778763	NM_001322934.2(NFKB2):c.853-8C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign

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