NFKB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 2640789	NM_001077494.3(NFKB2):c.-72-473G>A	NFKB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640790	NM_002502.5(NFKB2):c.-232C>A	NFKB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 583684	NC_000010.10:g.(?_104155697)_(104162153_?)dup	LOC121815964, LOC130004598 +2 more	Duplication	Immunodeficiency, common variable, 10	GUncertain significance
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 965793	NM_001322934.2(NFKB2):c.4G>A (p.Glu2Lys)	NFKB2 (E2K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 752470	NM_001322934.2(NFKB2):c.9T>C (p.Ser3=)	NFKB2	Single nucleotide variant (synonymous 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 660112	NM_001322934.2(NFKB2):c.14A>G (p.Tyr5Cys)	NFKB2 (Y5C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 993820	NM_001322934.2(NFKB2):c.21+13G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GBenign/Likely benign
Select item 1529315	NM_001322934.2(NFKB2):c.21+15C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1973741	NM_001322934.2(NFKB2):c.21+18C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2092088	NM_001322934.2(NFKB2):c.22-18A>T	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1537639	NM_001322934.2(NFKB2):c.22-15C>G	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1624139	NM_001322934.2(NFKB2):c.22-7A>G	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1517693	NM_001322934.2(NFKB2):c.22G>C (p.Gly8Arg)	LOC130004598, NFKB2 (G8R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1989112	NM_001322934.2(NFKB2):c.27G>A (p.Leu9=)	NFKB2, LOC130004598	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2754038	NM_001322934.2(NFKB2):c.28G>A (p.Asp10Asn)	LOC130004598, NFKB2 (D10N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
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 2633915	NM_001322934.2(NFKB2):c.34A>G (p.Ile12Val)	LOC130004598, NFKB2 (I12V)	Single nucleotide variant (missense variant)	NFKB2-related disorder	GUncertain significance
Select item 474786	NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys)	LOC130004598, NFKB2 (E14K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GBenign
Select item 744780	NM_001322934.2(NFKB2):c.45T>C (p.Tyr15=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2166209	NM_001322934.2(NFKB2):c.48T>G (p.Asp16Glu)	LOC130004598, NFKB2 (D16E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1139904	NM_001322934.2(NFKB2):c.51T>C (p.Asp17=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1497588	NM_001322934.2(NFKB2):c.62A>G (p.Asn21Ser)	LOC130004598, NFKB2 (N21S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 710749	NM_001322934.2(NFKB2):c.66C>T (p.Ser22=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10 +1 more	GLikely benign
Select item 657769	NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala)	NFKB2 (V25A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 848557	NM_001322934.2(NFKB2):c.85G>C (p.Glu29Gln)	NFKB2 (E29Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1150925	NM_001322934.2(NFKB2):c.103+10T>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 982877	NM_001322934.2(NFKB2):c.104-1G>C	NFKB2	Single nucleotide variant (splice acceptor variant)	Immunodeficiency, common variable, 10	GLikely pathogenic
Select item 1307390	NM_001322934.2(NFKB2):c.106G>A (p.Asp36Asn)	NFKB2 (D36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145275	NM_001322934.2(NFKB2):c.114C>T (p.Pro38=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 734266	NM_001322934.2(NFKB2):c.118C>T (p.Leu40=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1384336	NM_001322934.2(NFKB2):c.143_144+38dup	NFKB2	Duplication (splice donor variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1481885	NM_001322934.2(NFKB2):c.143A>C (p.Gln48Pro)	NFKB2 (Q48P)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1377618	NM_001322934.2(NFKB2):c.144+18_144+21del	NFKB2	Microsatellite (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2737945	NM_001322934.2(NFKB2):c.144+17G>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2688390	NM_001322934.2(NFKB2):c.145-89dup	NFKB2	Duplication (intron variant)	not specified	GBenign
Select item 1636151	NM_001322934.2(NFKB2):c.145-15C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1977402	NM_001322934.2(NFKB2):c.145-6C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1467288	NM_001322934.2(NFKB2):c.145-5T>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 794037	NM_001322934.2(NFKB2):c.145-4T>G	NFKB2	Single nucleotide variant (intron 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 1706265	NM_001322934.2(NFKB2):c.146G>C (p.Arg49Thr)	NFKB2 (R49T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1512705	NM_001322934.2(NFKB2):c.155G>A (p.Arg52Gln)	NFKB2 (R52Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1102871	NM_001322934.2(NFKB2):c.159T>C (p.Phe53=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
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 1116671	NM_001322934.2(NFKB2):c.198C>T (p.Pro66=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1049748	NM_001322934.2(NFKB2):c.208A>T (p.Ser70Cys)	NFKB2 (S70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541635	NM_001322934.2(NFKB2):c.216G>A (p.Lys72=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1094935	NM_001322934.2(NFKB2):c.219C>T (p.Gly73=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1362535	NM_001322934.2(NFKB2):c.221G>A (p.Arg74Gln)	NFKB2 (R74Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1114292	NM_001322934.2(NFKB2):c.231T>C (p.Tyr77=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1520562	NM_001322934.2(NFKB2):c.243+3G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2013540	NM_001322934.2(NFKB2):c.243+6C>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1169589	NM_001322934.2(NFKB2):c.243+20G>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GBenign
Select item 1576101	NM_001322934.2(NFKB2):c.244-11G>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2200328	NM_001322934.2(NFKB2):c.244-5C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1161874	NM_001322934.2(NFKB2):c.255C>T (p.Tyr85=)	NFKB2	Single nucleotide variant (synonymous 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 1114833	NM_001322934.2(NFKB2):c.273C>T (p.Ile91=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1547851	NM_001322934.2(NFKB2):c.279G>A (p.Val93=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
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 659896	NM_001322934.2(NFKB2):c.292C>A (p.His98Asn)	NFKB2 (H98N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1390796	NM_001322934.2(NFKB2):c.295A>T (p.Ser99Cys)	NFKB2 (S99C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2120240	NM_001322934.2(NFKB2):c.307C>T (p.Arg103Cys)	NFKB2 (R103C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2051941	NM_001322934.2(NFKB2):c.315T>C (p.His105=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1576667	NM_001322934.2(NFKB2):c.321C>T (p.His107=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1125983	NM_001322934.2(NFKB2):c.325C>T (p.Leu109=)	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 796519	NM_001322934.2(NFKB2):c.345G>A (p.Ser115=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1623175	NM_001322934.2(NFKB2):c.357C>A (p.Ile119=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1122012	NM_001322934.2(NFKB2):c.360C>T (p.Cys120=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2722153	NM_001322934.2(NFKB2):c.361G>A (p.Ala121Thr)	NFKB2 (A121T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2741421	NM_001322934.2(NFKB2):c.364G>A (p.Val122Ile)	NFKB2 (V122I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2749998	NM_001322934.2(NFKB2):c.395+10C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2692879	NM_001322934.2(NFKB2):c.395+15C>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2195638	NM_001322934.2(NFKB2):c.395+15C>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1153464	NM_001322934.2(NFKB2):c.395+15C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2724889	NM_001322934.2(NFKB2):c.395+16G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2628274	NM_001322934.2(NFKB2):c.395+99A>G	NFKB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1529914	NM_001322934.2(NFKB2):c.396-19T>G	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1584466	NM_001322934.2(NFKB2):c.396-16G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
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 2855713	NM_001322934.2(NFKB2):c.396-7_396-6del	NFKB2	Deletion (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 541633	NM_001322934.2(NFKB2):c.396-5C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1543669	NM_001322934.2(NFKB2):c.402C>T (p.Asn134=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 730223	NM_001322934.2(NFKB2):c.414C>A (p.Val138=)	NFKB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738053	NM_001322934.2(NFKB2):c.415C>T (p.Leu139=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1121157	NM_001322934.2(NFKB2):c.420T>C (p.His140=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2265304	NM_001322934.2(NFKB2):c.428A>G (p.Lys143Arg)	NFKB2 (K143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000962	NM_001322934.2(NFKB2):c.438G>A (p.Met146Ile)	NFKB2 (M146I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1683526	NM_001322934.2(NFKB2):c.453A>G (p.Ile151Met)	NFKB2 (I151M)	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 2762363	NM_001322934.2(NFKB2):c.472C>A (p.Arg158=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 850730	NM_001322934.2(NFKB2):c.472C>T (p.Arg158Trp)	NFKB2 (R158W)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 2326499	NM_001322934.2(NFKB2):c.473G>A (p.Arg158Gln)	NFKB2 (R158Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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