ClinVar for MedGen (Select 816321) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2777661	NM_001322934.2(NFKB2):c.1161C>T (p.Pro387=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2776314	NM_001322934.2(NFKB2):c.1286C>A (p.Thr429Asn)	LOC130004599, NFKB2 (T429N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2771593	NM_001322934.2(NFKB2):c.1798G>A (p.Gly600Arg)	NFKB2 (G558R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2771482	NM_001322934.2(NFKB2):c.1239C>G (p.Ser413Arg)	LOC130004599, NFKB2 (S371R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2766711	NM_001322934.2(NFKB2):c.1496G>A (p.Gly499Glu)	NFKB2 (G457E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
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 2756247	NM_001322934.2(NFKB2):c.1837C>T (p.Pro613Ser)	NFKB2 (P571S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
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 2753278	NM_001322934.2(NFKB2):c.1283G>A (p.Arg428Lys)	LOC130004599, NFKB2 (R428K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2751763	NM_001322934.2(NFKB2):c.2232C>G (p.Thr744=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2751082	NM_001322934.2(NFKB2):c.1835G>A (p.Ser612Asn)	NFKB2 (S570N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2750018	NM_001322934.2(NFKB2):c.1798+3G>A	NFKB2	Single nucleotide variant (intron 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 2749970	NM_001322934.2(NFKB2):c.1225G>C (p.Ala409Pro)	NFKB2, LOC130004599 (A409P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2748852	NM_001322934.2(NFKB2):c.1202G>A (p.Gly401Asp)	LOC130004599, NFKB2 (G359D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance

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