ClinVar for Gene (Select 4790) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369999	NM_003998.4(NFKB1):c.2779G>C (p.Asp927His)	NFKB1 (D913H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369769	NM_003998.4(NFKB1):c.746C>T (p.Ser249Phe)	NFKB1 (S235F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361108	NM_003998.4(NFKB1):c.2140G>T (p.Asp714Tyr)	NFKB1 (D700Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341875	NM_003998.4(NFKB1):c.1409A>G (p.Gln470Arg)	NFKB1 (Q456R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252404	NM_003998.4(NFKB1):c.2820del (p.Glu941fs)	NFKB1 (E927fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3246731	NC_000004.11:g.(?_103450973)_(103451091_?)del	NFKB1	Deletion	not provided	GPathogenic
Select item 3246730	NC_000004.11:g.(?_103516029)_(103516158_?)del	NFKB1	Deletion	not provided	GUncertain significance
Select item 3246728	NC_000004.11:g.(?_101947022)_(104640852_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 3242029	NM_003998.4(NFKB1):c.927+2T>C	NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 3068256	NM_003998.4(NFKB1):c.2240del (p.Leu747fs)	NFKB1 (L733fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 3067787	NM_003998.4(NFKB1):c.2342C>T (p.Thr781Ile)	NFKB1 (T767I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067603	NM_003998.4(NFKB1):c.1160G>A (p.Gly387Asp)	NFKB1 (G373D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065330	NM_003998.4(NFKB1):c.1753-1G>T	NFKB1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3061053	NM_003998.4(NFKB1):c.2301T>C (p.Asp767=)	NFKB1	Single nucleotide variant (synonymous variant)	NFKB1-related disorder	GLikely benign
Select item 3042484	NM_003998.4(NFKB1):c.2649C>G (p.Thr883=)	NFKB1	Single nucleotide variant (synonymous variant)	NFKB1-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021411	NM_003998.4(NFKB1):c.1746G>T (p.Leu582=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021278	NM_003998.4(NFKB1):c.1413G>A (p.Glu471=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015337	NM_003998.4(NFKB1):c.266A>G (p.Asn89Ser)	NFKB1 (N75S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009974	NM_003998.4(NFKB1):c.1494G>C (p.Gln498His)	NFKB1 (Q497H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009601	NM_003998.4(NFKB1):c.1737A>G (p.Arg579=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006549	NM_003998.4(NFKB1):c.670A>G (p.Ser224Gly)	NFKB1 (S223G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004435	NM_003998.4(NFKB1):c.880G>A (p.Val294Ile)	NFKB1 (V280I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001541	NM_003998.4(NFKB1):c.1471A>G (p.Lys491Glu)	NFKB1 (K477E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000796	NM_003998.4(NFKB1):c.714C>T (p.Asp238=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999205	NM_003998.4(NFKB1):c.2059C>T (p.Arg687Cys)	NFKB1 (R687C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998722	NM_003998.4(NFKB1):c.1946A>G (p.Asn649Ser)	NFKB1 (N648S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994170	NM_003998.4(NFKB1):c.928-9A>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993292	NM_003998.4(NFKB1):c.1428C>T (p.Thr476=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992299	NM_003998.4(NFKB1):c.2264A>G (p.Tyr755Cys)	NFKB1 (Y754C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988275	NM_003998.4(NFKB1):c.965T>C (p.Ile322Thr)	NFKB1 (I321T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986794	NM_003998.4(NFKB1):c.1885G>A (p.Asp629Asn)	NFKB1 (D615N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984625	NM_003998.4(NFKB1):c.240G>A (p.Lys80=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984565	NM_003998.4(NFKB1):c.327G>A (p.Leu109=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984306	NM_003998.4(NFKB1):c.118+19G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984039	NM_003998.4(NFKB1):c.1365T>C (p.Thr455=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983377	NM_003998.4(NFKB1):c.39A>G (p.Gln13=)	NFKB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2982649	NM_003998.4(NFKB1):c.1522C>G (p.Gln508Glu)	NFKB1 (Q494E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981442	NM_003998.4(NFKB1):c.39+8T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979478	NM_003998.4(NFKB1):c.2115G>A (p.Leu705=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978525	NM_003998.4(NFKB1):c.2649C>A (p.Thr883=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978284	NM_003998.4(NFKB1):c.1136G>A (p.Ser379Asn)	NFKB1 (S378N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978244	NM_003998.4(NFKB1):c.2765G>A (p.Ser922Asn)	NFKB1 (S921N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976703	NM_003998.4(NFKB1):c.2766T>G (p.Ser922Arg)	NFKB1 (S921R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972874	NM_003998.4(NFKB1):c.1153G>A (p.Gly385Ser)	NFKB1 (G371S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972786	NM_003998.4(NFKB1):c.2353-19G>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970085	NM_003998.4(NFKB1):c.269A>T (p.Tyr90Phe)	NFKB1 (Y76F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968645	NM_003998.4(NFKB1):c.1196G>A (p.Gly399Glu)	NFKB1 (G385E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967603	NM_003998.4(NFKB1):c.2019C>T (p.Ala673=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965472	NM_003998.4(NFKB1):c.1587G>A (p.Leu529=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960529	NM_003998.4(NFKB1):c.592C>T (p.Arg198Cys)	NFKB1 (R184C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958810	NM_003998.4(NFKB1):c.508C>T (p.Leu170Phe)	NFKB1 (L170F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958344	NM_003998.4(NFKB1):c.1203A>G (p.Thr401=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958030	NM_003998.4(NFKB1):c.2420-16T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956596	NM_003998.4(NFKB1):c.798G>A (p.Gly266=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912406	NM_003998.4(NFKB1):c.1214A>G (p.Tyr405Cys)	NFKB1 (Y404C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886040	NM_003998.4(NFKB1):c.47A>T (p.His16Leu)	NFKB1 (H3L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881128	NM_003998.4(NFKB1):c.943A>C (p.Lys315Gln)	NFKB1 (K315Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880401	NM_003998.4(NFKB1):c.2440G>A (p.Glu814Lys)	NFKB1 (E814K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879154	NM_003998.4(NFKB1):c.1420G>A (p.Glu474Lys)	NFKB1 (E474K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878233	NM_003998.4(NFKB1):c.2592+17C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872553	NM_003998.4(NFKB1):c.992T>G (p.Phe331Cys)	NFKB1 (F317C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871557	NM_003998.4(NFKB1):c.1753-10C>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870519	NM_003998.4(NFKB1):c.1600C>T (p.Arg534Cys)	NFKB1 (R534C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867436	NM_003998.4(NFKB1):c.22T>A (p.Leu8Met)	NFKB1 (L8M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866406	NM_003998.4(NFKB1):c.380del (p.Thr127fs)	NFKB1 (T127fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2854445	NM_003998.4(NFKB1):c.1685A>T (p.Asp562Val)	LOC126807127, NFKB1 (D548V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851009	NM_003998.4(NFKB1):c.779C>T (p.Ala260Val)	NFKB1 (A246V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847524	NM_003998.4(NFKB1):c.1406A>T (p.Asp469Val)	NFKB1 (D455V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847209	NM_003998.4(NFKB1):c.119-3del	NFKB1	Deletion (intron variant)	not provided	GBenign
Select item 2847139	NM_003998.4(NFKB1):c.2659G>T (p.Glu887Ter)	NFKB1 (E887* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2841907	NM_003998.4(NFKB1):c.1495+11A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841325	NM_003998.4(NFKB1):c.377dup (p.Thr127fs)	NFKB1 (T127fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2839176	NC_000004.12:g.102600894GT[1]	LOC126807127, NFKB1	Microsatellite (genic downstream transcript variant)	not provided	GPathogenic
Select item 2838840	NM_003998.4(NFKB1):c.2420-11A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837203	NM_003998.4(NFKB1):c.919C>G (p.His307Asp)	NFKB1 (H293D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837177	NM_003998.4(NFKB1):c.1301-11A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834849	NM_003998.4(NFKB1):c.1916A>T (p.Lys639Ile)	NFKB1 (K638I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832943	NM_003998.4(NFKB1):c.2294G>A (p.Gly765Glu)	NFKB1 (G751E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829921	NM_003998.4(NFKB1):c.641G>C (p.Arg214Pro)	NFKB1 (R200P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828873	NM_003998.4(NFKB1):c.258+17T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827689	NM_003998.4(NFKB1):c.1753-1G>C	NFKB1	Single nucleotide variant (splice acceptor variant)	Common variable immunodeficiency +1 more	GLikely pathogenic
Select item 2826065	NM_003998.4(NFKB1):c.1195G>A (p.Gly399Arg)	NFKB1 (G398R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824602	NM_003998.4(NFKB1):c.2121_2122delinsTT (p.Glu708Ter)	NFKB1 (E707* +2 more)	Indel (nonsense)	not provided	GPathogenic
Select item 2824110	NM_003998.4(NFKB1):c.205G>C (p.Gly69Arg)	NFKB1 (G68R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823657	NM_003998.4(NFKB1):c.2269C>G (p.Leu757Val)	NFKB1 (L756V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822014	NM_003998.4(NFKB1):c.731-18T>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820567	NM_003998.4(NFKB1):c.799G>A (p.Glu267Lys)	NFKB1 (E253K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817951	NM_003998.4(NFKB1):c.1028G>A (p.Ser343Asn)	NFKB1 (S343N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817471	NM_003998.4(NFKB1):c.2592+19G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817305	NM_003998.4(NFKB1):c.1294A>G (p.Lys432Glu)	NFKB1 (K418E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817011	NM_003998.4(NFKB1):c.570A>T (p.Gly190=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2816990	NM_003998.4(NFKB1):c.119-1G>C	NFKB1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2815952	NM_003998.4(NFKB1):c.1067-16C>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813668	NM_003998.4(NFKB1):c.1169G>A (p.Gly390Asp)	NFKB1 (G390D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813405	NM_003998.4(NFKB1):c.1679dup (p.Arg561fs)	LOC126807127, NFKB1 (R560fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2812155	NM_003998.4(NFKB1):c.2250C>T (p.Asn750=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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