"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NFKB1"[gen - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675952	NM_003998.4(NFKB1):c.-8+9145A>G	NFKB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1350326	NM_003998.4(NFKB1):c.41T>C (p.Met14Thr)	NFKB1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2281313	NM_003998.4(NFKB1):c.56C>T (p.Pro19Leu)	NFKB1 (P19L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2654980	NM_003998.4(NFKB1):c.73A>G (p.Ile25Val)	NFKB1 (I12V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176480	NM_003998.4(NFKB1):c.258+2T>C	NFKB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 754646	NM_003998.4(NFKB1):c.261C>A (p.Ile87=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809642	NM_003998.4(NFKB1):c.307A>G (p.Asn103Asp)	NFKB1 (N103D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026562	NM_003998.4(NFKB1):c.322C>T (p.His108Tyr)	NFKB1 (H107Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809643	NM_003998.4(NFKB1):c.406G>A (p.Gly136Ser)	NFKB1 (G135S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871105	NM_003998.4(NFKB1):c.407+1G>A	NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12 +1 more	GPathogenic/Likely pathogenic
Select item 1367916	NM_003998.4(NFKB1):c.560G>A (p.Arg187Gln)	NFKB1 (R186Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298965	NM_003998.4(NFKB1):c.584_585del (p.Glu195fs)	NFKB1 (E181fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 809644	NM_003998.4(NFKB1):c.589del (p.Ile197fs)	NFKB1 (I197fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 451554	NM_003998.4(NFKB1):c.692G>A (p.Arg231His)	NFKB1 (R231H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 748984	NM_003998.4(NFKB1):c.723T>C (p.Tyr241=)	NFKB1	Single nucleotide variant (synonymous variant)	NFKB1-related condition +1 more	GLikely benign
Select item 809645	NM_003998.4(NFKB1):c.734C>T (p.Ala245Val)	NFKB1 (A245V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624017	NM_003998.4(NFKB1):c.856T>A (p.Tyr286Asn)	NFKB1 (Y286N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335560	NM_003998.4(NFKB1):c.878G>A (p.Gly293Glu)	NFKB1 (G279E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168185	NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln)	NFKB1 (R321Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GConflicting classifications of pathogenicity
Select item 2522325	NM_003998.4(NFKB1):c.1099C>T (p.Leu367Phe)	NFKB1 (L367F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1552693	NM_003998.4(NFKB1):c.1155C>T (p.Gly385=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 1328476	NM_003998.4(NFKB1):c.1210+1G>A	NFKB1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 809646	NM_003998.4(NFKB1):c.1211-7G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 809647	NM_003998.4(NFKB1):c.1332T>C (p.Pro444=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624018	NM_003998.4(NFKB1):c.1361dup (p.Asn454fs)	NFKB1 (N454fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1159128	NM_003998.4(NFKB1):c.1388T>C (p.Ile463Thr)	NFKB1 (I449T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 809648	NM_003998.4(NFKB1):c.1400_1401dup (p.Gln468fs)	NFKB1 (Q468fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 787032	NM_003998.4(NFKB1):c.1429G>T (p.Val477Phe)	NFKB1 (V476F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 790005	NM_003998.4(NFKB1):c.1469C>T (p.Thr490Ile)	NFKB1 (T489I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654981	NM_003998.4(NFKB1):c.1473AGA[1] (p.Glu493del)	NFKB1 (E479del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 774175	NM_003998.4(NFKB1):c.1601G>A (p.Arg534His)	NFKB1 (R533H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1012500	NM_003998.4(NFKB1):c.1644A>G (p.Leu548=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599046	NM_003998.4(NFKB1):c.1736G>A (p.Arg579Lys)	LOC126807127, NFKB1 (R565K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GConflicting classifications of pathogenicity
Select item 546965	NM_003998.4(NFKB1):c.1743T>C (p.Asp581=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167790	NM_003998.4(NFKB1):c.1799A>C (p.Glu600Ala)	NFKB1 (E586A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1176030	NM_003998.4(NFKB1):c.1819del (p.Ala607fs)	NFKB1 (A593fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 709895	NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe)	NFKB1 (L615F +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GBenign/Likely benign
Select item 1598007	NM_003998.4(NFKB1):c.1948G>A (p.Gly650Arg)	NFKB1 (G636R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GConflicting classifications of pathogenicity
Select item 2654982	NM_003998.4(NFKB1):c.2119C>T (p.Leu707=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741819	NM_003998.4(NFKB1):c.2232A>G (p.Ala744=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 809649	NM_003998.4(NFKB1):c.2455C>T (p.Gln819Ter)	NFKB1 (Q818* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 871106	NM_003998.4(NFKB1):c.2537A>G (p.Asn846Ser)	NFKB1 (N845S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 624019	NM_003998.4(NFKB1):c.2548C>T (p.Arg850Trp)	NFKB1 (R850W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012501	NM_003998.4(NFKB1):c.2549G>A (p.Arg850Gln)	NFKB1 (R836Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713591	NM_003998.4(NFKB1):c.2593-4A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 871107	NM_003998.4(NFKB1):c.2634A>T (p.Arg878Ser)	NFKB1 (R877S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809650	NM_003998.4(NFKB1):c.2679C>T (p.Ser893=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176031	NM_003998.4(NFKB1):c.2759G>A (p.Arg920Gln)	NFKB1 (R906Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654983	NM_003998.4(NFKB1):c.2828T>C (p.Leu943Pro)	NFKB1 (L929P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495139	NM_003998.4(NFKB1):c.2831C>A (p.Thr944Asn)	NFKB1 (T930N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1695119	GRCh37/hg19 4q24(chr4:102942671-103682051)x1	BANK1, MANBA +2 more	Copy number loss	not provided	GPathogenic

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Items: 54