"GeneDx"[submitter] AND "NFKB1"[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1307278	NM_003998.4(NFKB1):c.65C>G (p.Thr22Ser)	NFKB1 (T22S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274917	NM_003998.4(NFKB1):c.159+305C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290273	NM_003998.4(NFKB1):c.160-190A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242261	NM_003998.4(NFKB1):c.160-138G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575659	NM_003998.4(NFKB1):c.181G>A (p.Val61Ile)	NFKB1 (V47I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268082	NM_003998.4(NFKB1):c.259-162A>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2028923	NM_003998.4(NFKB1):c.376_377del (p.Val126fs)	NFKB1 (V126fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1244754	NM_003998.4(NFKB1):c.407+199G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225045	NM_003998.4(NFKB1):c.408-248G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272781	NM_003998.4(NFKB1):c.408-158A>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244442	NM_003998.4(NFKB1):c.571+259T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424608	NM_003998.4(NFKB1):c.586C>G (p.Leu196Val)	NFKB1 (L196V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196143	NM_003998.4(NFKB1):c.634G>A (p.Val212Met)	NFKB1 (V211M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451554	NM_003998.4(NFKB1):c.692G>A (p.Arg231His)	NFKB1 (R231H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450428	NM_003998.4(NFKB1):c.702del (p.Val235fs)	NFKB1 (V235fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1305053	NM_003998.4(NFKB1):c.703G>A (p.Val235Met)	NFKB1 (V221M +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 373395	NM_003998.4(NFKB1):c.794G>A (p.Gly265Glu)	NFKB1 (G265E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 450272	NM_003998.4(NFKB1):c.835+1G>A	NFKB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1265871	NM_003998.4(NFKB1):c.836-199G>C	NFKB1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 373410	NM_003998.4(NFKB1):c.862G>A (p.Glu288Lys)	NFKB1 (E288K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452593	NM_003998.4(NFKB1):c.895G>A (p.Gly299Arg)	NFKB1 (G299R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312279	NM_003998.4(NFKB1):c.923G>A (p.Arg308Lys)	NFKB1 (R294K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251177	NM_003998.4(NFKB1):c.927+191C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249028	NM_003998.4(NFKB1):c.1066+118A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240900	NM_003998.4(NFKB1):c.1066+1726G>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272513	NM_003998.4(NFKB1):c.1067-137C>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817383	NM_003998.4(NFKB1):c.1071_1074del (p.Glu358fs)	NFKB1 (E358fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1311122	NM_003998.4(NFKB1):c.1128_1129insCGA (p.Gly376_Gly377insArg)	NFKB1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1170076	NM_003998.4(NFKB1):c.1143T>C (p.Ala381=)	NFKB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1168687	NM_003998.4(NFKB1):c.1210+12C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168266	NM_003998.4(NFKB1):c.1210+16T>C	NFKB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1226742	NM_003998.4(NFKB1):c.1210+268A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710705	NM_003998.4(NFKB1):c.1330_1337delinsTT (p.Pro444_Gly446delinsPhe)	NFKB1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1704798	NM_003998.4(NFKB1):c.1384G>C (p.Val462Leu)	NFKB1 (V448L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244688	NM_003998.4(NFKB1):c.1496-372A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270378	NM_003998.4(NFKB1):c.1496-198C>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306765	NM_003998.4(NFKB1):c.1544A>G (p.Asn515Ser)	NFKB1 (N501S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230905	NM_003998.4(NFKB1):c.1752+336_1752+339del	LOC126807127, NFKB1	Deletion (intron variant)	not provided	GBenign
Select item 1307329	NM_003998.4(NFKB1):c.1829G>A (p.Ser610Asn)	NFKB1 (S596N +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 1289420	NM_003998.4(NFKB1):c.1954+22T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327360	NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val)	NFKB1 (A645V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GUncertain significance
Select item 452633	NM_003998.4(NFKB1):c.2083G>T (p.Glu695Ter)	NFKB1 (E695* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2442479	NM_003998.4(NFKB1):c.2381A>G (p.Tyr794Cys)	NFKB1 (Y780C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707001	NM_003998.4(NFKB1):c.2510C>T (p.Ala837Val)	NFKB1 (A823V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183111	NM_003998.4(NFKB1):c.2569A>G (p.Lys857Glu)	NFKB1 (K857E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256826	NM_003998.4(NFKB1):c.2592+58T>A	NFKB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1287389	NM_003998.4(NFKB1):c.2593-25C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228617	NM_003998.4(NFKB1):c.2593-22C>G	NFKB1	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 12 +2 more	GBenign
Select item 432311	NM_003998.4(NFKB1):c.2602_2603dup (p.Thr869fs)	NFKB1 (T869fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1225916	NM_003998.4(NFKB1):c.2750-149C>T	NFKB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3370757	NM_003998.4(NFKB1):c.2755C>T (p.Leu919Phe)	NFKB1 (L905F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3252404	NM_003998.4(NFKB1):c.2820del (p.Glu941fs)	NFKB1 (E927fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1219100	NM_003998.4(NFKB1):c.2890C>T (p.Pro964Ser)	NFKB1 (P950S +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

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Items: 58