NFKB1[gene] - ClinVar - NCBI

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	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 1675952	NM_003998.4(NFKB1):c.-8+9145A>G	NFKB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2576041	NM_003998.4(NFKB1):c.1A>G (p.Met1Val)	NFKB1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1991942	NM_003998.4(NFKB1):c.19T>C (p.Tyr7His)	NFKB1 (Y7H)	Single nucleotide variant (missense variant +1 more)	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 1599415	NM_003998.4(NFKB1):c.24G>A (p.Leu8=)	NFKB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 763974	NM_003998.4(NFKB1):c.33T>C (p.Pro11=)	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 1152349	NM_003998.4(NFKB1):c.39+7G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981442	NM_003998.4(NFKB1):c.39+8T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170447	NM_003998.4(NFKB1):c.39+17C>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1936631	NM_003998.4(NFKB1):c.40-15T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666007	NM_003998.4(NFKB1):c.40-13T>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093255	NM_003998.4(NFKB1):c.40-10T>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953914	NM_003998.4(NFKB1):c.40-5T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030990	NM_003998.4(NFKB1):c.40-2A>G	NFKB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2240034	NM_003998.4(NFKB1):c.40A>T (p.Met14Leu)	NFKB1 (M14L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 1718644	NM_003998.4(NFKB1):c.49T>G (p.Leu17Val)	NFKB1 (L17V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164671	NM_003998.4(NFKB1):c.51G>A (p.Leu17=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2114375	NM_003998.4(NFKB1):c.64A>G (p.Thr22Ala)	NFKB1 (T9A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2020844	NM_003998.4(NFKB1):c.67C>G (p.His23Asp)	NFKB1 (H10D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177573	NM_003998.4(NFKB1):c.68A>G (p.His23Arg)	NFKB1 (H10R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1464149	NM_003998.4(NFKB1):c.82C>A (p.Pro28Thr)	NFKB1 (P15T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958631	NM_003998.4(NFKB1):c.88G>A (p.Val30Ile)	NFKB1 (V17I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386528	NM_003998.4(NFKB1):c.104T>C (p.Met35Thr)	NFKB1 (M22T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235788	NM_003998.4(NFKB1):c.106G>C (p.Ala36Pro)	NFKB1 (A23P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1976839	NM_003998.4(NFKB1):c.106G>A (p.Ala36Thr)	NFKB1 (A23T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433221	NM_003998.4(NFKB1):c.115A>G (p.Thr39Ala)	NFKB1 (T26A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540873	NM_003998.4(NFKB1):c.118+18T>A	NFKB1	Single nucleotide variant (intron 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 2847209	NM_003998.4(NFKB1):c.119-3del	NFKB1	Deletion (intron variant)	not provided	GBenign
Select item 2034297	NM_003998.4(NFKB1):c.119-4T>A	NFKB1	Single nucleotide variant (intron 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 2042890	NM_003998.4(NFKB1):c.122A>G (p.Asp41Gly)	NFKB1 (D40G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635285	NM_003998.4(NFKB1):c.128dup (p.Tyr44fs)	NFKB1 (Y30fs +2 more)	Duplication (frameshift variant)	NFKB1-related disorder	GLikely pathogenic
Select item 1064676	NM_003998.4(NFKB1):c.139del (p.Ile47fs)	NFKB1 (I33fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 12	GPathogenic
Select item 1532515	NM_003998.4(NFKB1):c.153T>C (p.Pro51=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529221	NM_003998.4(NFKB1):c.153T>A (p.Pro51=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976031	NM_003998.4(NFKB1):c.159+1G>A	NFKB1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1362586	NM_003998.4(NFKB1):c.159+14G>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2119636	NM_003998.4(NFKB1):c.159+15G>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1601309	NM_003998.4(NFKB1):c.160-15C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640407	NM_003998.4(NFKB1):c.160-14G>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1563128	NM_003998.4(NFKB1):c.160-9C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 827725	NM_003998.4(NFKB1):c.160-1G>A	NFKB1	Single nucleotide variant (splice acceptor variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 1058857	NM_003998.4(NFKB1):c.169C>T (p.Arg57Cys)	NFKB1 (R43C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534812	NM_003998.4(NFKB1):c.180T>C (p.Tyr60=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 827728	NM_003998.4(NFKB1):c.187del (p.Glu63fs)	NFKB1 (E62fs +1 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 2128113	NM_003998.4(NFKB1):c.188A>G (p.Glu63Gly)	NFKB1 (E62G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609505	NM_003998.4(NFKB1):c.195A>G (p.Pro65=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779111	NM_003998.4(NFKB1):c.198C>A (p.Ser66=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203555	NM_003998.4(NFKB1):c.200A>G (p.His67Arg)	NFKB1 (H66R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2234106	NM_003998.4(NFKB1):c.202G>C (p.Gly68Arg)	NFKB1 (G54R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1353014	NM_003998.4(NFKB1):c.202G>A (p.Gly68Ser)	NFKB1 (G54S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1073467	NM_003998.4(NFKB1):c.208_209insA (p.Leu70fs)	NFKB1 (L56fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1319140	NM_003998.4(NFKB1):c.215G>A (p.Gly72Asp)	NFKB1 (G58D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636444	NM_003998.4(NFKB1):c.215G>T (p.Gly72Val)	NFKB1 (G72V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435487	NM_003998.4(NFKB1):c.217G>T (p.Ala73Ser)	NFKB1 (A72S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733885	NM_003998.4(NFKB1):c.219C>T (p.Ala73=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118928	NM_003998.4(NFKB1):c.220T>A (p.Ser74Thr)	NFKB1 (S73T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113833	NM_003998.4(NFKB1):c.225T>A (p.Ser75Arg)	NFKB1 (S74R +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 2087301	NM_003998.4(NFKB1):c.246C>A (p.Tyr82Ter)	NFKB1 (Y68* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1617285	NM_003998.4(NFKB1):c.249T>C (p.Pro83=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047131	NM_003998.4(NFKB1):c.258+1G>C	NFKB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1176480	NM_003998.4(NFKB1):c.258+2T>C	NFKB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2052895	NM_003998.4(NFKB1):c.258+12G>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828873	NM_003998.4(NFKB1):c.258+17T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693716	NM_003998.4(NFKB1):c.258+18C>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268082	NM_003998.4(NFKB1):c.259-162A>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1553173	NM_003998.4(NFKB1):c.259-17A>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599209	NM_003998.4(NFKB1):c.259-15G>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599210	NM_003998.4(NFKB1):c.259-13G>T	NFKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2794592	NM_003998.4(NFKB1):c.259-11T>A	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792447	NM_003998.4(NFKB1):c.259-9C>G	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594931	NM_003998.4(NFKB1):c.259-5T>C	NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2633323	NM_003998.4(NFKB1):c.259-1G>C	NFKB1	Single nucleotide variant (splice acceptor variant)	NFKB1-related disorder	GLikely pathogenic
Select item 827719	NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser)	NFKB1 (I87S +1 more)	Single nucleotide variant (missense variant)	Common variable immunodeficiency	GPathogenic
Select item 754646	NM_003998.4(NFKB1):c.261C>A (p.Ile87=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2505516	NM_003998.4(NFKB1):c.263G>T (p.Cys88Phe)	NFKB1 (C74F +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
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 2129437	NM_003998.4(NFKB1):c.269_270del (p.Tyr90fs)	NFKB1 (Y76fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2128032	NM_003998.4(NFKB1):c.269A>G (p.Tyr90Cys)	NFKB1 (Y90C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498962	NM_003998.4(NFKB1):c.275G>T (p.Gly92Val)	NFKB1 (G78V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598581	NM_003998.4(NFKB1):c.285G>A (p.Lys95=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 827720	NM_003998.4(NFKB1):c.293T>A (p.Val98Asp)	NFKB1 (V97D +1 more)	Single nucleotide variant (missense variant)	Common variable immunodeficiency	GPathogenic
Select item 827729	NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter)	NFKB1 (Q99* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2083709	NM_003998.4(NFKB1):c.308del (p.Asn103fs)	NFKB1 (N103fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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

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