ClinVar for MedGen (Select 906018) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3065330	NM_003998.4(NFKB1):c.1753-1G>T	NFKB1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 2689578	NM_003998.4(NFKB1):c.2394T>G (p.Phe798Leu)	NFKB1 (F784L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 2627526	NM_003998.4(NFKB1):c.2588A>G (p.Tyr863Cys)	NFKB1 (Y849C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 2585426	NM_003998.4(NFKB1):c.1870G>A (p.Ala624Thr)	NFKB1 (A610T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431615	NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)	NFKB1 (E345* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 2308562	NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)	NFKB1 (T926P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1803239	NM_003998.4(NFKB1):c.2353-1G>A	NFKB1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1703532	GRCh37/hg19 4q24(chr4:102851823-104641864)	SLC39A8, SLC9B1 +9 more	Copy number loss	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1702987	NM_003998.4(NFKB1):c.988G>A (p.Val330Met)	NFKB1 (V316M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1698926	NM_003998.4(NFKB1):c.2227+1G>A	NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1697314	NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del	NFKB1	Deletion	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1685980	NM_003998.4(NFKB1):c.407+2T>G	NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12	GPathogenic
Select item 1683613	NM_003998.4(NFKB1):c.2745A>G (p.Gln915=)	NFKB1	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 1639014	NM_003998.4(NFKB1):c.2227+18C>T	NFKB1	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 12 +1 more	GLikely benign
Select item 1599046	NM_003998.4(NFKB1):c.1736G>A (p.Arg579Lys)	NFKB1, LOC126807127 (R565K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1598007	NM_003998.4(NFKB1):c.1948G>A (p.Gly650Arg)	NFKB1 (G636R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1483335	NM_003998.4(NFKB1):c.2279C>G (p.Ser760Cys)	NFKB1 (S746C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1408733	NM_003998.4(NFKB1):c.1126G>A (p.Gly376Ser)	NFKB1 (G362S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1360863	NM_003998.4(NFKB1):c.731A>G (p.Lys244Arg)	NFKB1 (K244R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342355	NM_003998.4(NFKB1):c.482C>T (p.Ala161Val)	NFKB1 (A147V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GConflicting classifications of pathogenicity
Select item 1328476	NM_003998.4(NFKB1):c.1210+1G>A	NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12 +1 more	GConflicting classifications of pathogenicity
Select item 1328169	NM_003998.4(NFKB1):c.724G>C (p.Asp242His)	NFKB1 (D228H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1228617	NM_003998.4(NFKB1):c.2593-22C>G	NFKB1	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 12 +2 more	GBenign
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 1168266	NM_003998.4(NFKB1):c.1210+16T>C	NFKB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 1064682	NM_003998.4(NFKB1):c.1012del (p.Ser338fs)	NFKB1 (S324fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 12	GPathogenic
Select item 1064678	NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter)	NFKB1 (R157* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 1029787	NM_003998.4(NFKB1):c.671G>A (p.Ser224Asn)	NFKB1 (S210N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 1029786	NM_003998.4(NFKB1):c.2027C>T (p.Ala676Val)	NFKB1 (A676V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 1027409	NM_003998.4(NFKB1):c.418_427del (p.Leu140fs)	NFKB1 (L126fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 993341	NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=)	NFKB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 983472	NM_003998.4(NFKB1):c.2671del (p.Ala891fs)	NFKB1 (A877fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 982698	NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter)	NFKB1 (L162* +2 more)	Duplication (nonsense)	Immunodeficiency, common variable, 12	GPathogenic
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 973655	NM_139239.3(NFKBID):c.773C>T (p.Pro258Leu)	NFKBID (P258L +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 973654	NM_139239.3(NFKBID):c.506G>T (p.Arg169Leu)	NFKBID (R184L +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	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 827726	NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)	NFKB1 (R283* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 12 +3 more	GPathogenic/Likely pathogenic
Select item 827724	NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)	NFKB1 (H512fs +2 more)	Deletion (frameshift variant)	Inherited Immunodeficiency Diseases	GPathogenic
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 776004	NM_003998.4(NFKB1):c.2460G>C (p.Leu820=)	NFKB1	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 12 +1 more	GBenign
Select item 776003	NM_003998.4(NFKB1):c.1755G>A (p.Thr585=)	NFKB1	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 12 +1 more	GBenign
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 709895	NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe)	NFKB1 (L615F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 623199	NM_003998.4(NFKB1):c.1752+1G>A	LOC126807127, NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 623198	NM_003998.4(NFKB1):c.317dup (p.Asn106fs)	NFKB1 (N106fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 445400	NM_003998.4(NFKB1):c.1519A>G (p.Met507Val)	NFKB1 (M507V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GBenign/Likely benign
Select item 430907	NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	NFKB1 (S302fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 210058	NM_003998.4(NFKB1):c.465dup (p.Ala156fs)	NFKB1 (A155fs +1 more)	Duplication (frameshift variant)	Immunodeficiency, common variable, 12	GPathogenic
Select item 210057	NM_003998.4(NFKB1):c.835+2T>G	NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12	GPathogenic
Select item 210056	NM_003998.4(NFKB1):c.730+4A>G	NFKB1	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 12	GLikely pathogenic

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Links from MedGen

Items: 57