"Ambry Genetics"[submitter] AND "NFKBIB"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2558777	NM_002503.5(NFKBIB):c.143C>T (p.Pro48Leu)	NFKBIB (P48L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361679	NM_002503.5(NFKBIB):c.242C>T (p.Ser81Leu)	NFKBIB (S81L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3197914	NM_002503.5(NFKBIB):c.448C>T (p.Arg150Cys)	NFKBIB (R64C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469623	NM_002503.5(NFKBIB):c.449G>A (p.Arg150His)	NFKBIB (R150H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322594	NM_002503.5(NFKBIB):c.472C>T (p.Pro158Ser)	NFKBIB (P158S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2375149	NM_002503.5(NFKBIB):c.475G>A (p.Asp159Asn)	NFKBIB (D73N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2392863	NM_002503.5(NFKBIB):c.476A>C (p.Asp159Ala)	NFKBIB (D159A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227646	NM_002503.5(NFKBIB):c.499G>A (p.Asp167Asn)	NFKBIB (D167N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370790	NM_002503.5(NFKBIB):c.503G>A (p.Arg168His)	NFKBIB (R168H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2377949	NM_002503.5(NFKBIB):c.604G>A (p.Ala202Thr)	NFKBIB (A116T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197931	NM_002503.5(NFKBIB):c.637G>A (p.Val213Met)	NFKBIB (V127M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292561	NM_002503.5(NFKBIB):c.868G>A (p.Ala290Thr)	NFKBIB (A198T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220161	NM_002503.5(NFKBIB):c.871C>T (p.Arg291Cys)	NFKBIB (R205C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281250	NM_002503.5(NFKBIB):c.925G>A (p.Gly309Ser)	NFKBIB (G223S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396266	NM_002503.5(NFKBIB):c.970G>A (p.Asp324Asn)	NFKBIB (D324N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330451	NM_002503.5(NFKBIB):c.979G>A (p.Asp327Asn)	NFKBIB (D235N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302700	NM_002503.5(NFKBIB):c.1003C>T (p.Arg335Cys)	NFKBIB (R335C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246937	NM_002503.5(NFKBIB):c.1007G>A (p.Ser336Asn)	NFKBIB (S244N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3197905	NM_002503.5(NFKBIB):c.1060C>T (p.Arg354Cys)	NFKBIB (R268C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance