NFKBIB[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2558777	NM_002503.5(NFKBIB):c.143C>T (p.Pro48Leu)	NFKBIB (P48L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2649825	NM_002503.5(NFKBIB):c.708G>A (p.Pro236=)	NFKBIB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2292561	NM_002503.5(NFKBIB):c.868G>A (p.Ala290Thr)	NFKBIB (A198T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ZFP36, ZNF546 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	RINL, RYR1 +34 more	Duplication	RYR1-Related Disorders	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 27