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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322147	NM_001556.3(IKBKB):c.8G>T (p.Trp3Leu)	IKBKB (W3L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 579568	NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu)	IKBKB (D174E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1370292	NM_001556.3(IKBKB):c.675C>G (p.Asn225Lys)	IKBKB (N166K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2334815	NM_001556.3(IKBKB):c.809C>G (p.Ala270Gly)	IKBKB (A206G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 568054	NM_001556.3(IKBKB):c.938A>G (p.His313Arg)	IKBKB (H313R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GUncertain significance
Select item 2044219	NM_001556.3(IKBKB):c.1090G>A (p.Asp364Asn)	IKBKB (D364N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2376651	NM_001556.3(IKBKB):c.1214C>T (p.Pro405Leu)	IKBKB (P346L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 934210	NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr)	IKBKB (A390T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2225339	NM_001556.3(IKBKB):c.1472A>G (p.Gln491Arg)	IKBKB (Q427R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2046341	NM_001556.3(IKBKB):c.1675A>G (p.Thr559Ala)	IKBKB (T559A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 839133	NM_001556.3(IKBKB):c.1819G>A (p.Val607Met)	IKBKB (V548M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1505808	NM_001556.3(IKBKB):c.2104G>A (p.Ala702Thr)	IKBKB (A702T +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GUncertain significance
Select item 2485562	NM_001556.3(IKBKB):c.2167A>G (p.Ile723Val)	IKBKB (I659V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380673	NM_001556.3(IKBKB):c.2185G>C (p.Glu729Gln)	IKBKB (E670Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1109884	NM_001556.3(IKBKB):c.2202C>G (p.Phe734Leu)	IKBKB (F670L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GLikely benign