"GeneDx"[submitter] AND "IKBKB"[gene] - ClinVar

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Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 1245244	NM_001556.3(IKBKB):c.-64C>T	IKBKB, LOC130000299	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1266286	NM_001556.3(IKBKB):c.-18-96A>T	IKBKB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1297844	NM_001556.3(IKBKB):c.106-231del	IKBKB	Deletion (intron variant)	not provided	GBenign
Select item 1290387	NM_001556.3(IKBKB):c.318+103G>A	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225522	NM_001556.3(IKBKB):c.318+258G>A	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263528	NM_001556.3(IKBKB):c.478-192G>A	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422583	NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg)	IKBKB (K171R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1265193	NM_001556.3(IKBKB):c.568-326C>G	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1396721	NM_001556.3(IKBKB):c.788A>G (p.Asn263Ser)	IKBKB (N204S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GUncertain significance
Select item 1247956	NM_001556.3(IKBKB):c.800+70C>G	IKBKB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1246494	NM_001556.3(IKBKB):c.801-287del	IKBKB	Deletion (intron variant)	not provided	GBenign
Select item 1253703	NM_001556.3(IKBKB):c.801-281_801-280insC	IKBKB	Insertion (intron variant)	not provided	GBenign
Select item 957808	NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter)	IKBKB (R227* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GPathogenic
Select item 1699585	NM_001556.3(IKBKB):c.1223A>C (p.Glu408Ala)	IKBKB (E344A +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GUncertain significance
Select item 402969	NM_001556.3(IKBKB):c.1240+14A>T	IKBKB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1259405	NM_001556.3(IKBKB):c.1241-269G>A	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251387	NM_001556.3(IKBKB):c.1579-152C>T	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276757	NM_001556.3(IKBKB):c.1579-122G>C	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 638981	NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met)	IKBKB (T559M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1250784	NM_001556.3(IKBKB):c.2114+319C>A	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182297	NM_001556.3(IKBKB):c.2115-151G>A	IKBKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235904	NM_001556.3(IKBKB):c.2115-63T>C	IKBKB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1279471	NM_001556.3(IKBKB):c.*53A>G	IKBKB	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign

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Items: 29