IKBKE[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2297443	NM_014002.4(IKBKE):c.52G>A (p.Gly18Arg)	IKBKE (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 720904	NM_014002.4(IKBKE):c.87+9C>A	IKBKE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639859	NM_014002.4(IKBKE):c.136C>T (p.Leu46=)	IKBKE	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3109009	NM_014002.4(IKBKE):c.137T>C (p.Leu46Pro)	IKBKE (L46P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2355575	NM_014002.4(IKBKE):c.139C>T (p.Arg47Trp)	IKBKE (R47W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511002	NM_014002.4(IKBKE):c.146G>A (p.Arg49His)	IKBKE (R49H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3109012	NM_014002.4(IKBKE):c.179G>A (p.Arg60Gln)	IKBKE (R60Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3109014	NM_014002.4(IKBKE):c.202G>A (p.Val68Ile)	IKBKE (V68I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2569239	NM_014002.4(IKBKE):c.227C>T (p.Thr76Met)	IKBKE (T76M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459395	NM_014002.4(IKBKE):c.382G>A (p.Glu128Lys)	IKBKE (E43K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109017	NM_014002.4(IKBKE):c.442G>C (p.Glu148Gln)	IKBKE (E148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109018	NM_014002.4(IKBKE):c.504G>T (p.Glu168Asp)	IKBKE (E168D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721003	NM_014002.4(IKBKE):c.516G>A (p.Ser172=)	IKBKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 987751	NM_014002.4(IKBKE):c.541-5G>A	IKBKE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2591821	NM_014002.4(IKBKE):c.574A>G (p.Lys192Glu)	IKBKE (K192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604145	NM_014002.4(IKBKE):c.577C>T (p.Pro193Ser)	IKBKE (P108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281125	NM_014002.4(IKBKE):c.590C>T (p.Ala197Val)	IKBKE (A112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287063	NM_014002.4(IKBKE):c.595G>A (p.Gly199Arg)	IKBKE (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769253	NM_014002.4(IKBKE):c.701+5G>A	IKBKE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639860	NM_014002.4(IKBKE):c.745G>A (p.Ala249Thr)	IKBKE (A164T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2318888	NM_014002.4(IKBKE):c.763G>A (p.Gly255Arg)	IKBKE (G170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109019	NM_014002.4(IKBKE):c.787C>T (p.Leu263Phe)	IKBKE (L178F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109020	NM_014002.4(IKBKE):c.903G>C (p.Glu301Asp)	IKBKE (E216D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789556	NM_014002.4(IKBKE):c.906C>T (p.Thr302=)	IKBKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2608828	NM_014002.4(IKBKE):c.1047C>A (p.His349Gln)	IKBKE (H349Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778242	NM_014002.4(IKBKE):c.1134C>G (p.Pro378=)	IKBKE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2293591	NM_014002.4(IKBKE):c.1237A>T (p.Asn413Tyr)	IKBKE (N413Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285708	NM_014002.4(IKBKE):c.1261G>T (p.Ala421Ser)	IKBKE (A336S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536479	NM_014002.4(IKBKE):c.1261G>A (p.Ala421Thr)	IKBKE (A336T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545461	NM_014002.4(IKBKE):c.1264G>A (p.Gly422Ser)	IKBKE (G337S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294518	NM_014002.4(IKBKE):c.1322G>A (p.Arg441Gln)	IKBKE (R441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309303	NM_014002.4(IKBKE):c.1345G>A (p.Val449Met)	IKBKE (V449M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109008	NM_014002.4(IKBKE):c.1358C>A (p.Thr453Lys)	IKBKE (T453K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523015	NM_014002.4(IKBKE):c.1367G>A (p.Arg456Gln)	IKBKE (R371Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109010	NM_014002.4(IKBKE):c.1407C>A (p.Ser469Arg)	IKBKE (S384R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109011	NM_014002.4(IKBKE):c.1472C>T (p.Ala491Val)	IKBKE (A491V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285707	NM_014002.4(IKBKE):c.1532A>C (p.Gln511Pro)	IKBKE (Q511P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285706	NM_014002.4(IKBKE):c.1541C>T (p.Thr514Met)	IKBKE (T429M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331848	NM_014002.4(IKBKE):c.1897A>G (p.Thr633Ala)	IKBKE, IKBKE-AS1 (T548A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109013	NM_014002.4(IKBKE):c.1919A>G (p.Glu640Gly)	IKBKE, IKBKE-AS1 (E555G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243653	NM_014002.4(IKBKE):c.1952A>G (p.His651Arg)	IKBKE, IKBKE-AS1 (H566R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624129	NM_014002.4(IKBKE):c.1953C>G (p.His651Gln)	IKBKE, IKBKE-AS1 (H651Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464290	NM_014002.4(IKBKE):c.1973C>T (p.Ala658Val)	IKBKE, IKBKE-AS1 (A573V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542682	NM_014002.4(IKBKE):c.1988C>T (p.Ala663Val)	IKBKE, IKBKE-AS1 (A578V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254757	NM_014002.4(IKBKE):c.2000C>G (p.Pro667Arg)	IKBKE, IKBKE-AS1 (P582R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109015	NM_014002.4(IKBKE):c.2099A>G (p.Asn700Ser)	IKBKE, IKBKE-AS1 (N615S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286992	NM_014002.4(IKBKE):c.2113G>C (p.Glu705Gln)	IKBKE, IKBKE-AS1 (E620Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565217	GRCh37/hg19 1q32.1(chr1:206539637-206661564)x1	IKBKE, SRGAP2	Copy number loss	not provided	GUncertain significance
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 66