3551[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 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 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	LOC130000285, LOC130000286 +122 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 153159	GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1	CHRNA6, CHRNB3 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 3039446	NM_001556.3(IKBKB):c.-107G>C	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GLikely benign
Select item 2658582	NM_001556.3(IKBKB):c.-106G>A	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 3039508	NM_001556.3(IKBKB):c.-58C>G	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GLikely benign
Select item 3047209	NM_001556.3(IKBKB):c.-40T>A	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GLikely benign
Select item 3042121	NM_001556.3(IKBKB):c.-40T>C	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GBenign
Select item 3030446	NM_001556.3(IKBKB):c.-24C>G	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GUncertain significance
Select item 3037325	NM_001556.3(IKBKB):c.-19+8C>T	IKBKB, LOC130000299	Single nucleotide variant (intron variant)	not provided	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 1285005	NM_001556.3(IKBKB):c.-18-4A>G	IKBKB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2632828	NM_001556.3(IKBKB):c.11C>A (p.Ser4Ter)	IKBKB (S4*)	Single nucleotide variant (5 prime UTR variant +3 more)	IKBKB-related disorder	GLikely pathogenic
Select item 2772974	NM_001556.3(IKBKB):c.13C>A (p.Pro5Thr)	IKBKB (P5T)	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 1349650	NM_001556.3(IKBKB):c.14C>T (p.Pro5Leu)	IKBKB (P5L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +2 more	GUncertain significance
Select item 1453689	NM_001556.3(IKBKB):c.25del (p.Thr9fs)	IKBKB (T9fs)	Deletion (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GPathogenic
Select item 2989149	NM_001556.3(IKBKB):c.27G>A (p.Thr9=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1429411	NM_001556.3(IKBKB):c.32C>T (p.Thr11Ile)	IKBKB (T11I)	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2171286	NM_001556.3(IKBKB):c.38G>A (p.Gly13Glu)	IKBKB (G13E)	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2715811	NM_001556.3(IKBKB):c.42C>T (p.Ala14=)	IKBKB	Single nucleotide variant (non-coding transcript variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2908527	NM_001556.3(IKBKB):c.72G>C (p.Gly24=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2704488	NM_001556.3(IKBKB):c.81A>T (p.Gly27=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1004890	NM_001556.3(IKBKB):c.90C>G (p.Ile30Met)	IKBKB (I30M +1 more)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2740419	NM_001556.3(IKBKB):c.93A>G (p.Arg31=)	IKBKB (D4G)	Single nucleotide variant (missense variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1938026	NM_001556.3(IKBKB):c.105+8C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2785877	NM_001556.3(IKBKB):c.105+10C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2846206	NM_001556.3(IKBKB):c.105+18del	IKBKB	Deletion (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2787519	NM_001556.3(IKBKB):c.105+18C>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3017412	NM_001556.3(IKBKB):c.105+19T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1297844	NM_001556.3(IKBKB):c.106-231del	IKBKB	Deletion (intron variant)	not provided	GBenign
Select item 2962994	NM_001556.3(IKBKB):c.106-16T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1085047	NM_001556.3(IKBKB):c.106-15G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2727538	NM_001556.3(IKBKB):c.106-7T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3001609	NM_001556.3(IKBKB):c.106-4G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1136221	NM_001556.3(IKBKB):c.106-4G>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 959835	NM_001556.3(IKBKB):c.106-3T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 1157496	NM_001556.3(IKBKB):c.111A>G (p.Thr37=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2771284	NM_001556.3(IKBKB):c.126C>T (p.Ala42=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2432838	NM_001556.3(IKBKB):c.139C>T (p.Arg47Trp)	IKBKB (R47W)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2078248	NM_001556.3(IKBKB):c.147G>A (p.Glu49=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2818009	NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys)	IKBKB (N54K)	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 1357742	NM_001556.3(IKBKB):c.163C>T (p.Arg55Ter)	IKBKB (R55*)	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GPathogenic
Select item 1577868	NM_001556.3(IKBKB):c.165A>G (p.Arg55=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2761457	NM_001556.3(IKBKB):c.177C>T (p.Cys59=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2772899	NM_001556.3(IKBKB):c.178C>T (p.Leu60=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2771387	NM_001556.3(IKBKB):c.200+7G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1130339	NM_001556.3(IKBKB):c.200+8C>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2843122	NM_001556.3(IKBKB):c.200+11C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2910824	NM_001556.3(IKBKB):c.200+12G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1609913	NM_001556.3(IKBKB):c.200+12G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2068021	NM_001556.3(IKBKB):c.200+13C>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1588401	NM_001556.3(IKBKB):c.200+13C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2997711	NM_001556.3(IKBKB):c.200+14G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1661124	NM_001556.3(IKBKB):c.200+14G>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1607705	NM_001556.3(IKBKB):c.200+14G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GBenign
Select item 2985425	NM_001556.3(IKBKB):c.200+15C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1022094	NM_001556.3(IKBKB):c.200+16A>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2788797	NM_001556.3(IKBKB):c.200+18A>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1108251	NM_001556.3(IKBKB):c.200+19G>C	IKBKB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2165824	NM_001556.3(IKBKB):c.201-20A>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1924641	NM_001556.3(IKBKB):c.201-18C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1541427	NM_001556.3(IKBKB):c.201-17G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2849538	NM_001556.3(IKBKB):c.201-11C>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2878603	NM_001556.3(IKBKB):c.201-7C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2834489	NM_001556.3(IKBKB):c.201-6T>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2850303	NM_001556.3(IKBKB):c.203T>G (p.Leu68Arg)	IKBKB (L4R +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2874376	NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu)	IKBKB (P12L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2003764	NM_001556.3(IKBKB):c.213C>G (p.Pro71=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1021812	NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser)	IKBKB (N13S +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 3109004	NM_001556.3(IKBKB):c.217G>A (p.Val73Met)	IKBKB (V9M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 663077	NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln)	IKBKB (R18Q +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 1556026	NM_001556.3(IKBKB):c.246G>A (p.Gly82=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 765951	NM_001556.3(IKBKB):c.247A>G (p.Met83Val)	IKBKB (M24V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2702284	NM_001556.3(IKBKB):c.261G>T (p.Ala87=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 1087109	NM_001556.3(IKBKB):c.261G>A (p.Ala87=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency +1 more	GLikely benign
Select item 2734600	NM_001556.3(IKBKB):c.264C>T (p.Pro88=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign

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