ClinVar for Gene (Select 149013) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242445	GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3	ACP6, BCL9 +62 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3063188	GRCh37/hg19 1q21.1-21.2(chr1:146106723-147844758)x3	ACP6, BCL9 +7 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062888	GRCh37/hg19 1q21.1-21.2(chr1:146112080-147806677)x3	ACP6, BCL9 +7 more	Copy number gain	not specified	GPathogenic
Select item 3062866	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)x1	ACP6, BCL9 +8 more	Copy number loss	not specified	GPathogenic
Select item 3062811	GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1	ACP6, BCL9 +7 more	Copy number loss	not specified	GPathogenic
Select item 3062644	GRCh37/hg19 1q21.1-21.2(chr1:146023922-147831170)x3	ACP6, BCL9 +8 more	Copy number gain	not specified	GPathogenic
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685825	GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3	ACP6, BCL9 +8 more	Copy number gain	not provided	GPathogenic
Select item 2685643	GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1	ACP6, BCL9 +10 more	Copy number loss	not provided	GPathogenic
Select item 2685599	GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 2665054	GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641)	ACP6, BCL9 +59 more	Copy number loss	1q21.1 microdeletion syndrome (BP3-BP4, distal)	GPathogenic
Select item 2639119	Single allele	NBPF12	Single nucleotide variant	not provided	GLikely benign
Select item 2639118	Single allele	NBPF12	Single nucleotide variant	not provided	GLikely benign
Select item 2639117	Single allele	NBPF12	Single nucleotide variant	not provided	GLikely benign
Select item 2580347	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580307	GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1	ACP6, BCL9 +8 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2578608	GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 2506525	GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212)	BCL9, ACP6 +7 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2498453	GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1	ACP6, BCL9 +7 more	Copy number loss	not provided	GPathogenic
Select item 2445223	Single allele	ACP6, BCL9 +9 more	Duplication	See cases	GPathogenic
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ANKRD35, BCL9 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1808730	GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808713	GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 1808631	GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 1708199	GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1	ACP6, ANKRD34A +26 more	Copy number loss	See cases	GPathogenic
Select item 1708187	GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1	PRKAB2, NBPF12 +7 more	Copy number loss	See cases	GPathogenic
Select item 1703635	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)	BCL9, ACP6 +8 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1703634	GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294)	ACP6, BCL9 +9 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1703633	GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154)	ACP6, BCL9 +9 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1703632	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703631	GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703630	GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000)	ACP6, BCL9 +7 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 1703529	GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265)	ACP6, BCL9 +9 more	Copy number gain	Hypoplastic left heart syndrome 1	GPathogenic
Select item 1340506	GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1	TRN-GTT2-7, NBPF11 +10 more	Copy number loss	not provided	GPathogenic
Select item 1330159	GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3	ACP6, BCL9 +8 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 997084	GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266)	PPIAL4D, PPIAL4E +15 more	Copy number gain	Delayed speech and language development	GPathogenic
Select item 997061	GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207)	ACP6, GPR89B +9 more	Copy number gain	Mayer-Rokitansky-Kuster-Hauser syndrome	GPathogenic
Select item 980948	GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3	ACP6, ANKRD34A +27 more	Copy number gain	not provided	GPathogenic
Select item 980947	GRCh37/hg19 1q21.1-21.2(chr1:146096700-147929323)x1	ACP6, BCL9 +7 more	Copy number loss	not provided	GPathogenic
Select item 980945	GRCh37/hg19 1q21.1-21.2(chr1:146112080-147399145)x3	ACP6, BCL9 +6 more	Copy number gain	not provided	GPathogenic
Select item 980944	GRCh37/hg19 1q21.1-21.2(chr1:146112080-147819815)x3	BCL9, ACP6 +7 more	Copy number gain	not provided	GPathogenic
Select item 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814123	GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3	ACP6, ANKRD34A +32 more	Copy number gain	not provided	GPathogenic
Select item 814122	GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 814121	GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1	ACP6, ANKRD34A +27 more	Copy number loss	not provided	GPathogenic
Select item 814120	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 688523	GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4	ACP6, ANKRD34A +31 more	Copy number gain	not provided	GPathogenic
Select item 687620	GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3	ACP6, ANKRD34A +33 more	Copy number gain	not provided	GPathogenic
Select item 684447	Single allele	ACP6, BCL9 +10 more	Deletion	Chromosome 1q21.1 deletion syndrome	Gnot provided
Select item 666434	GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3	NBPF12, PRKAB2 +9 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 635924	Single allele	ANKRD34A, ANKRD35 +14 more	Duplication	Growth abnormality	GUncertain significance
Select item 625818	GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678)	NBPF12, PDZK1 +10 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 625538	GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037)	ACP6, BCL9 +6 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 625537	GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326)	ACP6, ANKRD34A +23 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 625536	GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122)	ACP6, ANKRD34A +27 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 565174	GRCh37/hg19 1q21.1-21.2(chr1:146145424-147830830)x1	ACP6, BCL9 +7 more	Copy number loss	not provided	GPathogenic
Select item 565173	GRCh37/hg19 1q21.1-21.2(chr1:146117290-147897962)x1	ACP6, BCL9 +7 more	Copy number loss	not provided	GPathogenic
Select item 565172	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 565171	GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 565170	GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1	NBPF11, NBPF12 +8 more	Copy number loss	not provided	GPathogenic
Select item 565169	GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1	ACP6, BCL9 +8 more	Copy number loss	not provided	GPathogenic
Select item 565168	GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1	GPR89B, ACP6 +14 more	Copy number loss	not provided	GPathogenic
Select item 565167	GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1	FMO5, NBPF12 +9 more	Copy number loss	not provided	GPathogenic
Select item 565166	GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1	ACP6, BCL9 +11 more	Copy number loss	not provided	GPathogenic
Select item 565165	GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1	NBPF12, PRKAB2 +9 more	Copy number loss	not provided	GPathogenic
Select item 565164	GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1	ACP6, BCL9 +11 more	Copy number loss	not provided	GPathogenic
Select item 565163	GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1	ACP6, BCL9 +11 more	Copy number loss	not provided	GPathogenic
Select item 565162	GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 565161	GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1	ACP6, BCL9 +11 more	Copy number loss	not provided	GPathogenic
Select item 565160	GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 565159	GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1	ACP6, BCL9 +9 more	Copy number loss	not provided	GPathogenic
Select item 565158	GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1	GPR89B, NBPF11 +10 more	Copy number loss	not provided	GPathogenic
Select item 565153	GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3	ACP6, ANKRD34A +24 more	Copy number gain	not provided	GPathogenic
Select item 565151	GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1	ACP6, ANKRD34A +27 more	Copy number loss	not provided	GPathogenic
Select item 565150	GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1	ACP6, ANKRD34A +29 more	Copy number loss	not provided	GPathogenic
Select item 565149	GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 565147	GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3	ACP6, ANKRD34A +28 more	Copy number gain	not provided	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 545143	NC_000001.11:g.(?_145430995)_(148427734_?)del	RNVU1-6, RNVU1-7 +118 more	Deletion	Schizophrenia	GPathogenic
Select item 545142	NC_000001.11:g.(?_145430995)_(148257619_?)del	LOC129931347, LOC129931348 +104 more	Deletion	Schizophrenia	GPathogenic
Select item 443873	GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	See cases	GPathogenic
Select item 443666	GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3	ACP6, BCL9 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 443524	GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1	ACP6, ANKRD34A +33 more	Copy number loss	See cases	GPathogenic
Select item 443303	GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4	ACP6, BCL9 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 443193	GRCh37/hg19 1q21.1-21.2(chr1:146105170-148020200)x1	ACP6, BCL9 +7 more	Copy number loss	See cases	GPathogenic
Select item 443156	GRCh37/hg19 1q21.1-21.2(chr1:146096701-147898062)x1	ACP6, BCL9 +7 more	Copy number loss	See cases	GPathogenic
Select item 443051	GRCh37/hg19 1q21.1-21.2(chr1:146101790-148020200)x1	ACP6, BCL9 +7 more	Copy number loss	See cases	GPathogenic
Select item 442806	GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1	ACP6, BCL9 +8 more	Copy number loss	See cases	GPathogenic
Select item 442792	GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3	ACP6, BCL9 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 442747	GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3	ACP6, BCL9 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 442657	GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1	ACP6, BCL9 +7 more	Copy number loss	See cases	GPathogenic
Select item 442447	GRCh37/hg19 1q21.1-21.2(chr1:146023923-147929323)x1	ACP6, BCL9 +8 more	Copy number loss	See cases	GPathogenic

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