ClinVar for Gene (Select 51463) - 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 3101898	NM_016334.5(GPR89B):c.104T>C (p.Ile35Thr)	GPR89B (I10T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	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 3062977	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929115)x1	ACP6, BCL9 +6 more	Copy number loss	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 3062789	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147856007)x3	ACP6, BCL9 +6 more	Copy number gain	not specified	GPathogenic
Select item 3062722	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929323)x1	ACP6, BCL9 +6 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 2685654	GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1	ACP6, BCL9 +6 more	Copy number loss	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 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 2580296	GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1	ACP6, BCL9 +6 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 2553532	NM_016334.5(GPR89B):c.301A>G (p.Asn101Asp)	GPR89B (N101D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2472789	NM_016334.5(GPR89B):c.246T>G (p.Ile82Met)	GPR89B (I57M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2445223	Single allele	ACP6, BCL9 +9 more	Duplication	See cases	GPathogenic
Select item 2411788	NM_016334.5(GPR89B):c.140C>T (p.Thr47Met)	GPR89B (T22M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360005	NM_016334.5(GPR89B):c.107G>A (p.Arg36His)	GPR89B (R36H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295121	NM_016334.5(GPR89B):c.326G>A (p.Arg109Gln)	GPR89B (R84Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249249	NM_016334.5(GPR89B):c.266T>C (p.Met89Thr)	GPR89B (M64T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237209	NM_016334.5(GPR89B):c.337T>C (p.Ser113Pro)	GPR89B (S113P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213626	NM_016334.5(GPR89B):c.121C>G (p.Gln41Glu)	GPR89B (Q41E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 1810322	GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	Gnot provided
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 1803806	GRCh37/hg19 1q21.1-21.2(chr1:146493131-147831043)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 1711249	GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1	ACP6, BCL9 +6 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 1679693	Single allele	ACP6, BCL9 +51 more	Duplication	Chromosome 1q21.1 duplication syndrome	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 997083	GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)	ACP6, BCL9 +6 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 997071	GRCh37/hg19 1q21.1-21.2(chr1:146500972-147851297)	PRKAB2, ACP6 +6 more	Copy number loss	Aicardi syndrome	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 984435	GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3	ACP6, BCL9 +13 more	Copy number gain	See cases	GUncertain significance
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 980946	GRCh37/hg19 1q21.1-21.2(chr1:146496425-147819815)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 980943	GRCh37/hg19 1q21.1-21.2(chr1:146498298-147401392)x3	ACP6, BCL9 +6 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 816488	GRCh37/hg19 1q21.1-21.2(chr1:146501348-147825548)x3	ACP6, BCL9 +6 more	Copy number gain	See cases	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 666433	GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1	PRKAB2, ACP6 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 635903	Single allele	ACP6, BCL9 +6 more	Duplication	Neurodevelopmental disorder	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 625685	GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122)	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 625652	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678)	ACP6, BCL9 +6 more	Copy number loss	Chromosome 1q21.1 deletion 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 565178	GRCh37/hg19 1q21.1-21.2(chr1:146505911-147829213)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 565177	GRCh37/hg19 1q21.1-21.2(chr1:146483912-147828510)x1	ACP6, PRKAB2 +6 more	Copy number loss	not provided	GPathogenic
Select item 565176	GRCh37/hg19 1q21.1-21.2(chr1:146470887-148020200)x1	ACP6, BCL9 +6 more	Copy number loss	not provided	GPathogenic
Select item 565175	GRCh37/hg19 1q21.1-21.2(chr1:146470887-147845170)x1	PRKAB2, ACP6 +6 more	Copy number loss	not provided	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

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