2702[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	ACP6, ANKRD34A +212 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +177 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	ACP6, ANKRD34A +182 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +177 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	PRKAB2, RNVU1-27 +168 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	LOC129931323, LOC129931324 +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ANKRD35, LIX1L +143 more	Copy number gain	See cases	GPathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ANKRD35, BCL9 +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ANKRD35, ACP6 +133 more	Copy number gain	See cases	GPathogenic
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	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 35076	GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1	ACP6, ANKRD34A +115 more	Copy number loss	See cases	GPathogenic
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 152673	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 146009	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	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 154442	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3	ACP6, BCL9 +58 more	Copy number gain	See cases	GPathogenic
Select item 149746	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1	FMO5, GJA5 +58 more	Copy number loss	See cases	GPathogenic
Select item 144787	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 57041	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 147326	GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3	ACP6, BCL9 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 146019	GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3	ACP6, BCL9 +57 more	Copy number gain	See cases	GPathogenic
Select item 155678	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 155579	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 155545	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 155466	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 155442	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 155237	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 155061	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 154049	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	LOC112577490, LOC121725051 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 153748	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	LINC02805, LINC02806 +61 more	Copy number loss	See cases	GPathogenic
Select item 153679	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	LINC00624, LINC01138 +61 more	Copy number loss	See cases	GPathogenic
Select item 153549	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 152837	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 152341	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 151215	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 146162	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 144815	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 160943	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1	ACP6, BCL9 +38 more	Copy number loss	See cases	GPathogenic
Select item 160942	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 160926	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 160792	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	TRH-GTG1-2, TRH-GTG1-3 +53 more	Copy number loss	See cases	GPathogenic
Select item 154731	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1	ACP6, BCL9 +49 more	Copy number loss	See cases	GPathogenic
Select item 149965	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1	ACP6, BCL9 +49 more	Copy number loss	See cases	GPathogenic
Select item 149649	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3	TRN-GTT9-2, TRQ-CTG3-2 +49 more	Copy number gain	See cases	GPathogenic
Select item 149503	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1	ACP6, BCL9 +49 more	Copy number loss	See cases	GPathogenic
Select item 148993	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1	ACP6, BCL9 +49 more	Copy number loss	See cases	GPathogenic
Select item 148533	GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1	ACP6, BCL9 +38 more	Copy number loss	See cases	GUncertain significance
Select item 148526	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1	ACP6, BCL9 +49 more	Copy number loss	See cases	GPathogenic
Select item 148452	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1	LINC01731, LINC02805 +49 more	Copy number loss	See cases	GPathogenic
Select item 146196	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4	ACP6, BCL9 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 144623	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3	ACP6, BCL9 +52 more	Copy number gain	See cases	GPathogenic
Select item 59866	GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1	ACP6, BCL9 +38 more	Copy number loss	See cases	GPathogenic
Select item 59857	GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1	LOC129931369, MIR5087 +69 more	Copy number loss	See cases	GPathogenic
Select item 59356	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3	ACP6, BCL9 +53 more	Copy number gain	See cases	GPathogenic
Select item 59355	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3	ACP6, BCL9 +43 more	Copy number gain	See cases	GPathogenic
Select item 59350	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3	ACP6, BCL9 +54 more	Copy number gain	See cases	GPathogenic
Select item 58513	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1	ACP6, BCL9 +46 more	Copy number loss	See cases	GPathogenic
Select item 58512	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1	ACP6, BCL9 +38 more	Copy number loss	See cases	GPathogenic
Select item 58510	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 58508	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1	ACP6, BCL9 +46 more	Copy number loss	See cases	GPathogenic
Select item 58506	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1	ACP6, BCL9 +46 more	Copy number loss	See cases	GPathogenic
Select item 58504	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 57249	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3	ACP6, BCL9 +38 more	Copy number gain	See cases	GPathogenic
Select item 35044	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3	ACP6, BCL9 +53 more	Copy number gain	See cases	GLikely pathogenic
Select item 33940	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 33743	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3	ACP6, BCL9 +49 more	Copy number gain	See cases	GPathogenic
Select item 33120	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	ACP6, BCL9 +53 more	Copy number loss	See cases	GPathogenic
Select item 32105	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3	ACP6, BCL9 +49 more	Copy number gain	See cases	GPathogenic
Select item 155421	GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4	ACP6, BCL9 +67 more	Copy number gain	See cases	GPathogenic
Select item 148696	GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1	ACP6, BCL9 +48 more	Copy number loss	See cases	GPathogenic
Select item 153883	GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3	LINC00624, LOC126805852 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 155305	GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 154494	GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1	ACP6, BCL9 +48 more	Copy number loss	See cases	GPathogenic
Select item 148824	GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3	ACP6, BCL9 +48 more	Copy number gain	See cases	GPathogenic
Select item 146383	GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3	ACP6, BCL9 +48 more	Copy number gain	See cases	GPathogenic

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