ClinVar for Gene (Select 11126) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3140295	NM_007053.4(CD160):c.55G>A (p.Val19Met)	CD160 (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140294	NM_007053.4(CD160):c.350A>G (p.Gln117Arg)	CD160 (Q117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062018	Single allele	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	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 2685824	GRCh37/hg19 1q21.1(chr1:145287320-145764679)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2685632	GRCh37/hg19 1q21.1(chr1:145622531-145927662)x1	CD160, GPR89A +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685621	GRCh37/hg19 1q21.1(chr1:145382124-145803834)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 2685610	GRCh37/hg19 1q21.1(chr1:145368365-145829474)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
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 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2593395	NM_007053.4(CD160):c.452T>A (p.Phe151Tyr)	CD160 (F151Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2580306	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2578607	GRCh37/hg19 1q21.1(chr1:145646115-145826929)x3	CD160, GPR89A +2 more	Copy number gain	not provided	GUncertain significance
Select item 2574675	GRCh37/hg19 1q21.1(chr1:145382123-145792051)	ANKRD34A, ANKRD35 +14 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2512734	NM_007053.4(CD160):c.364C>T (p.Arg122Cys)	CD160 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2445217	Single allele	GPR89A, ANKRD34A +14 more	Deletion	See cases	GPathogenic
Select item 2412299	NM_007053.4(CD160):c.317A>G (p.His106Arg)	CD160 (H106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	PIAS3, POLR3C +25 more	Copy number loss	not provided	GPathogenic
Select item 1809273	GRCh37/hg19 1q21.1(chr1:144823070-146011861)x1	ANKRD34A, ANKRD35 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1809053	GRCh37/hg19 1q21.1(chr1:145622531-145888926)x1	CD160, GPR89A +2 more	Copy number loss	not provided	GUncertain significance
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 1808499	GRCh37/hg19 1q21.1(chr1:145621908-145808309)x1	PDZK1, RNF115 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808275	GRCh37/hg19 1q21.1(chr1:145617349-145888926)x1	CD160, GPR89A +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808021	GRCh37/hg19 1q21.1(chr1:145608099-145888926)x1	CD160, GPR89A +3 more	Copy number loss	not provided	GUncertain significance
Select item 1807758	GRCh37/hg19 1q21.1(chr1:145083851-145986573)x1	ANKRD34A, ANKRD35 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711161	GRCh37/hg19 1q21.1(chr1:145387023-145764679)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	See cases	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 1704315	GRCh37/hg19 1q21.1(chr1:144893419-145803834)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	Dysmorphic features	GUncertain significance
Select item 1694557	GRCh37/hg19 1q21.1(chr1:145648016-145826929)x3	CD160, GPR89A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1341243	GRCh37/hg19 1q21.1(chr1:145372549-145829474)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1341102	GRCh37/hg19 1q21.1(chr1:145369199-145886340)x1	RNF115, TXNIP +14 more	Copy number loss	not provided	GUncertain significance
Select item 1340307	GRCh37/hg19 1q21.1(chr1:145625129-145888926)x1	GPR89A, PDZK1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1339918	GRCh37/hg19 1q21.1(chr1:145625692-145770627)x3	CD160, GPR89A +2 more	Copy number gain	not provided	Gnot provided
Select item 1333003	GRCh37/hg19 1q21.1(chr1:145038814-145747463)	ANKRD34A, ANKRD35 +16 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1331349	NC_000001.10:g.145382933_145831892del	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GLikely pathogenic
Select item 1330212	GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Microcephaly +6 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 983176	GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	See cases	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 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 980941	GRCh37/hg19 1q21.1(chr1:145288338-146011861)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GPathogenic
Select item 973088	GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	Gnot provided
Select item 814124	GRCh37/hg19 1q21.1(chr1:145625128-145958362)x1	RNF115, CD160 +2 more	Copy number loss	not provided	GUncertain significance
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 718727	NM_007053.4(CD160):c.250G>A (p.Gly84Arg)	CD160 (G84R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 689327	GRCh37/hg19 1q21.1(chr1:145376197-145792148)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 689214	GRCh37/hg19 1q21.1(chr1:145369199-145770627)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 689177	GRCh37/hg19 1q21.1(chr1:145372549-145770627)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 689165	GRCh37/hg19 1q21.1(chr1:145480145-145810881)x3	ANKRD35, CD160 +10 more	Copy number gain	not provided	GUncertain significance
Select item 689004	GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 688796	GRCh37/hg19 1q21.1(chr1:145368364-145809279)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
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 688182	GRCh37/hg19 1q21.1(chr1:144950620-145764679)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	not provided	GUncertain significance
Select item 687952	GRCh37/hg19 1q21.1(chr1:145382123-145764679)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687903	GRCh37/hg19 1q21.1(chr1:144884265-145764679)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	not provided	GUncertain significance
Select item 687888	GRCh37/hg19 1q21.1(chr1:145376197-145764679)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687790	GRCh37/hg19 1q21.1(chr1:145382123-145792148)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
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 687583	GRCh37/hg19 1q21.1(chr1:145398236-145792148)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687055	GRCh37/hg19 1q21.1(chr1:145225122-145770627)x3	ANKRD34A, ANKRD35 +16 more	Copy number gain	not provided	GUncertain significance
Select item 686647	GRCh37/hg19 1q21.1(chr1:145311524-145769109)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 686423	GRCh37/hg19 1q21.1(chr1:145382123-145747910)x3	ANKRD34A, ANKRD35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686126	GRCh37/hg19 1q21.1(chr1:145375589-145768023)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 686103	GRCh37/hg19 1q21.1(chr1:145382123-145899214)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685637	GRCh37/hg19 1q21.1(chr1:144861071-145792148)x3	ANKRD34A, ANKRD35 +17 more	Copy number gain	not provided	GUncertain significance
Select item 685341	GRCh37/hg19 1q21.1(chr1:145311524-145809279)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 635924	Single allele	ANKRD34A, ANKRD35 +14 more	Duplication	Growth abnormality	GUncertain significance
Select item 625541	GRCh37/hg19 1q21.1(chr1:145395604-145704146)	ANKRD34A, ANKRD35 +12 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
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 585236	GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1	POLR3C, POLR3GL +14 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	Gnot provided
Select item 565157	GRCh37/hg19 1q21.1(chr1:145625128-145888926)x1	CD160, PDZK1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 565156	GRCh37/hg19 1q21.1(chr1:145398177-145809279)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 565155	GRCh37/hg19 1q21.1(chr1:145387023-145928000)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 565154	GRCh37/hg19 1q21.1(chr1:145376224-145770626)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	GLikely benign
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 565152	GRCh37/hg19 1q21.1(chr1:145368364-145803834)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
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 565148	GRCh37/hg19 1q21.1(chr1:144823069-145888926)x1	ANKRD34A, ANKRD35 +18 more	Copy number loss	not provided	GUncertain significance
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 545147	Single allele	LOC129931348, LOC129931349 +52 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545146	NC_000001.11:g.(?_145601945)_(146048346_?)del	ANKRD34A, ANKRD35 +52 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545145	Single allele	ANKRD34A, ANKRD35 +52 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 446354	GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3	GPR89A, ANKRD34A +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 443873	GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	See cases	GPathogenic

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