ClinVar for Gene (Select 51205) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3481949	NM_016361.5(ACP6):c.19A>G (p.Ser7Gly)	ACP6 (S7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3481948	NM_016361.5(ACP6):c.815G>T (p.Arg272Ile)	ACP6 (R272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481946	NM_016361.5(ACP6):c.454C>T (p.Pro152Ser)	ACP6 (P152S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3481945	NM_016361.5(ACP6):c.485G>A (p.Arg162His)	ACP6 (R162H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3391871	GRCh37/hg19 1q21.1-21.2(chr1:144342778-148832359)x1	ACP6, ANKRD34A +34 more	Copy number loss	not provided	GPathogenic
Select item 3262499	NM_016361.5(ACP6):c.784C>T (p.His262Tyr)	ACP6 (H262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262488	NM_016361.5(ACP6):c.419G>A (p.Arg140Lys)	ACP6 (R140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 3236399	NC_000001.11:g.146020242_147909267del	ACP6, BCL9 +46 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
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 3139114	NM_016361.5(ACP6):c.673C>G (p.Gln225Glu)	ACP6 (Q225E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139101	NM_016361.5(ACP6):c.607C>T (p.Pro203Ser)	ACP6 (P203S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139098	NM_016361.5(ACP6):c.599T>G (p.Val200Gly)	ACP6 (V200G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139085	NM_016361.5(ACP6):c.358T>A (p.Phe120Ile)	ACP6 (F120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139082	NM_016361.5(ACP6):c.353G>A (p.Gly118Asp)	ACP6 (G118D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139059	NM_016361.5(ACP6):c.1138G>A (p.Gly380Arg)	ACP6 (G380R)	Single nucleotide variant (missense variant +1 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 2685826	GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3	ACP6, BCL9 +5 more	Copy number gain	not provided	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 2546967	NM_016361.5(ACP6):c.585A>C (p.Glu195Asp)	ACP6 (E195D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537350	NM_016361.5(ACP6):c.1206G>A (p.Met402Ile)	ACP6 (M402I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516475	NM_016361.5(ACP6):c.769G>A (p.Ala257Thr)	ACP6 (A257T)	Single nucleotide variant (missense variant +1 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 2495199	NM_016361.5(ACP6):c.967G>A (p.Asp323Asn)	ACP6 (D323N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488290	NM_016361.5(ACP6):c.1119T>A (p.Phe373Leu)	ACP6 (F373L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457509	NM_016361.5(ACP6):c.112G>A (p.Asp38Asn)	ACP6 (D38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445223	Single allele	ACP6, BCL9 +9 more	Duplication	See cases	GPathogenic
Select item 2425333	NC_000001.10:g.(?_146714354)_(147381384_?)del	ACP6, BCL9 +3 more	Deletion	Cataract 1 multiple types	GPathogenic
Select item 2393762	NM_016361.5(ACP6):c.460T>A (p.Phe154Ile)	ACP6 (F154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393046	NM_016361.5(ACP6):c.301A>C (p.Lys101Gln)	ACP6 (K101Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382597	NM_016361.5(ACP6):c.22A>G (p.Met8Val)	ACP6 (M8V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360126	NM_016361.5(ACP6):c.326A>G (p.Gln109Arg)	ACP6 (Q109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320924	NM_016361.5(ACP6):c.766G>A (p.Val256Met)	ACP6 (V256M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318683	NM_016361.5(ACP6):c.182C>G (p.Ala61Gly)	ACP6 (A61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313179	NM_016361.5(ACP6):c.712A>G (p.Arg238Gly)	ACP6 (R238G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306138	NM_016361.5(ACP6):c.733G>A (p.Asp245Asn)	ACP6 (D245N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289892	NM_016361.5(ACP6):c.1265T>C (p.Met422Thr)	ACP6 (M422T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2267834	NM_016361.5(ACP6):c.409G>A (p.Glu137Lys)	ACP6 (E137K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245658	NM_016361.5(ACP6):c.502C>T (p.Arg168Trp)	ACP6 (R168W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243973	NM_016361.5(ACP6):c.1113G>T (p.Glu371Asp)	ACP6 (E371D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241477	NM_016361.5(ACP6):c.635G>A (p.Arg212Lys)	ACP6 (R212K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238828	NM_016361.5(ACP6):c.660G>C (p.Gln220His)	ACP6 (Q220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216013	NM_016361.5(ACP6):c.134G>A (p.Arg45His)	ACP6 (R45H)	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 1808477	GRCh37/hg19 1q21.1-21.2(chr1:146498299-147393336)x3	ACP6, BCL9 +5 more	Copy number gain	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	PRKAB2, ACP6 +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 1440405	NC_000001.10:g.(?_146714354)_(147381384_?)dup	ACP6, BCL9 +3 more	Duplication	Cataract 1 multiple types	GUncertain significance
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	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +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)	BCL9, 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 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 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

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