ClinVar for MedGen (Select 382715) - ClinVar - NCBI

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Items: 15

	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 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 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 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 1690369	NC_000001.11:g.(146472798_148439081)dup		Duplication	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1679693	Single allele	ACP6, BCL9 +51 more	Duplication	Chromosome 1q21.1 duplication syndrome	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 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 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 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic