dbVar for OMIM (Select 192600) - dbVar - NCBI

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Items: 18

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7096033	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,917,227-236,920,952 , GRCh38.p12 chr1: 236,753,927-236,757,652	ACTN2
nsv7096032	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,906,176-236,925,919 , GRCh38.p12 chr1: 236,742,876-236,762,619	ACTN2
nsv7096031	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,849,974-236,850,119 , GRCh38.p12 chr1: 236,686,674-236,686,819	ACTN2
nsv7095594	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,902,582-236,902,852 , GRCh38.p12 chr1: 236,739,282-236,739,552	ACTN2
nsv7095150	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 37,821,613-38,458,253 , GRCh38.p12 chr17: 39,665,360-40,302,001	ZPBP2, MED24, 28 more genes
nsv6311040	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr20: 31,821,475-31,821,564 , GRCh37 chr20: 30,409,278-30,409,367	MYLK2
nsv6311003	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,881,138-236,925,919 , GRCh38.p12 chr1: 236,717,838-236,762,619	ACTN2
nsv6310951	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,849,954-236,925,939 , GRCh38.p12 chr1: 236,686,654-236,762,639	ACTN2
nsv6310862	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 236,849,974-236,925,919 , GRCh38.p12 chr1: 236,686,674-236,762,619	ACTN2
nsv6137864	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 23,880,114-23,882,492 , GRCh38.p12 chr14: 23,410,905-23,413,283	MYH7
nsv5564319	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,906,227-236,906,228 , GRCh38 chr1: 236,742,927-236,742,928	ACTN2
nsv5381293	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,848,754-236,928,931 , GRCh38.p12 chr1: 236,685,454-236,765,631	ACTN2
nsv5381069	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 236,849,954-237,551,503 , GRCh38.p12 chr1: 236,686,654-237,388,203	RPL35P1, MTR, 7 more genes
nsv5381030	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 37,821,603-37,822,372 , GRCh38.p12 chr17: 39,665,350-39,666,119	TCAP, PNMT
nsv4682479	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,898,925-236,902,842 , GRCh38 chr1: 236,735,625-236,739,542	ACTN2
nsv3889101	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 236,751,450-236,762,639 , GRCh37 chr1: 236,914,750-236,925,939	ACTN2
nsv3879425	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,849,954-237,205,889 , GRCh38 chr1: 236,686,654-237,042,589	LOC105373218, RPSAP21, 6 more genes
nsv3872144	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 236,849,954-236,899,988 , GRCh38.p12 chr1: 236,686,654-236,736,688	ACTN2

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