dbVar for OMIM (Select 264800) - dbVar - NCBI

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Items: 10

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Number of Variants: 10

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7148105	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 15,475,455-16,308,356 , GRCh38.p12 chr16: 15,381,598-16,214,499 , GRCh38.p12 chr16\|NT_187607.1: 1,039,549-1,872,496	NDE1, RPL15P20, 15 more genes
nsv6112790	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 16,248,464-16,259,810 , GRCh38.p12 chr16: 16,154,607-16,165,953 , GRCh38.p12 chr16\|NT_187607.1: 1,812,535-1,823,883	ABCC6
nsv5672596	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr16: 16,288,728-16,295,942 , GRCh38 chr16: 16,194,871-16,202,085	ABCC6
nsv3918311	insertion	1	nstd102	human	Pathogenic	GRCh37 chr16: 16,276,278-16,276,278 , GRCh38 chr16: 16,182,421-16,182,421	ABCC6
nsv3885195	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 15,788,690-16,185,034 , GRCh37.p13 chr16: 15,882,547-16,278,891	ABCC6, ABCC1, 6 more genes
nsv3884661	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 16,151,251-16,167,673 , GRCh37 chr16: 16,245,108-16,261,530	ABCC6
nsv3880502	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 16,245,107-16,261,514 , GRCh38 chr16: 16,151,250-16,167,657	ABCC6
nsv3880175	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 15,796,991-16,317,329 , GRCh38 chr16: 15,703,134-16,223,472	ABCC1, LOC105371100, 8 more genes
nsv3880169	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr16: 16,156,081-16,164,198 , GRCh37 chr16: 16,249,938-16,258,055	ABCC6
nsv3878519	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 16,297,473-16,315,581 , GRCh38 chr16: 16,203,616-16,221,724	LOC105371100, ABCC6

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