spec1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 12

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3889807	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr1: 151,030,738-151,037,976 , GRCh38.p12 chr1: 151,058,262-151,065,500	CDC42SE1, MLLT11
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	CRB1, STX6, 1608 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	MARK1, LINC02766, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	SNAP47, STK40, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	RNU1-153P, MIR3917, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	LOC101060227, LINC01720, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	HORMAD1, BCAN-AS1, 923 more genes
nsv3877540	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310	LCE1F, SPRR2G, 197 more genes
nsv3907566	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 149,228,433-149,823,877 , GRCh37 chr1: 150,961,809-151,557,253 , GRCh38 chr1: 150,989,333-151,584,777	PI4KB, PSMB4, 31 more genes
nsv3875781	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 150,997,723-151,040,971 , GRCh38.p12 chr1: 151,025,247-151,068,495	MLLT11, PRUNE1, 4 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	DCST1, NUDT17, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	PRPF3, KHDC4, 352 more genes

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