aste1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4450312	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 130,634,946-130,768,428 , GRCh38.p12 chr3: 130,916,102-131,049,584	ASTE1, LOC100420298, 3 more genes
nsv3920279	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 129,817,243-143,381,624 , GRCh37 chr3: 129,536,086-143,100,466 , NCBI36 chr3: 131,018,776-144,583,156	ASTE1, NPHP3-AS1, 218 more genes
nsv6311770	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 120,365,818-133,465,047 , GRCh38.p12 chr3: 120,646,971-133,746,203	ASTE1, HNRNPA1P23, 278 more genes
nsv3914757	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 131,018,776-142,626,687 , GRCh38 chr3: 129,817,243-141,425,155 , GRCh37 chr3: 129,536,086-141,143,997	ASTE1, CLSTN2-AS1, 177 more genes
nsv6112714	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 127,927,712-136,889,323 , GRCh38.p12 chr3: 128,208,869-137,170,481	ASTE1, RNU6-789P, 169 more genes
nsv3918871	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 130,401,265-139,005,019 , NCBI36 chr3: 131,602,799-140,206,551 , GRCh37 chr3: 130,120,109-138,723,861	ASTE1, FOXL2, 132 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	ASTE1, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	ASTE1, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	ASTE1, RPL23AP49, 2875 more genes
nsv3918981	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 103,145,726-197,837,049 , GRCh38 chr3: 103,426,882-198,110,178 , NCBI36 chr3: 104,628,416-199,321,446	ASTE1, LINC02614, 1469 more genes
nsv6637156	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 116,620,308-172,042,292 , GRCh38.p12 chr3: 116,901,461-172,324,502	ASTE1, H1-10, 846 more genes
nsv3922717	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 95,002,154-146,895,858 , GRCh38 chr3: 93,800,620-145,695,381 , GRCh37 chr3: 93,519,464-145,413,168	ASTE1, OR7E53P, 794 more genes
nsv3912335	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr3: 128,809,478-134,768,195 , GRCh37 chr3: 127,326,788-133,285,505 , GRCh38 chr3: 127,607,945-133,566,661	ASTE1, ACP3, 130 more genes
nsv3920834	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr3: 127,308,312-142,119,621 , GRCh38 chr3: 126,106,779-140,918,089 , GRCh37 chr3: 125,825,622-140,636,931	ASTE1, NCK1-DT, 271 more genes

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