isy1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 16

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3874836	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr3: 128,779,669-128,806,811 , GRCh38.p12 chr3: 129,060,826-129,087,968	ISY1-RAB43, GP9, 1 more genes
nsv3876094	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr3: 128,780,456-128,806,811 , GRCh38.p12 chr3: 129,061,613-129,087,968	RAB43, ISY1-RAB43, 1 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	ISY1, HNRNPA1P23, 278 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	ISY1, RNU6-789P, 169 more genes
nsv6112709	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 123,000,000-129,700,000 , GRCh38.p12 chr3: 123,281,153-129,981,157	ISY1, OR7E97P, 160 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	ISY1, 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	ISY1, 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	ISY1, 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	ISY1, 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	ISY1, 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	ISY1, 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	ISY1, ACP3, 130 more genes
nsv3883666	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 128,660,985-129,811,200 , GRCh38.p12 chr3: 128,942,142-130,092,357	ISY1, RHO, 35 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	ISY1, NCK1-DT, 271 more genes
nsv7096931	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr3: 126,707,437-130,720,194 , GRCh38.p12 chr3: 126,988,594-131,001,350	ISY1, JMJD4P1, 104 more genes
nsv3921028	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 128,319,908-128,901,422 , GRCh38 chr3: 128,601,065-129,182,579 , NCBI36 chr3: 129,802,598-130,384,112	ISY1, RN7SL698P, 20 more genes

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isy1[All Fields] AND 1[has_clinical] (17)
dbVar
Homo sapiens chromosome 21, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 21, GRCh38.p14 Primary Assembly
gi|568815577|gnl|ASM:GCF_000001305| f|NC_000021.9||gpp|GPC_000001313.1||gnl|NCBI_GENOMES|21

Nucleotide
Taxonomy Links for Nucleotide (Select 1894824793) (1)
Taxonomy
LOC115094722 [Rhinatrema bivittatum]
LOC115094722 [Rhinatrema bivittatum]
Gene ID:115094722

Gene
Gene Links for Protein (Select 1694576069) (1)
Gene

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