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

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Number of Variants: 9

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7095621	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 47,716,808-47,728,805 , GRCh38.p12 chr1: 47,251,136-47,263,133	STIL
nsv7096054	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 47,716,808-47,882,947 , GRCh38.p12 chr1: 47,251,136-47,417,275	STIL, FOXE3, 2 more genes
nsv4674547	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,272,184-52,505,405 , GRCh38.p12 chr1: 46,806,512-52,039,733	STIL, RAB3B, 90 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	STIL, MARK1, 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	STIL, SNAP47, 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	STIL, RNU1-153P, 4887 more genes
nsv6313688	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139	STIL, LOC107984940, 407 more genes
nsv3888489	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184	STIL, CDKN2C, 141 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	STIL, LINC01776, 1853 more genes

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stil[All Fields] AND 1[has_clinical] (10)
dbVar
Conserved Domain Links for Structure (Select 24306) (1)
Conserved Domains
mitogen-activated protein kinase kinase kinase kinase 5 [Homo sapiens]
mitogen-activated protein kinase kinase kinase kinase 5 [Homo sapiens]
gi|14589909|ref|NP_006566.2|

Protein

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