esyt1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 11

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	ESYT1, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	ESYT1, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	ESYT1, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	ESYT1, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	ESYT1, OR5BT1P, 2441 more genes
nsv4675143	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523	ESYT1, OR6C71P, 183 more genes
nsv3910529	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 52,100,657-54,882,993 , GRCh38 chr12: 53,420,606-56,202,942 , GRCh37 chr12: 53,814,390-56,596,726	ESYT1, OR6C72P, 140 more genes
nsv6315199	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr12: 55,986,511-56,885,590 , GRCh37.p13 chr12: 56,380,295-57,279,374	ESYT1, ERBB3, 47 more genes
nsv6313979	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 56,333,262-57,010,442 , GRCh38.p12 chr12: 55,939,478-56,616,658	ESYT1, TRS-CGA4-1, 42 more genes
nsv3893686	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 55,975,308-56,593,032 , GRCh38.p12 chr12: 55,581,524-56,199,248	ESYT1, GDF11, 40 more genes
nsv4729160	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 56,333,246-56,558,418 , GRCh38.p12 chr12: 55,939,462-56,164,634	ESYT1, RPS26, 16 more genes

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