espl1[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
nsv3924873	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 53,224,024-54,222,450 , GRCh37 chr12: 53,617,808-54,616,234 , NCBI36 chr12: 51,904,075-52,902,501	ESPL1, PFDN5, 51 more genes
nsv3912083	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 53,493,442-54,118,309 , NCBI36 chr12: 51,779,709-52,404,576 , GRCh38 chr12: 53,099,658-53,724,525	ESPL1, EIF4A1P4, 30 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	ESPL1, 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	ESPL1, 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	ESPL1, 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	ESPL1, 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	ESPL1, OR5BT1P, 2441 more genes
nsv4729204	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 53,614,278-53,971,802 , GRCh38.p12 chr12: 53,220,494-53,578,018	ESPL1, AMHR2, 18 more genes
nsv3917346	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr12: 51,531,901-52,238,875 , GRCh37 chr12: 53,245,634-53,952,608 , GRCh38 chr12: 52,851,850-53,558,824	ESPL1, AMHR2, 35 more genes
nsv4729090	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 53,372,321-53,864,490 , GRCh38.p12 chr12: 52,978,537-53,470,706	ESPL1, SPRYD3, 25 more genes
nsv3920847	inversion	1	nstd102	human	Uncertain significance	GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538	ESPL1, ASIC1, 491 more genes

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