bbs10[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 15

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Number of Variants: 15

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4683922	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 76,739,583-76,742,148 , GRCh38.p12 chr12: 76,345,803-76,348,368	BBS10
nsv6309516	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 76,739,593-76,742,138 , GRCh38.p12 chr12: 76,345,813-76,348,358	BBS10
nsv4729517	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr12: 76,557,730-76,885,572 , GRCh38.p12 chr12: 76,163,950-76,491,792	BBS10, LNCOG, 2 more genes
nsv4675747	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 76,708,985-76,800,739 , GRCh38.p12 chr12: 76,315,205-76,406,959	BBS10, RN7SKP172, 1 more genes
nsv3892030	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 69,608,090-89,629,345 , GRCh38.p12 chr12: 69,214,310-89,235,568	BBS10, LOC101928002, 197 more genes
nsv3922777	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 73,879,477-93,189,581 , NCBI36 chr12: 72,165,744-91,713,712 , GRCh38 chr12: 73,485,697-92,795,805	BBS10, RN7SL734P, 195 more genes
nsv3924329	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 70,731,264-82,154,924 , GRCh38 chr12: 70,337,484-81,761,145 , NCBI36 chr12: 69,017,531-80,679,055	BBS10, NAV3, 118 more genes
nsv3924723	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 70,163,517-77,357,997 , NCBI36 chr12: 68,449,784-75,882,128 , GRCh38 chr12: 69,769,737-76,964,217	BBS10, KRR1, 80 more genes
nsv6291127	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 70,084,476-77,065,764 , GRCh38.p12 chr12: 69,690,696-76,671,984	BBS10, LOC100130268, 78 more genes
nsv3918758	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 75,683,698-80,195,649 , NCBI36 chr12: 74,363,745-79,113,560 , GRCh37 chr12: 76,077,478-80,589,429	BBS10, YWHAQP7, 48 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	BBS10, 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	BBS10, 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	BBS10, 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	BBS10, 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	BBS10, OR5BT1P, 2441 more genes

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