hs1bp3[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 18

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6634330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419	HS1BP3, CYP1B1-AS1, 1649 more genes
nsv4451022	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,631,145-21,729,493 , GRCh38.p12 chr2: 15,491,021-21,506,621	HS1BP3, RAD51AP2, 82 more genes
nsv3891917	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 16,904,863-21,823,606 , GRCh38 chr2: 16,723,596-21,600,734 , NCBI36 chr2: 16,768,344-21,677,111	HS1BP3, LOC105373454, 68 more genes
nsv3873411	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 19,905,995-24,762,790 , GRCh38.p12 chr2: 19,706,234-24,539,921	HS1BP3, LOC100130841, 77 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	HS1BP3, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	HS1BP3, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	HS1BP3, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	HS1BP3, MTND2P22, 3724 more genes
nsv3908605	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277	HS1BP3, SLC35F6, 801 more genes
nsv3908288	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875	HS1BP3, ALLC, 674 more genes
nsv6636815	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573	HS1BP3, LOC105374455, 504 more genes
nsv3908038	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 12,770-33,936,576 , NCBI36 chr2: 2,770-33,790,080 , GRCh38 chr2: 12,770-33,711,509	HS1BP3, LOC105373394, 507 more genes
nsv3907033	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 20,341-28,496,035 , GRCh38 chr2: 30,341-28,419,664 , GRCh37 chr2: 30,341-28,642,531	HS1BP3, GTF3C2-AS1, 434 more genes
nsv3893260	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 17,019-26,541,714 , GRCh38 chr2: 17,019-26,318,846 , NCBI36 chr2: 7,019-26,395,218	HS1BP3, LOC102723389, 362 more genes
nsv3896997	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 12,770-25,039,694 , GRCh37 chr2: 12,770-25,262,563 , NCBI36 chr2: 2,770-25,116,067	HS1BP3, LOC105373359, 333 more genes
nsv3908459	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 1,647,394-23,740,517 , GRCh38 chr2: 1,664,615-23,664,142 , GRCh37 chr2: 1,668,387-23,887,012	HS1BP3, EIF1P7, 277 more genes
nsv3903805	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899	HS1BP3, LOC101927723, 1246 more genes
nsv3914242	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr2: 20,532,746-20,681,026 , GRCh37.p13 chr2: 20,669,265-20,817,545 , GRCh38.p12 chr2: 20,469,504-20,617,785	HS1BP3, NDUFAF2P1, 4 more genes

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