stxbp4[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3896622	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 53,170,676-53,209,036 , GRCh38.p12 chr17: 55,093,315-55,131,675	STXBP4, LOC107985002
nsv3913183	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr17: 50,062,202-50,431,571 , GRCh37.p13 chr17: 52,707,203-53,076,572 , GRCh38.p12 chr17: 54,629,842-54,999,211	STXBP4, COX11, 3 more genes
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	STXBP4, PRPSAP1, 1350 more genes
nsv3920880	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 49,974,533-56,807,609 , NCBI36 chr17: 45,406,896-52,239,969 , GRCh37 chr17: 48,051,897-54,884,970	STXBP4, LOC107984983, 85 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	STXBP4, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	STXBP4, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	STXBP4, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	STXBP4, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	STXBP4, LOC105371922, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	STXBP4, FOXK2, 958 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	STXBP4, RNU6-131P, 1075 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	STXBP4, PLEKHH3, 958 more genes
nsv3890268	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 49,076,980-58,740,945 , GRCh38.p12 chr17: 50,999,619-60,663,584	STXBP4, NDUFB8P2, 161 more genes
nsv3892374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 52,189,051-57,477,162 , GRCh38.p12 chr17: 54,111,690-59,399,801	STXBP4, RN7SKP14, 93 more genes

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