atp6v0a1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 13

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6315278	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 40,599,557-40,649,783 , GRCh38.p12 chr17: 42,447,539-42,497,765	ATP6V0A1, MIR548AT
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	ATP6V0A1, PRPSAP1, 1350 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	ATP6V0A1, 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	ATP6V0A1, 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	ATP6V0A1, 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	ATP6V0A1, 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	ATP6V0A1, LOC105371922, 1855 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	ATP6V0A1, 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	ATP6V0A1, PLEKHH3, 958 more genes
nsv3911344	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 37,356,126-43,706,945 , NCBI36 chr17: 34,609,652-41,062,728 , GRCh38 chr17: 39,199,873-45,629,579	ATP6V0A1, IFI35, 345 more genes
nsv3895268	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 40,570,771-40,797,461 , GRCh38.p12 chr17: 42,418,753-42,645,443	ATP6V0A1, PTP4A2P1, 14 more genes
nsv4457606	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 40,583,927-40,778,487 , GRCh38.p12 chr17: 42,431,909-42,626,469	ATP6V0A1, NAGLU, 13 more genes
nsv4457627	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 40,595,473-40,785,031 , GRCh38.p12 chr17: 42,443,455-42,633,013	ATP6V0A1, HSD17B1, 11 more genes

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