psmc5[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
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	PSMC5, 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	PSMC5, 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	PSMC5, 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	PSMC5, 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	PSMC5, 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	PSMC5, 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	PSMC5, 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	PSMC5, 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	PSMC5, PLEKHH3, 958 more genes
nsv4457799	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,869,604-67,078,443 , GRCh38.p12 chr17: 59,792,243-69,082,302	PSMC5, PECAM1, 215 more genes
nsv4349383	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 57,357,088-66,306,668 , GRCh38.p12 chr17: 59,279,727-68,310,527	PSMC5, FAM136DP, 214 more genes
nsv3895703	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 56,321,134-62,080,001 , GRCh38.p12 chr17: 58,243,773-64,002,641	PSMC5, GH2, 161 more genes
nsv3904909	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 59,597,348-64,886,364 , GRCh38.p12 chr17: 61,519,987-66,890,247	PSMC5, PRELID3BP3, 122 more genes
nsv3896546	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 56,564,411-61,652,777 , GRCh37 chr17: 59,209,629-64,222,315 , GRCh38.p12 chr17: 61,132,268-66,226,197	PSMC5, LIMD2, 121 more genes
nsv6637179	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 61,838,634-62,465,444 , GRCh38.p12 chr17: 63,761,274-64,469,327	PSMC5, GH2, 24 more genes
nsv3916307	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr17: 63,648,253-63,855,879 , GRCh37 chr17: 61,725,613-61,933,239 , NCBI36 chr17: 59,079,345-59,286,971	PSMC5, FTSJ3, 9 more genes

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