ift20[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
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	IFT20, 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	IFT20, 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	IFT20, 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	IFT20, 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	IFT20, LOC105371922, 1855 more genes
nsv4457831	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 21,690,653-38,772,647 , GRCh38.p12 chr17: 22,164,047-40,616,395	IFT20, LOC105371753, 474 more genes
nsv6314042	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 21,690,653-28,281,232 , GRCh38.p12 chr17: 22,164,047-29,954,214	IFT20, TAOK1, 131 more genes
nsv4675321	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 25,274,363-28,450,707 , GRCh38.p12 chr17: 26,947,337-30,123,689	IFT20, ABHD15, 112 more genes
nsv3892534	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 21,279,289-27,474,974 , GRCh38.p12 chr17: 21,375,977-29,147,956	IFT20, ALDOC, 120 more genes
nsv3972367	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 25,403,446-31,685,464 , GRCh38.p12 chr17: 27,076,420-33,358,446	IFT20, ASIC2, 190 more genes
nsv3909986	copy number variation	1	nstd102	human	Benign	GRCh38 chr17: 28,283,125-28,904,397 , GRCh37 chr17: 26,610,151-27,231,415 , NCBI36 chr17: 23,634,278-24,255,541	IFT20, SLC13A2, 44 more genes
nsv3903658	copy number variation	1	nstd102	human	drug response	GRCh37 chr17: 25,248,166-30,645,676 , GRCh38.p12 chr17: 26,935,981-32,318,657	IFT20, KRT18P55, 179 more genes
nsv3891454	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 26,619,789-26,723,666 , GRCh38.p12 chr17: 28,292,763-28,396,647	IFT20, SEBOX, 9 more genes
nsv3898099	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 21,308,559-26,655,801 , GRCh38.p12 chr17: 21,405,247-28,328,775	IFT20, MTND4LP8, 71 more genes
nsv7148088	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 25,263,507-27,829,791 , GRCh38.p12 chr17: 26,936,481-29,502,773	IFT20, RNU4-34P, 95 more genes

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ift20[All Fields] AND 1[has_clinical] (16)
dbVar
Chain H, Delta-1-pyrroline-5-carboxylate synthase A
Chain H, Delta-1-pyrroline-5-carboxylate synthase A
gi|2739589293|pdb|8Y2H|H

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