ppp1r1b[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
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	PPP1R1B, 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	PPP1R1B, 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	PPP1R1B, 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	PPP1R1B, 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	PPP1R1B, 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	PPP1R1B, 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	PPP1R1B, 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	PPP1R1B, PLEKHH3, 958 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	PPP1R1B, LOC105371753, 474 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	PPP1R1B, IFI35, 345 more genes
nsv3914774	copy number variation	1	nstd102	human	Likely benign	GRCh38 chr17: 39,036,037-39,694,679 , NCBI36 chr17: 34,445,816-35,104,458 , GRCh37 chr17: 37,192,290-37,850,932	PPP1R1B, CDK12, 23 more genes
nsv3901169	copy number variation	1	nstd102	human	Benign	GRCh37 chr17: 37,387,413-37,879,941 , GRCh38.p12 chr17: 39,231,160-39,723,688	PPP1R1B, PNMT, 13 more genes
nsv3903293	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 36,972,794-38,033,708 , GRCh38.p12 chr17: 38,816,541-39,877,455	PPP1R1B, LASP1NB, 46 more genes
nsv4457589	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 37,190,609-37,868,002 , GRCh38.p12 chr17: 39,034,356-39,711,749	PPP1R1B, ERBB2, 23 more genes
nsv3900050	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 37,313,691-37,868,516 , GRCh38.p12 chr17: 39,157,438-39,712,263	PPP1R1B, LOC101929578, 18 more genes

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ppp1r1b[All Fields] AND 1[has_clinical] (16)
dbVar
thioredoxin reductase 1, cytoplasmic isoform 2 [Mus musculus]
thioredoxin reductase 1, cytoplasmic isoform 2 [Mus musculus]
gi|110224447|ref|NP_001035988.1|

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