ppp3r1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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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
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	PPP3R1, DAZAP2P1, 2991 more genes
nsv6634330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419	PPP3R1, CYP1B1-AS1, 1649 more genes
nsv4347438	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 67,491,378-69,679,404 , GRCh38.p12 chr2: 67,264,246-69,452,272	PPP3R1, LINC02831, 38 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	PPP3R1, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	PPP3R1, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	PPP3R1, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	PPP3R1, MTND2P22, 3724 more genes
nsv3916821	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722	PPP3R1, NAGK, 595 more genes
nsv3900298	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 58,506,654-83,814,086 , GRCh38 chr2: 58,279,519-83,586,962 , NCBI36 chr2: 58,360,158-83,667,597	PPP3R1, MIR1285-2, 404 more genes
nsv3883931	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 63,671,346-85,698,002 , GRCh38.p12 chr2: 63,444,212-85,470,879	PPP3R1, LINC01888, 367 more genes
nsv6314726	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196	PPP3R1, ACTG2, 1713 more genes
nsv3903130	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr2: 64,667,733-69,956,947 , GRCh37 chr2: 64,814,229-70,103,443 , GRCh38 chr2: 64,587,095-69,876,311	PPP3R1, ANXA4, 93 more genes
nsv3903805	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899	PPP3R1, LOC101927723, 1246 more genes
nsv7098844	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 65,296,579-71,305,638 , GRCh38.p12 chr2: 65,069,445-71,078,508	PPP3R1, SNRNP27, 121 more genes
nsv6112753	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 68,474,704-68,679,298 , GRCh38.p12 chr2: 68,247,572-68,452,166	PPP3R1, WDR4P2, 5 more genes

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ppp3r1[All Fields] AND 1[has_clinical] (16)
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