mrpl53[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 19

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	MRPL53, 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	MRPL53, CYP1B1-AS1, 1649 more genes
nsv3877742	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 74,365,484-89,129,064 , GRCh38.p12 chr2: 74,138,357-88,829,551	MRPL53, RNU6-561P, 253 more genes
nsv3886532	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 74,527,522-89,125,488 , GRCh38.p12 chr2: 74,300,395-88,825,975	MRPL53, RNU6-561P, 249 more genes
nsv7096902	copy number variation	3	nstd102	human	Pathogenic	GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634	MRPL53, TAF13P2, 100 more genes
nsv7096907	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 72,359,356-74,779,761 , GRCh38.p12 chr2: 72,132,227-74,552,634	MRPL53, RNU6-111P, 71 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	MRPL53, 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	MRPL53, 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	MRPL53, 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	MRPL53, 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	MRPL53, 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	MRPL53, 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	MRPL53, 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	MRPL53, ACTG2, 1713 more genes
nsv3909450	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr2: 74,456,414-75,598,154 , GRCh37 chr2: 74,602,906-75,744,646 , GRCh38 chr2: 74,375,779-75,517,520	MRPL53, AUP1, 39 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	MRPL53, LOC101927723, 1246 more genes
nsv7098872	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 73,716,761-75,347,894 , GRCh38.p12 chr2: 73,489,634-75,120,768	MRPL53, RTKN, 61 more genes
nsv7096520	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634	MRPL53, LOC112268419, 140 more genes
nsv3893335	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 74,659,196-75,408,753 , GRCh38 chr2: 74,432,069-75,181,627 , NCBI36 chr2: 74,512,704-75,262,261	MRPL53, TTC31, 30 more genes

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