unc50[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 19

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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	UNC50, 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	UNC50, CYP1B1-AS1, 1649 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	UNC50, 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	UNC50, 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	UNC50, 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	UNC50, MTND2P22, 3724 more genes
nsv3876227	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 96,353,030-114,045,463 , GRCh38.p12 chr2: 95,687,282-113,287,886	UNC50, RNU4-8P, 346 more genes
nsv3902899	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 94,707,984-111,076,455 , GRCh38 chr2: 94,678,532-110,602,409 , GRCh37 chr2: 95,344,257-111,359,986	UNC50, MTCO3P45, 325 more genes
nsv3877583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 95,529,039-108,518,266 , GRCh38.p12 chr2: 94,863,294-107,901,810	UNC50, RPL27AP4, 242 more genes
nsv3907326	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 97,672,522-110,211,318 , GRCh37 chr2: 98,288,985-110,968,895 , NCBI36 chr2: 97,655,417-110,326,184	UNC50, RPL22P11, 212 more genes
nsv3906654	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 91,443,218-102,334,856 , NCBI36 chr2: 90,981,410-102,317,748 , GRCh37 chr2: 91,617,683-102,951,316	UNC50, CHEK2P3, 197 more genes
nsv3899291	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 95,618,109-103,868,854 , GRCh38 chr2: 94,817,406-103,252,396 , NCBI36 chr2: 94,846,878-103,235,286	UNC50, IGKV2OR2-10, 178 more genes
nsv3889077	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 95,691,600-100,587,394 , GRCh38.p12 chr2: 95,025,855-99,970,932	UNC50, TMEM127, 114 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	UNC50, ACTG2, 1713 more genes
nsv3895049	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr2: 98,394,668-101,619,801 , GRCh37 chr2: 99,028,236-102,253,369 , GRCh38 chr2: 98,411,773-101,636,907	UNC50, INPP4A, 59 more genes
nsv6636315	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052	UNC50, ADRA2B, 130 more genes
nsv3922919	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr2: 98,458,890-99,001,125 , GRCh37.p13 chr2: 99,092,458-99,634,693 , GRCh38.p12 chr2: 98,475,995-99,018,230	UNC50, INPP4A, 9 more genes
nsv3879354	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 95,518,497-107,186,127 , GRCh38.p12 chr2: 94,852,752-106,569,671	UNC50, CD8B2, 231 more genes
nsv3894079	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr2: 95,337,458-99,072,953 , GRCh37 chr2: 96,003,206-99,689,416 , NCBI36 chr2: 95,366,933-99,055,848	UNC50, C2orf92, 92 more genes

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