otx1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 17

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6636234	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 63,069,112-63,309,986 , GRCh38.p12 chr2: 62,841,977-63,082,851	OTX1, EHBP1-AS1, 2 more genes
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	OTX1, 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	OTX1, CYP1B1-AS1, 1649 more genes
nsv3903187	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 58,112,555-63,692,448 , GRCh38 chr2: 58,031,916-63,611,810 , GRCh37 chr2: 58,259,051-63,838,944	OTX1, RPL31P30, 76 more genes
nsv3904784	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 58,953,678-64,270,970 , GRCh37 chr2: 59,100,174-64,417,466 , GRCh38 chr2: 58,873,039-64,190,332	OTX1, UGP2, 79 more genes
nsv3878609	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 63,234,780-67,908,846 , GRCh38.p12 chr2: 63,007,645-67,681,714	OTX1, LINC02245, 80 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	OTX1, 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	OTX1, 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	OTX1, 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	OTX1, 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	OTX1, 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	OTX1, MIR1285-2, 404 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	OTX1, ACTG2, 1713 more genes
nsv3885478	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 61,701,437-65,731,084 , GRCh38.p12 chr2: 61,474,302-65,503,950	OTX1, MDH1, 80 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	OTX1, LOC101927723, 1246 more genes
nsv5564338	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 62,991,401-64,335,444 , GRCh38.p12 chr2: 62,764,266-64,108,310	OTX1, RPL27P5, 17 more genes
nsv3870949	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 63,050,380-63,473,443 , GRCh38.p12 chr2: 62,823,245-63,246,308	OTX1, LOC107985769, 8 more genes

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