otx2[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7094434	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 57,270,959-57,274,875 , GRCh38.p12 chr14: 56,804,241-56,808,157	OTX2
nsv6309550	copy number variation	2	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr14: 57,268,453-57,272,174 , GRCh38.p12 chr14: 56,801,735-56,805,456	OTX2
nsv4449989	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 56,801,715-56,804,383 , GRCh37 chr14: 57,268,433-57,271,101	OTX2
nsv4450789	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 57,268,433-57,269,093 , GRCh38 chr14: 56,801,715-56,802,375	OTX2
nsv3896827	copy number variation	1	nstd102	human	Benign	GRCh37 chr14: 57,309,063-57,435,446 , GRCh38.p12 chr14: 56,842,345-56,968,728	OTX2-AS1
nsv3908541	copy number variation	1	nstd102	human	Benign	GRCh37 chr14: 57,309,063-57,417,427 , GRCh38.p12 chr14: 56,842,345-56,950,709	OTX2-AS1
nsv997211	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr14: 56,800,707-56,810,476 , GRCh37 chr14: 57,267,425-57,277,194	OTX2, OTX2-AS1
nsv4675249	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 57,130,786-57,577,796 , GRCh38.p12 chr14: 56,664,068-57,111,078	OTX2, LOC440180, 5 more genes
nsv6291495	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 57,126,229-57,336,190 , GRCh38.p12 chr14: 56,659,511-56,869,472	OTX2, TMEM260, 4 more genes
nsv4674918	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 56,605,398-59,404,256 , GRCh38.p12 chr14: 56,138,680-58,937,538	OTX2, RNU6-1204P, 42 more genes
nsv4675883	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 55,615,073-58,043,694 , GRCh38.p12 chr14: 55,148,355-57,576,976	OTX2, FBXO34-AS1, 39 more genes
nsv3902883	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,000,422-107,289,053 , GRCh38.p12 chr14: 18,223,945-106,880,863	OTX2, LOC440181, 1998 more genes
nsv3907460	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456	OTX2, BANF1P1, 1996 more genes
nsv3899639	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,327,823-107,287,663 , GRCh38.p12 chr14: 18,551,346-106,879,456	OTX2, LOC100289511, 1996 more genes
nsv3903256	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,794,561-107,234,280 , GRCh38.p12 chr14: 19,652,445-106,826,050	OTX2, DHRS7, 1946 more genes
nsv3919106	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482	OTX2, SRMP2, 1929 more genes
nsv3904265	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,673-107,285,437 , GRCh38.p12 chr14: 20,043,514-106,877,229	OTX2, CRIP1, 1929 more genes
nsv3917422	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 20,151,149-106,855,263 , NCBI36 chr14: 19,689,148-106,334,523 , GRCh37 chr14: 20,619,308-107,263,478	OTX2, MIR656, 1918 more genes
nsv6315524	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013	OTX2, PAPOLA-DT, 1338 more genes
nsv3906941	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 56,559,797-58,063,452 , GRCh38.p12 chr14: 56,093,079-57,596,734	OTX2, EXOC5, 17 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 23

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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