clk2[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
nsv3897603	copy number variation	1	nstd102	human	Benign	GRCh37 chr16: 1,544,520-1,551,082 , GRCh38.p12 chr16: 1,494,519-1,501,081	TELO2
nsv7094812	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 1,550,077-1,553,023 , GRCh38.p12 chr16: 1,500,076-1,503,022	TELO2
nsv7094557	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 1,555,391-1,555,622 , GRCh38.p12 chr16: 1,505,390-1,505,621	TELO2
nsv7094755	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 1,544,283-1,547,529 , GRCh38.p12 chr16: 1,494,282-1,497,528	TELO2
nsv4349655	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 1,557,663-1,561,126 , GRCh38.p12 chr16: 1,507,662-1,511,125	IFT140, TELO2
nsv3904295	copy number variation	1	nstd102	human	Benign	GRCh37 chr16: 1,537,391-1,569,405 , GRCh38.p12 chr16: 1,487,390-1,519,404	TELO2, IFT140, 1 more genes
nsv4681361	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 1,535,940-1,561,151 , GRCh38.p12 chr16: 1,485,939-1,511,150	IFT140, TELO2, 1 more genes
nsv7094811	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 1,496,632-1,561,171 , GRCh38.p12 chr16: 1,446,631-1,511,170	IFT140, CLCN7, 3 more genes
nsv6315131	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 1,560,427-1,607,935 , GRCh38.p12 chr16: 1,510,426-1,557,934	IFT140, TMEM204, 1 more genes
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	CLK2, CRB1, 1608 more genes
nsv4455594	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-2,053,328 , GRCh38.p12 chr16: 35,880-2,003,327	JPT2, TSR3, 128 more genes
nsv3919589	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr16: 36,766-1,987,584 , GRCh37 chr16: 96,766-2,047,583 , GRCh38 chr16: 46,766-1,997,582	C1QTNF8, MRPL28, 127 more genes
nsv3914731	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 46,722-1,867,327 , NCBI36 chr16: 36,722-1,857,329 , GRCh37 chr16: 96,722-1,917,328	TPSP2, RPUSD1, 110 more genes
nsv3897602	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 85,880-1,875,694 , GRCh38.p12 chr16: 35,880-1,825,693	CHTF18, CAPN15, 110 more genes
nsv3919625	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 23,141-1,773,349 , NCBI36 chr16: 13,141-1,763,351 , GRCh37 chr16: 73,141-1,823,350	RHOT2, STUB1, 106 more genes
nsv3916129	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr16: 13,141-1,702,525 , GRCh38 chr16: 23,141-1,712,523 , GRCh37 chr16: 73,141-1,762,524	C4orf46P1, UBE2I, 102 more genes
nsv3906615	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 88,165-1,715,454 , GRCh38.p12 chr16: 38,165-1,665,453	LOC105371046, TJP1P1, 97 more genes
nsv3890088	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 61,451-1,593,645 , GRCh38.p12 chr16: 11,451-1,543,644	CACNA1H, HBAP1, 100 more genes
nsv4683390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 624,055-2,148,005 , GRCh38.p12 chr16: 574,055-2,098,004	MRPS34, HAGHL, 102 more genes
nsv3920214	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 46,766-1,544,014 , NCBI36 chr16: 36,766-1,534,016 , GRCh37 chr16: 96,766-1,594,015	CIAO3, SNRNP25, 95 more genes

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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 80

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Number of Variants: 20

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