butenolide phosphate - 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
nsv7096394	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,421,433-211,473,293 , GRCh38.p12 chr2: 210,556,709-210,608,569	CPS1
nsv7096232	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,507,198-211,515,172 , GRCh38.p12 chr2: 210,642,474-210,650,448	CPS1
nsv7096128	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,469,816-211,477,027 , GRCh38.p12 chr2: 210,605,092-210,612,303	CPS1
nsv4682264	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 118,895,610-118,900,089 , GRCh38.p12 chr11: 119,024,900-119,029,379 , GRCh38.p12 chr11\|NW_009646203.1: 46,500-50,978	SLC37A4
nsv4681850	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 34,645,556-34,649,571 , GRCh38.p12 chr9: 34,645,559-34,649,574	GALT
nsv4681838	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 34,645,556-34,648,911 , GRCh38.p12 chr9: 34,645,559-34,648,914	GALT
nsv4684120	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 34,645,661-34,648,822 , GRCh38 chr9: 34,645,664-34,648,825	GALT
nsv4578507	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 34,647,752-34,649,645 , GRCh38 chr9: 34,647,755-34,649,648	GALT
nsv4453910	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 118,898,884-118,900,099 , GRCh38 chr11: 119,028,174-119,029,389	SLC37A4
nsv6311633	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,512,577-211,513,274 , GRCh38.p12 chr2: 210,647,853-210,648,550	CPS1
nsv6634501	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 25,657,344-25,657,529 , GRCh38 chr4: 25,655,722-25,655,907	SLC34A2
nsv5672551	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 118,899,922-118,900,089 , GRCh38.p12 chr11: 119,029,212-119,029,379 , GRCh38.p12 chr11\|NW_009646203.1: 50,811-50,978	SLC37A4
nsv5673215	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,421,433-211,421,593 , GRCh38.p12 chr2: 210,556,709-210,556,869	CPS1
nsv7096606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,456,088-211,479,828 , GRCh38.p12 chr2: 210,591,364-210,615,104	CPS1
nsv6315283	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 211,507,390-211,513,223 , GRCh38.p12 chr2: 210,642,666-210,648,499	CPS1
nsv7098790	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 118,971,849-118,972,786 , GRCh38.p12 chr11: 119,101,139-119,102,076	DPAGT1
nsv7093050	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 211,523,321-211,524,166 , GRCh38 chr2: 210,658,597-210,659,442	CPS1
nsv6311368	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 211,454,820-211,455,640 , GRCh38.p12 chr2: 210,590,096-210,590,916	CPS1
nsv4683418	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 211,523,303-211,542,729 , GRCh38.p12 chr2: 210,658,579-210,678,005	CPS1
nsv7096231	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 211,503,854-211,503,959 , GRCh38.p12 chr2: 210,639,130-210,639,235	CPS1

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

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Study Type

Subject Phenotype Status

Additional filters

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Items: 1 to 20 of 48

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Number of Variants: 20

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