alpk2[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
nsv3902831	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 46,177,798-78,014,123 , GRCh38.p12 chr18: 48,651,427-80,256,240	ALPK2, LOC105372180, 370 more genes
nsv3906152	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 46,942,427-78,014,123 , GRCh38.p12 chr18: 49,416,057-80,256,240	ALPK2, RPL17P44, 360 more genes
nsv3909519	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 47,656,799-78,014,123 , GRCh38.p12 chr18: 50,130,429-80,256,240	ALPK2, LOC105372160, 339 more genes
nsv3920508	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr18: 51,167,159-80,256,240 , GRCh37 chr18: 48,693,529-78,014,123 , NCBI36 chr18: 46,947,527-76,115,097	ALPK2, LOC105372152, 319 more genes
nsv3916196	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 48,716,799-78,010,032 , GRCh38 chr18: 51,190,429-80,252,149 , NCBI36 chr18: 46,970,797-76,111,023	ALPK2, LOC105372200, 319 more genes
nsv4676105	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 49,460,596-78,014,123 , GRCh38.p12 chr18: 51,934,226-80,256,240	ALPK2, MIR548AV, 310 more genes
nsv3914571	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 49,947,422-78,012,829 , NCBI36 chr18: 48,201,420-76,113,817 , GRCh38 chr18: 52,421,052-80,254,946	ALPK2, RPS2P6, 308 more genes
nsv3918507	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr18: 53,865,057-80,252,149 , GRCh37 chr18: 51,391,427-78,010,032 , NCBI36 chr18: 49,645,425-76,111,023	ALPK2, NETO1, 303 more genes
nsv6314216	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 52,675,201-78,014,123 , GRCh38.p12 chr18: 55,007,970-80,256,240	ALPK2, RNA5SP461, 290 more genes
nsv3899425	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 52,802,515-78,015,180 , GRCh38.p12 chr18: 55,135,284-80,257,297	ALPK2, ZNF236-DT, 288 more genes
nsv3918008	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 52,846,595-78,012,829 , GRCh38 chr18: 55,179,364-80,254,946 , NCBI36 chr18: 50,997,593-76,113,817	ALPK2, LOC102725148, 287 more genes
nsv3903916	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 52,837,852-77,989,426 , GRCh38.p12 chr18: 55,170,621-80,231,543	ALPK2, CBLN2, 287 more genes
nsv3900769	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 53,100,584-78,014,123 , GRCh38.p12 chr18: 55,433,353-80,256,240	ALPK2, LOC105372130, 287 more genes
nsv6314188	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 53,309,113-78,014,123 , GRCh38.p12 chr18: 55,641,882-80,256,240	ALPK2, ZNF236-DT, 282 more genes
nsv6637467	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 53,624,405-78,014,123 , GRCh38.p12 chr18: 55,957,174-80,256,240	ALPK2, RPL9P31, 277 more genes
nsv3919243	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr18: 56,353,040-80,209,986 , GRCh37 chr18: 54,020,271-77,967,869 , NCBI36 chr18: 52,171,269-76,068,860	ALPK2, LINC02565, 272 more genes
nsv3912580	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr18: 52,436,267-76,111,023 , GRCh37 chr18: 54,285,269-78,010,032 , GRCh38 chr18: 56,618,038-80,252,149	ALPK2, ZNF407, 271 more genes
nsv6112815	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 54,285,235-77,960,815 , GRCh38.p12 chr18: 56,618,004-80,202,932	ALPK2, RPL31P9, 271 more genes
nsv3907453	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 54,462,182-78,014,123 , GRCh38.p12 chr18: 56,794,951-80,256,240	ALPK2, CPLX4, 270 more genes
nsv3922747	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr18: 53,027,645-76,117,153 , GRCh37.p13 chr18: 54,876,647-78,016,181 , GRCh38.p12 chr18: 57,209,416-80,258,298	ALPK2, VPS4B, 264 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 72

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Number of Variants: 20

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