srp54[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
nsv3901804	copy number variation	1	nstd102	human	Benign	GRCh37 chr14: 35,428,892-35,435,651 , GRCh38.p12 chr14: 34,959,686-34,966,445	SRP54-AS1
nsv7093467	insertion	1	nstd102	human	Uncertain significance	GRCh38 chr14: 35,011,659-35,011,659 , GRCh37 chr14: 35,480,865-35,480,865	SRP54
nsv6291765	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 35,438,691-35,504,578 , GRCh38.p12 chr14: 34,969,485-35,035,372	SRP54, SRP54-AS1
nsv6314715	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 21,162,263-50,713,602 , GRCh38.p12 chr14: 20,694,104-50,246,884	SRP54, HNRNPC, 616 more genes
nsv3916277	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr14: 19,734,944-44,823,755 , GRCh38 chr14: 20,196,945-45,284,802 , GRCh37 chr14: 20,665,104-45,754,005	SRP54, MIR208B, 600 more genes
nsv3917157	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 24,018,169-42,452,605 , GRCh38 chr14: 23,548,960-41,983,402 , NCBI36 chr14: 23,088,009-41,522,355	SRP54, LINC02300, 274 more genes
nsv3916173	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr14: 33,118,898-48,418,573 , GRCh37.p13 chr14: 34,049,147-49,348,823 , GRCh38.p12 chr14: 33,579,941-48,879,620	SRP54, TTC6, 178 more genes
nsv3924751	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 31,261,477-45,154,334 , GRCh38 chr14: 30,792,271-44,685,131 , NCBI36 chr14: 30,331,228-44,224,084	SRP54, DNAJC8P1, 171 more genes
nsv5381757	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 33,608,925-44,570,367 , GRCh38.p12 chr14: 33,139,719-44,101,164	SRP54, RPLP0P3, 131 more genes
nsv3912278	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 33,880,412-42,359,485 , NCBI36 chr14: 33,419,369-41,898,438 , GRCh37 chr14: 34,349,618-42,828,688	SRP54, RPL23AP8, 120 more genes
nsv3922917	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 30,851,760-38,181,546 , NCBI36 chr14: 29,921,511-37,251,297 , GRCh38 chr14: 30,382,554-37,712,341	SRP54, MBIP, 124 more genes
nsv7093397	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 34,904,407-36,784,136 , GRCh38.p12 chr14: 34,435,201-36,314,930	SRP54, DPRXP3, 51 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	SRP54, 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	SRP54, 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	SRP54, 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	SRP54, 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	SRP54, 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	SRP54, 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	SRP54, MIR656, 1918 more genes
nsv3913204	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,672-49,111,245 , GRCh38 chr14: 20,043,513-48,642,042 , NCBI36 chr14: 19,581,512-48,180,995	SRP54, SMARCE1P3, 635 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 31

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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