plekha5[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
nsv6634456	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 10,853,887-24,103,810 , GRCh38.p12 chr12: 10,701,288-23,950,876	PLEKHA5, TAS2R15P, 209 more genes
nsv4456793	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 16,141,429-27,733,325 , GRCh38.p12 chr12: 15,988,495-27,580,392	PLEKHA5, PDE3A, 133 more genes
nsv3915489	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 19,340,049-27,056,760 , GRCh38 chr12: 19,295,848-27,012,560 , GRCh37 chr12: 19,448,782-27,165,493	PLEKHA5, INTS13, 97 more genes
nsv3914327	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 15,993,788-22,174,586 , GRCh38 chr12: 15,840,854-22,021,652 , NCBI36 chr12: 15,885,055-22,065,853	PLEKHA5, LOC105369689, 69 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	PLEKHA5, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	PLEKHA5, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	PLEKHA5, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	PLEKHA5, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	PLEKHA5, OR5BT1P, 2441 more genes
nsv3914427	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 18,636-36,150,744 , GRCh37.p13 chr12: 148,375-37,864,477 , GRCh38.p12 chr12: 43,334-37,470,675	PLEKHA5, LOC105369667, 684 more genes
nsv3905633	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 173,786-37,869,301 , GRCh38.p12 chr12: 64,620-37,475,499	PLEKHA5, RESF1, 684 more genes
nsv3897151	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 173,786-37,869,107 , GRCh38.p12 chr12: 64,620-37,475,305	PLEKHA5, CACNA2D4, 684 more genes
nsv4674941	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499	PLEKHA5, LOC105376675, 682 more genes
nsv3924262	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 173,786-34,835,837 , GRCh38 chr12: 64,620-34,682,902 , NCBI36 chr12: 44,047-34,727,104	PLEKHA5, ENO2, 684 more genes
nsv3901714	copy number variation	3	nstd102	human	Pathogenic	GRCh37 chr12: 173,786-34,835,837 , GRCh38.p12 chr12: 64,620-34,682,902	PLEKHA5, LOC105369677, 684 more genes
nsv3911928	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 282,465-34,761,006 , GRCh38 chr12: 54,427-34,608,071 , NCBI36 chr12: 33,854-34,652,273	PLEKHA5, IFT57P1, 684 more genes
nsv3907734	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 189,578-34,756,150 , GRCh38.p12 chr12: 80,412-34,603,215	PLEKHA5, ACRBP, 684 more genes
nsv3914149	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 121,255-34,603,274 , NCBI36 chr12: 100,682-34,647,476 , GRCh37 chr12: 282,465-34,756,209	PLEKHA5, PSMC1P8, 683 more genes
nsv3916135	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 121,271-34,603,261 , NCBI36 chr12: 100,698-34,647,463 , GRCh37 chr12: 282,465-34,756,196	PLEKHA5, TAS2R7, 683 more genes
nsv3916538	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 77,187-34,380,176 , GRCh37 chr12: 282,465-34,533,111 , NCBI36 chr12: 56,614-34,424,378	PLEKHA5, A2M, 684 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 36

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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