prkaa1[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
nsv3880747	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr5: 40,779,130-40,785,601 , GRCh37 chr5: 40,779,232-40,785,703	PRKAA1
nsv3889848	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719	PRKAA1, MEGF10, 2080 more genes
nsv3886374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 13,648-180,905,029 , GRCh38.p12 chr5: 13,648-181,478,028	PRKAA1, LOC105374618, 2499 more genes
nsv3871533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 25,328-180,693,344 , GRCh38.p12 chr5: 25,329-181,266,343	PRKAA1, PCDHGC5, 2492 more genes
nsv3875235	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 113,577-180,719,789 , GRCh38.p12 chr5: 113,462-181,292,788	PRKAA1, SPEF2, 2490 more genes
nsv3911585	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 75,149-73,744,306 , GRCh38 chr5: 22,149-74,412,725 , GRCh37 chr5: 22,149-73,708,550	PRKAA1, LINC02241, 878 more genes
nsv3923992	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 50,093-46,115,086 , NCBI36 chr5: 103,093-46,150,843 , GRCh38 chr5: 49,978-46,114,984	PRKAA1, LOC100130748, 533 more genes
nsv3911295	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 54,954-45,649,963 , NCBI36 chr5: 107,954-45,685,720 , GRCh38 chr5: 54,839-45,649,861	PRKAA1, PMCHL1, 532 more genes
nsv3882526	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 13,461,664-46,098,927 , GRCh38.p12 chr5: 13,461,554-46,098,825	PRKAA1, TPT1P5, 351 more genes
nsv3920391	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr5: 35,201,559-61,903,141 , GRCh37 chr5: 35,201,661-61,198,968 , NCBI36 chr5: 35,237,418-61,234,725	PRKAA1, KRT18P56, 290 more genes
nsv6313864	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 26,382,110-46,389,339 , GRCh38.p12 chr5: 26,382,001-46,389,237	PRKAA1, LOC107986346, 227 more genes
nsv3875357	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 27,227,243-45,685,844 , GRCh38.p12 chr5: 27,227,136-45,685,742	PRKAA1, MRPS30, 224 more genes
nsv6636973	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 29,348,753-46,389,339 , GRCh38.p12 chr5: 29,348,646-46,389,237	PRKAA1, SUB1, 210 more genes
nsv5381781	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 29,081,195-45,294,031 , GRCh38.p12 chr5: 29,081,088-45,293,929	PRKAA1, ST3GAL5P1, 213 more genes
nsv3916709	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 36,374,209-50,399,675 , NCBI36 chr5: 36,409,966-50,435,432 , GRCh38 chr5: 36,374,107-51,103,841	PRKAA1, SLC1A3-AS1, 126 more genes
nsv3873925	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 31,351,588-43,480,111 , GRCh38.p12 chr5: 31,351,481-43,480,009	PRKAA1, CCDC152, 176 more genes
nsv4456866	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 34,453,883-46,389,339 , GRCh38.p12 chr5: 34,453,778-46,389,237	PRKAA1, LOC100506639, 146 more genes
nsv4674231	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 38,432,180-49,441,945 , GRCh38.p12 chr5: 38,432,078-50,146,111	PRKAA1, RPSAP38, 92 more genes
nsv6112768	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 34,984,696-46,405,042 , GRCh38.p12 chr5: 34,984,591-46,404,940	PRKAA1, LIFR-AS1, 137 more genes
nsv6315368	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 36,053,583-46,389,339 , GRCh38.p12 chr5: 36,053,481-46,389,237	PRKAA1, C7, 128 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 24

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Number of Variants: 20

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