rpl13[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
nsv7097298	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 82,491,569-82,554,516 , GRCh38.p12 chr5: 83,195,750-83,258,697	XRCC4, RPL13P9
nsv6309825	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 75,664,320-75,722,716 , GRCh38.p12 chr15: 75,371,979-75,430,375	SIN3A, RPL13P4
nsv3876907	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 176,009,259-176,277,292 , GRCh38.p12 chr1: 176,040,123-176,308,156	RNU2-12P, RPL13P7, 2 more genes
nsv4674070	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 175,926,347-176,214,557 , GRCh38.p12 chr1: 175,957,211-176,245,421	RPL13P7, COP1, 3 more genes
nsv3884600	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 82,355,242-82,603,880 , GRCh38.p12 chr5: 83,059,423-83,308,061	COQ10BP2, TMEM167A, 3 more genes
nsv6291761	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 56,701,425-56,777,707 , GRCh38.p12 chr19: 56,190,056-56,266,338	ZSCAN5DP, ZSCAN5C, 3 more genes
nsv4457837	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr20: 45,350,682-45,499,090 , GRCh38.p12 chr20: 46,722,043-46,870,451	RN7SKP33, SLC2A10, 1 more genes
nsv3907502	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr16: 89,627,121-89,663,620 , GRCh38.p12 chr16: 89,560,713-89,597,212	RPL13, SNORD68, 1 more genes
nsv7096792	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 82,400,739-82,876,253 , GRCh38.p12 chr5: 83,104,920-83,580,434	VCAN, XRCC4, 5 more genes
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	MEGF10, LOC100128407, 2080 more genes
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	CRB1, STX6, 1608 more genes
nsv3916249	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr15: 21,173,967-100,338,915 , GRCh37.p13 chr15: 23,622,526-102,521,392 , GRCh38.p12 chr15: 23,377,379-101,981,189	H3P40, EEF1B2P1, 1616 more genes
nsv3919468	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr15: 26,996,912-100,338,915 , GRCh37.p13 chr15: 29,209,620-102,521,392 , GRCh38.p12 chr15: 28,917,417-101,981,189	RNU6-18P, GOLGA8K, 1442 more genes
nsv7148201	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 93,979,547-124,774,010 , GRCh37.p13 chr3: 93,698,391-124,492,857	NECTIN3, H2BP3, 418 more genes
nsv3918661	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 95,088,205-124,418,220 , GRCh37 chr3: 93,605,515-122,935,530 , GRCh38 chr3: 93,886,671-123,216,683	MTCO2P29, GAP43, 401 more genes
nsv3874431	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 171,990,029-195,086,758 , GRCh38.p12 chr1: 172,020,889-195,117,628	PTGS2, RASAL2-AS1, 307 more genes
nsv3917160	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 95,021,157-118,088,593 , GRCh38 chr3: 93,819,623-116,887,056 , GRCh37 chr3: 93,538,467-116,605,903	ATP6V1A, RPS10P4, 297 more genes
nsv3873192	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 161,676,893-184,071,723 , GRCh38.p12 chr1: 161,707,103-184,102,589	COLGALT2, NOS1AP, 402 more genes
nsv6637224	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 112,234,557-133,668,379 , GRCh38.p12 chr8: 111,222,328-132,656,133	RNU4-37P, LOC100420215, 220 more genes
nsv3904393	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 170,898,861-191,034,539 , GRCh38 chr1: 170,929,720-191,065,409 , NCBI36 chr1: 169,165,485-189,301,162	RPL18P2, KIAA0040, 302 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 582

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Number of Variants: 20

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