cep57[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
nsv7093949	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 95,549,619-95,562,458 , GRCh38.p12 chr11: 95,816,455-95,829,294	CEP57
nsv6309455	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 95,550,941-95,551,077 , GRCh38.p12 chr11: 95,817,777-95,817,913	CEP57
nsv7094116	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 95,523,863-95,564,420 , GRCh38.p12 chr11: 95,790,699-95,831,256	CEP57, MTMR2, 1 more genes
nsv6309241	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 95,523,863-95,569,448 , GRCh38.p12 chr11: 95,790,699-95,836,284	CEP57, MTMR2, 1 more genes
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	CEP57, FAUP4, 2031 more genes
nsv3904761	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 80,053,454-113,316,236 , GRCh38.p12 chr11: 80,342,410-113,445,514	CEP57, RPS6P16, 449 more genes
nsv3913977	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 77,943,882-106,650,146 , GRCh38 chr11: 78,232,836-106,779,420 , NCBI36 chr11: 77,621,530-106,155,356	CEP57, PLS1P1, 349 more genes
nsv3910101	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 87,796,211-113,996,548 , GRCh37.p13 chr11: 88,156,563-114,491,338 , GRCh38.p12 chr11: 88,423,395-114,620,616	CEP57, PHB1P16, 385 more genes
nsv6637396	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 81,478,509-104,667,040 , GRCh38.p12 chr11: 81,767,467-104,796,313	CEP57, LOC107984375, 295 more genes
nsv3921121	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 75,941,754-98,357,960 , NCBI36 chr11: 75,330,446-97,733,898 , GRCh37 chr11: 75,652,798-98,228,688	CEP57, LOC105369441, 296 more genes
nsv3894488	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 88,152,458-109,414,650 , GRCh38.p12 chr11: 88,419,290-109,543,924	CEP57, RNU6-16P, 270 more genes
nsv6313961	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 77,855,209-98,002,445 , GRCh38.p12 chr11: 78,144,163-98,131,717	CEP57, MTND5P38, 252 more genes
nsv3910663	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 91,086,659-109,595,582 , NCBI36 chr11: 90,459,475-108,971,518 , GRCh37 chr11: 90,819,827-109,466,308	CEP57, LOC101060084, 230 more genes
nsv3922508	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 85,242,847-102,920,097 , GRCh37 chr11: 84,953,891-102,738,968 , NCBI36 chr11: 84,631,539-102,296,037	CEP57, AMOTL1, 240 more genes
nsv5672640	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 94,153,285-111,965,700 , GRCh38.p12 chr11: 94,420,119-112,094,976	CEP57, HSPD1P13, 239 more genes
nsv3897292	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 80,318,996-96,116,221 , GRCh38.p12 chr11: 80,607,952-96,383,057	CEP57, FAM181B, 218 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	CEP57, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	CEP57, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	CEP57, IGHMBP2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	CEP57, PYGM, 2125 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 26

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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