en1[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
nsv3904137	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr2: 119,257,577-119,469,146 , GRCh37 chr2: 119,541,107-119,752,676 , GRCh38 chr2: 118,783,531-118,995,100	EN1, MARCO
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	EN1, DAZAP2P1, 2991 more genes
nsv3894414	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 118,843,900-135,722,308 , GRCh38 chr2: 118,086,324-134,964,738 , NCBI36 chr2: 118,560,370-135,438,778	EN1, RHOQP2, 287 more genes
nsv3873957	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 109,798,247-125,658,380 , GRCh38.p12 chr2: 109,181,791-124,900,803	EN1, MTND1P28, 230 more genes
nsv6313770	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 113,188,197-128,144,700 , GRCh38.p12 chr2: 112,430,620-127,387,124	EN1, LOC105373575, 174 more genes
nsv3892279	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130	EN1, MAP3K2, 144 more genes
nsv3921001	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 115,444,912-126,178,935 , GRCh37.p13 chr2: 115,728,442-126,462,465 , GRCh38.p12 chr2: 114,970,865-125,704,888	EN1, RPL27P7, 94 more genes
nsv3889486	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 114,707,932-124,328,692 , GRCh38.p12 chr2: 113,950,355-123,571,116	EN1, LOC107985817, 91 more genes
nsv3873783	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 114,056,441-123,673,800 , GRCh38.p12 chr2: 113,298,864-122,916,224	EN1, INHBB, 111 more genes
nsv3880973	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 117,070,953-126,303,416 , GRCh38.p12 chr2: 116,313,377-125,545,839	EN1, LOC105373585, 86 more genes
nsv4674710	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 118,872,395-128,069,813 , GRCh38.p12 chr2: 118,114,819-127,312,237	EN1, C2orf76, 89 more genes
nsv3879351	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 116,754,600-123,897,370 , GRCh38.p12 chr2: 115,997,024-123,139,794	EN1, LOC107985815, 78 more genes
nsv6636871	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 116,761,476-123,897,262 , GRCh38.p12 chr2: 116,003,900-123,139,686	EN1, LOC105373578, 78 more genes
nsv4674062	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 115,416,190-122,399,064 , GRCh38.p12 chr2: 114,658,613-121,641,488	EN1, DPP10-AS3, 71 more genes
nsv4674739	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 118,903,294-123,099,547 , GRCh38.p12 chr2: 118,145,718-122,341,971	EN1, LOC101927709, 55 more genes
nsv3895925	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 119,161,875-122,095,860 , GRCh37 chr2: 119,445,405-122,379,390 , GRCh38 chr2: 118,687,829-121,621,814	EN1, TMEM177, 41 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	EN1, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	EN1, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	EN1, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	EN1, MTND2P22, 3724 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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