eef1aknmt[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
nsv3872759	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 171,749,665-171,755,170 , GRCh38.p12 chr1: 171,780,525-171,786,030	METTL13
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
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
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
nsv3901149	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 168,271,833-185,790,903 , GRCh37 chr1: 170,005,209-187,524,280 , GRCh38 chr1: 170,036,068-187,555,148	RGSL1, RNU6-157P, 296 more genes
nsv3889882	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847	FMO4, RPL30P1, 403 more genes
nsv4346684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189	LINC00626, RN7SL861P, 359 more genes
nsv3901593	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 161,618,937-174,112,781 , GRCh37 chr1: 163,352,313-175,846,158 , GRCh38 chr1: 163,382,523-175,877,022	NME7, LOC105371618, 233 more genes
nsv3894431	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 159,977,321-172,200,915 , GRCh37 chr1: 161,710,697-173,934,292 , GRCh38 chr1: 161,740,907-173,965,154	RPL21P27, LMX1A, 238 more genes
nsv3885424	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 169,873,155-181,823,980 , GRCh38.p12 chr1: 169,904,014-181,854,845	TRUND-NNN7-1, LOC100499223, 210 more genes
nsv3896314	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 169,187,474-178,044,969 , NCBI36 chr1: 167,454,098-176,311,592 , GRCh38 chr1: 169,218,236-178,075,834	RPS26P12, BRINP2, 150 more genes
nsv3904950	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 166,762,832-175,327,423 , NCBI36 chr1: 164,998,693-173,563,182 , GRCh37 chr1: 166,732,069-175,296,559	LINC01681, SELE, 186 more genes
nsv4674768	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480	ATP1B1, RNU6-693P, 156 more genes
nsv3893479	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 166,550,684-173,535,058 , GRCh38 chr1: 168,314,822-175,299,299 , GRCh37 chr1: 168,284,060-175,268,435	GORAB-AS1, FMO4, 147 more genes
nsv3885421	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 169,095,250-175,778,910 , GRCh38.p12 chr1: 169,126,012-175,809,774	ZBTB37, LOC101928628, 130 more genes
nsv6313602	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 167,391,422-171,843,613 , GRCh38.p12 chr1: 167,422,185-171,874,473	DCAF6, SELE, 101 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	MARK1, LINC02766, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	SNAP47, STK40, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	RNU1-153P, MIR3917, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	LOC101060227, LINC01720, 1608 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 30

Page of 2

Number of Variants: 20

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Supplemental Content

Find related data

Search details

Recent activity