rph3a[All Fields] AND 1[has_clinical] - dbVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

loading data ...

Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3894741	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 113,011,825-113,020,057 , GRCh38.p12 chr12: 112,574,021-112,582,253	RPH3A
nsv3898147	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 113,012,622-113,020,057 , GRCh38.p12 chr12: 112,574,818-112,582,253	RPH3A
nsv3901138	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 113,012,673-113,020,057 , GRCh38.p12 chr12: 112,574,869-112,582,253	RPH3A
nsv3907318	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 113,019,478-113,020,057 , GRCh38.p12 chr12: 112,581,674-112,582,253	RPH3A
nsv3916180	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 111,225,617-111,598,714 , GRCh37 chr12: 112,741,234-113,114,331 , GRCh38 chr12: 112,303,430-112,676,526	RPH3A, PTPN11, 3 more genes
nsv6309391	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 113,120,652-115,362,584 , GRCh38.p12 chr12: 112,682,847-114,924,779	RPH3A, LOC105369993, 41 more genes
nsv3924221	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 111,229,719-111,645,155 , GRCh38 chr12: 112,307,532-112,722,967 , GRCh37 chr12: 112,745,336-113,160,772	RPH3A, PTPN11, 4 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	RPH3A, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	RPH3A, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	RPH3A, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	RPH3A, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	RPH3A, OR5BT1P, 2441 more genes
nsv6634419	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 112,998,335-113,510,817 , GRCh38.p12 chr12: 112,560,531-113,073,012	RPH3A, MIR1302-1, 6 more genes
nsv6291789	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 112,731,318-113,145,852 , GRCh38.p12 chr12: 112,293,514-112,708,047	RPH3A, LOC100421482, 5 more genes

Supplemental Content

Filters: Manage Filters

Find related data

Search details

Recent activity

Clear Turn Off Turn On

rph3a[All Fields] AND 1[has_clinical] (15)
dbVar
Fibrosarcomatous Dermatofibrosarcoma Protuberans
Fibrosarcomatous Dermatofibrosarcoma Protuberans

MedGen
C3665732[conceptid] (1)
MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)