tuft1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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

Search results

Items: 11

loading data ...

Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
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	TUFT1, CRB1, 1608 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	TUFT1, MARK1, 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	TUFT1, SNAP47, 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	TUFT1, RNU1-153P, 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	TUFT1, LOC101060227, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	TUFT1, HORMAD1, 923 more genes
nsv3877540	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310	TUFT1, LCE1F, 197 more genes
nsv3907566	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 149,228,433-149,823,877 , GRCh37 chr1: 150,961,809-151,557,253 , GRCh38 chr1: 150,989,333-151,584,777	TUFT1, PI4KB, 31 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	TUFT1, DCST1, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	TUFT1, PRPF3, 352 more genes
nsv5381206	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 151,122,490-151,585,008 , GRCh38.p12 chr1: 151,150,014-151,612,532	TUFT1, CGN, 21 more genes

Supplemental Content

Filters: Manage Filters

Find related data

Search details

Recent activity

Clear Turn Off Turn On

tuft1[All Fields] AND 1[has_clinical] (12)
dbVar
12422[HGNC] (41)
ClinVar

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)