myo1a[All Fields] AND 1[has_clinical] - dbVar - NCBI

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

Search results

Items: 9

loading data ...

Number of Variants: 9

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3911302	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 57,013,355-63,042,498 , NCBI36 chr12: 55,693,406-61,722,545 , GRCh37 chr12: 57,407,139-63,436,278	MYO1A, CTDSP2, 97 more genes
nsv3910298	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 57,434,942-60,667,715 , GRCh38 chr12: 57,041,158-60,273,934 , NCBI36 chr12: 55,721,209-58,953,982	MYO1A, MARS1, 72 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	MYO1A, 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	MYO1A, 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	MYO1A, 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	MYO1A, 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	MYO1A, OR5BT1P, 2441 more genes
nsv4675143	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523	MYO1A, OR6C71P, 183 more genes
nsv7098889	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 57,064,059-59,314,016 , GRCh38.p12 chr12: 56,670,275-58,920,235	MYO1A, CDK4, 77 more genes

Supplemental Content

Filters: Manage Filters

Find related data

Search details

Recent activity

Clear Turn Off Turn On

myo1a[All Fields] AND 1[has_clinical] (10)
dbVar

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)