acta1[All Fields] AND 1[has_clinical] - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4683344	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 229,567,236-229,568,872 , GRCh38.p12 chr1: 229,431,489-229,433,125	ACTA1
nsv3883567	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 229,555,499-229,577,325 , GRCh38.p12 chr1: 229,419,752-229,441,578	ACTA1, NUP133
nsv4674115	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061	ACTA1, LOC105373163, 258 more genes
nsv3899452	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 224,439,448-231,074,857 , GRCh37 chr1: 226,372,825-233,008,234 , GRCh38 chr1: 226,185,124-232,872,488	ACTA1, RNA5S10, 178 more genes
nsv3899116	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 223,636,497-228,621,170 , GRCh38 chr1: 225,382,172-230,418,801 , GRCh37 chr1: 225,569,874-230,554,547	ACTA1, ISCA1P2, 146 more genes
nsv6313841	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792	ACTA1, ISCA1P2, 105 more genes
nsv7095514	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 229,567,246-231,413,288 , GRCh38.p12 chr1: 229,431,499-231,277,542	ACTA1, NUP133-DT, 42 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	ACTA1, 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	ACTA1, 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	ACTA1, RNU1-153P, 4887 more genes
nsv4450583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041	ACTA1, RGS18, 1186 more genes
nsv3881012	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801	ACTA1, LOC105372928, 1062 more genes
nsv6634372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485	ACTA1, LOC105373279, 1036 more genes
nsv4674140	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793	ACTA1, RNA5S8, 893 more genes
nsv3897747	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307	ACTA1, RPS18P3, 793 more genes
nsv3890682	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 209,819,552-249,225,312 , NCBI36 chr1: 207,886,175-247,191,935 , GRCh38 chr1: 209,646,207-248,931,113	ACTA1, HLX, 749 more genes
nsv3892818	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 209,963,625-248,918,469 , GRCh37 chr1: 210,136,970-249,212,668 , NCBI36 chr1: 208,203,593-247,179,291	ACTA1, LOC105373046, 740 more genes
nsv4684187	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793	ACTA1, HLX-AS1, 740 more genes
nsv3892503	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 212,263,778-247,179,291 , GRCh38 chr1: 214,023,812-248,918,469 , GRCh37 chr1: 214,197,155-249,212,668	ACTA1, HMGN2P19, 672 more genes
nsv3873236	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 218,252,551-249,224,684 , GRCh38.p12 chr1: 218,079,209-248,930,485	ACTA1, C1orf198, 643 more genes

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

Send to:

Search results

Items: 1 to 20 of 41

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

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 41

Page of 3

Number of Variants: 20

Page of 3

Supplemental Content

Find related data

Search details

Recent activity