ACVRLK1 - 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
nsv3885668	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,306,239-52,314,697 , GRCh38.p12 chr12: 51,912,455-51,920,913	ACVRL1
nsv4450114	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 51,912,465-51,920,903 , GRCh37 chr12: 52,306,249-52,314,687	ACVRL1
nsv3889625	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 51,913,539-51,919,135 , GRCh37 chr12: 52,307,323-52,312,919	ACVRL1
nsv3880641	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,307,738-52,312,919 , GRCh38 chr12: 51,913,954-51,919,135	ACVRL1
nsv6309322	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,306,863-52,310,037 , GRCh38.p12 chr12: 51,913,079-51,916,253	ACVRL1
nsv4681732	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,306,873-52,310,027 , GRCh38.p12 chr12: 51,913,089-51,916,243	ACVRL1
nsv3887785	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,314,543-52,317,145 , GRCh38 chr12: 51,920,759-51,923,361	ACVRL1
nsv6309321	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,306,259-52,307,877 , GRCh38.p12 chr12: 51,912,475-51,914,093	ACVRL1
nsv3872686	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 51,913,079-51,913,790 , GRCh37 chr12: 52,306,863-52,307,574	ACVRL1
nsv7094049	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,309,800-52,310,037 , GRCh38.p12 chr12: 51,916,016-51,916,253	ACVRL1
nsv4451046	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,314,475-52,314,687 , GRCh38 chr12: 51,920,691-51,920,903	ACVRL1
nsv3886818	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 51,920,739-51,920,913 , GRCh37 chr12: 52,314,523-52,314,697	ACVRL1
nsv6309417	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,314,523-52,314,677 , GRCh38.p12 chr12: 51,920,739-51,920,893	ACVRL1
nsv4682428	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,306,249-52,306,329 , GRCh38.p12 chr12: 51,912,465-51,912,545	ACVRL1
nsv3071863	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr12: 51,907,418-51,923,361 , GRCh37 chr12: 52,301,202-52,317,145	ACVRL1
nsv6290010	insertion	2	nstd102	human	Pathogenic	GRCh37 chr12: 52,308,281-52,308,281 , GRCh38.p12 chr12: 51,914,497-51,914,497	ACVRL1
nsv6634688	delins	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,306,895-52,306,898 , GRCh38 chr12: 51,913,111-51,913,114	ACVRL1
nsv7094048	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 52,306,259-52,310,037 , GRCh38.p12 chr12: 51,912,475-51,916,253	ACVRL1
nsv6922898	copy number variation	1	nstd229	human		GRCh38 chr12: 51,906,986-51,909,163 , GRCh37.p13 chr12: 52,300,770-52,302,947	ACVRL1
nsv4527552	copy number variation	1	nstd166	human		GRCh37.p13 chr12: 52,301,961-52,302,032 , GRCh38.p12 chr12: 51,908,177-51,908,248	ACVRL1

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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

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Items: 1 to 20 of 124

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Number of Variants: 20

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