astl[All Fields] AND 1[has_clinical] - 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
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	ASTL, DAZAP2P1, 2991 more genes
nsv6634330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419	ASTL, CYP1B1-AS1, 1649 more genes
nsv4452469	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 96,552,903-98,118,115 , GRCh38.p12 chr2: 95,887,155-97,501,652	ASTL, CNNM4, 47 more genes
nsv5381324	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 96,737,083-98,193,473 , GRCh38.p12 chr2: 96,071,335-97,577,010	ASTL, IGKV2OR2-8, 42 more genes
nsv3900766	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 96,073,560-97,513,144 , GRCh37 chr2: 96,739,308-98,066,294 , NCBI36 chr2: 96,103,035-97,496,039	ASTL, CIAO1, 42 more genes
nsv3902782	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 95,879,602-97,285,797 , GRCh37 chr2: 96,545,350-98,013,866 , NCBI36 chr2: 95,909,077-97,380,005	ASTL, SNRNP200, 39 more genes
nsv5381491	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 96,755,045-98,021,592 , GRCh38.p12 chr2: 96,089,297-97,285,797	ASTL, LOC100421288, 34 more genes
nsv3903903	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 96,766,560-98,013,866 , GRCh38 chr2: 96,100,812-97,285,797 , NCBI36 chr2: 96,130,287-97,380,005	ASTL, ANKRD36, 34 more genes
nsv3899027	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 96,103,035-97,092,174 , GRCh37 chr2: 96,739,308-97,728,447 , GRCh38 chr2: 96,073,560-97,062,710	ASTL, LOC105373496, 29 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	ASTL, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	ASTL, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	ASTL, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	ASTL, MTND2P22, 3724 more genes
nsv3876227	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 96,353,030-114,045,463 , GRCh38.p12 chr2: 95,687,282-113,287,886	ASTL, RNU4-8P, 346 more genes
nsv3902899	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 94,707,984-111,076,455 , GRCh38 chr2: 94,678,532-110,602,409 , GRCh37 chr2: 95,344,257-111,359,986	ASTL, MTCO3P45, 325 more genes
nsv3877583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 95,529,039-108,518,266 , GRCh38.p12 chr2: 94,863,294-107,901,810	ASTL, RPL27AP4, 242 more genes
nsv3906654	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 91,443,218-102,334,856 , NCBI36 chr2: 90,981,410-102,317,748 , GRCh37 chr2: 91,617,683-102,951,316	ASTL, CHEK2P3, 197 more genes
nsv3899291	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 95,618,109-103,868,854 , GRCh38 chr2: 94,817,406-103,252,396 , NCBI36 chr2: 94,846,878-103,235,286	ASTL, IGKV2OR2-10, 178 more genes
nsv3889077	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 95,691,600-100,587,394 , GRCh38.p12 chr2: 95,025,855-99,970,932	ASTL, TMEM127, 114 more genes
nsv3891473	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	NCBI36 chr2: 95,909,077-97,059,136 , GRCh38 chr2: 95,879,602-97,029,672 , GRCh37 chr2: 96,545,350-97,695,409	ASTL, ADRA2B, 33 more genes

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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

Search results

Items: 1 to 20 of 60

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Number of Variants: 20

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Supplemental Content

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