"nstd102"[study] AND "ataxia"[Clinical Phenotype] AND "telangiectasia" - 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
nsv6309178	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,352-108,164,214 , GRCh38.p12 chr11: 108,227,625-108,293,487	ATM
nsv5672771	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,114,670-108,164,214 , GRCh38.p12 chr11: 108,243,943-108,293,487	ATM
nsv4682177	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,106,387-108,155,210 , GRCh38.p12 chr11: 108,235,660-108,284,483	ATM
nsv3876006	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,346-108,138,075 , GRCh38.p12 chr11: 108,227,619-108,267,348	ATM
nsv7093823	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,352-108,129,822 , GRCh38.p12 chr11: 108,227,625-108,259,095	ATM
nsv6289906	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 108,151,766-108,183,226 , GRCh37.p13 chr11: 108,022,493-108,053,953	NPAT
nsv6309177	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,352-108,128,343 , GRCh38.p12 chr11: 108,227,625-108,257,616	ATM
nsv6309023	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,352-108,124,786 , GRCh38.p12 chr11: 108,227,625-108,254,059	ATM
nsv3873531	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,171-108,124,564 , GRCh38.p12 chr11: 108,227,444-108,253,837	ATM
nsv4681168	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,119,650-108,143,589 , GRCh38.p12 chr11: 108,248,923-108,272,862	ATM
nsv6309024	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,101,030-108,121,474 , GRCh38.p12 chr11: 108,230,303-108,250,747	ATM
nsv4681526	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,098,352-108,115,763 , GRCh38.p12 chr11: 108,227,625-108,245,036	ATM
nsv7093825	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,137,888-108,155,210 , GRCh38.p12 chr11: 108,267,161-108,284,483	ATM
nsv5672619	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,141,781-108,158,452 , GRCh38.p12 chr11: 108,271,054-108,287,725	ATM
nsv5672773	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,151,710-108,160,538 , GRCh38.p12 chr11: 108,280,983-108,289,811	ATM
nsv3870605	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,151,722-108,160,528 , GRCh38 chr11: 108,280,995-108,289,801	ATM
nsv5672546	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,153,427-108,160,538 , GRCh38.p12 chr11: 108,282,700-108,289,811	ATM
nsv4683523	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,121,418-108,128,343 , GRCh38.p12 chr11: 108,250,691-108,257,616	ATM
nsv4682072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,151,712-108,158,452 , GRCh38.p12 chr11: 108,280,985-108,287,725	ATM
nsv6308946	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 108,111,148-108,117,795 , GRCh38.p12 chr11: 108,240,421-108,247,068	ATM

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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

Search results

Items: 1 to 20 of 208

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Number of Variants: 20

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