smn1[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
nsv5673749	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 70,232,101-70,241,078 , GRCh38 chr5: 70,936,274-70,945,251	SMN1
nsv5059947	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 70,241,893-70,247,818 , GRCh38 chr5: 70,946,066-70,951,991	SMN1
nsv3884155	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr5: 70,951,921-70,952,011 , GRCh37 chr5: 70,247,748-70,247,838	SMN1
nsv4451221	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr5: 70,951,931-70,952,001 , GRCh37 chr5: 70,247,758-70,247,828	SMN1
nsv3883356	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 70,247,768-70,247,818 , GRCh38 chr5: 70,951,941-70,951,991	SMN1
nsv4768367	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 70,247,768-70,248,841 , GRCh38.p12 chr5\|NW_003315917.2: 457,777-458,850 , GRCh38.p12 chr5: 70,951,941-70,953,014 , GRCh38.p12 chr5\|NT_187651.1: 500,373-501,446	SMN1, GUSBP15
nsv4682641	copy number variation	2	nstd102	human	Pathogenic, Likely benign	GRCh37 chr5: 70,247,739-70,247,821 , GRCh38.p12 chr5: 70,951,912-70,951,994 , GRCh38.p12 chr5\|NT_187651.1: 500,344-500,426 , GRCh38.p12 chr5\|NW_003315917.2: 458,797-458,879	SMN1, GUSBP15
nsv4684249	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 70,247,768-70,247,821 , GRCh38.p12 chr5\|NT_187651.1: 500,373-500,426 , GRCh38.p12 chr5: 70,951,941-70,951,994 , GRCh38.p12 chr5\|NW_003315917.2: 458,797-458,850	SMN1, GUSBP15
nsv6290272	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 70,247,768-70,247,818 , GRCh38.p12 chr5: 70,951,941-70,951,991 , GRCh38.p12 chr5\|NT_187651.1: 500,373-500,423 , GRCh38.p12 chr5\|NW_003315917.2: 458,800-458,850	SMN1, GUSBP15
nsv3972103	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr5: 70,247,762-70,248,513 , GRCh38.p12 chr5: 70,951,935-70,952,686 , GRCh38.p12 chr5\|NT_187651.1: 500,367-501,118 , GRCh38.p12 chr5\|NW_003315917.2: 458,105-458,856	SMN1, GUSBP15
nsv7097287	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr5: 70,247,758-70,247,828 , GRCh38.p12 chr5: 70,951,931-70,952,001 , GRCh38.p12 chr5\|NT_187651.1: 500,363-500,433 , GRCh38.p12 chr5\|NW_003315917.2: 458,790-458,860	SMN1, GUSBP15
nsv6112727	copy number variation	1	nstd102	human	not provided	GRCh37 chr5: 70,220,768-70,247,953 , GRCh38.p12 chr5: 70,924,941-70,952,126 , GRCh38.p12 chr5\|NT_187651.1: 473,376-500,558 , GRCh38.p12 chr5\|NW_003315917.2: 458,665-485,846	SMN1, GUSBP15
nsv3879498	copy number variation	1	nstd102	human	Benign	GRCh37 chr5: 70,150,001-70,220,000 , GRCh38 chr5: 70,854,176-70,924,175	SMN1, SERF1A, 3 more genes
nsv3889848	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719	SMN1, MEGF10, 2080 more genes
nsv6313676	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 64,049,692-70,306,646 , GRCh38.p12 chr5: 64,753,865-71,010,819	SMN1, BCL9P1, 105 more genes
nsv3886374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 13,648-180,905,029 , GRCh38.p12 chr5: 13,648-181,478,028	SMN1, LOC105374618, 2499 more genes
nsv3871533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 25,328-180,693,344 , GRCh38.p12 chr5: 25,329-181,266,343	SMN1, PCDHGC5, 2492 more genes
nsv3875235	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 113,577-180,719,789 , GRCh38.p12 chr5: 113,462-181,292,788	SMN1, SPEF2, 2490 more genes
nsv3911585	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 75,149-73,744,306 , GRCh38 chr5: 22,149-74,412,725 , GRCh37 chr5: 22,149-73,708,550	SMN1, LINC02241, 878 more genes
nsv4578696	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr5: 58,780,641-73,523,380 , GRCh37.p13 chr5: 58,076,468-72,819,205	SMN1, TRIM23, 215 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 127

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Number of Variants: 20

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