isca2[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
nsv7094265	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 74,961,509-74,961,703 , GRCh38.p12 chr14: 74,494,806-74,495,000	ISCA2
nsv5672732	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 74,959,886-74,959,987 , GRCh38.p12 chr14: 74,493,183-74,493,284	ISCA2, NPC2
nsv4683508	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 74,946,967-74,959,987 , GRCh38.p12 chr14: 74,480,264-74,493,284	ISCA2, NPC2, 2 more genes
nsv3923727	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 70,028,816-82,441,728 , GRCh38 chr14: 69,562,099-81,975,384 , NCBI36 chr14: 69,098,569-81,511,481	ISCA2, CEP128, 240 more genes
nsv3923448	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr14: 73,413,528-77,578,518 , GRCh38 chr14: 73,877,072-78,042,422 , GRCh37 chr14: 74,343,775-78,508,765	ISCA2, ZC2HC1C, 113 more genes
nsv3902883	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,000,422-107,289,053 , GRCh38.p12 chr14: 18,223,945-106,880,863	ISCA2, LOC440181, 1998 more genes
nsv3907460	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,280,733-107,287,663 , GRCh38.p12 chr14: 18,504,256-106,879,456	ISCA2, BANF1P1, 1996 more genes
nsv3899639	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,327,823-107,287,663 , GRCh38.p12 chr14: 18,551,346-106,879,456	ISCA2, LOC100289511, 1996 more genes
nsv3903256	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 19,794,561-107,234,280 , GRCh38.p12 chr14: 19,652,445-106,826,050	ISCA2, DHRS7, 1946 more genes
nsv3919106	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482	ISCA2, SRMP2, 1929 more genes
nsv3904265	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 20,511,673-107,285,437 , GRCh38.p12 chr14: 20,043,514-106,877,229	ISCA2, CRIP1, 1929 more genes
nsv3917422	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 20,151,149-106,855,263 , NCBI36 chr14: 19,689,148-106,334,523 , GRCh37 chr14: 20,619,308-107,263,478	ISCA2, MIR656, 1918 more genes
nsv6315524	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013	ISCA2, PAPOLA-DT, 1338 more genes
nsv3898512	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 73,750,741-107,285,437 , GRCh38.p12 chr14: 73,284,033-106,877,229	ISCA2, MEG3, 860 more genes
nsv3922094	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 73,655,772-106,879,298 , GRCh37 chr14: 74,122,475-107,287,505 , NCBI36 chr14: 73,192,228-106,358,550	ISCA2, LOC105370614, 849 more genes
nsv3919051	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr14: 72,879,674-78,371,155 , GRCh37 chr14: 73,809,921-79,301,402 , GRCh38 chr14: 73,343,213-78,835,059	ISCA2, ACYP1, 137 more genes
nsv1398265	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 73,152,115-77,698,582 , GRCh38.p12 chr14: 72,685,407-77,232,239	ISCA2, ACYP1, 125 more genes
nsv4349747	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 74,040,231-76,368,547 , GRCh38.p12 chr14: 73,573,527-75,902,204	ISCA2, ACYP1, 72 more genes
nsv5980451	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321	ISCA2, ACTN1, 400 more genes
nsv6291477	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 74,490,251-75,116,040 , GRCh38.p12 chr14: 74,023,548-74,649,337	ISCA2, RN7SL530P, 19 more genes

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Items: 20

Number of Variants: 20

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