srpk2[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
nsv3905662	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr7: 104,765,173-104,826,194 , GRCh38.p12 chr7: 105,124,726-105,185,747	SRPK2
nsv5674227	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 104,730,300-104,791,108 , GRCh38.p12 chr7: 105,089,853-105,150,661	SRPK2, KMT2E
nsv3898140	copy number variation	1	nstd102	human	Benign	GRCh37 chr7: 104,775,968-105,167,969 , GRCh38.p12 chr7: 105,135,521-105,527,522	SRPK2, PUS7, 3 more genes
nsv3904447	copy number variation	1	nstd102	human	Benign	GRCh37 chr7: 104,913,239-105,138,947 , GRCh38.p12 chr7: 105,272,792-105,498,500	SRPK2, PUS7, 2 more genes
nsv3910083	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr7: 104,826,194-105,152,816 , NCBI36 chr7: 104,613,430-104,940,052 , GRCh38 chr7: 105,185,747-105,512,369	SRPK2, RNU6-1322P, 3 more genes
nsv4455991	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr7: 104,938,668-105,027,246 , GRCh38.p12 chr7: 105,298,221-105,386,799	SRPK2, RNU6-1322P, 1 more genes
nsv4455463	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr7: 104,958,494-105,170,653 , GRCh38.p12 chr7: 105,318,047-105,530,206	SRPK2, RINT1, 3 more genes
nsv3919826	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 54,185-159,075,079 , GRCh38 chr7: 54,185-159,282,390 , NCBI36 chr7: 149,268-158,767,840	SRPK2, RNU6-438P, 2682 more genes
nsv3888815	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 12,258,147-140,494,267 , GRCh38.p12 chr7: 12,218,521-140,794,467	SRPK2, LOC107986817, 2014 more genes
nsv3924380	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 101,912,320-120,918,695 , GRCh38 chr7: 102,196,924-121,278,641 , NCBI36 chr7: 101,626,924-120,705,931	SRPK2, LOC102724434, 222 more genes
nsv6313576	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 100,676,872-119,156,160 , GRCh38.p12 chr7: 101,033,591-119,516,106	SRPK2, LHFPL3-AS2, 233 more genes
nsv6313503	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 99,417,471-111,586,308 , GRCh38.p12 chr7: 99,819,848-111,946,253	SRPK2, GJC3, 237 more genes
nsv3912378	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr7: 101,807,149-112,414,850 , GRCh37 chr7: 101,450,429-112,054,905 , NCBI36 chr7: 101,237,149-111,842,141	SRPK2, DNAJC2, 139 more genes
nsv7097853	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 104,456,677-108,155,935 , GRCh38.p12 chr7: 104,816,230-108,515,491	SRPK2, RNU6-1322P, 57 more genes
nsv4578664	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 104,506,008-107,408,857 , GRCh38.p12 chr7: 104,865,561-107,768,412	SRPK2, LHFPL3-AS2, 43 more genes
nsv3918078	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr7: 102,235,882-105,128,791 , GRCh37 chr7: 102,448,646-105,341,555 , GRCh38 chr7: 102,808,199-105,701,108	SRPK2, LHFPL3, 40 more genes
nsv5674235	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 104,696,686-105,407,628 , GRCh38.p12 chr7: 105,056,239-105,767,182	SRPK2, ATXN7L1, 9 more genes
nsv6636539	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 104,497,480-105,121,286 , GRCh38.p12 chr7: 104,857,033-105,480,839	SRPK2, KMT2E, 9 more genes
nsv3894780	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 10,704-159,122,532 , GRCh38.p12 chr7: 10,704-159,329,842	SRPK2, RNU6-565P, 2684 more genes
nsv4455091	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 10,365-159,119,707 , GRCh38.p12 chr7: 10,365-159,327,017	SRPK2, RPL23AP51, 2684 more genes

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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 37

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Number of Variants: 20

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Supplemental Content

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