psen1[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
nsv5672810	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 73,204,758-73,209,313 , GRCh37 chr14: 73,671,466-73,676,021	PSEN1
nsv6309359	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 73,673,074-73,673,200 , GRCh38.p12 chr14: 73,206,366-73,206,492	PSEN1
nsv3878794	copy number variation	1	nstd102	human	not provided	GRCh37 chr14: 73,671,094-73,676,951 , GRCh38 chr14: 73,204,386-73,210,243	PSEN1
nsv5672571	copy number variation	1	nstd102	human	not provided	GRCh37 chr14: 73,671,468-73,676,022 , GRCh38 chr14: 73,204,760-73,209,314	PSEN1
nsv3890395	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 73,544,397-73,618,080 , GRCh38.p12 chr14: 73,077,689-73,151,372	PSEN1, RBM25
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	PSEN1, CEP128, 240 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	PSEN1, 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	PSEN1, 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	PSEN1, 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	PSEN1, 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	PSEN1, 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	PSEN1, 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	PSEN1, 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	PSEN1, PAPOLA-DT, 1338 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	PSEN1, ACYP1, 125 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	PSEN1, ACTN1, 400 more genes
nsv3906122	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr14: 73,304,565-73,833,005 , GRCh38.p12 chr14: 72,837,857-73,366,297	PSEN1, RBM25-AS1, 15 more genes
nsv3894729	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr14: 73,373,094-73,702,874 , GRCh38.p12 chr14: 72,906,386-73,236,166	PSEN1, RPS12P1, 11 more genes
nsv6637337	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 73,216,923-73,758,752 , GRCh38.p12 chr14: 72,750,215-73,292,044	PSEN1, NUMB, 15 more genes
nsv3922378	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr14: 72,324,025-72,805,442 , GRCh37.p13 chr14: 73,254,272-73,735,689 , GRCh38.p12 chr14: 72,787,564-73,268,981	PSEN1, PAPLN, 14 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 24

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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