atp2a2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 15

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Number of Variants: 15

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5672791	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 110,719,595-110,720,600 , GRCh38.p12 chr12: 110,281,790-110,282,795	ATP2A2
nsv7094122	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 110,729,805-110,729,949 , GRCh38.p12 chr12: 110,292,000-110,292,144	ATP2A2
nsv6314772	insertion	1	nstd102	human	Pathogenic	GRCh37 chr12: 110,720,505-110,720,505 , GRCh38 chr12: 110,282,700-110,282,700	ATP2A2
nsv3902732	copy number variation	1	nstd102	human	Benign	GRCh37 chr12: 110,718,830-110,719,468 , GRCh38.p12 chr12: 110,281,025-110,281,663	ATP2A2
nsv7094025	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 110,646,956-110,765,842 , GRCh38.p12 chr12: 110,209,151-110,328,037	ATP2A2, IFT81
nsv6309248	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 110,628,705-110,788,110 , GRCh38.p12 chr12: 110,190,900-110,350,305	ATP2A2, IFT81
nsv6291583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997	ATP2A2, LOC105369964, 147 more genes
nsv3916234	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686	ATP2A2, LOC100287944, 141 more genes
nsv4728881	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102	ATP2A2, CUX2, 115 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	ATP2A2, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	ATP2A2, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	ATP2A2, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	ATP2A2, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	ATP2A2, OR5BT1P, 2441 more genes
nsv3893927	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 103,044,333-111,639,805 , GRCh38.p12 chr12: 102,650,555-111,202,001	ATP2A2, ACACB, 150 more genes

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