cept1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6636383	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 111,507,804-111,713,672 , GRCh38.p12 chr1: 110,965,182-111,171,050	CEPT1, CCNT2P1, 2 more genes
nsv6313675	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309	CEPT1, LINC01307, 320 more genes
nsv5381058	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855	CEPT1, AMYP1, 320 more genes
nsv3901500	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650	CEPT1, CHIAP1, 171 more genes
nsv3920130	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637	CEPT1, LOC105378898, 166 more genes
nsv3901806	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248	CEPT1, LOC126987, 151 more genes
nsv7095695	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 111,145,905-114,454,813 , GRCh38.p12 chr1: 110,603,283-113,912,191	CEPT1, LOC107985189, 83 more genes
nsv4454547	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 110,994,179-112,360,446 , GRCh38.p12 chr1: 110,451,557-111,817,824	CEPT1, CCNT2P1, 44 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	CEPT1, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	CEPT1, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	CEPT1, RNU1-153P, 4887 more genes
nsv3882464	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985	CEPT1, LINC02607, 513 more genes
nsv3890331	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655	CEPT1, OR11I1P, 324 more genes
nsv6313671	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985	CEPT1, GAPDHP23, 243 more genes
nsv3898188	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827	CEPT1, AP4B1-AS1, 198 more genes
nsv3875681	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr1: 103,175,204-111,410,059 , GRCh37.p13 chr1: 103,640,760-111,952,681	CEPT1, ALX3, 146 more genes
nsv3871557	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 111,726,213-111,863,338 , GRCh38.p12 chr1: 111,183,591-111,320,716	CEPT1, CHI3L2, 4 more genes
nsv5381203	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 111,506,243-111,745,058 , GRCh38.p12 chr1: 110,963,621-111,202,436	CEPT1, DENND2D, 4 more genes

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