creb3l4[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 17

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Number of Variants: 17

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3903237	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 152,178,671-152,217,376 , GRCh37 chr1: 153,912,047-153,950,752 , GRCh38 chr1: 153,939,571-153,978,276	CREB3L4, DENND4B, 4 more genes
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	CREB3L4, CRB1, 1608 more genes
nsv4346764	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 153,701,504-154,218,584 , GRCh38.p12 chr1: 153,729,028-154,246,108	CREB3L4, GATAD2B, 23 more genes
nsv3903470	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 153,759,563-154,219,803 , NCBI36 chr1: 151,998,663-152,458,903 , GRCh37 chr1: 153,732,039-154,192,279	CREB3L4, RN7SL431P, 23 more genes
nsv7095753	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 153,782,653-153,964,569 , GRCh38.p12 chr1: 153,810,177-153,992,093	CREB3L4, JTB, 10 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	CREB3L4, 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	CREB3L4, 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	CREB3L4, RNU1-153P, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	CREB3L4, LOC101060227, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	CREB3L4, HORMAD1, 923 more genes
nsv3877540	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310	CREB3L4, LCE1F, 197 more genes
nsv3877731	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 153,859,810-154,034,971 , GRCh38 chr1: 153,887,335-154,062,496	CREB3L4, RAB13, 11 more genes
nsv3870644	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670	CREB3L4, ADAR, 145 more genes
nsv4728332	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 153,866,956-154,000,766 , GRCh38.p12 chr1: 153,894,480-154,028,290	CREB3L4, DENND4B, 10 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	CREB3L4, DCST1, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	CREB3L4, PRPF3, 352 more genes
nsv4673922	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 153,659,094-154,307,972 , GRCh38.p12 chr1: 153,686,618-154,335,496	CREB3L4, GATAD2B, 33 more genes

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creb3l4[All Fields] AND 1[has_clinical] (18)
dbVar
txid2726310[Organism:noexp] (5)
BioSample
Chain B, Collagenase 3
Chain B, Collagenase 3
gi|110591108|pdb|2D1N|B

Protein
Osteogenesis Imperfecta
Osteogenesis Imperfecta
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most...<br/>

MeSH
Brain Ischemia
Brain Ischemia
Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRA...<br/>Year introduced: 2000(1979)

MeSH

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