ela3b[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
nsv3873767	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 22,236,409-22,310,080 , GRCh38.p12 chr1: 21,909,916-21,983,587	CELA3B, HSPG2
nsv3871805	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 22,305,915-22,321,550 , GRCh38.p12 chr1: 21,979,422-21,995,057	CELA3B, RN7SL386P, 1 more genes
nsv3883555	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 22,303,497-22,329,511 , GRCh38.p12 chr1: 21,977,004-22,003,018	CELA3A, RNU6-1022P, 2 more genes
nsv6137724	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099	PADI1, RPS15AP6, 176 more genes
nsv3890174	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 18,674,315-22,839,387 , NCBI36 chr1: 18,546,902-22,711,974 , GRCh38 chr1: 18,347,821-22,512,894	HTR6, LOC105376817, 103 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	MARK1, LINC02766, 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	SNAP47, STK40, 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	RNU1-153P, MIR3917, 4887 more genes
nsv3903895	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 21,399,130-22,696,747 , NCBI36 chr1: 21,598,210-22,895,827 , GRCh37 chr1: 21,725,623-23,023,240	PDE4DIPP10, USP48, 35 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	LINC01776, IGSF21-AS1, 1853 more genes
nsv7095949	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 19,199,339-24,690,861 , GRCh38.p12 chr1: 18,872,845-24,364,371	RPL29P6, NBPF3, 156 more genes
nsv7095496	copy number variation	3	nstd102	human	Uncertain significance	GRCh37 chr1: 19,199,339-22,987,879 , GRCh38.p12 chr1: 18,872,845-22,661,386	RN7SL277P, MPHOSPH6P1, 103 more genes
nsv3904455	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 21,822,167-22,375,702 , GRCh38 chr1: 21,495,674-22,049,209 , NCBI36 chr1: 21,694,754-22,248,289	CELA3A, RNU6-1022P, 14 more genes
nsv4436680	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269	ALPL, RERE, 636 more genes
nsv4436486	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269	ALPL, C1QA, 174 more genes

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