eif2b3[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	EIF2B3, 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	EIF2B3, 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	EIF2B3, RNU1-153P, 4887 more genes
nsv6313688	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139	EIF2B3, LOC107984940, 407 more genes
nsv3888489	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184	EIF2B3, CDKN2C, 141 more genes
nsv4674088	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 45,386,263-45,982,314 , GRCh38.p12 chr1: 44,920,591-45,516,642	EIF2B3, TOE1, 17 more genes
nsv4674668	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 45,337,007-45,554,100 , GRCh38.p12 chr1: 44,871,335-45,088,428	EIF2B3, PPIAP35, 7 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	EIF2B3, LINC01776, 1853 more genes
nsv3878135	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841	EIF2B3, LINC02786, 365 more genes
nsv7095531	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821	EIF2B3, AKR1A1, 87 more genes
nsv6314936	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489	EIF2B3, ZSWIM5, 79 more genes
nsv3903595	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 43,896,056-44,867,736 , NCBI36 chr1: 44,134,315-45,105,995 , GRCh37 chr1: 44,361,728-45,333,408	EIF2B3, SNORD145, 47 more genes
nsv3894172	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 45,200,617-45,823,521 , GRCh38 chr1: 44,962,358-45,585,262 , GRCh37 chr1: 45,428,030-46,050,934	EIF2B3, CCDC163, 18 more genes
nsv3904737	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 44,713,837-45,282,899 , NCBI36 chr1: 44,952,096-45,521,158 , GRCh37 chr1: 45,179,509-45,748,571	EIF2B3, LOC105378690, 26 more genes
nsv4682227	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 45,288,077-45,805,936 , GRCh38.p12 chr1: 44,822,405-45,340,264	EIF2B3, MUTYH, 14 more genes
nsv3895659	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 45,055,389-45,468,666 , GRCh37 chr1: 45,282,802-45,696,079 , GRCh38 chr1: 44,817,130-45,230,407	EIF2B3, RNA5SP47, 10 more genes

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