elavl3[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 18

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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
nsv6314468	complex chromosomal rearrangement	3	nstd102	human	Uncertain significance	GRCh38.p12 chr19: 11,463,423-11,463,423 , GRCh38.p12 chr19: 11,463,440-11,463,440 , GRCh37 chr19: 11,574,238-11,574,238 , GRCh37 chr19: 11,574,255-11,574,255 , GRCh38.p12 chr2: 94,876,916-94,876,916 , GRCh38.p12 chr2: 94,876,933-94,876,933 , GRCh38.p12 chr2: 94,877,044-94,877,044 , GRCh38.p12 chr2: 94,877,065-94,877,065 , GRCh37 chr2: 95,542,661-95,542,661 , GRCh37 chr2: 95,542,678-95,542,678 , GRCh37 chr2: 95,542,789-95,542,789 , GRCh37 chr2: 95,542,810-95,542,810	ELAVL3, TEKT4, 1 more genes
nsv3922964	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 10,319,474-13,777,860 , NCBI36 chr19: 10,291,150-13,749,674 , GRCh37 chr19: 10,430,150-13,888,674	ELAVL3, SWSAP1, 164 more genes
nsv3922999	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 10,240,071-12,946,266 , GRCh37.p13 chr19: 10,379,071-13,085,266 , GRCh38.p12 chr19: 10,268,395-12,974,452	ELAVL3, ZNF433, 155 more genes
nsv4729806	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 10,957,601-11,672,041 , GRCh38.p12 chr19: 10,846,925-11,561,226	ELAVL3, DOCK6-AS1, 32 more genes
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	ELAVL3, ZNF321P, 2443 more genes
nsv3903203	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793	ELAVL3, BABAM1, 2426 more genes
nsv3903092	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521	ELAVL3, LENG8, 2408 more genes
nsv3913730	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354	ELAVL3, BCKDHA, 1102 more genes
nsv3898900	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 9,678,768-14,853,426 , GRCh38.p12 chr19: 9,568,092-14,742,614	ELAVL3, FBXL12, 253 more genes
nsv3923415	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 10,286,934-14,020,806 , GRCh37 chr19: 10,425,934-14,159,806 , GRCh38 chr19: 10,315,258-14,048,994	ELAVL3, MAN2B1, 182 more genes
nsv3920616	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr19: 8,802,823-13,303,041 , GRCh37 chr19: 8,941,823-13,442,041 , GRCh38 chr19: 8,831,147-13,331,227	ELAVL3, ACP5, 236 more genes
nsv4685775	copy number variation	1	nstd102	human	not provided	GRCh37 chr19: 10,642,984-12,810,067 , GRCh38.p12 chr19: 10,532,308-12,699,253	ELAVL3, SLC44A2, 114 more genes
nsv4451686	copy number variation	1	nstd102	human	not provided	GRCh37 chr19: 10,642,984-12,810,067 , GRCh38.p12 chr19: 10,532,308-12,699,253	ELAVL3, ODAD3, 114 more genes
nsv7095458	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr19: 10,828,919-13,482,613 , GRCh38.p12 chr19: 10,718,243-13,371,799	ELAVL3, WDR83OS, 140 more genes
nsv7095400	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 11,277,234-13,249,220 , GRCh38.p12 chr19: 11,166,558-13,138,406	ELAVL3, ZNF627, 120 more genes
nsv6291543	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 9,941,033-11,739,567 , GRCh38.p12 chr19: 9,830,357-11,628,752	ELAVL3, KRI1, 88 more genes
nsv4676222	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 11,445,773-12,160,664 , GRCh38.p12 chr19: 11,335,097-12,049,849	ELAVL3, ECSIT, 41 more genes
nsv3915706	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr19: 11,138,895-11,549,951 , NCBI36 chr19: 11,110,571-11,521,766 , GRCh37 chr19: 11,249,571-11,660,766	ELAVL3, ECSIT, 22 more genes

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elavl3[All Fields] AND 1[has_clinical] (19)
dbVar
IDO1 indoleamine 2,3-dioxygenase 1 [Homo sapiens]
IDO1 indoleamine 2,3-dioxygenase 1 [Homo sapiens]
Gene ID:3620

Gene
zinc finger protein WIP2-like [Medicago truncatula]
zinc finger protein WIP2-like [Medicago truncatula]
gi|1379755377|ref|XP_024628367.1|

Protein
ATP-dependent RNA helicase DDX19B isoform 1 [Homo sapiens]
ATP-dependent RNA helicase DDX19B isoform 1 [Homo sapiens]
gi|6005743|ref|NP_009173.1|

Protein

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