upf1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	UPF1, 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	UPF1, 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	UPF1, 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	UPF1, BCKDHA, 1102 more genes
nsv3914228	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 17,148,576-40,106,894 , GRCh38 chr19: 17,176,767-34,924,150 , GRCh37 chr19: 17,287,576-35,415,054	UPF1, LOC105372355, 411 more genes
nsv3922457	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 14,085,489-28,330,584 , GRCh38 chr19: 13,974,677-27,839,676 , NCBI36 chr19: 13,946,489-33,022,424	UPF1, REX1BD, 416 more genes
nsv3921076	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 15,133,594-24,193,591 , GRCh37 chr19: 15,244,405-24,376,393 , NCBI36 chr19: 15,105,405-24,168,233	UPF1, MRPL34, 358 more genes
nsv3895942	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 16,526,787-24,631,604 , GRCh38.p12 chr19: 16,415,976-24,448,802	UPF1, BNIP3P37, 307 more genes
nsv4729750	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 14,286,624-20,956,753 , GRCh38.p12 chr19: 14,175,812-20,773,947	UPF1, LOC105372309, 269 more genes
nsv6310474	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 18,893,725-19,312,528 , GRCh38.p12 chr19: 18,782,915-19,201,719	UPF1, MEF2B, 16 more genes
nsv7095477	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 17,927,663-19,312,528 , GRCh38.p12 chr19: 17,816,854-19,201,719	UPF1, BORCS8, 60 more genes

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upf1[All Fields] AND 1[has_clinical] (12)
dbVar
LOC580670[All Fields] AND 1[has_clinical] (0)
dbVar
signal peptidase I [Synechocystis salina]
signal peptidase I [Synechocystis salina]
gi|1928506703|ref|WP_194019728.1|

Protein
Carnegiella myersi[orgn] (0)
Nucleotide
MULTISPECIES: signal peptidase I [Microcystis]
MULTISPECIES: signal peptidase I [Microcystis]
gi|1002986470|ref|WP_061430997.1|

Protein

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