uqcrfs1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 13

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Number of Variants: 13

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	UQCRFS1, 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	UQCRFS1, 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	UQCRFS1, 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	UQCRFS1, BCKDHA, 1102 more genes
nsv6290300	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 19,546,923-41,313,229 , GRCh38.p12 chr19: 19,436,114-40,807,324	UQCRFS1, ZNF420, 574 more genes
nsv4457372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575	UQCRFS1, ZNF461, 735 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	UQCRFS1, LOC105372355, 411 more genes
nsv3920776	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr19: 34,234,635-37,150,342 , GRCh37 chr19: 29,542,795-32,458,502 , GRCh38 chr19: 29,051,888-31,967,596	UQCRFS1, CCNE1, 30 more genes
nsv3908619	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr19: 28,271,107-31,110,233 , GRCh38.p12 chr19: 27,780,199-30,619,326	UQCRFS1, CCNE1, 31 more genes
nsv3909544	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 29,341,513-29,818,674 , GRCh38.p12 chr19: 28,850,606-29,327,767	UQCRFS1, LINC00906, 6 more genes
nsv3919618	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr19: 32,962,986-39,966,686 , GRCh38 chr19: 27,780,238-34,783,942 , GRCh37 chr19: 28,271,146-35,274,846	UQCRFS1, LINC00906, 112 more genes
nsv3893300	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 29,083,484-31,804,809 , GRCh38.p12 chr19: 28,592,577-31,313,903	UQCRFS1, LOC105372358, 29 more genes
nsv4676277	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr19: 29,118,589-29,791,099 , GRCh38.p12 chr19: 28,627,682-29,300,192	UQCRFS1, LINC01532, 8 more genes

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