uqcrc2[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6309860	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr16: 21,964,745-21,994,492 , GRCh38.p12 chr16: 21,953,424-21,983,171 , GRCh38.p12 chr16\|NW_017852933.1: 1,121,867-1,151,615	UQCRC2, PDZD9, 1 more genes
nsv3905855	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,596,299-30,399,167 , GRCh38.p12 chr16: 21,584,978-30,387,846	UQCRC2, LOC107984874, 217 more genes
nsv6290289	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,594,997-29,625,302 , GRCh38.p12 chr16: 21,583,676-29,613,981	UQCRC2, LOC105371149, 166 more genes
nsv3891271	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,379,628-29,379,768 , GRCh38.p12 chr16: 21,368,307-29,368,447	UQCRC2, LOC101927814, 159 more genes
nsv6289847	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,530,207-29,332,245 , GRCh38.p12 chr16: 21,518,886-29,320,924	UQCRC2, GAPDHP35, 154 more genes
nsv7137115	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,467,726-29,044,717 , GRCh38.p12 chr16: 21,456,405-29,033,396	UQCRC2, OTOAP1, 148 more genes
nsv3924349	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,612,313-28,334,665 , GRCh38 chr16: 21,600,992-28,323,344 , NCBI36 chr16: 21,519,814-28,242,166	UQCRC2, SLC5A11, 111 more genes
nsv6290342	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,747,532-22,824,584 , GRCh38.p12 chr16: 21,736,211-22,813,263	UQCRC2, SMG1P4, 28 more genes
nsv6290336	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,781,158-22,825,913 , GRCh38.p12 chr16: 21,769,837-22,814,592	UQCRC2, ABCA3P1, 27 more genes
nsv3897438	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,931,247-22,710,614 , GRCh38.p12 chr16\|NW_017852933.1: 259,068-1,185,112 , GRCh38.p12 chr16: 21,919,926-22,699,293	UQCRC2, POLR3E, 26 more genes
nsv3908746	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,801,889-22,710,614 , GRCh38.p12 chr16: 21,790,568-22,699,293	UQCRC2, SMG1P1, 25 more genes
nsv3904070	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr16: 21,817,921-22,710,614 , GRCh38.p12 chr16: 21,806,600-22,699,293	UQCRC2, LOC100420644, 24 more genes
nsv3906925	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,841,455-22,710,614 , GRCh38.p12 chr16: 21,830,134-22,699,293	UQCRC2, VWA3A, 23 more genes
nsv4675532	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,576,802-22,431,357 , GRCh38.p12 chr16\|NW_017852933.1: 685,003-1,539,332 , GRCh38.p12 chr16: 21,565,481-22,420,036	UQCRC2, RNU6-196P, 27 more genes
nsv6290334	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,751,992-22,546,976 , GRCh38.p12 chr16\|NW_017852933.1: 569,382-1,364,125 , GRCh38.p12 chr16: 21,740,671-22,535,655	UQCRC2, LOC105371129, 26 more genes
nsv6290329	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,869,250-22,524,572 , GRCh38.p12 chr16: 21,857,929-22,513,251	UQCRC2, ABCA3P1, 20 more genes
nsv3890978	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,801,889-22,442,007 , GRCh38.p12 chr16: 21,790,568-22,430,686 , GRCh38.p12 chr16\|NW_017852933.1: 674,353-1,314,212	UQCRC2, RRN3P1, 21 more genes
nsv1398024	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,771,016-22,409,463 , GRCh38.p12 chr16\|NW_017852933.1: 706,897-1,345,085 , GRCh38.p12 chr16: 21,759,695-22,398,142	UQCRC2, POLR3E, 21 more genes
nsv3905216	copy number variation	4	nstd102	human	Uncertain significance, Pathogenic, conflicting data from submitters	GRCh37 chr16: 21,801,889-22,431,357 , GRCh38.p12 chr16\|NW_017852933.1: 685,003-1,314,212 , GRCh38.p12 chr16: 21,790,568-22,420,036	UQCRC2, TRL-AAG2-4, 21 more genes
nsv6315180	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 21,837,492-22,407,931 , GRCh38.p12 chr16: 21,826,171-22,396,610 , GRCh38.p12 chr16\|NW_017852933.1: 708,429-1,278,604	UQCRC2, NPIPB4, 18 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 118

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Number of Variants: 20

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