pars2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 19

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Number of Variants: 19

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6310882	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 55,223,407-55,224,834 , GRCh38.p12 chr1: 54,757,734-54,759,161	PARS2
nsv7095996	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 55,223,407-55,352,792 , GRCh38.p12 chr1: 54,757,734-54,887,119	PARS2, CIMAP2, 3 more genes
nsv4768338	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280	PARS2, TALDO1P1, 201 more genes
nsv3895522	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 54,092,945-64,714,537 , GRCh38 chr1: 53,627,272-64,248,854 , NCBI36 chr1: 53,865,533-64,487,125	PARS2, FGGY, 159 more genes
nsv3893402	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 53,738,212-61,439,648 , NCBI36 chr1: 53,976,473-61,677,908 , GRCh37 chr1: 54,203,885-61,905,320	PARS2, LOC105378748, 107 more genes
nsv5381135	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842	PARS2, LRP8-DT, 122 more genes
nsv3905460	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 54,445,687-54,995,219 , GRCh37 chr1: 54,673,099-55,222,631 , GRCh38 chr1: 54,207,426-54,756,958	PARS2, HNRNPA1P63, 11 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	PARS2, 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	PARS2, 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	PARS2, RNU1-153P, 4887 more genes
nsv3896927	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038	PARS2, DNAI4, 346 more genes
nsv3899721	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873	PARS2, AK4, 230 more genes
nsv3885555	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr1: 55,038,842-55,347,867 , GRCh38.p12 chr1: 54,573,169-54,882,194	PARS2, DHCR24, 7 more genes
nsv4728685	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr1: 55,036,105-55,274,639 , GRCh38.p12 chr1: 54,570,432-54,808,966	PARS2, TTC22, 6 more genes
nsv4728137	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr1: 55,090,187-55,313,988 , GRCh38.p12 chr1: 54,624,514-54,848,315	PARS2, CIMAP2, 6 more genes
nsv3872198	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 54,575,439-55,381,546 , GRCh38.p12 chr1: 54,109,766-54,915,873	PARS2, CDCP2, 18 more genes
nsv3911848	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 54,861,929-55,072,620 , GRCh37.p13 chr1: 55,089,341-55,300,032 , GRCh38.p12 chr1: 54,623,668-54,834,359	PARS2, CIMAP2, 6 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	PARS2, LINC01776, 1853 more genes
nsv3874954	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 55,036,657-55,800,829 , GRCh38.p12 chr1: 54,570,984-55,335,156	PARS2, TRK-CTT7-1, 18 more genes

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