ptbp2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 12

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6313675	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309	PTBP2, LINC01307, 320 more genes
nsv3893639	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 96,554,406-97,919,058 , NCBI36 chr1: 96,792,550-98,157,202 , GRCh37 chr1: 97,019,962-98,384,614	PTBP2, DPYD, 10 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	PTBP2, 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	PTBP2, 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	PTBP2, RNU1-153P, 4887 more genes
nsv3882464	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985	PTBP2, LINC02607, 513 more genes
nsv3898327	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 83,457,325-104,273,917 , GRCh37 chr1: 83,923,008-104,816,539 , NCBI36 chr1: 83,695,596-104,618,062	PTBP2, LINC01773, 322 more genes
nsv3884558	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 94,054,724-111,671,707 , GRCh38.p12 chr1: 93,589,167-111,129,085	PTBP2, SLC25A24, 265 more genes
nsv3894254	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 97,038,991-97,996,207 , GRCh37 chr1: 97,266,403-98,223,619 , GRCh38 chr1: 96,800,847-97,758,063	PTBP2, DPYD, 4 more genes
nsv3906578	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 96,590,001-99,560,081 , GRCh38 chr1: 96,124,445-99,094,525 , NCBI36 chr1: 96,362,589-99,332,669	PTBP2, DPYD-AS1, 25 more genes
nsv6636421	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 96,492,298-98,945,160 , GRCh38.p12 chr1: 96,026,742-98,479,604	PTBP2, NFU1P2, 22 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	PTBP2, LINC01776, 1853 more genes

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