ptpn22[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 15

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Number of Variants: 15

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	PTPN22, LINC01307, 320 more genes
nsv5381058	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855	PTPN22, AMYP1, 320 more genes
nsv7095695	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 111,145,905-114,454,813 , GRCh38.p12 chr1: 110,603,283-113,912,191	PTPN22, LOC107985189, 83 more genes
nsv7095696	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 112,318,699-115,576,848 , GRCh38.p12 chr1: 111,776,077-115,034,227	PTPN22, AKR7A2P1, 69 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	PTPN22, 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	PTPN22, 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	PTPN22, 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	PTPN22, LINC02607, 513 more genes
nsv3890331	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655	PTPN22, OR11I1P, 324 more genes
nsv6313671	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985	PTPN22, GAPDHP23, 243 more genes
nsv3898188	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827	PTPN22, AP4B1-AS1, 198 more genes
nsv4673999	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 114,024,461-116,189,135 , GRCh38.p12 chr1: 113,481,839-115,646,514	PTPN22, AMPD1, 43 more genes
nsv3877981	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr1: 114,209,101-114,831,532 , GRCh38.p12 chr1: 113,666,479-114,288,910	PTPN22, OLFML3, 14 more genes
nsv7095740	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 113,456,513-116,311,162 , GRCh38.p12 chr1: 112,913,891-115,768,541	PTPN22, TRIM33, 55 more genes
nsv3877482	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 114,011,163-114,803,749 , GRCh38.p12 chr1: 113,468,541-114,261,127	PTPN22, MAGI3, 14 more genes

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ptpn22[All Fields] AND 1[has_clinical] (16)
dbVar
ANGPT2 angiopoietin 2 [Homo sapiens]
ANGPT2 angiopoietin 2 [Homo sapiens]
Gene ID:285

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