ppfia1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 11

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	PPFIA1, FAUP4, 2031 more genes
nsv6290813	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 69,214,835-70,821,137 , GRCh38.p12 chr11: 69,400,067-71,110,091	PPFIA1, CCND1, 25 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	PPFIA1, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	PPFIA1, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	PPFIA1, IGHMBP2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	PPFIA1, PYGM, 2125 more genes
nsv3917463	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr11: 67,555,736-70,982,189 , GRCh37 chr11: 67,799,160-71,304,541 , GRCh38 chr11: 68,031,693-71,593,495	PPFIA1, CCND1, 71 more genes
nsv3909768	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 67,799,160-70,701,268 , GRCh38.p12 chr11: 68,031,693-70,855,163	PPFIA1, CCND1, 56 more genes
nsv3901328	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 70,072,759-70,353,476 , GRCh38.p12 chr11: 70,226,653-70,507,371	PPFIA1, CTTN, 5 more genes
nsv6637600	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 69,559,588-70,347,818 , GRCh38.p12 chr11: 69,744,820-70,501,713	PPFIA1, LOC107984368, 15 more genes
nsv4456967	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 69,849,324-70,478,959 , GRCh38.p12 chr11: 70,003,218-70,632,854	PPFIA1, H2AZP4, 13 more genes

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