pola2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 10

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	POLA2, FAUP4, 2031 more genes
nsv6309121	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 64,522,783-66,283,694 , GRCh38.p12 chr11: 64,755,311-66,516,223	POLA2, SF3B2, 124 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	POLA2, 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	POLA2, 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	POLA2, 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	POLA2, PYGM, 2125 more genes
nsv3902272	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 64,501,919-67,129,258 , GRCh38.p12 chr11: 64,734,447-67,361,787	POLA2, ACTN3, 157 more genes
nsv4436237	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 63,533,279-65,429,676 , GRCh38.p12 chr11: 63,765,807-65,662,205	POLA2, ARL2, 117 more genes
nsv6314192	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 64,935,724-66,405,514 , GRCh38.p12 chr11: 65,168,253-66,638,043	POLA2, CNIH2, 95 more genes
nsv7094093	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr11: 64,973,914-70,052,579 , GRCh38.p12 chr11: 65,206,443-70,206,473	POLA2, B4GAT1, 208 more genes

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pola2[All Fields] AND 1[has_clinical] (11)
dbVar
coiled-coil domain-containing protein 169 isoform b [Mus musculus]
coiled-coil domain-containing protein 169 isoform b [Mus musculus]
gi|588480450|ref|NP_001277067.1|

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