apeh[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
nsv3912778	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 49,498,433-55,348,528 , GRCh38 chr3: 49,461,000-55,314,500 , NCBI36 chr3: 49,473,437-55,323,568	APEH, SEMA3G, 160 more genes
nsv4728146	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,807,193-51,363,558 , GRCh38.p12 chr3: 48,769,760-51,326,127	APEH, MIR5193, 90 more genes
nsv5673729	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 48,507,870-50,340,407 , GRCh38.p12 chr3: 48,466,471-50,302,976	APEH, SEMA3B-AS1, 87 more genes
nsv6311990	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 49,547,968-50,685,477 , GRCh38.p12 chr3: 49,510,535-50,648,046	APEH, RNA5SP131, 52 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	APEH, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	APEH, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	APEH, RPL23AP49, 2875 more genes
nsv4347762	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 45,153,770-53,878,616 , GRCh38.p12 chr3: 45,112,278-53,844,589	APEH, UQCRC1, 291 more genes
nsv3921797	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 45,896,379-50,762,357 , GRCh38 chr3: 45,879,883-50,749,922 , GRCh37 chr3: 45,921,375-50,787,353	APEH, RBM5-AS1, 185 more genes
nsv3883164	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 37,028,313-49,929,220 , GRCh38.p12 chr3: 36,986,822-49,891,787	APEH, ACAA1, 344 more genes

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