dbVar for OMIM (Select 605270) - dbVar - NCBI

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Items: 12

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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
nsv7095368	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 78,187,951-78,247,223 , GRCh38.p12 chr17: 80,214,152-80,273,424	SLC26A11, SGSH, 1 more genes
nsv7094994	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,194,005-78,194,112 , GRCh38.p12 chr17: 80,220,206-80,220,313	SGSH, SLC26A11
nsv7094993	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,188,510-78,190,896 , GRCh38.p12 chr17: 80,214,711-80,217,097	SGSH
nsv7094992	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 78,188,394-78,194,112 , GRCh38.p12 chr17: 80,214,595-80,220,313	SGSH, SLC26A11
nsv7094925	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 78,109,289-78,272,338 , GRCh38.p12 chr17: 80,135,490-80,298,538	RNF213, SGSH, 3 more genes
nsv7093593	insertion	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,186,024-78,186,024 , GRCh38 chr17: 80,212,225-80,212,225	SGSH
nsv7093573	delins	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,186,025-78,186,029 , GRCh38 chr17: 80,212,226-80,212,230	SGSH
nsv7093229	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 78,193,605-78,194,077 , GRCh38 chr17: 80,219,806-80,220,278	SGSH, SLC26A11
nsv6310048	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,188,457-78,189,226 , GRCh38 chr17: 80,214,658-80,215,427	SGSH
nsv5673026	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 78,193,958-78,194,025 , GRCh38 chr17: 80,220,159-80,220,226	SGSH, SLC26A11
nsv5672895	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,194,005-78,194,132 , GRCh38.p12 chr17: 80,220,206-80,220,333	SGSH, SLC26A11
nsv4682733	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 78,187,593-78,188,947 , GRCh38.p12 chr17: 80,213,794-80,215,148	SGSH

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