dbVar for OMIM (Select 125671) - 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
nsv7095006	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr18: 29,122,463-29,122,835 , GRCh38.p12 chr18: 31,542,500-31,542,872	DSG2-AS1, DSG2
nsv7095005	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr18: 29,098,182-29,178,638 , GRCh38.p12 chr18: 31,518,219-31,598,675	DSG2, TTR, 1 more genes
nsv7094932	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 29,115,213-29,126,706 , GRCh38.p12 chr18: 31,535,250-31,546,743	DSG2-AS1, DSG2
nsv7094931	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr18: 29,078,215-29,178,638 , GRCh38.p12 chr18: 31,498,252-31,598,675	TTR, DSG2, 1 more genes
nsv7093574	delins	1	nstd102	human	Pathogenic	GRCh37 chr18: 29,104,749-29,104,778 , GRCh38 chr18: 31,524,786-31,524,815	DSG2
nsv6310355	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr18: 29,115,223-29,118,951 , GRCh38.p12 chr18: 31,535,260-31,538,988	DSG2
nsv6310255	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr18: 29,099,325-29,099,910 , GRCh38.p12 chr18: 31,519,362-31,519,947	DSG2
nsv6310208	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr18: 29,099,746-29,099,920 , GRCh38.p12 chr18: 31,519,783-31,519,957	DSG2
nsv5673140	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr18: 31,545,864-31,546,096 , GRCh37 chr18: 29,125,827-29,126,059	DSG2-AS1, DSG2
nsv5381260	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr18: 29,118,704-29,126,716 , GRCh38.p12 chr18: 31,538,741-31,546,753	DSG2-AS1, DSG2
nsv4681895	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr18: 29,099,756-29,099,910 , GRCh38.p12 chr18: 31,519,793-31,519,947	DSG2
nsv4681438	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr18: 29,078,205-29,178,648 , GRCh38.p12 chr18: 31,498,242-31,598,685	DSG2, TTR, 1 more genes

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