dbVar for OMIM (Select 103050) - dbVar

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Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7096308	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr22: 35,776,672-42,486,826 , GRCh38.p12 chr22: 35,380,679-42,090,822	CDC42EP1, SREBF2, 231 more genes
nsv7095840	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 40,741,451-40,756,516 , GRCh38.p12 chr22: 40,345,447-40,360,512	ADSL
nsv6311273	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 40,749,057-40,750,351 , GRCh38.p12 chr22: 40,353,053-40,354,347	ADSL
nsv6311136	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr22: 39,621,728-41,077,932 , GRCh38.p12 chr22: 39,225,723-40,681,928	TAB1, TNRC6B, 34 more genes
nsv4683740	copy number variation	2	nstd102	human	Uncertain significance, Likely pathogenic	GRCh37 chr22: 40,760,260-40,762,546 , GRCh38.p12 chr22: 40,364,256-40,366,542	ADSL
nsv4682071	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr22: 40,742,514-40,749,141 , GRCh38.p12 chr22: 40,346,510-40,353,137	ADSL
nsv3882963	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr22: 40,742,514-40,762,546 , GRCh38.p12 chr22: 40,346,510-40,366,542	ADSL

dbVar