dbVar for OMIM (Select 272800) - dbVar - NCBI

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Items: 19

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Number of Variants: 19

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7094789	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,646,063-72,653,091 , GRCh38.p12 chr15: 72,353,722-72,360,750	HEXA
nsv7094788	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr15: 72,640,007-72,641,620 , GRCh38.p12 chr15: 72,347,666-72,349,279	HEXA
nsv7094787	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,638,556-72,639,071 , GRCh38.p12 chr15: 72,346,215-72,346,730	HEXA
nsv7094786	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr15: 72,636,418-73,660,611 , GRCh38.p12 chr15: 72,344,077-73,368,270	LOC105370890, HIGD2B, 24 more genes
nsv7094631	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr15: 72,666,113-72,666,961 , GRCh38.p12 chr15: 72,373,772-72,374,620	HEXA, HEXA-AS1
nsv7094630	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,638,867-72,641,658 , GRCh38.p12 chr15: 72,346,526-72,349,317	HEXA
nsv7094629	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,637,535-72,639,061 , GRCh38.p12 chr15: 72,345,194-72,346,720	HEXA
nsv7094275	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr15: 72,636,482-72,640,026 , GRCh38.p12 chr15: 72,344,141-72,347,685	HEXA
nsv7093346	copy number variation	1	nstd102	human	Likely benign	GRCh38 chr15: 72,373,772-72,374,620 , GRCh37 chr15: 72,666,113-72,666,961	HEXA-AS1, HEXA
nsv6315100	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,648,959-72,668,815 , GRCh38.p12 chr15: 72,356,618-72,376,474	HEXA-AS1, HEXA
nsv6309803	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,103,084-74,244,178 , GRCh38.p12 chr15: 71,810,744-73,951,837	PHB1P20, TMEM202, 51 more genes
nsv6309737	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,636,408-72,636,491 , GRCh38.p12 chr15: 72,344,067-72,344,150	HEXA
nsv5672589	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr15: 72,637,767-72,639,071 , GRCh38.p12 chr15: 72,345,426-72,346,730	HEXA
nsv4683987	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,662,932-72,670,877 , GRCh38.p12 chr15: 72,370,591-72,378,536	HEXA, HEXA-AS1, 1 more genes
nsv4683814	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,666,801-72,668,333 , GRCh38.p12 chr15: 72,374,460-72,375,992	HEXA-AS1, HEXA
nsv4682283	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 72,642,849-72,643,585 , GRCh38.p12 chr15: 72,350,508-72,351,244	HEXA
nsv4451071	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr15: 72,347,666-72,351,254 , GRCh37 chr15: 72,640,007-72,643,595	HEXA
nsv3924558	delins	1	nstd102	human	Pathogenic/Likely pathogenic	GRCh37 chr15: 72,662,933-72,670,877 , GRCh38 chr15: 72,370,592-72,378,536	HEXA, HEXA-AS1, 1 more genes
nsv3881527	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr15: 72,637,787-72,639,051 , GRCh38 chr15: 72,345,446-72,346,710	HEXA

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