dbVar for OMIM (Select 605907) - dbVar

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Links from OMIM

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Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6112805	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 5,129,043-5,129,828 , GRCh38.p12 chr16: 5,079,042-5,079,827	ALG1
nsv6112782	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 5,121,789-5,133,778 , GRCh38.p12 chr16: 5,071,788-5,083,777	EEF2KMT, ALG1
nsv3874063	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr16: 5,130,947-5,147,740 , GRCh38 chr16: 5,080,946-5,097,739	ALG1, EEF2KMT