dbVar for OMIM (Select 208150) - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv7098418	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 113,444,934-113,449,568 , GRCh38.p12 chr9: 110,682,654-110,687,288	MUSK
nsv7098193	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr9: 113,431,185-113,459,766 , GRCh38.p12 chr9: 110,668,905-110,697,486	MUSK
nsv7097682	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 113,509,901-113,538,955 , GRCh38.p12 chr9: 110,747,621-110,776,675	LOC107987115, MUSK
nsv7097681	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr9: 113,006,437-113,563,268 , GRCh38.p12 chr9: 110,244,157-110,800,988	LOC107987114, RPS21P5, 7 more genes
nsv7096994	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr4: 3,494,466-3,495,228 , GRCh38.p12 chr4: 3,492,739-3,493,501	DOK7
nsv7096993	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr4: 3,465,103-3,495,228 , GRCh38.p12 chr4: 3,463,376-3,493,501	LOC105374355, DOK7
nsv7094171	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,462,700-47,463,483 , GRCh38.p12 chr11: 47,441,149-47,441,931	RAPSN
nsv7094087	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,469,354-47,470,726 , GRCh38.p12 chr11: 47,447,802-47,449,174	RAPSN
nsv7094086	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,460,273-47,460,492 , GRCh38.p12 chr11: 47,438,722-47,438,941	RAPSN
nsv7094085	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,459,516-47,459,608 , GRCh38.p12 chr11: 47,437,965-47,438,057	RAPSN
nsv7093692	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,467,519-47,469,609 , GRCh38.p12 chr11: 47,445,967-47,448,057	RAPSN
nsv7093490	insertion	1	nstd102	human	Pathogenic	GRCh37 chr11: 47,469,470-47,469,470 , GRCh38 chr11: 47,447,918-47,447,918	RAPSN
nsv7093313	copy number variation	1	nstd102	human	Likely benign	GRCh38 chr4: 3,476,247-3,476,324 , GRCh37 chr4: 3,477,974-3,478,051	LOC105374355, DOK7
nsv6314701	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr4: 3,478,000-3,478,051 , GRCh38 chr4: 3,476,273-3,476,324	LOC105374355, DOK7
nsv6314700	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr4: 3,477,948-3,478,051 , GRCh38 chr4: 3,476,221-3,476,324	DOK7, LOC105374355
nsv6312746	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr9: 113,431,213-113,441,760 , GRCh38.p12 chr9: 110,668,933-110,679,480	MUSK
nsv6312676	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 113,449,377-113,457,830 , GRCh38.p12 chr9: 110,687,097-110,695,550	MUSK
nsv6312675	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 113,431,185-113,550,138 , GRCh38.p12 chr9: 110,668,905-110,787,858	LOC107987115, MUSK, 1 more genes
nsv6312250	copy number variation	2	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr4: 3,465,103-3,465,298 , GRCh38.p12 chr4: 3,463,376-3,463,571	DOK7
nsv6311703	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr4: 3,487,103-3,487,370 , GRCh38 chr4: 3,485,376-3,485,643	DOK7

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Number of Variants: 20

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Items: 1 to 20 of 35

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Number of Variants: 20

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