dbVar for Gene (Select 2673) - 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
nsv5886025	copy number variation	1	nstd209	human		GRCh38 chr2: 69,334,113-69,335,290 , GRCh37.p13 chr2: 69,561,245-69,562,422	GFPT1
nsv5878067	copy number variation	1	nstd209	human		GRCh38 chr2: 69,379,574-69,379,975 , GRCh37.p13 chr2: 69,606,706-69,607,107	GFPT1
nsv5868021	copy number variation	1	nstd209	human		GRCh38 chr2: 69,377,566-69,380,244 , GRCh37.p13 chr2: 69,604,698-69,607,376	GFPT1
nsv5833699	copy number variation	1	nstd209	human		GRCh38 chr2: 69,377,515-69,380,193 , GRCh37.p13 chr2: 69,604,647-69,607,325	GFPT1
nsv5833698	copy number variation	1	nstd209	human		GRCh38 chr2: 69,334,274-69,335,273 , GRCh37.p13 chr2: 69,561,406-69,562,405	GFPT1
nsv5719640	mobile element insertion	1	nstd211	human		GRCh38 chr2: 69,328,107-69,328,107 , GRCh37.p13 chr2: 69,555,239-69,555,239	GFPT1
nsv5554214	mobile element insertion	1	nstd206	human		GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595	, POLR1B, 2149 more genes
nsv5450560	copy number variation	1	nstd206	human		GRCh38 chr2: 69,340,219-69,341,762 , GRCh37.p13 chr2: 69,567,351-69,568,894	GFPT1
nsv5381586	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr2: 69,597,123-69,597,250 , GRCh38.p12 chr2: 69,369,991-69,370,118	GFPT1
nsv5381352	copy number variation	2	nstd102	human	Pathogenic, Uncertain significance	GRCh37 chr2: 69,553,299-69,614,213 , GRCh38.p12 chr2: 69,326,167-69,387,081	GFPT1
nsv5360755	translocation	1	nstd200	human		GRCh38 chr2: 69,383,154-69,383,154 , GRCh38 chr2: 69,383,283-69,383,283 , GRCh37.p13 chr2: 69,610,415-69,610,415 , GRCh37.p13 chr2: 69,610,286-69,610,286	GFPT1
nsv5329659	translocation	1	nstd200	human		GRCh37 chr2: 69,610,286-69,610,286 , GRCh37 chr2: 69,610,415-69,610,415 , GRCh38.p12 chr2: 69,383,154-69,383,154 , GRCh38.p12 chr2: 69,383,283-69,383,283	GFPT1
nsv5075897	mobile element insertion	1	nstd203	human		GRCh38 chr2: 69,352,784-69,352,810 , GRCh37.p13 chr2: 69,579,916-69,579,942	GFPT1
nsv4901781	copy number variation	1	nstd200	human		GRCh38 chr2: 69,381,784-69,404,242 , GRCh37.p13 chr2: 69,608,916-69,631,374	GFPT1, NFU1
nsv4901780	copy number variation	1	nstd200	human		GRCh38 chr2: 69,340,219-69,341,762 , GRCh37.p13 chr2: 69,567,351-69,568,894	GFPT1
nsv4776473	copy number variation	1	nstd200	human		GRCh37 chr2: 69,608,526-69,608,789 , GRCh38.p12 chr2: 69,381,394-69,381,657	GFPT1
nsv4770564	copy number variation	1	nstd200	human		GRCh37 chr2: 69,598,743-69,599,146 , GRCh38.p12 chr2: 69,371,611-69,372,014	GFPT1
nsv4770563	copy number variation	1	nstd200	human		GRCh37 chr2: 69,579,702-69,580,096 , GRCh38.p12 chr2: 69,352,570-69,352,964	GFPT1
nsv4770562	copy number variation	1	nstd200	human		GRCh37 chr2: 69,567,351-69,568,894 , GRCh38.p12 chr2: 69,340,219-69,341,762	GFPT1
nsv4770561	copy number variation	1	nstd200	human		GRCh37 chr2: 69,561,262-69,562,423 , GRCh38.p12 chr2: 69,334,130-69,335,291	GFPT1

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Number of Variants: 20

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dbVar

Result Filters

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Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

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Study Type

Subject Phenotype Status

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Items: 1 to 20 of 209

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Number of Variants: 20

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