ngef[All Fields] AND 1[has_clinical] - 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
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	NGEF, DAZAP2P1, 2991 more genes
nsv6313668	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062	NGEF, LOC105373947, 357 more genes
nsv3898929	copy number variation	2	nstd102	human	Pathogenic	GRCh38 chr2: 231,770,279-242,126,245 , GRCh37 chr2: 232,634,989-243,059,659 , NCBI36 chr2: 232,343,233-242,717,069	NGEF, PDE6D, 227 more genes
nsv3893827	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 227,551,089-237,459,981 , GRCh38 chr2: 226,978,129-236,886,599 , GRCh37 chr2: 227,842,845-237,795,242	NGEF, B3GNT7, 193 more genes
nsv4768328	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 233,110,452-243,028,452 , GRCh38.p12 chr2: 232,245,742-242,086,301	NGEF, LOC107985836, 217 more genes
nsv6315436	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232	NGEF, LOC105373929, 204 more genes
nsv3871027	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 233,784,243-243,040,217 , GRCh38.p12 chr2: 232,919,533-242,098,066	NGEF, MROH2A, 194 more genes
nsv3906029	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 227,916,238-235,912,551 , GRCh38 chr2: 227,343,278-235,339,168 , GRCh37 chr2: 228,207,994-236,247,812	NGEF, SP110, 167 more genes
nsv6313683	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 228,807,574-235,475,892 , GRCh38.p12 chr2: 227,942,858-234,567,248	NGEF, RNU7-9P, 143 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	NGEF, LOC112268439, 3737 more genes
nsv3874648	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305	NGEF, IGKV2OR2-10, 3737 more genes
nsv3885544	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609	NGEF, RNU6-674P, 3735 more genes
nsv3882615	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232	NGEF, MTND2P22, 3724 more genes
nsv4728725	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306	NGEF, LOC105376755, 1013 more genes
nsv3890898	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 188,818,195-242,065,208 , NCBI36 chr2: 189,391,166-242,656,032 , GRCh37 chr2: 189,682,921-243,007,359	NGEF, LOC105373909, 901 more genes
nsv3896499	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232	NGEF, RNU6-1206P, 883 more genes
nsv3908112	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921	NGEF, LOC101928084, 871 more genes
nsv3892046	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 195,763,507-237,382,556 , NCBI36 chr2: 195,471,752-237,047,295 , GRCh38 chr2: 194,898,783-236,473,913	NGEF, NPM1P46, 706 more genes
nsv3892823	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 211,444,400-243,059,659 , GRCh38 chr2: 210,579,676-242,126,245 , NCBI36 chr2: 211,152,645-242,717,069	NGEF, RPL19P5, 567 more genes
nsv3871121	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 213,518,431-242,783,384 , GRCh38.p12 chr2: 212,653,707-241,841,232	NGEF, TWIST2, 544 more genes

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Number of Variants: 20

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 38

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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