ap4e1[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
nsv7148172	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr15: 50,923,067-50,925,830 , GRCh37.p13 chr15: 51,215,264-51,218,027	AP4E1
nsv6315093	insertion	1	nstd102	human	Pathogenic	GRCh37 chr15: 51,242,065-51,242,065 , GRCh38 chr15: 50,949,868-50,949,868	AP4E1
nsv7094718	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr15: 51,200,976-51,226,914 , GRCh38.p12 chr15: 50,908,779-50,934,717	AP4E1
nsv3887668	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 51,048,188-51,240,879 , GRCh38 chr15: 50,755,991-50,948,682	AP4E1, SPPL2A, 2 more genes
nsv3895104	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr15: 50,979,840-51,261,603 , GRCh38.p12 chr15: 50,687,643-50,969,406	AP4E1, RPL32P30, 3 more genes
nsv3915470	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr15: 50,756,382-50,978,175 , GRCh37 chr15: 51,048,579-51,270,372 , NCBI36 chr15: 48,835,871-49,057,664	AP4E1, DCAF13P3, 2 more genes
nsv3916249	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr15: 21,173,967-100,338,915 , GRCh37.p13 chr15: 23,622,526-102,521,392 , GRCh38.p12 chr15: 23,377,379-101,981,189	AP4E1, H3P40, 1616 more genes
nsv3919468	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr15: 26,996,912-100,338,915 , GRCh37.p13 chr15: 29,209,620-102,521,392 , GRCh38.p12 chr15: 28,917,417-101,981,189	AP4E1, RNU6-18P, 1442 more genes
nsv3903255	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 41,689,327-52,446,981 , GRCh38.p12 chr15: 41,397,129-52,154,784	AP4E1, RN7SKP101, 234 more genes
nsv3903669	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 43,759,773-53,252,240 , GRCh38.p12 chr15: 43,467,575-52,960,043	AP4E1, MIR4712, 188 more genes
nsv6313917	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 47,635,238-56,509,908 , GRCh38.p12 chr15: 47,343,041-56,217,710	AP4E1, PYGO1, 125 more genes
nsv3913164	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr15: 50,864,913-59,646,577 , GRCh37 chr15: 51,157,110-59,938,776 , NCBI36 chr15: 48,944,402-57,726,068	AP4E1, LOC112268148, 131 more genes
nsv4769387	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 48,744,917-53,851,050 , GRCh38.p12 chr15: 48,452,720-53,558,853	AP4E1, BCL2L10, 86 more genes
nsv3917643	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr15: 47,460,844-52,494,222 , GRCh37 chr15: 47,753,041-52,786,419 , NCBI36 chr15: 45,540,333-50,573,711	AP4E1, LOC105370819, 86 more genes
nsv7094385	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr15: 50,999,997-54,025,330 , GRCh38.p12 chr15: 50,707,800-53,733,133	AP4E1, LOC105370826, 48 more genes
nsv3900281	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 20,016,811-102,493,540 , GRCh38.p12 chr15: 19,811,558-101,953,337	AP4E1, MYZAP, 1750 more genes
nsv3913581	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr15: 18,323,354-100,338,915 , GRCh37.p13 chr15: 20,063,340-102,521,392 , GRCh38.p12 chr15: 19,858,087-101,981,189	AP4E1, MIR4513, 1754 more genes
nsv3904086	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 20,071,673-102,461,162 , GRCh38.p12 chr15: 19,866,420-101,920,959	AP4E1, TMEM202, 1747 more genes
nsv3905138	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 20,733,395-102,511,616 , GRCh38.p12 chr15: 20,528,156-101,971,413	AP4E1, FES, 1738 more genes
nsv3892955	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr15: 22,770,422-102,429,112 , GRCh38.p12 chr15: 23,319,714-101,888,909	AP4E1, FAM81A, 1614 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 40

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Number of Variants: 20

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