nup153[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
nsv3872373	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 5,354,402-17,950,079 , GRCh38.p12 chr6: 5,354,169-17,949,848	NUP153, TMEM14B, 189 more genes
nsv6636333	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 12,005,630-22,849,647 , GRCh38.p12 chr6: 12,005,397-22,849,418	NUP153, SOX4, 136 more genes
nsv3875604	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 13,693,852-24,225,515 , GRCh38.p12 chr6: 13,693,620-24,225,287	NUP153, KIF13A, 124 more genes
nsv4456299	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 13,910,125-22,000,204 , GRCh38.p12 chr6: 13,909,894-21,999,975	NUP153, LOC101928354, 101 more genes
nsv3877040	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698	NUP153, LOC105378061, 2914 more genes
nsv3879811	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 108,666-170,980,171 , GRCh38.p12 chr6: 108,666-170,671,083	NUP153, RNU6-411P, 2910 more genes
nsv3887898	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr6: 156,975-170,919,482 , GRCh38.p12 chr6: 156,975-170,610,394	NUP153, SOD1P1, 2905 more genes
nsv3889814	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 165,632-170,919,470 , GRCh38.p12 chr6: 165,632-170,610,382	NUP153, ITPR3, 2905 more genes
nsv3913920	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 156,974-46,789,291 , NCBI36 chr6: 101,974-46,864,987 , GRCh37 chr6: 156,974-46,757,028	NUP153, TRR-ACG1-2, 1385 more genes
nsv3920564	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 3,224,310-30,657,190 , GRCh37 chr6: 3,224,544-30,624,967 , NCBI36 chr6: 3,169,543-30,732,946	NUP153, PRELID1P2, 785 more genes
nsv3888615	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 168,775-24,023,234 , GRCh38.p12 chr6: 168,775-24,023,006	NUP153, LOC107986557, 349 more genes
nsv3872568	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 168,775-24,023,234 , GRCh38.p12 chr6: 168,775-24,023,006	NUP153, TXNDC5, 349 more genes
nsv4456780	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 156,974-23,221,621 , GRCh38.p12 chr6: 156,974-23,221,393	NUP153, LOC105374960, 342 more genes
nsv3886069	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 156,974-21,955,964 , GRCh38.p12 chr6: 156,974-21,955,733	NUP153, FOXCUT, 331 more genes
nsv7093363	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 820,000-21,700,000 , GRCh38.p12 chr6: 820,000-21,699,769	NUP153, LOC101928354, 321 more genes
nsv3913657	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr6: 51,431-18,468,805 , GRCh38 chr6: 106,431-18,360,595 , GRCh37 chr6: 106,431-18,360,826	NUP153, LOC105374904, 294 more genes
nsv3873277	copy number variation	1	nstd102	human	Benign	GRCh37 chr6: 17,464,687-17,635,050 , GRCh38.p12 chr6: 17,464,456-17,634,819	NUP153, LOC102724591, 6 more genes
nsv3870647	copy number variation	1	nstd102	human	Benign	GRCh37 chr6: 17,386,895-18,021,075 , GRCh38.p12 chr6: 17,386,664-18,020,844	NUP153, KIF13A, 11 more genes
nsv3917684	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr6: 17,662,191-17,891,884 , GRCh37.p13 chr6: 17,554,212-17,783,905 , GRCh38.p12 chr6: 17,553,981-17,783,674	NUP153, KIF13A, 7 more genes
nsv3916861	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr6: 17,542,363-17,745,330 , GRCh37.p13 chr6: 17,434,384-17,637,351 , GRCh38.p12 chr6: 17,434,153-17,637,120	NUP153, RNU6-190P, 6 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 24

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Number of Variants: 20

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