paxbp1[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
nsv7096092	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 34,011,198-34,100,351 , GRCh38.p12 chr21: 32,638,888-32,728,040	PAXBP1-AS1, SYNJ1
nsv4682893	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr21: 34,000,069-34,101,351 , GRCh38.p12 chr21: 32,627,759-32,729,040	PAXBP1-AS1, SYNJ1
nsv3877508	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr21: 33,974,153-34,100,371 , GRCh38.p12 chr21: 32,601,843-32,728,060	CFAP298, SYNJ1, 3 more genes
nsv3923176	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352	PAXBP1, COL18A1-AS2, 682 more genes
nsv3905423	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014	PAXBP1, MTND5P1, 581 more genes
nsv3917693	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,749,532-37,653,653 , GRCh37 chr21: 15,451,032-39,025,955 , NCBI36 chr21: 14,372,903-37,947,825	PAXBP1, DPRXP5, 448 more genes
nsv3897196	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 29,880,468-36,062,331 , NCBI36 chr21: 28,802,339-34,984,201 , GRCh38.p12 chr21: 28,508,147-34,690,032	PAXBP1, LOC105369299, 150 more genes
nsv4676196	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 31,711,916-34,632,473 , GRCh38.p12 chr21: 30,339,598-33,260,168	PAXBP1, OLIG2, 83 more genes
nsv4684072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 33,205,064-36,039,022 , GRCh38.p12 chr21: 31,832,752-34,666,723	PAXBP1, LOC101928107, 62 more genes
nsv4352428	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 32,589,903-35,359,935 , GRCh38.p12 chr21: 31,217,587-33,987,634	PAXBP1, LOC105377136, 59 more genes
nsv3902283	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 32,578,640-35,060,092 , GRCh38.p12 chr21: 31,206,324-33,687,787	PAXBP1, HUNK, 54 more genes
nsv6314844	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 32,213,458-34,373,118 , GRCh37.p13 chr21: 33,585,770-35,745,417	PAXBP1, CFAP298, 53 more genes
nsv3914461	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 7,749,532-46,698,247 , GRCh37 chr21: 14,577,835-48,118,159 , NCBI36 chr21: 13,499,706-46,942,587	PAXBP1, LINC00945, 686 more genes
nsv3916732	copy number variation	4	nstd102	human	Uncertain significance, Pathogenic	GRCh38 chr21: 7,749,532-46,677,460 , GRCh37 chr21: 15,006,458-48,097,372 , NCBI36 chr21: 13,928,329-46,921,800	PAXBP1, MIR6724-4, 685 more genes
nsv3917878	copy number variation	4	nstd102	human	Pathogenic	NCBI36 chr21: 14,372,903-46,915,400 , GRCh38 chr21: 7,749,532-46,671,060 , GRCh37 chr21: 15,451,032-48,090,972	PAXBP1, POLR2CP1, 685 more genes
nsv3921828	copy number variation	2	nstd102	human	Pathogenic	NCBI36 chr21: 14,435,115-46,914,780 , GRCh38 chr21: 7,749,532-46,670,440 , GRCh37 chr21: 15,513,244-48,090,352	PAXBP1, U2AF1, 685 more genes
nsv3921603	copy number variation	4	nstd102	human	Pathogenic	GRCh38 chr21: 7,749,532-46,670,405 , GRCh37 chr21: 15,499,847-48,090,317 , NCBI36 chr21: 14,421,718-46,914,745	PAXBP1, KRTAP12-3, 685 more genes
nsv3915086	copy number variation	2	nstd102	human	Pathogenic	NCBI36 chr21: 13,499,765-46,914,686 , GRCh37 chr21: 14,577,894-48,090,258 , GRCh38 chr21: 7,749,532-46,670,346	PAXBP1, LINC01668, 685 more genes
nsv3914890	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 14,406,909-46,908,590 , GRCh38 chr21: 7,749,532-46,664,250 , GRCh37 chr21: 15,485,038-48,084,162	PAXBP1, DONSON, 685 more genes
nsv3915463	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,499,847-48,081,052 , GRCh38 chr21: 7,749,532-46,661,140 , NCBI36 chr21: 14,421,718-46,905,480	PAXBP1, LOC105372745, 685 more genes

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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 50

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Number of Variants: 20

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Supplemental Content

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