nrip1[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
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	NRIP1, 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	NRIP1, 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	NRIP1, DPRXP5, 448 more genes
nsv3922838	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 10,366,915-27,611,416 , GRCh37.p13 chr21: 14,338,130-28,983,735	NRIP1, RN7SL163P, 178 more genes
nsv3916181	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 14,000,720-30,903,065 , GRCh37 chr21: 15,373,041-32,275,384 , NCBI36 chr21: 14,294,912-31,197,255	NRIP1, ADAMTS5, 215 more genes
nsv3920431	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 13,488,537-29,551,400 , GRCh37 chr21: 14,566,666-30,629,529 , GRCh38 chr21: 13,194,345-29,257,208	NRIP1, ZNF114P1, 189 more genes
nsv4676306	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605	NRIP1, JAM2, 161 more genes
nsv3921072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,458-29,235,160 , GRCh38 chr21: 13,634,137-27,862,841 , NCBI36 chr21: 13,928,329-28,157,031	NRIP1, CYYR1-AS1, 161 more genes
nsv3909006	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,457-29,225,300 , GRCh38.p12 chr21: 13,634,136-27,852,981	NRIP1, LOC105372738, 161 more genes
nsv3917277	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 13,974,874-27,814,120 , GRCh37.p13 chr21: 15,347,195-29,186,439	NRIP1, SREK1IP1P1, 141 more genes
nsv3897353	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,457-25,292,671 , GRCh38.p12 chr21: 13,634,136-23,920,355	NRIP1, LOC105372740, 117 more genes
nsv4676170	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr21: 15,006,457-24,522,577 , GRCh38.p12 chr21: 13,634,136-23,150,255	NRIP1, FDPSP6, 108 more genes
nsv3914189	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 14,406,909-21,591,464 , GRCh38 chr21: 14,112,717-21,297,273 , GRCh37 chr21: 15,485,038-22,669,593	NRIP1, GAPDHP16, 69 more genes
nsv3911400	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 14,127,526-19,238,720 , GRCh37 chr21: 15,499,847-20,611,037 , NCBI36 chr21: 14,421,718-19,532,908	NRIP1, RPL39P40, 52 more genes
nsv3914745	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 13,634,136-18,211,199 , GRCh37 chr21: 15,006,457-19,583,516 , NCBI36 chr21: 13,928,328-18,505,387	NRIP1, LOC105372738, 74 more genes
nsv3919632	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr21: 14,314,039-18,419,240 , GRCh37 chr21: 15,392,168-19,497,369 , GRCh38 chr21: 14,019,847-18,125,051	NRIP1, RPL39P40, 51 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	NRIP1, 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	NRIP1, 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	NRIP1, 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	NRIP1, U2AF1, 685 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 62

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Number of Variants: 20

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