plekhb2[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
nsv3873254	copy number variation	1	nstd102	human	Benign	GRCh37 chr2: 131,858,430-131,907,307 , GRCh38.p12 chr2: 131,100,857-131,149,734	PLEKHB2
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	PLEKHB2, DAZAP2P1, 2991 more genes
nsv6290867	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060	PLEKHB2, RNU6-675P, 300 more genes
nsv3876229	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 120,571,363-141,627,287 , GRCh38.p12 chr2: 119,813,787-140,869,718	PLEKHB2, MIR9986, 320 more genes
nsv3897428	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 123,445,762-140,592,538 , NCBI36 chr2: 123,919,808-141,066,577 , GRCh37 chr2: 124,203,338-141,350,107	PLEKHB2, ARHGAP42P2, 278 more genes
nsv3894414	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 118,843,900-135,722,308 , GRCh38 chr2: 118,086,324-134,964,738 , NCBI36 chr2: 118,560,370-135,438,778	PLEKHB2, RHOQP2, 287 more genes
nsv4347225	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 131,487,820-132,166,509 , GRCh38.p12 chr2: 130,730,247-131,408,936	PLEKHB2, NEK2P4, 34 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	PLEKHB2, 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	PLEKHB2, 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	PLEKHB2, 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	PLEKHB2, MTND2P22, 3724 more genes
nsv6291353	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036	PLEKHB2, LINC01120, 490 more genes
nsv6314748	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432	PLEKHB2, MED15P9, 474 more genes
nsv3878867	copy number variation	2	nstd102	human	Uncertain significance, Likely pathogenic	GRCh38.p12 chr2: 130,720,374-131,198,943 , GRCh37 chr2: 131,477,947-131,956,516	PLEKHB2, ARHGEF4, 6 more genes
nsv3885911	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38.p12 chr2: 130,720,374-131,192,956 , GRCh37 chr2: 131,477,947-131,950,529	PLEKHB2, ARHGEF4, 6 more genes
nsv3875915	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38.p12 chr2: 130,720,374-131,176,003 , GRCh37 chr2: 131,477,947-131,933,576	PLEKHB2, ARHGEF4, 5 more genes
nsv4347224	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38.p12 chr2: 130,729,378-131,176,055 , GRCh37 chr2: 131,486,951-131,933,628	PLEKHB2, ARHGEF4, 5 more genes
nsv3875104	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr2: 130,725,519-131,168,548 , GRCh37.p13 chr2: 131,483,092-131,926,121	PLEKHB2, ARHGEF4, 4 more genes
nsv6314726	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196	PLEKHB2, ACTG2, 1713 more genes
nsv4684238	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785	PLEKHB2, BIN1, 211 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 62

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Number of Variants: 20

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