hmbs[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
nsv4681513	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 118,955,323-118,956,445 , GRCh38.p12 chr11: 119,084,613-119,085,735 , GRCh38.p12 chr11\|NW_009646203.1: 106,212-107,334	HMBS
nsv6309100	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 118,955,589-118,955,796 , GRCh38.p12 chr11: 119,084,879-119,085,086 , GRCh38.p12 chr11\|NW_009646203.1: 106,478-106,685	HMBS
nsv7093922	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 118,955,303-118,956,445 , GRCh38.p12 chr11\|NW_009646203.1: 106,192-107,334 , GRCh38.p12 chr11: 119,084,593-119,085,735	HMBS
nsv4681127	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 118,958,944-118,964,270 , GRCh38.p12 chr11: 119,088,234-119,093,560	HMBS, H2AX
nsv4682533	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 118,962,110-118,964,270 , GRCh38.p12 chr11: 119,091,400-119,093,560	HMBS, H2AX
nsv4683551	copy number variation	9	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr11: 117,856,768-118,972,385 , GRCh38.p12 chr11: 117,986,053-119,101,675	HMBS, MIR6716, 48 more genes
nsv3893233	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 70,864-134,938,470 , GRCh38.p12 chr11: 70,864-135,068,576	HMBS, LOC105376598, 2842 more genes
nsv3900144	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169	HMBS, RTN3, 2833 more genes
nsv3908873	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576	HMBS, IGHMBP2, 2829 more genes
nsv6315537	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 32,799,481-134,938,470 , GRCh38.p12 chr11: 32,777,935-135,068,576	HMBS, PYGM, 2125 more genes
nsv3922253	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 100,219,331-134,910,140 , NCBI36 chr11: 99,724,541-134,415,350 , GRCh38 chr11: 100,348,599-135,040,246	HMBS, RPS27P19, 655 more genes
nsv6289927	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 104,288,964-134,937,416 , GRCh38.p12 chr11: 104,418,236-135,067,522	HMBS, IGSF9B, 592 more genes
nsv3912905	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 112,864,326-131,189,315 , GRCh37 chr11: 112,832,130-131,059,210 , NCBI36 chr11: 112,240,259-130,564,420	HMBS, SLC37A2, 416 more genes
nsv3911830	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 116,182,194-134,450,377 , GRCh37 chr11: 116,676,984-134,945,165 , GRCh38 chr11: 116,806,268-135,075,271	HMBS, ACRV1, 395 more genes
nsv3895832	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr11: 116,681,007-134,938,470 , GRCh38.p12 chr11: 116,810,291-135,068,576	HMBS, LOC107984400, 394 more genes
nsv3893703	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 116,697,066-134,934,063 , GRCh38.p12 chr11: 116,826,350-135,064,169	HMBS, APOA1-AS, 393 more genes
nsv3911440	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 116,244,861-134,450,377 , GRCh37 chr11: 116,739,651-134,945,165 , GRCh38 chr11: 116,868,935-135,075,271	HMBS, RN7SL688P, 391 more genes
nsv4349045	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 116,700,253-134,904,063 , GRCh38.p12 chr11: 116,829,537-135,034,169	HMBS, MPZL3, 393 more genes
nsv4349506	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 116,691,675-134,889,485 , GRCh38.p12 chr11: 116,820,959-135,019,591	HMBS, LOC107984407, 394 more genes
nsv3923375	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 116,722,088-134,868,420 , NCBI36 chr11: 116,227,298-134,373,630 , GRCh38 chr11: 116,851,372-134,998,526	HMBS, VPS26B, 390 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 38

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Number of Variants: 20

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Supplemental Content

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Search details

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