polr2d[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
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	POLR2D, 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	POLR2D, 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	POLR2D, 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	POLR2D, 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	POLR2D, RHOQP2, 287 more genes
nsv3892279	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130	POLR2D, MAP3K2, 144 more genes
nsv3907989	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 121,824,798-128,870,804 , GRCh37 chr2: 122,582,374-129,628,378 , NCBI36 chr2: 122,298,844-129,344,848	POLR2D, AMMECR1L, 69 more genes
nsv3899901	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 123,081,919-129,129,278 , NCBI36 chr2: 122,798,389-128,845,748 , GRCh38 chr2: 122,324,343-128,371,704	POLR2D, TEX51, 63 more genes
nsv3898212	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 123,644,035-128,934,119 , GRCh38 chr2: 123,169,989-128,460,075 , GRCh37 chr2: 123,927,565-129,217,649	POLR2D, RNA5SP103, 59 more genes
nsv7095853	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 127,451,420-129,076,137 , GRCh38.p12 chr2: 126,693,844-128,318,563	POLR2D, SRMP3, 41 more genes
nsv7096197	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 127,806,102-129,076,137 , GRCh38.p12 chr2: 127,048,526-128,318,563	POLR2D, IWS1, 35 more genes
nsv6315390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305	POLR2D, 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	POLR2D, 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	POLR2D, 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	POLR2D, 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	POLR2D, 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	POLR2D, MED15P9, 474 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	POLR2D, 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	POLR2D, BIN1, 211 more genes
nsv3901803	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr2: 123,321,402-130,019,624 , GRCh37 chr2: 123,604,932-130,303,154 , GRCh38 chr2: 122,847,356-129,545,581	POLR2D, BIN1, 68 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 26

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

Recent activity