polr2g[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5380796	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397	POLR2G, FAUP4, 2031 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	POLR2G, 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	POLR2G, 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	POLR2G, 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	POLR2G, PYGM, 2125 more genes
nsv3912559	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 62,249,520-62,946,093 , GRCh37 chr11: 62,016,992-62,713,565 , NCBI36 chr11: 61,773,568-62,470,141	POLR2G, SNORD28, 53 more genes
nsv3922416	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr11: 62,433,886-63,096,003 , NCBI36 chr11: 61,957,934-62,620,051 , GRCh37 chr11: 62,201,358-62,863,475	POLR2G, TAF6L, 51 more genes
nsv3913554	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr11: 61,976,619-62,386,829 , GRCh37 chr11: 62,220,043-62,630,253 , GRCh38 chr11: 62,452,571-62,862,781	POLR2G, NXF1, 43 more genes
nsv3909634	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr11: 61,840,997-62,987,330 , GRCh38.p12 chr11: 62,073,525-63,219,858	POLR2G, CHRM1, 66 more genes
nsv7093694	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr11: 58,916,346-64,972,349 , GRCh38.p12 chr11: 59,148,873-65,204,878	POLR2G, VPS37C, 298 more genes
nsv4455787	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 62,314,663-62,788,240 , GRCh38.p12 chr11: 62,547,191-63,020,768	POLR2G, TTC9C, 48 more genes
nsv4456974	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 62,487,052-62,788,240 , GRCh38.p12 chr11: 62,719,580-63,020,768	POLR2G, RN7SL259P, 29 more genes
nsv3911700	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr11: 62,330,308-62,608,042 , GRCh38 chr11: 62,562,836-62,840,570 , NCBI36 chr11: 62,086,884-62,364,618	POLR2G, TAF6L, 32 more genes

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polr2g[All Fields] AND 1[has_clinical] (14)
dbVar
Embryonic primary cortical neuron response to knockdown of multiple autism candi...
Embryonic primary cortical neuron response to knockdown of multiple autism candidate genes
Accession: GDS4759

GEO DataSets
Related DataSets for GEO Profiles (Select 101878608) (1)
GEO DataSets
activator of 90 kDa heat shock protein ATPase homolog 1 isoform 1 [Mus musculus]
activator of 90 kDa heat shock protein ATPase homolog 1 isoform 1 [Mus musculus]
gi|22122515|ref|NP_666148.1|

Protein
Limitation of joint mobility
Limitation of joint mobility

MedGen

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