g3bp1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 17

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Number of Variants: 17

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3889848	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719	G3BP1, MEGF10, 2080 more genes
nsv3884357	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 86,400,000-154,000,000 , GRCh38.p12 chr5: 87,104,183-154,620,440	G3BP1, TXNDC15, 962 more genes
nsv3912937	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 105,955,289-155,551,397 , NCBI36 chr5: 105,983,188-155,483,975 , GRCh38 chr5: 106,619,588-156,124,387	G3BP1, LINC01023, 783 more genes
nsv3886374	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 13,648-180,905,029 , GRCh38.p12 chr5: 13,648-181,478,028	G3BP1, LOC105374618, 2499 more genes
nsv3871533	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 25,328-180,693,344 , GRCh38.p12 chr5: 25,329-181,266,343	G3BP1, PCDHGC5, 2492 more genes
nsv3875235	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr5: 113,577-180,719,789 , GRCh38.p12 chr5: 113,462-181,292,788	G3BP1, SPEF2, 2490 more genes
nsv3874238	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 106,716,357-180,687,338 , GRCh38.p12 chr5: 107,380,656-181,260,337	G3BP1, PJA2, 1228 more genes
nsv6315448	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 149,010,383-180,719,789 , GRCh38.p12 chr5: 149,630,820-181,292,788	G3BP1, GRM6, 554 more genes
nsv3921182	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 149,094,155-180,699,152 , GRCh38 chr5: 149,714,592-181,272,151 , NCBI36 chr5: 149,074,348-180,631,758	G3BP1, RN7SKP148, 553 more genes
nsv3878636	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 130,125,085-157,574,910 , GRCh38.p12 chr5: 130,789,392-158,147,902	G3BP1, LOC100288484, 551 more genes
nsv3923414	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 130,196,621-154,701,371 , NCBI36 chr5: 130,224,520-154,681,564 , GRCh38 chr5: 130,860,928-155,321,811	G3BP1, HNRNPA3P7, 514 more genes
nsv3914009	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 129,211,386-152,713,299 , GRCh38 chr5: 129,847,794-153,353,546 , GRCh37 chr5: 129,183,487-152,733,106	G3BP1, UQCRQ, 489 more genes
nsv6636891	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr5: 150,535,183-172,906,793 , GRCh38.p12 chr5: 151,155,622-173,479,790	G3BP1, EFCAB9, 287 more genes
nsv3914878	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 146,520,648-163,194,778 , GRCh37.p13 chr5: 146,540,455-163,262,200 , GRCh38.p12 chr5: 147,160,892-163,835,194	G3BP1, LOC105378231, 247 more genes
nsv3884275	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr5: 94,844,077-178,830,410 , GRCh38.p12 chr5: 95,508,373-179,403,409	G3BP1, LOC107986368, 1258 more genes
nsv3912593	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr5: 332,389-180,837,866 , GRCh37.p13 chr5: 279,389-180,905,260 , GRCh38.p12 chr5: 279,274-181,478,259	G3BP1, LOC105378993, 2492 more genes
nsv7097027	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 150,885,126-151,304,110 , GRCh38.p12 chr5: 151,505,565-151,924,549	G3BP1, CLMAT3, 14 more genes

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g3bp1[All Fields] AND 1[has_clinical] (18)
dbVar
MULTISPECIES: DNA-binding transcriptional regulator Fis [Alteromonas]
MULTISPECIES: DNA-binding transcriptional regulator Fis [Alteromonas]
gi|501512172|ref|WP_012520109.1|

Protein
probable serine/threonine protein kinase IREH1 isoform X1 [Vitis vinifera]
probable serine/threonine protein kinase IREH1 isoform X1 [Vitis vinifera]
gi|731426717|ref|XP_010663711.1|

Protein
serine/threonine-protein kinase SAPK2 [Vitis vinifera]
serine/threonine-protein kinase SAPK2 [Vitis vinifera]
gi|359492886|ref|XP_003634478.1|

Protein
cyclin-dependent kinase F-4 [Vitis vinifera]
cyclin-dependent kinase F-4 [Vitis vinifera]
gi|731381914|ref|XP_010665218.1|

Protein

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