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

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Number of Variants: 12

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3910212	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr5: 70,951,984-71,056,723 , GRCh37 chr5: 70,916,228-71,020,967 , GRCh38 chr5: 71,620,401-71,725,140	CARTPT, MCCC2
nsv6290752	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 70,907,495-71,054,732 , GRCh38.p12 chr5: 71,611,668-71,758,905	CARTPT, MCCC2, 1 more genes
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	CARTPT, MEGF10, 2080 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	CARTPT, 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	CARTPT, 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	CARTPT, SPEF2, 2490 more genes
nsv3911585	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr5: 75,149-73,744,306 , GRCh38 chr5: 22,149-74,412,725 , GRCh37 chr5: 22,149-73,708,550	CARTPT, LINC02241, 878 more genes
nsv4578696	copy number variation	1	nstd102	human	Likely pathogenic	GRCh38 chr5: 58,780,641-73,523,380 , GRCh37.p13 chr5: 58,076,468-72,819,205	CARTPT, TRIM23, 215 more genes
nsv4436202	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 14,685,137-149,511,942 , GRCh38.p12 chr5: 14,685,028-150,132,379	CARTPT, RNU1-150P, 1757 more genes
nsv4455288	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 70,986,021-71,494,025 , GRCh38.p12 chr5: 71,690,194-72,198,198	CARTPT, LOC105379027, 5 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	CARTPT, LOC105378993, 2492 more genes
nsv6290903	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr5: 70,613,836-71,265,263 , GRCh38.p12 chr5: 71,318,009-71,969,436	CARTPT, LOC100419852, 9 more genes

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cartpt[All Fields] AND 1[has_clinical] (13)
dbVar
GDP-fucose protein O-fucosyltransferase 1 isoform 2 precursor [Homo sapiens]
GDP-fucose protein O-fucosyltransferase 1 isoform 2 precursor [Homo sapiens]
gi|27436891|ref|NP_758436.1|

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