slc25a39[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
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	SLC25A39, PRPSAP1, 1350 more genes
nsv3919609	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 41,648,246-42,839,745 , GRCh38 chr17: 43,570,878-44,762,377 , NCBI36 chr17: 39,003,772-40,195,271	SLC25A39, SMCO4P1, 59 more genes
nsv3910801	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,011,535-42,931,393 , GRCh38 chr17: 43,934,167-44,854,025 , NCBI36 chr17: 39,367,061-40,286,919	SLC25A39, G6PC3, 46 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	SLC25A39, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	SLC25A39, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	SLC25A39, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	SLC25A39, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	SLC25A39, LOC105371922, 1855 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	SLC25A39, RNU6-131P, 1075 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	SLC25A39, PLEKHH3, 958 more genes
nsv3911344	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 37,356,126-43,706,945 , NCBI36 chr17: 34,609,652-41,062,728 , GRCh38 chr17: 39,199,873-45,629,579	SLC25A39, IFI35, 345 more genes
nsv4681862	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 42,105,175-42,430,244 , GRCh38.p12 chr17: 44,027,807-44,352,876	SLC25A39, G6PC3, 21 more genes

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slc25a39[All Fields] AND 1[has_clinical] (13)
dbVar
PREDICTED: Oncorhynchus nerka aspartyl/asparaginyl beta-hydroxylase-like (LOC115...
PREDICTED: Oncorhynchus nerka aspartyl/asparaginyl beta-hydroxylase-like (LOC115103174), transcript variant X6, misc_RNA
gi|2727857327|ref|XR_010460234.1|

Nucleotide
AT1G22080 [Arabidopsis thaliana]
AT1G22080 [Arabidopsis thaliana]
Gene ID:838813

Gene

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