c1orf43[All Fields] AND 1[has_clinical] - dbVar - NCBI

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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
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	C1ORF43, CRB1, 1608 more genes
nsv7095320	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 153,963,273-154,580,482 , GRCh38.p12 chr1: 153,990,797-154,608,006	C1ORF43, RNU6-239P, 30 more genes
nsv4346764	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 153,701,504-154,218,584 , GRCh38.p12 chr1: 153,729,028-154,246,108	C1ORF43, GATAD2B, 23 more genes
nsv3903470	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 153,759,563-154,219,803 , NCBI36 chr1: 151,998,663-152,458,903 , GRCh37 chr1: 153,732,039-154,192,279	C1ORF43, RN7SL431P, 23 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	C1ORF43, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	C1ORF43, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	C1ORF43, RNU1-153P, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	C1ORF43, LOC101060227, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	C1ORF43, HORMAD1, 923 more genes
nsv3877540	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310	C1ORF43, LCE1F, 197 more genes
nsv3917016	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925	C1ORF43, SMU1P1, 152 more genes
nsv3870644	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670	C1ORF43, ADAR, 145 more genes
nsv3909898	inversion	1	nstd102	human	Likely pathogenic	GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877	C1ORF43, ADAR, 136 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	C1ORF43, DCST1, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	C1ORF43, PRPF3, 352 more genes
nsv6310523	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 154,141,761-156,851,434 , GRCh38.p12 chr1: 154,169,285-156,881,642	C1ORF43, MIR555, 135 more genes
nsv4673922	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 153,659,094-154,307,972 , GRCh38.p12 chr1: 153,686,618-154,335,496	C1ORF43, GATAD2B, 33 more genes

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