c1orf50[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 11

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Number of Variants: 11

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3892747	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040	C1ORF50, ERMAP, 116 more genes
nsv3900473	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363	C1ORF50, KDM4A, 102 more genes
nsv3908884	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 41,300,076-43,588,742 , GRCh38 chr1: 40,834,404-43,123,071 , NCBI36 chr1: 41,072,663-43,361,329	C1ORF50, PPCS, 46 more genes
nsv3870704	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 42,914,303-45,001,279 , GRCh38.p12 chr1: 42,448,632-44,535,607	C1ORF50, TMEM269-DT, 74 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	C1ORF50, 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	C1ORF50, 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	C1ORF50, RNU1-153P, 4887 more genes
nsv6313688	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139	C1ORF50, LOC107984940, 407 more genes
nsv3892850	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 42,891,643-43,332,087 , GRCh37 chr1: 43,119,056-43,559,500 , GRCh38 chr1: 42,653,385-43,093,829	C1ORF50, YBX1, 17 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	C1ORF50, LINC01776, 1853 more genes
nsv3878135	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841	C1ORF50, LINC02786, 365 more genes

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