snrnp40[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 15

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Number of Variants: 15

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3891425	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 28,623,965-33,361,042 , GRCh37 chr1: 28,751,378-33,588,455 , GRCh38 chr1: 28,424,867-33,122,854	SNRNP40, SNHG3, 115 more genes
nsv3895257	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 31,239,605-33,825,029 , NCBI36 chr1: 31,012,192-33,597,616 , GRCh38 chr1: 30,766,758-33,359,428	SNRNP40, LOC105378623, 85 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	SNRNP40, 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	SNRNP40, 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	SNRNP40, RNU1-153P, 4887 more genes
nsv3901163	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937	SNRNP40, TMEM222, 453 more genes
nsv3874782	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357	SNRNP40, LOC101929444, 143 more genes
nsv3907483	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233	SNRNP40, ATP5IF1, 138 more genes
nsv3905012	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 31,122,108-32,402,160 , GRCh37 chr1: 31,594,955-32,867,761 , NCBI36 chr1: 31,367,542-32,640,348	SNRNP40, LDC1P, 42 more genes
nsv4674454	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818	SNRNP40, AK2, 97 more genes
nsv6290625	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 31,766,058-31,921,862 , GRCh38.p12 chr1: 31,293,211-31,449,015	SNRNP40, FABP3, 4 more genes
nsv3902284	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 31,057,393-31,648,206 , GRCh37 chr1: 31,284,806-31,872,758 , GRCh38 chr1: 30,811,959-31,402,772	SNRNP40, SNORD103A, 16 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	SNRNP40, LINC01776, 1853 more genes
nsv6313753	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520	SNRNP40, DCDC2B, 130 more genes
nsv3908863	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 31,337,689-32,486,842 , NCBI36 chr1: 31,110,276-32,259,429 , GRCh38 chr1: 30,864,842-32,021,241	SNRNP40, LOC107984935, 32 more genes

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