psmb4[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 18

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Number of Variants: 18

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6315165	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 151,372,064-151,384,872 , GRCh38.p12 chr1: 151,399,588-151,412,396	PSMB4, POGZ
nsv6310726	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 151,372,055-151,374,305 , GRCh38.p12 chr1: 151,399,579-151,401,829	PSMB4, POGZ
nsv3880089	copy number variation	1	nstd102	human	Benign	GRCh37 chr1: 151,349,174-151,428,605 , GRCh38.p12 chr1: 151,376,698-151,456,129	PSMB4, RNY4P25, 1 more genes
nsv3896624	copy number variation	1	nstd102	human	Benign	NCBI36 chr1: 149,599,748-149,666,584 , GRCh37 chr1: 151,333,124-151,399,960 , GRCh38 chr1: 151,360,648-151,427,484	PSMB4, POGZ, 1 more genes
nsv3886012	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr1: 151,336,508-151,399,970 , GRCh38.p12 chr1: 151,364,032-151,427,494	PSMB4, SELENBP1, 1 more genes
nsv3879739	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr1: 149,599,791-149,671,472 , GRCh37.p13 chr1: 151,333,167-151,404,848 , GRCh38.p12 chr1: 151,360,691-151,432,372	PSMB4, POGZ, 1 more genes
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	PSMB4, CRB1, 1608 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	PSMB4, 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	PSMB4, 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	PSMB4, 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	PSMB4, 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	PSMB4, 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	PSMB4, LCE1F, 197 more genes
nsv3907566	copy number variation	1	nstd102	human	Likely pathogenic	NCBI36 chr1: 149,228,433-149,823,877 , GRCh37 chr1: 150,961,809-151,557,253 , GRCh38 chr1: 150,989,333-151,584,777	PSMB4, PI4KB, 31 more genes
nsv3871409	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 151,179,825-151,377,786 , GRCh38.p12 chr1: 151,207,349-151,405,310	PSMB4, ZNF687, 9 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	PSMB4, 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	PSMB4, PRPF3, 352 more genes
nsv5381206	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 151,122,490-151,585,008 , GRCh38.p12 chr1: 151,150,014-151,612,532	PSMB4, CGN, 21 more genes

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