hp1bp3[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
nsv6137724	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099	HP1BP3, PADI1, 176 more genes
nsv3899287	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349	HP1BP3, EMC1-AS1, 166 more genes
nsv4728309	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371	HP1BP3, RNU1-6P, 150 more genes
nsv4728344	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002	HP1BP3, NBL1, 98 more genes
nsv3890174	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 18,674,315-22,839,387 , NCBI36 chr1: 18,546,902-22,711,974 , GRCh38 chr1: 18,347,821-22,512,894	HP1BP3, HTR6, 103 more genes
nsv3907378	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 20,482,657-21,271,999 , NCBI36 chr1: 20,681,737-21,471,079 , GRCh37 chr1: 20,809,150-21,598,492	HP1BP3, RPS4XP4, 18 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	HP1BP3, 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	HP1BP3, 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	HP1BP3, RNU1-153P, 4887 more genes
nsv3892078	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 19,548,795-20,935,131 , GRCh37 chr1: 19,875,289-21,261,624 , NCBI36 chr1: 19,747,876-21,134,211	HP1BP3, PINK1-AS, 39 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	HP1BP3, LINC01776, 1853 more genes
nsv7095949	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 19,199,339-24,690,861 , GRCh38.p12 chr1: 18,872,845-24,364,371	HP1BP3, RPL29P6, 156 more genes
nsv7095496	copy number variation	3	nstd102	human	Uncertain significance	GRCh37 chr1: 19,199,339-22,987,879 , GRCh38.p12 chr1: 18,872,845-22,661,386	HP1BP3, RN7SL277P, 103 more genes
nsv4436680	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269	HP1BP3, ALPL, 636 more genes
nsv4436486	complex substitution	1	nstd102	human	Uncertain significance	GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269	HP1BP3, ALPL, 174 more genes

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hp1bp3[All Fields] AND 1[has_clinical] (16)
dbVar
24973[HGNC] (39)
ClinVar

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