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Items: 1 to 20 of 251

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv6678057copy number variation1nstd229human GRCh38 chr1: 214,297,846-214,300,526 , GRCh37.p13 chr1: 214,471,189-214,473,869 SMYD2
    nsv6675965copy number variation1nstd229human GRCh38 chr1: 214,302,801-214,307,600 , GRCh37.p13 chr1: 214,476,144-214,480,943 SMYD2
    nsv6675335copy number variation1nstd229human GRCh38 chr1: 214,329,332-214,332,840 , GRCh37.p13 chr1: 214,502,675-214,506,183 SMYD2
    nsv6673886copy number variation1nstd229human GRCh38 chr1: 214,323,107-214,323,593 , GRCh37.p13 chr1: 214,496,450-214,496,936 SMYD2
    nsv6673213copy number variation1nstd229human GRCh38 chr1: 214,284,901-214,288,300 , GRCh37.p13 chr1: 214,458,244-214,461,643 SMYD2
    nsv6672123copy number variation1nstd229human GRCh38 chr1: 214,296,739-214,296,789 , GRCh37.p13 chr1: 214,470,082-214,470,132 SMYD2
    nsv6670948copy number variation1nstd229human GRCh38 chr1: 214,283,764-214,287,875 , GRCh37.p13 chr1: 214,457,107-214,461,218 SMYD2
    nsv6667162copy number variation1nstd229human GRCh38 chr1: 214,261,101-214,419,000 , GRCh37.p13 chr1: 214,434,444-214,592,343 SMYD2, PTPN14
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6541934inversion1nstd223human GRCh38 chr1: 214,286,627-214,287,063 , GRCh37.p13 chr1: 214,459,970-214,460,406 SMYD2
    nsv6537688inversion1nstd223human GRCh38 chr1: 214,293,697-214,294,666 , GRCh37.p13 chr1: 214,467,040-214,468,009 SMYD2
    nsv6331472copy number variation1nstd223human GRCh38 chr1: 214,296,739-214,296,788 , GRCh37.p13 chr1: 214,470,082-214,470,131 SMYD2
    nsv6330743copy number variation1nstd223human GRCh38 chr1: 214,297,846-214,300,521 , GRCh37.p13 chr1: 214,471,189-214,473,864 SMYD2
    nsv6314873copy number variation1nstd102humanUncertain significance GRCh38 chr1: 213,953,922-214,511,394 , GRCh37.p13 chr1: 214,127,265-214,684,737 PTPN14, SMYD2, 4 more genes
    nsv6133853copy number variation1nstd213human GRCh37 chr1: 214,510,000-214,600,001 , GRCh38.p12 chr1: 214,336,657-214,426,658 PTPN14, SMYD2
    nsv6133852copy number variation1nstd213human GRCh37 chr1: 214,390,000-214,510,001 , GRCh38.p12 chr1: 214,216,657-214,336,658 SMYD2
    nsv6133753copy number variation1nstd213human GRCh37 chr1: 210,410,000-214,880,001 , GRCh38.p12 chr1: 210,236,655-214,706,658 NEK2, PPP2R5A, 73 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
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