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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074641inversion1nstd229human GRCh38 chr12: 52,659,002-59,632,575 , GRCh37.p13 chr12: 53,052,786-60,026,356 , LOC105369777, 292 more genes
    nsv7069901inversion1nstd229human GRCh38 chr12: 51,176,082-54,825,440 , GRCh37.p13 chr12: 51,569,865-55,219,224 , HOXC5, 158 more genes
    nsv6935934copy number variation1nstd229human GRCh38 chr12: 53,238,001-53,281,400 , GRCh37.p13 chr12: 53,631,785-53,675,184 ESPL1, MFSD5
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132426copy number variation1nstd213human GRCh37 chr12: 52,740,000-55,260,001 , GRCh38.p12 chr12: 52,346,216-54,866,217 , HOXC4, 122 more genes
    nsv5495210copy number variation1nstd206human GRCh38 chr12: 53,244,328-53,250,526 , GRCh37.p13 chr12: 53,638,112-53,644,310 MFSD5
    nsv5266008copy number variation1nstd204human GRCh38.p13 chr12: 53,248,501-53,495,800 , GRCh37.p13 chr12: 53,642,285-53,889,584 PCBP2, AAAS, 11 more genes
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4729204copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 53,614,278-53,971,802 , GRCh38.p12 chr12: 53,220,494-53,578,018 AMHR2, PCBP2, 18 more genes
    nsv4729090copy number variation1nstd102humanUncertain significance GRCh37 chr12: 53,372,321-53,864,490 , GRCh38.p12 chr12: 52,978,537-53,470,706 SPRYD3, ITGB7, 25 more genes
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3924873copy number variation1nstd102humanPathogenic GRCh38 chr12: 53,224,024-54,222,450 , GRCh37 chr12: 53,617,808-54,616,234 , NCBI36 chr12: 51,904,075-52,902,501 , PFDN5, 51 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3917346copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 51,531,901-52,238,875 , GRCh37 chr12: 53,245,634-53,952,608 , GRCh38 chr12: 52,851,850-53,558,824 AMHR2, EIF4B, 35 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
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