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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5932884copy number variation1nstd209human GRCh38 chr12: 48,105,909-48,119,824 , GRCh37.p13 chr12: 48,499,692-48,513,607 PFKM, SENP1
    nsv5853442copy number variation1nstd209human GRCh38 chr12: 48,116,035-48,119,842 , GRCh37.p13 chr12: 48,509,818-48,513,625 PFKM
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5512307copy number variation1nstd206human GRCh38 chr12: 48,143,071-48,364,591 , GRCh37.p13 chr12: 48,536,854-48,758,374 LOC100533659, PHB1P18, 10 more genes
    nsv5380901copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,240,430-48,539,491 , GRCh38.p12 chr12: 47,846,647-48,145,708 LOC105369750, SENP1, 9 more genes
    nsv5199602mobile element insertion1nstd203human GRCh38 chr12: 48,118,424-48,118,424 , GRCh37.p13 chr12: 48,512,207-48,512,207 PFKM
    nsv5125081mobile element insertion1nstd203human GRCh38 chr12: 48,135,912-48,135,928 , GRCh37.p13 chr12: 48,529,695-48,529,711 PFKM
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4972511copy number variation1nstd200human GRCh38 chr12: 48,115,494-48,117,916 , GRCh37.p13 chr12: 48,509,277-48,511,699 PFKM
    nsv4972510copy number variation1nstd200human GRCh38 chr12: 48,102,445-48,104,203 , GRCh37.p13 chr12: 48,496,228-48,497,986 SENP1, PFKM
    nsv4846546copy number variation1nstd200human GRCh37 chr12: 48,509,277-48,511,699 , GRCh38.p12 chr12: 48,115,494-48,117,916 PFKM
    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
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4206943copy number variation1nstd166human GRCh37.p13 chr12: 48,525,974-48,526,127 , GRCh38.p12 chr12: 48,132,191-48,132,344 MIR6505, PFKM
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 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
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
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