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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5714899mobile element insertion1nstd211human GRCh38 chr12: 47,709,005-47,709,005 , GRCh37.p13 chr12: 48,102,788-48,102,788 RPAP3-DT, ENDOU
    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
    nsv5507570copy number variation1nstd206human GRCh38 chr12: 47,704,092-47,704,186 , GRCh37.p13 chr12: 48,097,875-48,097,969 RPAP3, RPAP3-DT
    nsv5355890translocation1nstd200human GRCh38 chr12: 47,708,087-47,708,087 , GRCh38 chr12: 47,707,600-47,707,600 , GRCh37.p13 chr12: 48,101,870-48,101,870 , GRCh37.p13 chr12: 48,101,383-48,101,383 RPAP3-DT, ENDOU
    nsv5133537mobile element insertion1nstd203human GRCh38 chr12: 47,719,734-47,719,754 , GRCh37.p13 chr12: 48,113,517-48,113,537 RPAP3-DT, ENDOU
    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
    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
    nsv4604372copy number variation1nstd183human GRCh37 chr12: 48,134,133-48,134,380 , GRCh38.p12 chr12: 47,740,350-47,740,597 RAPGEF3, RPAP3-DT
    nsv4503724mobile element insertion1nstd166human GRCh37.p13 chr12: 48,120,113-48,120,113 , GRCh38.p12 chr12: 47,726,330-47,726,330 RPAP3-DT
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3963982insertion1nstd168human GRCh38 chr12: 47,737,858-47,747,631 , GRCh37.p13 chr12: 48,131,641-48,141,414 RAPGEF3, RPAP3-DT
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3916928copy number variation1nstd102humanPathogenic NCBI36 chr12: 42,194,761-46,386,352 , GRCh37.p13 chr12: 43,908,494-48,100,085 , GRCh38.p12 chr12: 43,514,691-47,706,302 RPAP3-DT, TMEM117, 51 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
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 ZNF75BP, YAF2, 195 more genes
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