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Items: 1 to 20 of 107

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5500934copy number variation1nstd206human GRCh38 chr12: 76,069,603-82,449,398 , GRCh37.p13 chr12: 76,463,383-82,843,177 , E2F7, 65 more genes
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv5032581inversion1nstd200human GRCh38 chr12: 67,763,754-90,678,993 , GRCh37.p13 chr12: 68,157,534-91,072,770 , LOC105369886, 255 more genes
    nsv4888823inversion1nstd200human GRCh37 chr12: 68,157,543-91,072,771 , GRCh38.p12 chr12: 67,763,763-90,678,994 , BEST3, 255 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4843896copy number variation1nstd200human GRCh37 chr12: 78,481,498-78,599,426 , GRCh38.p12 chr12: 78,087,718-78,205,646 NAV3, PRXL2AP1
    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
    nsv4674826copy number variation1nstd102humanUncertain significance GRCh37 chr12: 78,338,797-79,193,396 , GRCh38.p12 chr12: 77,945,017-78,799,616 MRPL11P3, LINC02424, 4 more genes
    nsv4457276copy number variation1nstd102humanUncertain significance GRCh37 chr12: 78,338,385-79,198,108 , GRCh38.p12 chr12: 77,944,605-78,804,328 LOC642550, MRPL11P3, 4 more genes
    nsv4456763copy number variation1nstd102humanPathogenic GRCh37 chr12: 77,737,623-94,330,526 , GRCh38.p12 chr12: 77,343,843-93,936,750 MIR1252, PLEKHG7, 162 more genes
    nsv4345788sequence alteration1nstd166human GRCh37.p13 chr12: 59,785,153-101,478,055 , GRCh38.p12 chr12: 59,391,372-101,084,277 , APAF1, 538 more genes
    nsv4325802inversion1nstd166human GRCh37.p13 chr12: 70,180,810-110,320,028 , GRCh38.p12 chr12: 69,787,030-109,882,223 , APAF1, 540 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
    nsv3924329copy number variation1nstd102humanPathogenic GRCh37 chr12: 70,731,264-82,154,924 , GRCh38 chr12: 70,337,484-81,761,145 , NCBI36 chr12: 69,017,531-80,679,055 NAV3, LOC100420794, 118 more genes
    nsv3924183copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 75,484,784-80,938,999 , GRCh37 chr12: 76,960,653-82,414,868 , GRCh38 chr12: 76,566,873-82,021,089 CSRP2, MYF5, 52 more genes
    nsv3922777copy number variation1nstd102humanPathogenic GRCh37 chr12: 73,879,477-93,189,581 , NCBI36 chr12: 72,165,744-91,713,712 , GRCh38 chr12: 73,485,697-92,795,805 RN7SL734P, POC1B-AS1, 195 more genes
    nsv3918758copy number variation1nstd102humanPathogenic GRCh38 chr12: 75,683,698-80,195,649 , NCBI36 chr12: 74,363,745-79,113,560 , GRCh37 chr12: 76,077,478-80,589,429 YWHAQP7, MIR1252, 48 more genes
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