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Items: 1 to 20 of 199

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5650442insertion1nstd207human GRCh38 chr12: 54,102,657-54,102,657 , GRCh37.p13 chr12: 54,496,441-54,496,441 LOC100240734, FLJ12825
    nsv5590621copy number variation1nstd207human GRCh38 chr12: 54,084,298-54,085,631 , GRCh37.p13 chr12: 54,478,082-54,479,415 FLJ12825
    nsv5498527copy number variation1nstd206human GRCh38 chr12: 54,095,470-54,098,655 , GRCh37.p13 chr12: 54,489,254-54,492,439 FLJ12825
    nsv5378395translocation1nstd200human GRCh38 chr12: 54,076,867-54,076,867 , GRCh38 chr6: 35,383,140-35,383,140 , GRCh37.p13 chr12: 54,470,651-54,470,651 , GRCh37.p13 chr6: 35,350,917-35,350,917 PPARD, FLJ12825, 1 more genes
    nsv5343384translocation1nstd200human GRCh37 chr6: 35,350,917-35,350,917 , GRCh37 chr12: 54,470,651-54,470,651 , GRCh38.p12 chr12: 54,076,867-54,076,867 , GRCh38.p12 chr6: 35,383,140-35,383,140 PPARD, FLJ12825, 1 more genes
    nsv5326422translocation1nstd204human GRCh38.p13 chr12: 54,076,867-54,076,867 , GRCh37.p13 chr12: 54,470,651-54,470,651 , GRCh38.p13 chr6: 35,383,140-35,383,140 , GRCh37.p13 chr6: 35,350,917-35,350,917 PPARD, FLJ12825, 1 more genes
    nsv5188668mobile element insertion1nstd203human GRCh38 chr12: 54,064,909-54,064,914 , GRCh37.p13 chr12: 54,458,693-54,458,698 FLJ12825
    nsv5127940mobile element insertion1nstd203human GRCh38 chr12: 54,070,628-54,070,644 , GRCh37.p13 chr12: 54,464,412-54,464,428 FLJ12825
    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
    nsv4972783copy number variation1nstd200human GRCh38 chr12: 54,064,317-54,064,413 , GRCh37.p13 chr12: 54,458,101-54,458,197 FLJ12825
    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
    nsv4616692copy number variation1nstd183human GRCh37 chr12: 54,472,450-54,472,529 , GRCh38.p12 chr12: 54,078,666-54,078,745 LOC100240735, FLJ12825
    nsv4611794copy number variation1nstd183human GRCh37 chr12: 54,472,443-54,472,529 , GRCh38.p12 chr12: 54,078,659-54,078,745 LOC100240735, FLJ12825
    nsv4611475copy number variation1nstd183human GRCh37 chr12: 54,472,443-54,491,367 , GRCh38.p12 chr12: 54,078,659-54,097,583 FLJ12825, LOC100240735
    nsv4611340copy number variation1nstd183human GRCh37 chr12: 54,469,102-54,519,985 , GRCh38.p12 chr12: 54,075,318-54,126,201 SMUG1, LINC02381, 3 more genes
    nsv4607962copy number variation1nstd183human GRCh37 chr12: 54,477,845-54,479,928 , GRCh38.p12 chr12: 54,084,061-54,086,144 FLJ12825
    nsv4599246copy number variation1nstd183human GRCh37 chr12: 54,472,450-54,491,367 , GRCh38.p12 chr12: 54,078,666-54,097,583 LOC100240735, FLJ12825
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    • Wernicke Encephalopathy
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      An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include ...<br/>Year introduced: 2000(1964)
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