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Items: 1 to 20 of 172

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5889709copy number variation1nstd209human GRCh38 chr6: 43,535,921-43,536,212 , GRCh37.p13 chr6: 43,503,658-43,503,949 XPO5, POLR1C
    nsv5888286copy number variation1nstd209human GRCh38 chr6: 43,544,920-43,545,160 , GRCh37.p13 chr6: 43,512,657-43,512,897 XPO5, POLR1C
    nsv5673766copy number variation1nstd102humanPathogenic GRCh37 chr6: 42,928,506-43,737,486 , GRCh38.p12 chr6: 42,960,768-43,769,749 SRF, POLR1C, 39 more genes
    nsv5558551sequence alteration1nstd206human GRCh38 chr6: 40,895,286-71,029,944 , GRCh37.p13 chr6: 40,863,025-71,739,647 , ACTG1P9, 405 more genes
    nsv5463400copy number variation1nstd206human GRCh38 chr6: 43,534,706-43,535,338 , GRCh37.p13 chr6: 43,502,443-43,503,075 XPO5, POLR1C
    nsv5210925mobile element deletion1nstd204human GRCh37.p13 chr6: 43,503,321-43,503,574 , GRCh38.p13 chr6: 43,535,584-43,535,837 XPO5, POLR1C
    nsv4941152copy number variation1nstd200human GRCh38 chr6: 43,574,145-43,575,009 , GRCh37.p13 chr6: 43,541,882-43,542,746 POLH, XPO5
    nsv4778612mobile element deletion1nstd200human GRCh37 chr6: 43,503,330-43,503,566 , GRCh38.p12 chr6: 43,535,593-43,535,829 POLR1C, XPO5
    nsv4757608inversion1nstd199human GRCh37 chr6: 26,743,921-58,149,359 , GRCh38.p12 chr6: 26,823,536-61,119,912 , ABCF1, 1075 more genes
    nsv4756329inversion1nstd199human GRCh37 chr6: 26,745,246-58,149,317 , GRCh38.p12 chr6: 26,823,536-61,119,912 , ABCF1, 1075 more genes
    nsv4735754copy number variation1nstd199human GRCh37 chr6: 26,776,020-58,144,810 , GRCh38.p12 chr6: 26,823,536-61,119,912 , RNU6-250P, 1075 more genes
    nsv4522005copy number variation1nstd166human GRCh37.p13 chr6: 43,520,760-43,521,598 , GRCh38.p12 chr6: 43,553,023-43,553,861 XPO5, POLR1C
    nsv4350067copy number variation1nstd102humanPathogenic GRCh37 chr6: 29,455,465-81,447,367 , GRCh38.p12 chr6: 29,487,688-80,737,650 HLA-DPB2, CIMIP3, 1001 more genes
    nsv4145209copy number variation1nstd166human GRCh37.p13 chr6: 43,525,546-43,526,261 , GRCh38.p12 chr6: 43,557,809-43,558,524 POLR1C, XPO5
    nsv3924318copy number variation1nstd102humanPathogenic GRCh37 chr6: 42,336,296-44,558,281 , NCBI36 chr6: 42,444,274-44,666,259 , GRCh38 chr6: 42,368,558-44,590,544 MIR4642, SRF, 82 more genes
    nsv3922186copy number variation1nstd102humanUncertain significance NCBI36 chr6: 43,613,072-43,860,167 , GRCh38 chr6: 43,537,357-43,784,452 , GRCh37 chr6: 43,505,094-43,752,189 MRPS18A, GTPBP2, 8 more genes
    nsv3919521copy number variation1nstd102humanPathogenic NCBI36 chr6: 37,853,123-45,729,558 , GRCh37 chr6: 37,745,145-45,621,580 , GRCh38 chr6: 37,777,369-45,653,843 RPL23P6, LOC102723789, 184 more genes
    nsv3919402copy number variation1nstd102humanPathogenic NCBI36 chr6: 42,769,519-46,417,784 , GRCh37.p13 chr6: 42,661,541-46,309,825 , GRCh38.p12 chr6: 42,693,803-46,342,088 LOC101929770, MRPS18A, 94 more genes
    nsv3913920copy number variation1nstd102humanPathogenic GRCh38 chr6: 156,974-46,789,291 , NCBI36 chr6: 101,974-46,864,987 , GRCh37 chr6: 156,974-46,757,028 TRR-ACG1-2, TMEM217, 1385 more genes
    nsv3912856copy number variation1nstd102humanPathogenic NCBI36 chr6: 41,713,777-46,588,645 , GRCh38 chr6: 41,638,061-46,512,949 , GRCh37 chr6: 41,605,799-46,480,686 PTCRA, LOC101929770, 121 more genes
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    • dbVar for Gene (Select 57510) (206)
      dbVar
    • RecName: Full=Lysosomal acid glucosylceramidase; Short=Lysosomal acid GCase; Alt...
      RecName: Full=Lysosomal acid glucosylceramidase; Short=Lysosomal acid GCase; AltName: Full=Acid beta-glucosidase; AltName: Full=Alglucerase; AltName: Full=Beta-glucocerebrosidase; Short=Beta-GC; AltName: Full=Beta-glucosylceramidase 1; AltName: Full=Cholesterol glucosyltransferase; Short=SGTase; AltName: Full=Cholesteryl-beta-glucosidase; AltName: Full=D-glucosyl-N-acylsphingosine glucohydrolase; AltName: Full=Glucosylceramidase beta 1; AltName: Full=Imiglucerase; AltName: Full=Lysosomal cholesterol glycosyltransferase; AltName: Full=Lysosomal galactosylceramidase; AltName: Full=Lysosomal glycosylceramidase; Flags: Precursor
      gi|55584151|sp|P04062.3|GBA1_HUMAN
      Protein

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