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Items: 1 to 20 of 870

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7097291copy number variation1nstd102humanPathogenic GRCh37 chr5: 78,251,108-78,251,335 , GRCh38.p12 chr5: 78,955,285-78,955,512 ARSB
    nsv7097160copy number variation1nstd102humanUncertain significance GRCh37 chr5: 78,135,159-78,281,071 , GRCh38.p12 chr5: 78,839,336-78,985,248 ARSB
    nsv7096789copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 78,135,159-78,135,269 , GRCh38.p12 chr5: 78,839,336-78,839,446 ARSB
    nsv7096788copy number variation1nstd102humanPathogenic GRCh37 chr5: 76,115,008-78,281,071 , GRCh38.p12 chr5: 76,819,183-78,985,248 LHFPL2, OTP, 27 more genes
    nsv7045990inversion1nstd229human GRCh38 chr5: 78,952,825-79,153,510 , GRCh37.p13 chr5: 78,248,648-78,449,333 DMGDH, LOC100505796, 3 more genes
    nsv7045119inversion1nstd229human GRCh38 chr5: 76,735,197-79,503,040 , GRCh37.p13 chr5: 76,031,022-78,798,863 RNU6ATAC36P, RPS3AP20, 39 more genes
    nsv7041510inversion1nstd229human GRCh38 chr5: 73,610,616-81,398,473 , GRCh37.p13 chr5: 72,906,441-80,694,292 LOC105379034, RBMX2P5, 134 more genes
    nsv7039910inversion1nstd229human GRCh38 chr5: 78,582,950-78,866,961 , GRCh37.p13 chr5: 77,878,773-78,162,784 LHFPL2, HMGB1P21, 1 more genes
    nsv7038776inversion1nstd229human GRCh38 chr5: 76,735,364-79,502,930 , GRCh37.p13 chr5: 76,031,189-78,798,753 HOMER1, LOC100505796, 39 more genes
    nsv6777467copy number variation1nstd229human GRCh38 chr5: 78,828,243-78,828,271 , GRCh37.p13 chr5: 78,124,066-78,124,094 ARSB
    nsv6777306copy number variation1nstd229human GRCh38 chr5: 78,956,155-78,968,807 , GRCh37.p13 chr5: 78,251,978-78,264,630 ARSB
    nsv6776243copy number variation1nstd229human GRCh38 chr5: 78,980,940-78,981,249 , GRCh37.p13 chr5: 78,276,763-78,277,072 ARSB
    nsv6775673copy number variation1nstd229human GRCh38 chr5: 78,975,253-78,976,194 , GRCh37.p13 chr5: 78,271,076-78,272,017 ARSB
    nsv6773794copy number variation1nstd229human GRCh38 chr5: 78,824,772-78,824,956 , GRCh37.p13 chr5: 78,120,595-78,120,779 ARSB
    nsv6773734copy number variation1nstd229human GRCh38 chr5: 78,957,029-78,957,099 , GRCh37.p13 chr5: 78,252,852-78,252,922 ARSB
    nsv6773008copy number variation1nstd229human GRCh38 chr5: 78,813,976-78,816,047 , GRCh37.p13 chr5: 78,109,799-78,111,870 ARSB
    nsv6772810copy number variation1nstd229human GRCh38 chr5: 78,757,601-78,781,200 , GRCh37.p13 chr5: 78,053,424-78,077,023 ARSB, LHFPL2
    nsv6770720copy number variation1nstd229human GRCh38 chr5: 78,888,147-78,889,519 , GRCh37.p13 chr5: 78,183,970-78,185,342 ARSB
    nsv6770699copy number variation1nstd229human GRCh38 chr5: 78,906,079-78,933,169 , GRCh37.p13 chr5: 78,201,902-78,228,992 ARSB
    nsv6770352copy number variation1nstd229human GRCh38 chr5: 78,797,210-78,809,645 , GRCh37.p13 chr5: 78,093,033-78,105,468 ARSB
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