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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7097853copy number variation1nstd102humanPathogenic GRCh37 chr7: 104,456,677-108,155,935 , GRCh38.p12 chr7: 104,816,230-108,515,491 RNU6-1322P, COG5, 57 more genes
    nsv7097099copy number variation1nstd102humanUncertain significance GRCh37 chr7: 102,937,907-107,643,330 , GRCh38.p12 chr7: 103,297,460-108,002,885 SRPK2, SYPL1, 60 more genes
    nsv7057084inversion1nstd229human GRCh38 chr7: 104,984,738-104,984,826 , GRCh37.p13 chr7: 104,625,185-104,625,273 LINC01004, KMT2E
    nsv6636539copy number variation1nstd102humanPathogenic GRCh37 chr7: 104,497,480-105,121,286 , GRCh38.p12 chr7: 104,857,033-105,480,839 SRPK2, KMT2E, 9 more genes
    nsv6636284copy number variation1nstd102humanUncertain significance GRCh37 chr7: 104,443,914-104,659,841 , GRCh38.p12 chr7: 104,803,467-105,019,394 LHFPL3, KMT2E, 5 more genes
    nsv6634332copy number variation1nstd102humanUncertain significance GRCh37 chr7: 113,371-159,042,325 , GRCh38.p12 chr7: 113,371-159,249,635 RRBP1P1, SLC29A4P1, 2680 more genes
    nsv6315223complex substitution1nstd102humanPathogenic GRCh37 chr7: 43,360-159,119,707 , GRCh38.p12 chr7: 43,360-159,327,017 AOC1, ACHE, 2682 more genes
    nsv6313576copy number variation1nstd102humanPathogenic GRCh37 chr7: 100,676,872-119,156,160 , GRCh38.p12 chr7: 101,033,591-119,516,106 LHFPL3-AS2, CTB-30L5.1, 233 more genes
    nsv6313503copy number variation1nstd102humanPathogenic GRCh37 chr7: 99,417,471-111,586,308 , GRCh38.p12 chr7: 99,819,848-111,946,253 GJC3, LAMB4, 237 more genes
    nsv6136533copy number variation1nstd213human GRCh37 chr7: 104,130,000-120,060,001 , GRCh38.p12 chr7: 104,489,552-120,419,947 CAPZA2, CFTR, 162 more genes
    nsv5556846sequence alteration1nstd206human GRCh38 chr7: 2,511,247-157,318,976 , GRCh37.p13 chr7: 2,550,881-157,111,670 , AHR, 2675 more genes
    nsv5485851copy number variation1nstd206human GRCh38 chr7: 104,990,213-104,990,284 , GRCh37.p13 chr7: 104,630,660-104,630,731 LINC01004, KMT2E
    nsv5326600inversion1nstd204human GRCh37.p13 chr7: 97,320,865-141,491,704 , GRCh38.p13 chr7: 97,691,553-141,791,904 , ARF5, 752 more genes
    nsv5039775inversion1nstd200human GRCh38 chr7: 22,938,090-134,148,361 , GRCh37.p13 chr7: 22,977,709-133,833,114 , NFE4, 1832 more genes
    nsv5029742inversion1nstd200human GRCh38 chr7: 79,688,546-147,673,588 , GRCh37.p13 chr7: 79,317,862-147,370,680 , LOC100533722, 1168 more genes
    nsv4950615copy number variation1nstd200human GRCh38 chr7: 104,990,213-104,990,284 , GRCh37.p13 chr7: 104,630,660-104,630,731 KMT2E, LINC01004
    nsv4880762inversion1nstd200human GRCh37 chr7: 79,317,862-147,370,680 , GRCh38.p12 chr7: 79,688,546-147,673,588 , RN7SKP277, 1168 more genes
    nsv4711031copy number variation1nstd195human GRCh37 chr7: 104,517,501-104,899,251 , GRCh38.p12 chr7: 104,877,054-105,258,804 RN7SL8P, SRPK2, 6 more genes
    nsv4578664copy number variation1nstd102humanPathogenic GRCh37 chr7: 104,506,008-107,408,857 , GRCh38.p12 chr7: 104,865,561-107,768,412 LHFPL3-AS2, CBLL1, 43 more genes
    nsv4578663copy number variation1nstd102humanLikely pathogenic GRCh37 chr7: 103,354,482-105,407,628 , GRCh38.p12 chr7: 103,714,035-105,767,182 ORC5, RELN, 18 more genes
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