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Items: 1 to 20 of 133

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5680053mobile element insertion1nstd211human GRCh38 chr1: 85,133,548-85,133,548 , GRCh37.p13 chr1: 85,599,231-85,599,231 MIR4423, DNAI3
    nsv5407520mobile element insertion1nstd206human GRCh38 chr1: 85,133,548-85,133,599 , GRCh37.p13 chr1: 85,599,231-85,599,282 MIR4423, DNAI3
    nsv5076423mobile element insertion1nstd203human GRCh38 chr1: 85,133,548-85,133,548 , GRCh37.p13 chr1: 85,599,231-85,599,231 DNAI3, MIR4423
    nsv5065437mobile element insertion1nstd203human GRCh38 chr1: 85,133,540-85,133,548 , GRCh37.p13 chr1: 85,599,223-85,599,231 MIR4423, DNAI3
    nsv5062666mobile element insertion1nstd203human GRCh38 chr1: 85,133,534-85,133,548 , GRCh37.p13 chr1: 85,599,217-85,599,231 MIR4423, DNAI3
    nsv4896735copy number variation1nstd200human GRCh38 chr1: 85,133,764-85,135,000 , GRCh37.p13 chr1: 85,599,447-85,600,683 MIR4423
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728566copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 80,804,502-89,490,384 , GRCh38.p12 chr1: 80,338,817-89,024,701 CLCA1, COX6A1P1, 103 more genes
    nsv4572948mobile element insertion1nstd166human GRCh37.p13 chr1: 85,598,716-85,598,716 , GRCh38.p12 chr1: 85,133,033-85,133,033 DNAI3, MIR4423
    nsv4462140mobile element insertion1nstd166human GRCh37.p13 chr1: 85,599,217-85,599,217 , GRCh38.p12 chr1: 85,133,534-85,133,534 DNAI3, MIR4423
    nsv4454000copy number variation1nstd102humanPathogenic GRCh37 chr1: 67,851,233-86,101,340 , GRCh38.p12 chr1: 67,385,550-85,635,657 NEXN, LOC107985391, 209 more genes
    nsv4450384copy number variation1nstd102humannot provided GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106 DEPDC1, ERICH3-AS1, 264 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4327345inversion1nstd166human GRCh37.p13 chr1: 85,314,405-86,811,671 , GRCh38.p12 chr1: 84,848,722-86,345,988 , MCOLN3, 22 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3910639copy number variation1nstd102humanUncertain significance NCBI36 chr1: 85,115,279-85,922,965 , GRCh37.p13 chr1: 85,342,691-86,150,377 , GRCh38.p12 chr1: 84,877,008-85,684,694 DNAI3, C1orf52, 13 more genes
    nsv3905989copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,884,987-89,094,147 , NCBI36 chr1: 76,657,575-88,866,735 , GRCh38 chr1: 76,419,302-88,628,464 DNAJB4, SH3GLB1, 146 more genes
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