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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5684536mobile element insertion1nstd211human GRCh38 chr1: 237,944,764-237,944,764 , GRCh37.p13 chr1: 238,108,064-238,108,064 MTRNR2L11
    nsv5438107copy number variation1nstd206human GRCh38 chr1: 237,840,732-238,565,197 , GRCh37.p13 chr1: 238,004,032-238,728,497 LOC105373220, MTND5P18, 14 more genes
    nsv5410132mobile element insertion1nstd206human GRCh38 chr1: 237,944,764-237,944,815 , GRCh37.p13 chr1: 238,108,064-238,108,115 MTRNR2L11
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4453906copy number variation1nstd102humanPathogenic GRCh37 chr1: 235,582,580-249,224,684 , GRCh38.p12 chr1: 235,419,265-248,930,485 YWHAQP9, LOC107985747, 268 more genes
    nsv4451077copy number variation1nstd102humanPathogenic GRCh37 chr1: 237,244,834-242,310,908 , GRCh38.p12 chr1: 237,081,534-242,147,606 LOC100128958, PSMD2P1, 60 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4377856copy number variation1nstd173human GRCh37 chr1: 237,796,276-238,536,388 , GRCh38.p12 chr1: 237,632,976-238,373,088 ZP4, MTND2P27, 13 more genes
    nsv4346874copy number variation1nstd102humanPathogenic GRCh37 chr1: 234,742,890-239,475,761 , GRCh38.p12 chr1: 234,607,144-239,312,461 LINC01348, LINC00184, 82 more genes
    nsv4346528copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 234,546,246-238,716,872 , GRCh38.p12 chr1: 234,410,500-238,553,572 ACTN2, LYST, 81 more genes
    nsv4060209copy number variation1nstd166human GRCh37.p13 chr1: 237,764,177-238,855,025 , GRCh38.p12 chr1: 237,600,877-238,691,725 KRT18P32, RYR2, 15 more genes
    nsv3921757copy number variation1nstd102humannot provided NCBI36 chr1: 214,401,568-247,249,719 , GRCh37.p13 chr1: 216,334,945-249,233,096 , GRCh38.p12 chr1: 216,161,603-248,938,897 MTCYBP15, RNU4-77P, 658 more genes
    nsv3914847copy number variation1nstd102humanPathogenic NCBI36 chr1: 223,116,610-247,199,719 , GRCh37.p13 chr1: 225,049,987-249,233,096 , GRCh38.p12 chr1: 224,862,285-248,938,897 RNU6-1089P, TRE-CTC2-1, 518 more genes
    nsv3912845copy number variation1nstd102humanPathogenic NCBI36 chr1: 230,713,047-240,722,962 , GRCh37.p13 chr1: 232,646,424-242,656,339 , GRCh38.p12 chr1: 232,510,678-242,493,037 RNU4-77P, MTCYBP15, 158 more genes
    nsv3906964copy number variation1nstd102humanPathogenic GRCh37 chr1: 224,075,482-249,185,508 , NCBI36 chr1: 222,142,105-247,152,131 , GRCh38 chr1: 223,887,780-248,891,309 KIF26B, RPSAP21, 542 more genes
    nsv3904200copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,106,271-243,677,283 , NCBI36 chr1: 228,308,641-241,907,208 , GRCh37 chr1: 230,242,018-243,840,585 MIR3123, LOC100506929, 221 more genes
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