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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5294790copy number variation1nstd204human GRCh38.p13 chr1: 54,013,583-54,019,475 , GRCh37.p13 chr1: 54,479,256-54,485,148 LDLRAD1
    nsv5210349copy number variation1nstd204human GRCh38.p13 chr1: 54,012,339-54,019,056 , GRCh37.p13 chr1: 54,478,012-54,484,729 LDLRAD1
    nsv5079489mobile element insertion1nstd203human GRCh38 chr1: 54,017,357-54,017,373 , GRCh37.p13 chr1: 54,483,030-54,483,046 LDLRAD1
    nsv4903512copy number variation1nstd200human GRCh38 chr1: 54,013,588-54,019,466 , GRCh37.p13 chr1: 54,479,261-54,485,139 LDLRAD1
    nsv4903511copy number variation1nstd200human GRCh38 chr1: 53,988,281-54,067,983 , GRCh37.p13 chr1: 54,453,954-54,533,656 TMEM59, TCEANC2, 2 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4780863copy number variation1nstd200human GRCh37 chr1: 54,479,261-54,485,139 , GRCh38.p12 chr1: 54,013,588-54,019,466 LDLRAD1
    nsv4773456mobile element deletion1nstd200human GRCh37 chr1: 54,471,088-54,471,255 , GRCh38.p12 chr1: 54,005,415-54,005,582 LDLRAD1
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 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
    nsv4581873copy number variation1nstd183human GRCh37 chr1: 54,004,078-54,571,989 , GRCh38.p12 chr1: 53,538,405-54,106,316 NDC1, COX7BP3, 12 more genes
    nsv4453879copy number variation1nstd102humanUncertain significance GRCh37 chr1: 54,002,963-54,575,440 , GRCh38.p12 chr1: 53,537,290-54,109,767 MIR4781, DIO1, 12 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
    nsv4373302copy number variation1nstd173human GRCh37 chr1: 54,482,751-54,503,522 , GRCh38.p12 chr1: 54,017,078-54,037,849 TMEM59, LDLRAD1
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3907097copy number variation1nstd102humanUncertain significance GRCh37 chr1: 54,289,408-54,793,786 , GRCh38 chr1: 53,823,735-54,328,113 , NCBI36 chr1: 54,061,996-54,566,374 RPL37P7, COX7BP3, 15 more genes
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 more genes
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