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Items: 1 to 20 of 881

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3962960copy number variation1nstd168human GRCh38 (hg38) chr12: 83,017,632-83,030,821 , GRCh37.p13 chr12: 83,411,411-83,424,600 TMTC2, RNU6-977P
    nsv3962886insertion1nstd168human GRCh38 (hg38) chr12: 83,006,340-83,037,549 , GRCh37.p13 chr12: 83,400,119-83,431,328 TMTC2, RNU6-977P
    nsv3941862copy number variation1nstd167human GRCh37 (hg19) chr12: 83,331,534-83,331,580 , GRCh38.p12 chr12: 82,937,755-82,937,801 TMTC2
    nsv3941533copy number variation1nstd167human GRCh37 (hg19) chr12: 83,293,986-83,294,021 , GRCh38.p12 chr12: 82,900,207-82,900,242 TMTC2
    nsv3927687insertion2nstd167human GRCh37 (hg19) chr12: 83,391,131-83,391,131 , GRCh38.p12 chr12: 82,997,352-82,997,352 TMTC2
    nsv3924649copy number variation1nstd102humanLikely benign GRCh38 (hg38) chr12: 82,970,882-82,994,642 , GRCh37.p13 chr12: 83,364,661-83,388,421 , NCBI36 (hg18) chr12: 81,888,792-81,912,552 TMTC2
    nsv3922777copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr12: 73,485,697-92,795,805 , GRCh37.p13 chr12: 73,879,477-93,189,581 , NCBI36 (hg18) chr12: 72,165,744-91,713,712 TMTC2, ATP2B1, 201 more genes
    nsv3922563copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr12: 80,266,605-85,253,555 , GRCh37.p13 chr12: 80,660,385-85,647,333 , NCBI36 (hg18) chr12: 79,184,516-84,171,464 TMTC2, LIN7A, 37 more genes
    nsv3921372copy number variation1nstd102humanBenign GRCh38 (hg38) chr12: 82,697,865-82,746,258 , GRCh37.p13 chr12: 83,091,644-83,140,037 , NCBI36 (hg18) chr12: 81,615,775-81,664,168 TMTC2
    nsv3915060copy number variation1nstd102humanBenign GRCh38 (hg38) chr12: 82,771,954-83,812,649 , GRCh37.p13 chr12: 83,165,733-84,206,428 , NCBI36 (hg18) chr12: 81,689,864-82,730,559 TMTC2, RPL6P25, 2 more genes
    nsv3914424copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr12: 77,564,757-85,370,822 , GRCh37.p13 chr12: 77,958,537-85,764,600 , NCBI36 (hg18) chr12: 76,482,668-84,288,731 TMTC2, ALX1, 60 more genes
    nsv3914194copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr12: 121,271-133,196,807 , GRCh37.p13 chr12: 282,465-133,773,393 , NCBI36 (hg18) chr12: 100,698-132,283,466 TMTC2, ACVRL1, 2517 more genes
    nsv3913622copy number variation1nstd102humanUncertain significance NCBI36 (hg18) chr12: 81,748,432-82,289,719 , GRCh37.p13 chr12: 83,224,301-83,765,588 , GRCh38.p12 chr12: 82,830,522-83,371,809 TMTC2, RPL6P25, 1 more genes
    nsv3908816copy number variation1nstd102humanLikely benign GRCh37 (hg19) chr12: 83,463,371-84,884,498 , GRCh38.p12 chr12: 83,069,592-84,490,719 , NCBI36 (hg18) chr12: 81,987,502-83,408,629 TMTC2, LOC100128335, 4 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 (hg19) chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , NCBI36 (hg18) chr12: 44,048-132,287,975 TMTC2, A2MP1, 2518 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , NCBI36 (hg18) chr12: 491,481-132,289,191 TMTC2, ABCD2, 2507 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , NCBI36 (hg18) chr12: 16,001-132,289,534 TMTC2, A2M, 2523 more genes
    nsv3903356copy number variation1nstd102humanBenign GRCh37 (hg19) chr12: 83,524,291-83,539,371 , GRCh38.p12 chr12: 83,130,512-83,145,592 , NCBI36 (hg18) chr12: 82,048,422-82,063,502 TMTC2
    nsv3901977copy number variation1nstd102humanBenign GRCh37 (hg19) chr12: 83,166,956-83,206,342 , GRCh38.p12 chr12: 82,773,177-82,812,563 , NCBI36 (hg18) chr12: 81,691,087-81,730,473 TMTC2
    nsv3898003copy number variation1nstd102humanUncertain significance GRCh37 (hg19) chr12: 83,266,252-86,018,250 , GRCh38.p12 chr12: 82,872,473-85,624,472 , NCBI36 (hg18) chr12: 81,790,383-84,542,381 TMTC2, SLC6A15, 13 more genes
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