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Items: 1 to 20 of 92

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7061495inversion1nstd229human GRCh38 chr12: 107,014,490-109,497,170 , GRCh37.p13 chr12: 107,408,268-109,934,975 RPL17P38, RNU6-361P, 46 more genes
    nsv6931732copy number variation1nstd229human GRCh38 chr12: 108,914,683-113,697,537 , GRCh37.p13 chr12: 109,308,459-114,135,342 PTPN11, RPL31P49, 111 more genes
    nsv6922947copy number variation1nstd229human GRCh38 chr12: 108,490,015-109,627,369 , GRCh37.p13 chr12: 108,883,792-110,065,174 RNU4-32P, LOC105369968, 30 more genes
    nsv6621489copy number variation1nstd224human GRCh37 chr12: 109,201,326-110,355,704 , GRCh38.p12 chr12: 108,807,550-109,917,899 FAM222A, MYO1H, 29 more genes
    nsv6584531inversion1nstd223human GRCh38 chr12: 109,050,238-109,051,289 , GRCh37.p13 chr12: 109,488,043-109,489,094 USP30-AS1, USP30
    nsv6487231copy number variation1nstd223human GRCh38 chr12: 109,046,875-109,051,371 , GRCh37.p13 chr12: 109,484,680-109,489,176 USP30, USP30-AS1
    nsv6314095copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,470,903-109,573,425 , GRCh38.p12 chr12: 109,033,098-109,135,620 ALKBH2, ACACB, 5 more genes
    nsv6291583copy number variation1nstd102humanPathogenic GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997 LOC105369964, LOC644746, 147 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132406copy number variation1nstd213human GRCh37 chr12: 108,420,000-110,500,001 , GRCh38.p12 chr12: 108,026,223-110,062,196 DAO, SART3, 47 more genes
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4769383copy number variation1nstd102humanUncertain significance GRCh37 chr12: 107,197,584-109,830,564 , GRCh38.p12 chr12: 106,803,806-109,392,759 TMEM263, MYO1H, 50 more genes
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 ATP2A2, CUX2, 115 more genes
    nsv4675412copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,199,902-110,267,493 , GRCh38.p12 chr12: 108,806,126-109,829,688 FAM222A-AS1, LINC01486, 24 more genes
    nsv4325802inversion1nstd166human GRCh37.p13 chr12: 70,180,810-110,320,028 , GRCh38.p12 chr12: 69,787,030-109,882,223 , APAF1, 540 more genes
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