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Items: 1 to 20 of 103

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6937948copy number variation1nstd229human GRCh38 chr12: 119,509,138-119,753,809 , GRCh37.p13 chr12: 119,946,943-120,191,613 PRKAB1, MIR1178, 5 more genes
    nsv6935933copy number variation1nstd229human GRCh38 chr12: 119,682,121-119,684,246 , GRCh37.p13 chr12: 120,119,926-120,122,051 CIT, PRKAB1
    nsv6583876inversion1nstd223human GRCh38 chr12: 118,054,469-123,705,974 , GRCh37.p13 chr12: 118,492,274-124,190,521 RPL11P5, RPL17P37, 159 more genes
    nsv6290239copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 117,461,902-133,841,395 , GRCh38.p12 chr12: 117,024,097-133,264,809 ACADS, BCL7A, 356 more genes
    nsv6132411copy number variation1nstd213human GRCh37 chr12: 119,880,000-120,880,001 , GRCh38.p12 chr12: 119,442,195-120,442,198 MSI1, RPLP0, 25 more genes
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5127116mobile element insertion1nstd203human GRCh38 chr12: 119,666,193-119,666,210 , GRCh37.p13 chr12: 120,103,998-120,104,015 LOC105370027, PRKAB1
    nsv4995940copy number variation1nstd200human GRCh38 chr12: 119,672,552-119,676,238 , GRCh37.p13 chr12: 120,110,357-120,114,043 PRKAB1
    nsv4993746copy number variation1nstd200human GRCh38 chr12: 119,432,054-119,695,573 , GRCh37.p13 chr12: 119,869,859-120,133,378 PRKAB1, CIT, 4 more genes
    nsv4831803copy number variation1nstd200human GRCh37 chr12: 119,869,859-120,133,378 , GRCh38.p12 chr12: 119,432,054-119,695,573 PRKAB1, CIT, 4 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
    nsv4221205copy number variation1nstd166human GRCh37.p13 chr12: 120,003,103-120,104,493 , GRCh38.p12 chr12: 119,565,298-119,666,688 RN7SKP197, TMEM233, 2 more genes
    nsv4220738copy number variation1nstd166human GRCh37.p13 chr12: 120,110,357-120,114,043 , GRCh38.p12 chr12: 119,672,552-119,676,238 PRKAB1
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 LOC105370080, LINC02985, 376 more genes
    nsv3922077copy number variation1nstd102humanUncertain significance NCBI36 chr12: 118,209,081-121,689,052 , GRCh38 chr12: 119,286,893-122,638,552 , GRCh37 chr12: 119,724,698-123,123,099 RPS20P31, LOC105378258, 94 more genes
    nsv3920557copy number variation1nstd102humanPathogenic GRCh37 chr12: 118,603,264-133,758,908 , GRCh38 chr12: 118,165,459-133,182,322 , NCBI36 chr12: 117,087,647-132,268,981 TMED2, GCN1, 339 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
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