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Items: 1 to 20 of 102

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7075183inversion1nstd229human GRCh38 chr12: 113,082,525-113,537,509 , GRCh37.p13 chr12: 113,520,330-113,975,314 SLC8B1, PLBD2, 14 more genes
    nsv7070180inversion1nstd229human GRCh38 chr12: 111,927,437-115,941,441 , GRCh37.p13 chr12: 112,365,241-116,379,246 OAS1, LHX5, 62 more genes
    nsv6935455copy number variation1nstd229human GRCh38 chr12: 113,035,201-113,489,200 , GRCh37.p13 chr12: 113,473,006-113,927,005 DTX1, MIR7106, 15 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
    nsv6927853copy number variation1nstd229human GRCh38 chr12: 113,011,684-113,717,532 , GRCh37.p13 chr12: 113,449,489-114,155,337 MIR7106, LOC105369991, 19 more genes
    nsv6922649copy number variation1nstd229human GRCh38 chr12: 113,460,401-113,548,100 , GRCh37.p13 chr12: 113,898,206-113,985,905 LHX5-AS1, LHX5
    nsv6313978copy number variation1nstd102humanPathogenic GRCh37 chr12: 113,445,811-114,933,860 , GRCh38.p12 chr12: 113,008,006-114,496,055 LOC105369993, LHX5-AS1, 32 more genes
    nsv6309391copy number variation1nstd102humanPathogenic GRCh37 chr12: 113,120,652-115,362,584 , GRCh38.p12 chr12: 112,682,847-114,924,779 LOC105369993, MIR6762, 41 more genes
    nsv6132408copy number variation1nstd213human GRCh37 chr12: 113,750,000-113,940,001 , GRCh38.p12 chr12: 113,312,195-113,502,196 SDS, LHX5, 5 more genes
    nsv6095406insertion1nstd212human GRCh38 chr12: 113,461,039-113,461,039 , GRCh37.p13 chr12: 113,898,844-113,898,844 LHX5
    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
    nsv4456436copy number variation1nstd102humanUncertain significance GRCh37 chr12: 113,695,889-113,904,780 , GRCh38.p12 chr12: 113,258,084-113,466,975 SDSL, TPCN1, 6 more genes
    nsv4380311copy number variation1nstd173human GRCh37 chr12: 113,628,648-113,905,101 , GRCh38.p12 chr12: 113,190,843-113,467,296 , IQCD, 9 more genes
    nsv4374351copy number variation1nstd173human GRCh37 chr12: 113,630,747-113,904,780 , GRCh38.p12 chr12: 113,192,942-113,466,975 , SLC8B1, 8 more genes
    nsv4365342copy number variation2nstd173human GRCh37 chr12: 113,628,648-113,923,854 , GRCh38.p12 chr12: 113,190,843-113,486,049 , SDS, 10 more genes
    nsv3914285copy number variation1nstd102humanPathogenic GRCh38 chr12: 113,077,775-114,372,366 , NCBI36 chr12: 111,999,963-113,294,554 , GRCh37 chr12: 113,515,580-114,810,171 RITA1, DTX1, 27 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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