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Items: 1 to 20 of 96

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074786inversion1nstd229human GRCh38 chr12: 47,059,202-48,408,098 , GRCh37.p13 chr12: 47,452,985-48,801,881 LOC102725258, RPAP3, 42 more genes
    nsv6933466copy number variation1nstd229human GRCh38 chr12: 47,962,506-47,972,363 , GRCh37.p13 chr12: 48,356,289-48,366,146 COL2A1, TMEM106C
    nsv6927667copy number variation1nstd229human GRCh38 chr12: 47,955,501-47,965,500 , GRCh37.p13 chr12: 48,349,284-48,359,283 TMEM106C
    nsv6918615copy number variation1nstd229human GRCh38 chr12: 47,957,960-48,181,643 , GRCh37.p13 chr12: 48,351,743-48,575,426 PHB1P18, SENP1, 12 more genes
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 ZNF641, MIR4698, 77 more genes
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5380901copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,240,430-48,539,491 , GRCh38.p12 chr12: 47,846,647-48,145,708 LOC105369750, SENP1, 9 more genes
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4972507copy number variation1nstd200human GRCh38 chr12: 47,962,506-47,972,359 , GRCh37.p13 chr12: 48,356,289-48,366,142 TMEM106C, COL2A1
    nsv4840643copy number variation1nstd200human GRCh37 chr12: 48,356,289-48,366,142 , GRCh38.p12 chr12: 47,962,506-47,972,359 COL2A1, TMEM106C
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 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
    nsv4599445copy number variation1nstd183human GRCh37 chr12: 48,357,399-48,357,565 , GRCh38.p12 chr12: 47,963,616-47,963,782 TMEM106C
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3963445insertion1nstd168human GRCh38 chr12: 47,969,264-47,988,766 , GRCh37.p13 chr12: 48,363,047-48,382,549 COL2A1, TMEM106C, 1 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 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
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
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