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Items: 1 to 20 of 106

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7068936inversion1nstd229human GRCh38 chr12: 75,617,673-76,899,935 , GRCh37.p13 chr12: 76,011,453-77,293,715 CSRP2, OSBPL8, 23 more genes
    nsv7068424inversion1nstd229human GRCh38 chr12: 75,621,086-76,899,941 , GRCh37.p13 chr12: 76,014,866-77,293,721 LOC100289143, LOC105369844, 23 more genes
    nsv6925143copy number variation1nstd229human GRCh38 chr12: 76,332,333-76,349,907 , GRCh37.p13 chr12: 76,726,113-76,743,687 OSBPL8, BBS10
    nsv6587098inversion1nstd223human GRCh38 chr12: 70,939,082-79,478,721 , GRCh37.p13 chr12: 71,332,862-79,872,501 , H3P35, 83 more genes
    nsv6466742copy number variation1nstd223human GRCh38 chr12: 76,347,901-76,348,900 , GRCh37.p13 chr12: 76,741,681-76,742,680 BBS10
    nsv6309516copy number variation1nstd102humanUncertain significance GRCh37 chr12: 76,739,593-76,742,138 , GRCh38.p12 chr12: 76,345,813-76,348,358 BBS10
    nsv6291127copy number variation1nstd102humanPathogenic GRCh37 chr12: 70,084,476-77,065,764 , GRCh38.p12 chr12: 69,690,696-76,671,984 LOC100130268, RNU6-1012P, 78 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
    nsv6132437copy number variation1nstd213human GRCh37 chr12: 75,550,000-78,060,001 , GRCh38.p12 chr12: 75,156,220-77,666,221 , CSRP2, 40 more genes
    nsv5500934copy number variation1nstd206human GRCh38 chr12: 76,069,603-82,449,398 , GRCh37.p13 chr12: 76,463,383-82,843,177 , E2F7, 65 more genes
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv5032581inversion1nstd200human GRCh38 chr12: 67,763,754-90,678,993 , GRCh37.p13 chr12: 68,157,534-91,072,770 , LOC105369886, 255 more genes
    nsv4888823inversion1nstd200human GRCh37 chr12: 68,157,543-91,072,771 , GRCh38.p12 chr12: 67,763,763-90,678,994 , BEST3, 255 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    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
    nsv4729517copy number variation1nstd102humanLikely benign GRCh37 chr12: 76,557,730-76,885,572 , GRCh38.p12 chr12: 76,163,950-76,491,792 BBS10, LNCOG, 2 more genes
    nsv4683922copy number variation1nstd102humanPathogenic GRCh37 chr12: 76,739,583-76,742,148 , GRCh38.p12 chr12: 76,345,803-76,348,368 BBS10
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