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Items: 1 to 20 of 202

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147268copy number variation1nstd232human GRCh37.p13 chr2: 96,944,448-96,944,544 , GRCh38.p12 chr2: 96,278,710-96,278,806 SNRNP200
    nsv7146186insertion1nstd232human GRCh37.p13 chr2: 96,969,068-96,969,068 , GRCh38.p12 chr2: 96,303,330-96,303,330 SNRNP200
    nsv7144907copy number variation1nstd232human GRCh37.p13 chr2: 96,963,273-96,963,372 , GRCh38.p12 chr2: 96,297,535-96,297,634 SNRNP200
    nsv7143825insertion1nstd232human GRCh37.p13 chr2: 96,957,640-96,957,640 , GRCh38.p12 chr2: 96,291,902-96,291,902 SNRNP200
    nsv7142482copy number variation1nstd232human GRCh37.p13 chr2: 96,943,452-96,943,542 , GRCh38.p12 chr2: 96,277,714-96,277,804 SNRNP200
    nsv7142080insertion1nstd232human GRCh37.p13 chr2: 96,970,607-96,970,607 , GRCh38.p12 chr2: 96,304,869-96,304,869 SNRNP200
    nsv7141551copy number variation1nstd232human GRCh37.p13 chr2: 96,949,450-96,949,548 , GRCh38.p12 chr2: 96,283,712-96,283,810 SNRNP200
    nsv7138828insertion1nstd232human GRCh37.p13 chr2: 96,962,809-96,962,809 , GRCh38.p12 chr2: 96,297,071-96,297,071 SNRNP200
    nsv7096680copy number variation1nstd102humanUncertain significance GRCh37 chr2: 96,959,198-96,961,039 , GRCh38.p12 chr2: 96,293,460-96,295,301 SNRNP200
    nsv7041728inversion1nstd229human GRCh38 chr2: 96,267,320-96,273,057 , GRCh37.p13 chr2: 96,933,058-96,938,795 CIAO1, SNRNP200
    nsv7040566inversion1nstd229human GRCh38 chr2: 96,266,244-96,273,057 , GRCh37.p13 chr2: 96,931,982-96,938,795 SNRNP200, TMEM127, 1 more genes
    nsv6683099copy number variation1nstd229human GRCh38 chr2: 96,293,615-96,293,834 , GRCh37.p13 chr2: 96,959,353-96,959,572 SNRNP200
    nsv6637051copy number variation1nstd102humanUncertain significance GRCh37 chr2: 96,628,608-96,981,369 , GRCh38.p12 chr2: 95,962,860-96,315,631 FAHD2CP, ASTL, 12 more genes
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628429copy number variation1nstd224human GRCh37 chr2: 96,747,466-98,186,298 , GRCh38.p12 chr2: 96,081,718-97,569,835 ARID5A, IGKV2OR2-2, 42 more genes
    nsv6628179copy number variation1nstd224human GRCh37 chr2: 96,721,808-98,186,298 , GRCh38.p12 chr2: 96,056,060-97,569,835 ADRA2B, IGKV2OR2-10, 43 more genes
    nsv6547092inversion1nstd223human GRCh38 chr2: 96,007,660-97,097,743 , GRCh37.p13 chr2: 96,673,408-97,763,480 CNNM4, DUSP2, 34 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
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