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Items: 1 to 20 of 413

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143447insertion1nstd232human GRCh37.p13 chr2: 242,289,618-242,289,618 , GRCh38.p12 chr2: 241,350,203-241,350,203 SEPTIN2
    nsv7137552insertion1nstd232human GRCh37.p13 chr2: 242,283,312-242,283,312 , GRCh38.p12 chr2: 241,343,897-241,343,897 SEPTIN2
    nsv6712783copy number variation1nstd229human GRCh38 chr2: 241,284,763-241,358,657 , GRCh37.p13 chr2: 242,224,178-242,298,072 SEPTIN2, HDLBP, 1 more genes
    nsv6710240copy number variation1nstd229human GRCh38 chr2: 241,250,690-241,321,272 , GRCh37.p13 chr2: 242,190,105-242,260,687 HDLBP, SEPTIN2, 1 more genes
    nsv6709461copy number variation1nstd229human GRCh38 chr2: 241,272,805-241,342,491 , GRCh37.p13 chr2: 242,212,220-242,281,906 HDLBP, SEPTIN2, 1 more genes
    nsv6706634copy number variation1nstd229human GRCh38 chr2: 241,300,070-241,458,076 , GRCh37.p13 chr2: 242,239,485-242,397,491 FARP2, LOC105373973, 2 more genes
    nsv6705746copy number variation1nstd229human GRCh38 chr2: 241,330,713-241,334,376 , GRCh37.p13 chr2: 242,270,128-242,273,791 SEPTIN2
    nsv6701194copy number variation1nstd229human GRCh38 chr2: 241,350,203-241,351,964 , GRCh37.p13 chr2: 242,289,618-242,291,379 SEPTIN2
    nsv6636841copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,878,509-242,783,384 , GRCh38.p12 chr2: 235,969,865-241,841,232 COPS8-DT, MTND5P46, 128 more genes
    nsv6636673copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,942,616-242,783,384 , GRCh38.p12 chr2: 235,033,972-241,841,232 LINC02991, OR6B3, 136 more genes
    nsv6634398copy number variation1nstd102humanPathogenic GRCh37 chr2: 239,229,304-243,199,373 , GRCh38.p12 chr2: 238,320,663-242,157,305 HDAC4-AS1, ING5, 92 more genes
    nsv6535753inversion1nstd223human GRCh38 chr2: 241,322,598-241,323,419 , GRCh37.p13 chr2: 242,262,013-242,262,834 SEPTIN2
    nsv6348430copy number variation1nstd223human GRCh38 chr2: 237,953,314-241,782,040 , GRCh37.p13 chr2: 238,861,956-242,721,455 HDLBP-AS1, TWIST2, 90 more genes
    nsv6315457copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,472,789-242,783,384 , GRCh38.p12 chr2: 235,564,145-241,841,232 AGAP1, OR5S1P, 130 more genes
    nsv6315436copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232 LOC105373929, LOC105373932, 204 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314846copy number variation1nstd102humanPathogenic GRCh38 chr2: 236,710,422-242,106,504 , GRCh37.p13 chr2: 237,619,065-243,048,655 LINC01937, FAM240C, 126 more genes
    nsv6311660copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 238,233,417-242,801,596 , GRCh38.p12 chr2: 237,324,774-241,859,444 LOC105373968, LOC100420500, 107 more genes
    nsv6311659copy number variation2nstd102humanUncertain significance GRCh37 chr2: 238,233,417-242,800,990 , GRCh38.p12 chr2: 237,324,774-241,858,838 COPS9, LOC105373977, 107 more genes
    nsv6311563copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 236,403,331-242,801,596 , GRCh38.p12 chr2: 235,494,687-241,859,444 HDAC4-AS1, COPS8-DT, 134 more genes
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