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Items: 1 to 20 of 563

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7139292insertion1nstd232human GRCh37.p13 chr2: 215,999,276-215,999,276 , GRCh38.p12 chr2: 215,134,553-215,134,553 ABCA12
    nsv7099026copy number variation1nstd102humanLikely benign GRCh37 chr2: 215,051,057-216,714,998 , GRCh38.p12 chr2: 214,186,333-215,850,275 LOC102724849, FN1-DT, 16 more genes
    nsv7096607copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,917,191-215,919,408 , GRCh38.p12 chr2: 215,052,467-215,054,684 ABCA12
    nsv7096130copy number variation1nstd102humanUncertain significance GRCh37 chr2: 215,593,400-215,813,893 , GRCh38.p12 chr2: 214,728,676-214,949,169 BARD1, SNHG31, 3 more genes
    nsv7054998inversion1nstd229human GRCh38 chr2: 213,756,606-215,928,356 , GRCh37.p13 chr2: 214,621,330-216,793,079 ABCA12, LINC00607, 19 more genes
    nsv7040681inversion1nstd229human GRCh38 chr2: 213,492,281-215,915,236 , GRCh37.p13 chr2: 214,357,005-216,779,959 LINC00607, LINC01614, 19 more genes
    nsv6694821copy number variation1nstd229human GRCh38 chr2: 215,052,090-215,058,443 , GRCh37.p13 chr2: 215,916,814-215,923,167 ABCA12
    nsv6691426copy number variation1nstd229human GRCh38 chr2: 215,046,725-216,125,546 , GRCh37.p13 chr2: 215,911,449-216,990,269 LOC107985982, ATIC, 12 more genes
    nsv6689685copy number variation1nstd229human GRCh38 chr2: 215,073,434-215,074,180 , GRCh37.p13 chr2: 215,938,157-215,938,903 ABCA12
    nsv6688680copy number variation1nstd229human GRCh38 chr2: 215,087,130-215,151,787 , GRCh37.p13 chr2: 215,951,853-216,016,510 ABCA12
    nsv6685292copy number variation1nstd229human GRCh38 chr2: 215,110,247-215,110,470 , GRCh37.p13 chr2: 215,974,970-215,975,193 ABCA12
    nsv6685230copy number variation1nstd229human GRCh38 chr2: 215,112,520-215,116,405 , GRCh37.p13 chr2: 215,977,243-215,981,128 ABCA12
    nsv6684437copy number variation1nstd229human GRCh38 chr2: 215,135,046-215,138,093 , GRCh37.p13 chr2: 215,999,769-216,002,816 ABCA12
    nsv6684349copy number variation1nstd229human GRCh38 chr2: 215,138,205-215,198,001 , GRCh37.p13 chr2: 216,002,928-216,062,724 ABCA12
    nsv6682682copy number variation1nstd229human GRCh38 chr2: 214,996,051-215,000,825 , GRCh37.p13 chr2: 215,860,775-215,865,549 ABCA12
    nsv6681268copy number variation1nstd229human GRCh38 chr2: 215,112,516-215,164,465 , GRCh37.p13 chr2: 215,977,239-216,029,188 ABCA12
    nsv6679230copy number variation1nstd229human GRCh38 chr2: 215,092,124-215,103,496 , GRCh37.p13 chr2: 215,956,847-215,968,219 ABCA12
    nsv6679112copy number variation1nstd229human GRCh38 chr2: 215,120,925-215,124,185 , GRCh37.p13 chr2: 215,985,648-215,988,908 ABCA12
    nsv6678815copy number variation1nstd229human GRCh38 chr2: 215,084,212-215,087,300 , GRCh37.p13 chr2: 215,948,935-215,952,023 ABCA12
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