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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 ATIC, BARD1, 594 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 AAMP, ACADL, 510 more genes
    nsv4359574copy number variation1nstd102humanPathogenic NCBI36 chr2: 189,391,166-242,656,032 , GRCh37.p13 chr2: 189,682,921-243,007,359 , GRCh38.p12 chr2: 188,818,195-242,065,208 AAMP, ACADL, 933 more genes
    nsv4359516copy number variation1nstd102humanPathogenic NCBI36 chr2: 219,654,586-226,003,268 , GRCh37.p13 chr2: 219,946,342-226,295,024 , GRCh38.p12 chr2: 219,081,620-225,430,308 EPHA4, ACSL3, 103 more genes
    nsv4359258copy number variation1nstd102humanUncertain significance NCBI36 chr2: 219,654,586-220,331,844 , GRCh37.p13 chr2: 219,946,342-220,623,600 , GRCh38.p12 chr2: 219,081,620-219,758,878 DES, DNAJB2, 37 more genes
    nsv4358194copy number variation1nstd102humanPathogenic NCBI36 chr2: 218,674,727-242,717,069 , GRCh37.p13 chr2: 218,966,482-243,059,659 , GRCh38.p12 chr2: 218,101,759-242,126,245 CHRNG, CYP27A1, 499 more genes
    nsv4357746copy number variation1nstd102humanPathogenic NCBI36 chr2: 211,152,645-242,717,069 , GRCh37.p13 chr2: 211,444,400-243,059,659 , GRCh38.p12 chr2: 210,579,676-242,126,245 AAMP, ATIC, 585 more genes
    nsv4356729copy number variation1nstd102humanPathogenic NCBI36 chr2: 181,086,765-224,875,809 , GRCh37.p13 chr2: 181,378,520-225,167,565 , GRCh38.p12 chr2: 180,513,793-224,302,848 AAMP, ACADL, 667 more genes
    nsv4354760copy number variation1nstd102humanPathogenic NCBI36 chr2: 195,471,752-237,047,295 , GRCh37.p13 chr2: 195,763,507-237,382,556 , GRCh38.p12 chr2: 194,898,783-236,473,913 ALPI, ALPG, 722 more genes
    nsv4352736copy number variation1nstd102humanPathogenic NCBI36 chr2: 190,883,707-242,483,594 , GRCh37.p13 chr2: 191,175,462-242,834,921 , GRCh38.p12 chr2: 190,310,736-241,892,770 AAMP, ACADL, 900 more genes
    nsv4347130copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,300,875-242,783,384 , GRCh38.p12 chr2: 189,436,149-241,841,232 AGXT, ALPP, 915 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 ATIC, BARD1, 342 more genes
    nsv4292438insertion1nstd166human GRCh37.p13 chr2: 206,247,864-224,251,740 , GRCh38.p12 chr2: 205,383,140-223,387,022 ATIC, CRYGB, 316 more genes
    nsv4291019insertion1nstd166human GRCh37.p13 chr2: 172,414,987-225,883,369 , GRCh38.p12 chr2: 171,558,477-225,018,652 ATIC, ALDH7A1P2, 832 more genes
    nsv4290970insertion1nstd166human GRCh37.p13 chr2: 18,880,382-238,962,643 , GRCh38.p12 chr2: 18,699,116-238,054,002 ACVR2A, ACYP2, 3510 more genes
    nsv4279360insertion1nstd166human GRCh37.p13 chr2: 131,119,068-230,951,061 , GRCh38.p12 chr2: 130,361,495-230,086,345 ACVR2A, ATP5F1AP2, 1410 more genes
    nsv4086457copy number variation1nstd166human GRCh37.p13 chr2: 220,283,686-220,283,802 , GRCh38.p12 chr2: 219,418,964-219,419,080 DES
    nsv4084122copy number variation1nstd166human GRCh37.p13 chr2: 220,290,911-220,293,171 , GRCh38.p12 chr2: 219,426,189-219,428,449 DES
    nsv3989494mobile element insertion1nstd166human GRCh37.p13 chr2: 54,359,811-237,001,338 , GRCh38.p12 chr2: 54,132,674-236,092,694 ALPP, ATP5F1AP2, 2914 more genes
    nsv3987280mobile element insertion1nstd166human GRCh37.p13 chr2: 57,467,799-222,034,201 , GRCh38.p12 chr2: 57,240,664-221,169,481 AAMP, ACADL, 2618 more genes
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