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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 RNU1-6P, TRG-CCC4-1, 150 more genes
    nsv4594023copy number variation1nstd183human GRCh37 chr1: 16,321,010-16,514,486 , GRCh38.p12 chr1: 15,994,515-16,187,991 CLCNKA, CLCNKB, 6 more genes
    nsv4453267copy number variation1nstd102humanUncertain significance GRCh37 chr1: 16,096,742-16,725,355 , GRCh38.p12 chr1: 15,770,247-16,398,860 RPL12P14, HSPB7, 21 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4412634copy number variation1nstd174human GRCh37 chr1: 16,345,255-16,379,416 , GRCh38.p12 chr1: 16,018,760-16,052,921 CLCNKA, CLCNKB, 2 more genes
    nsv4405792copy number variation1nstd174human GRCh37 chr1: 16,344,664-16,403,632 , GRCh38.p12 chr1: 16,018,169-16,077,137 CLCNKA, CLCNKB, 3 more genes
    nsv4319008sequence alteration1nstd166human GRCh38.p12 chr1: 15,984,317-16,189,120 , GRCh37.p13 chr1: 16,310,812-16,515,615 CLCNKA, CLCNKB, 6 more genes
    nsv3912305copy number variation1nstd102humanPathogenic NCBI36 chr1: 8,912,677-16,390,632 , GRCh37.p13 chr1: 8,990,090-16,518,045 , GRCh38.p12 chr1: 8,930,031-16,191,550 DDI2, RN7SL614P, 200 more genes
    nsv3909483copy number variation1nstd102humanPathogenic NCBI36 chr1: 13,819,061-18,665,253 , GRCh38 chr1: 13,619,979-18,466,172 , GRCh37 chr1: 13,946,474-18,792,666 TMEM51, FBLIM1, 117 more genes
    nsv3908546copy number variation1nstd102humanPathogenic GRCh38 chr1: 6,554,885-16,056,011 , GRCh37 chr1: 6,614,945-16,382,506 , NCBI36 chr1: 6,537,532-16,255,093 LOC105376717, LOC107984915, 244 more genes
    nsv3906823copy number variation1nstd102humanPathogenic NCBI36 chr1: 12,707,339-16,233,870 , GRCh38 chr1: 12,724,785-16,034,788 , GRCh37 chr1: 12,784,752-16,361,283 AGMAT, HNRNPCL2, 90 more genes
    nsv3900501copy number variation1nstd102humanPathogenic GRCh38 chr1: 3,006,193-17,688,934 , GRCh37 chr1: 2,922,757-18,015,429 , NCBI36 chr1: 2,912,617-17,888,016 MFFP1, RPL21P21, 364 more genes
    nsv3900236copy number variation1nstd102humanPathogenic GRCh38 chr1: 5,363,826-18,360,302 , GRCh37 chr1: 5,423,886-18,686,796 , NCBI36 chr1: 5,323,746-18,559,383 PDPN, PADI1, 333 more genes
    nsv3899453copy number variation1nstd102humanLikely benign NCBI36 chr1: 16,219,025-16,248,140 , GRCh38 chr1: 16,019,943-16,049,058 , GRCh37 chr1: 16,346,438-16,375,553 FAM131C2P, CLCNKB, 2 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 EMC1-AS1, TRV-CAC11-2, 166 more genes
    nsv3899259copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 15,251,130-16,698,955 , GRCh37 chr1: 15,378,543-16,826,368 , GRCh38 chr1: 15,052,047-16,499,873 CASP9, CD24P1, 51 more genes
    nsv3898082copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,008,307-19,988,832 , NCBI36 chr1: 15,880,894-19,861,419 , GRCh38 chr1: 15,681,812-19,662,339 ESPNP, CROCC, 114 more genes
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