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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5431151copy number variation1nstd206human GRCh38 chr1: 11,788,390-11,788,448 , GRCh37.p13 chr1: 11,848,447-11,848,505 MTHFR, C1orf167
    nsv5378928translocation1nstd200human GRCh38 chr10: 124,537,533-124,537,533 , GRCh38 chr1: 11,798,856-11,798,856 , GRCh37.p13 chr10: 126,226,102-126,226,102 , GRCh37.p13 chr1: 11,858,913-11,858,913 MTHFR, LHPP
    nsv5353941translocation1nstd200human GRCh38 chr1: 11,785,025-11,785,025 , GRCh38 chr1: 11,785,075-11,785,075 , GRCh37.p13 chr1: 11,845,082-11,845,082 , GRCh37.p13 chr1: 11,845,132-11,845,132 MTHFR, C1orf167
    nsv4681090copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,072,691-11,994,922 , GRCh38.p12 chr1: 11,012,634-11,934,865 FBXO44, LINC01647, 36 more genes
    nsv4674003copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 9,852,396-11,909,475 , GRCh38.p12 chr1: 9,792,338-11,849,418 CLCN6, CORT, 59 more genes
    nsv4567888mobile element insertion1nstd166human GRCh37.p13 chr1: 11,861,656-11,861,656 , GRCh38.p12 chr1: 11,801,599-11,801,599 MTHFR
    nsv4454705copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,246,640-12,841,900 , GRCh38.p12 chr1: 10,186,582-12,781,757 LINC01647, MIR7846, 73 more genes
    nsv4453932copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,846,836-12,055,790 , GRCh38.p12 chr1: 11,786,779-11,995,733 MTHFR, C1orf167, 10 more genes
    nsv4436711copy number variation1nstd102humanPathogenic GRCh37 chr1: 11,794,553-12,786,444 , GRCh38.p12 chr1: 11,734,496-12,726,477 MIR4632, AADACL3, 31 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
    nsv4346738copy number variation1nstd102humanPathogenic GRCh37 chr1: 11,690,766-12,835,739 , GRCh38.p12 chr1: 11,630,709-12,775,596 MIR6729, PLOD1, 38 more genes
    nsv4034112copy number variation1nstd166human GRCh37.p13 chr1: 11,858,000-11,870,000 , GRCh38.p12 chr1: 11,797,943-11,809,943 MTHFR, CLCN6
    nsv3966112insertion1nstd168human GRCh38 chr1: 11,762,458-11,789,621 , GRCh37.p13 chr1: 11,822,515-11,849,678 MTHFR, C1orf167, 2 more genes
    nsv3956249copy number variation1nstd168human GRCh38 chr1: 11,780,529-11,784,257 , GRCh37.p13 chr1: 11,840,586-11,844,314 MTHFR, C1orf167
    nsv3913790copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,370,726-15,979,918 , GRCh37.p13 chr1: 10,448,139-16,107,331 , GRCh38.p12 chr1: 10,388,082-15,780,836 PRAMEF15, LOC105376759, 149 more genes
    nsv3912647copy number variation1nstd102humanUncertain significance NCBI36 chr1: 11,738,153-11,988,728 , GRCh37.p13 chr1: 11,815,566-12,066,141 , GRCh38.p12 chr1: 11,755,509-12,006,084 C1orf167, RNU5E-1, 12 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
    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
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