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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5876586copy number variation1nstd209human GRCh38 chr1: 156,132,821-156,133,758 , GRCh37.p13 chr1: 156,102,612-156,103,549 LMNA
    nsv5875962copy number variation1nstd209human GRCh38 chr1: 156,110,758-156,111,230 , GRCh37.p13 chr1: 156,080,549-156,081,021 LMNA
    nsv5673399copy number variation1nstd102humanPathogenic GRCh37 chr1: 156,084,700-156,108,907 , GRCh38.p12 chr1: 156,114,909-156,139,116 LMNA
    nsv5673311copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 156,104,586-156,108,907 , GRCh38.p12 chr1: 156,134,795-156,139,116 LMNA
    nsv5673153copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 156,105,681-156,107,037 , GRCh38.p12 chr1: 156,135,890-156,137,246 LMNA
    nsv5610213insertion1nstd207human GRCh38 chr1: 156,087,220-156,087,220 , GRCh37.p13 chr1: 156,057,011-156,057,011 LMNA
    nsv5564239copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr1: 156,083,461-156,110,880 , GRCh38.p12 chr1: 156,113,670-156,141,089 LMNA
    nsv5381287copy number variation1nstd102humanUncertain significance GRCh37 chr1: 156,084,707-156,108,897 , GRCh38.p12 chr1: 156,114,916-156,139,106 LMNA
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5209284copy number variation1nstd204human GRCh38.p13 chr1: 156,136,401-156,327,400 , GRCh37.p13 chr1: 156,106,192-156,297,191 PAQR6, SEMA4A, 10 more genes
    nsv5061405mobile element insertion1nstd203human GRCh38 chr1: 156,102,024-156,102,037 , GRCh37.p13 chr1: 156,071,815-156,071,828 LMNA
    nsv4784332copy number variation1nstd200human GRCh37 chr1: 156,102,614-156,103,550 , GRCh38.p12 chr1: 156,132,823-156,133,759 LMNA
    nsv4784331copy number variation1nstd200human GRCh37 chr1: 156,057,175-156,057,821 , GRCh38.p12 chr1: 156,087,384-156,088,030 LMNA
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4578470copy number variation1nstd102humanPathogenic GRCh37 chr1: 156,104,795-156,106,167 , GRCh38 chr1: 156,135,004-156,136,376 LMNA
    nsv4516948copy number variation1nstd166human GRCh37.p13 chr1: 156,052,366-156,053,302 , GRCh38.p12 chr1: 156,082,575-156,083,511 MEX3A, LMNA
    nsv4459014mobile element insertion1nstd166human GRCh37.p13 chr1: 156,071,812-156,071,812 , GRCh38.p12 chr1: 156,102,021-156,102,021 LMNA
    nsv4458959mobile element insertion1nstd166human GRCh37.p13 chr1: 156,079,520-156,079,520 , GRCh38.p12 chr1: 156,109,729-156,109,729 LMNA
    nsv4455025copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 156,104,184-156,104,329 , GRCh38 chr1: 156,134,393-156,134,538 LMNA
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