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Items: 1 to 20 of 114

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3069206insertion1nstd90human GRCh37 (hg19) chr1: 45,795,708-45,795,709 , GRCh38 (hg38) chr1: 45,330,036-45,330,037 MUTYH
    nsv3064132insertion1nstd140human GRCh38 (hg38) chr1: 45,330,037-45,330,038 , GRCh37 (hg19) chr1: 45,795,709-45,795,710 MUTYH
    nsv2801873insertion1nstd137human GRCh38 (hg38) chr1: 45,330,023-45,330,023 , GRCh37 (hg19) chr1: 45,795,695-45,795,695 MUTYH
    nsv2775392copy number variation1nstd37humanLikely pathogenic GRCh37 (hg19) chr1: 45,303,358-52,157,856 , GRCh38 (hg38) chr1: 44,837,686-51,692,184 , NCBI36 (hg18) chr1: 45,075,945-51,930,444 EFCAB14-AS1, MKNK1-AS1, 73 more genes
    nsv2772868copy number variation2nstd37humanPathogenic GRCh37 (hg19) chr1: 849,467-249,224,684 , GRCh38 (hg38) chr1: 914,087-248,930,485 , NCBI36 (hg18) chr1: 839,330-247,191,307 AKT3, MIR942, 2724 more genes
    nsv2769246copy number variation1nstd37humanUncertain significance GRCh37 (hg19) chr1: 45,715,667-46,501,705 , GRCh38 (hg38) chr1: 45,249,995-46,036,033 , NCBI36 (hg18) chr1: 45,488,254-46,274,292 AKR1A1, TESK2, 13 more genes
    nsv1491466short tandem repeat6nstd128human GRCh37 (hg19) chr1: 45,804,403-45,804,445 , GRCh38 (hg38) chr1: 45,338,731-45,338,773 MUTYH
    nsv1491465short tandem repeat3nstd128human GRCh37 (hg19) chr1: 45,802,820-45,802,833 , GRCh38 (hg38) chr1: 45,337,148-45,337,161 MUTYH
    nsv1491464short tandem repeat1nstd128human GRCh37 (hg19) chr1: 45,801,486-45,801,508 , GRCh38 (hg38) chr1: 45,335,814-45,335,836 MUTYH
    nsv1491463short tandem repeat2nstd128human GRCh37 (hg19) chr1: 45,801,131-45,801,141 , GRCh38 (hg38) chr1: 45,335,459-45,335,469 MUTYH
    nsv1398107copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr1: 45,567,564-45,571,583 , GRCh37 (hg19) chr1: 45,794,977-45,798,996 , GRCh38 (hg38) chr1: 45,329,305-45,333,324 MUTYH
    nsv1197538complex substitution1nstd51humanPathogenic GRCh37 (hg19) chr1: 45,794,768-45,799,052 , GRCh38 (hg38) chr1: 45,329,096-45,333,380 MUTYH
    nsv1192077copy number variation1nstd113human NCBI36 (hg18) chr1: 45,506,183-45,728,432 , GRCh37 (hg19) chr1: 45,733,596-45,955,845 , GRCh38 (hg38) chr1: 45,267,924-45,490,173 TESK2, TOE1, 3 more genes
    nsv1188018copy number variation1nstd113human NCBI36 (hg18) chr1: 37,169,425-56,120,923 , GRCh37 (hg19) chr1: 37,396,838-56,348,335 , GRCh38 (hg38) chr1: 36,931,237-55,882,662 TRNAK-CUU, TMEM269, 279 more genes
    nsv1146931inversion1nstd107human GRCh37 (hg19) chr1: 6,858,651-214,875,307 , GRCh38 (hg38) chr1: 6,798,591-214,701,964 MIR942, MIR190B, 2284 more genes
    nsv1133024inversion1nstd106human GRCh37 (hg19) chr1: 45,789,334-45,795,708 , GRCh38 (hg38) chr1: 45,323,662-45,330,036 MUTYH, HPDL
    nsv1132997inversion1nstd106human GRCh37 (hg19) chr1: 16,843,414-234,953,211 , GRCh38 (hg38) chr1: 16,516,919-234,817,464 MIR942, MIR190B, 2311 more genes
    nsv1130629copy number variation1nstd106human GRCh37 (hg19) chr1: 16,926,343-149,118,854 , GRCh38 (hg38) chr1: 16,599,848-149,532,129 MIR942, MIR760, 1213 more genes
    esv3815443copy number variation1estd192human GRCh37 (hg19) chr1: 14,660,218-180,369,490 , GRCh38 (hg38) chr1: 14,333,723-180,400,355 MIR942, MIR190B, 1860 more genes
    esv3807919copy number variation1estd192human GRCh37 (hg19) chr1: 40,828,753-62,887,011 , GRCh38 (hg38) chr1: 40,363,081-62,421,340 TRNAK-CUU, TMEM269, 255 more genes
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