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Items: 1 to 20 of 172

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098813copy number variation1nstd102humanPathogenic GRCh37 chr12: 176,047-34,179,852 , GRCh38.p12 chr12: 66,881-34,026,917 TDGP1, RPS4XP14, 680 more genes
    nsv7094047copy number variation1nstd102humanUncertain significance GRCh37 chr12: 4,368,352-9,027,607 , GRCh38.p12 chr12: 4,259,186-8,875,011 ACRBP, OR7E148P, 165 more genes
    nsv7074628inversion1nstd229human GRCh38 chr12: 5,173,229-8,663,348 , GRCh37.p13 chr12: 5,282,395-8,815,944 P3H3, LOC105369621, 141 more genes
    nsv7072221inversion1nstd229human GRCh38 chr12: 4,055,290-11,695,188 , GRCh37.p13 chr12: 4,164,456-11,848,122 RN7SL69P, KLRA1P, 285 more genes
    nsv6930965copy number variation1nstd229human GRCh38 chr12: 4,486,494-6,353,198 , GRCh37.p13 chr12: 4,595,660-6,462,364 LOC112268088, NTF3, 34 more genes
    nsv6927876copy number variation1nstd229human GRCh38 chr12: 5,938,604-6,145,769 , GRCh37.p13 chr12: 6,047,770-6,254,935 VWF, RN7SL69P, 2 more genes
    nsv6927696copy number variation1nstd229human GRCh38 chr12: 5,913,951-6,167,198 , GRCh37.p13 chr12: 6,023,117-6,276,364 RN7SL69P, SNORA120, 3 more genes
    nsv6918482copy number variation1nstd229human GRCh38 chr12: 6,048,067-6,109,110 , GRCh37.p13 chr12: 6,157,233-6,218,276 VWF, RN7SL69P
    nsv6637376copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,787-8,320,544 , GRCh38.p12 chr12: 64,621-8,167,948 GCSHP4, RNU7-1, 220 more genes
    nsv6472373copy number variation1nstd223human GRCh38 chr12: 6,012,501-7,083,600 , GRCh37.p13 chr12: 6,121,667-7,189,876 GPR162, CD27, 71 more genes
    nsv6472196copy number variation1nstd223human GRCh38 chr12: 6,013,501-7,083,700 , GRCh37.p13 chr12: 6,122,667-7,189,876 SCARNA10, ATP5MFP5, 71 more genes
    nsv6465800copy number variation1nstd223human GRCh38 chr12: 6,088,478-6,144,986 , GRCh37.p13 chr12: 6,197,644-6,254,152 RN7SL69P, VWF
    nsv6315056copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 6,105,389-6,233,842 , GRCh38.p12 chr12: 5,996,223-6,124,676 VWF, RN7SL69P, 1 more genes
    nsv6314017copy number variation1nstd102humanPathogenic GRCh37 chr12: 6,024,262-6,276,970 , GRCh38.p12 chr12: 5,915,096-6,167,804 RN7SL69P, VWF, 2 more genes
    nsv6290254copy number variation1nstd102humanPathogenic GRCh37 chr12: 146,240-8,330,229 , GRCh38.p12 chr12: 45,740-8,177,633 CLEC4A, FBXL14, 220 more genes
    nsv6132700copy number variation1nstd213human GRCh37 chr12: 5,920,000-6,220,001 , GRCh38.p12 chr12: 5,810,834-6,110,835 VWF, ANO2, 3 more genes
    nsv6132422copy number variation1nstd213human GRCh37 chr12: 190,000-30,830,001 , GRCh38.p12 chr12: 80,834-30,677,067 , A2M, 622 more genes
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv5921920copy number variation1nstd209human GRCh38 chr12: 3,058,695-6,171,259 , GRCh37.p13 chr12: 3,167,861-6,280,425 , LOC105369623, 54 more genes
    nsv5564515copy number variation1nstd102humanPathogenic GRCh37 chr12: 6,126,037-6,233,842 , GRCh38.p12 chr12: 6,016,871-6,124,676 VWF, RN7SL69P, 1 more genes
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