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Items: 1 to 20 of 371

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148157copy number variation1nstd102humanPathogenic GRCh38 chr4: 85,624-57,073,230 , GRCh37.p13 chr4: 507,005-57,939,396 OR7E84P, FAM193A, 764 more genes
    nsv7097256copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr4: 55,124,936-57,368,027 , GRCh38.p12 chr4: 54,258,769-56,501,861 AASDH, EXOC1, 40 more genes
    nsv7043890inversion1nstd229human GRCh38 chr4: 55,335,201-55,508,922 , GRCh37.p13 chr4: 56,201,368-56,375,089 TMEM165, SRD5A3-AS1, 4 more genes
    nsv6730000copy number variation1nstd229human GRCh38 chr4: 55,445,105-55,445,276 , GRCh37.p13 chr4: 56,311,272-56,311,443 TMEM165, CLOCK
    nsv6729778copy number variation1nstd229human GRCh38 chr4: 55,438,286-55,439,523 , GRCh37.p13 chr4: 56,304,453-56,305,690 CLOCK, TMEM165
    nsv6723485copy number variation1nstd229human GRCh38 chr4: 55,332,176-55,534,874 , GRCh37.p13 chr4: 56,198,343-56,401,041 TMEM165, CLOCK, 4 more genes
    nsv6637063copy number variation1nstd102humanUncertain significance GRCh37 chr4: 52,685,980-59,272,025 , GRCh38.p12 chr4: 51,819,814-58,405,859 SPINK2, RN7SL492P, 100 more genes
    nsv6563613inversion1nstd223human GRCh38 chr4: 55,421,167-55,421,467 , GRCh37.p13 chr4: 56,287,334-56,287,634 TMEM165
    nsv6388756copy number variation1nstd223human GRCh38 chr4: 55,400,401-55,401,800 , GRCh37.p13 chr4: 56,266,568-56,267,967 TMEM165
    nsv6388385copy number variation1nstd223human GRCh38 chr4: 55,407,017-55,407,419 , GRCh37.p13 chr4: 56,273,184-56,273,586 TMEM165
    nsv6388261copy number variation1nstd223human GRCh38 chr4: 55,438,286-55,439,523 , GRCh37.p13 chr4: 56,304,453-56,305,690 CLOCK, TMEM165
    nsv6385429copy number variation1nstd223human GRCh38 chr4: 55,400,590-55,402,823 , GRCh37.p13 chr4: 56,266,757-56,268,990 TMEM165
    nsv6377891copy number variation1nstd223human GRCh38 chr4: 55,400,101-55,402,900 , GRCh37.p13 chr4: 56,266,268-56,269,067 TMEM165
    nsv6315421copy number variation1nstd102humanPathogenic GRCh37 chr4: 53,688,710-56,491,447 , GRCh38.p12 chr4: 52,822,543-55,625,280 METTL5P3, RPL38P3, 38 more genes
    nsv6311837copy number variation2nstd102humanUncertain significance GRCh37 chr4: 55,124,936-57,798,318 , GRCh38.p12 chr4: 54,258,769-56,932,152 GLDCP1, KDR, 54 more genes
    nsv6308635insertion1nstd186human GRCh37 chr4: 56,279,498-56,279,511 , GRCh38.p12 chr4: 55,413,331-55,413,344 TMEM165
    nsv6291432copy number variation1nstd102humanPathogenic GRCh37 chr4: 52,866,944-143,582,507 , GRCh38.p12 chr4: 52,000,778-142,661,354 SNHG27, TNIP3, 1091 more genes
    nsv6291206copy number variation1nstd102humanPathogenic GRCh37 chr4: 52,685,685-58,104,722 , GRCh38.p12 chr4: 51,819,519-57,238,556 SRD5A3, DCUN1D4, 96 more genes
    nsv6244091mobile element insertion1nstd215human GRCh38 chr4: 55,401,128-55,401,128 , GRCh37.p13 chr4: 56,267,295-56,267,295 TMEM165
    nsv6135345copy number variation1nstd213human GRCh37 chr4: 55,360,000-63,180,001 , GRCh38.p12 chr4: 54,493,833-62,314,283 GLDCP1, IGFBP7, 82 more genes
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