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Items: 1 to 20 of 36

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314610insertion1nstd102humanPathogenic GRCh37 chr2: 170,083,082-170,083,082 , GRCh38 chr2: 169,226,572-169,226,572 LRP2
    nsv6314725copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 170,034,537-170,076,963 , GRCh38.p12 chr2: 169,178,027-169,220,453 LRP2
    nsv6112728copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 170,134,234-170,137,049 , GRCh38.p12 chr2: 169,277,724-169,280,539 LRP2
    nsv7096584copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 169,999,164-170,038,849 , GRCh38.p12 chr2: 169,142,654-169,182,339 LRP2
    nsv3885836copy number variation1nstd102humanBenign GRCh37 chr2: 170,051,329-170,213,930 , GRCh38.p12 chr2: 169,194,819-169,357,420 LRP2
    nsv7096585copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,022,422-170,033,118 , GRCh38.p12 chr2: 169,165,912-169,176,608 LRP2
    nsv7096211copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,112,596-170,115,747 , GRCh38.p12 chr2: 169,256,086-169,259,237 LRP2
    nsv6311544copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,058,118-170,218,909 , GRCh38.p12 chr2: 169,201,608-169,362,399 LRP2
    nsv1398398copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,009,392-170,072,852 , GRCh38.p12 chr2: 169,152,882-169,216,342 LRP2
    nsv6311351copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,177,271-170,178,245 , GRCh38.p12 chr2: 169,320,761-169,321,735 LRP2
    nsv6311352copy number variation1nstd102humanPathogenic GRCh37 chr2: 170,218,811-170,382,206 , GRCh38.p12 chr2: 169,362,301-169,525,696 LRP2, BBS5, 1 more genes
    nsv7096582copy number variation2nstd102humanUncertain significance GRCh37 chr2: 169,853,125-170,344,644 , GRCh38.p12 chr2: 168,996,615-169,488,134 LRP2, DHRS9, 3 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 LRP2, DAZAP2P1, 2991 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LRP2, LINC01117, 339 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 LRP2, RBM45, 258 more genes
    nsv3904056copy number variation1nstd102humanPathogenic GRCh37 chr2: 164,821,892-183,059,789 , NCBI36 chr2: 164,530,138-182,768,034 , GRCh38 chr2: 163,965,382-182,195,062 LRP2, PRKRA, 256 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 LRP2, EIF3EP3, 158 more genes
    nsv3909452copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,706,627-176,423,918 , GRCh38 chr2: 164,850,117-175,559,190 , NCBI36 chr2: 165,414,873-176,132,164 LRP2, LOC107985959, 141 more genes
    nsv3914220copy number variation1nstd102humanPathogenic NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682 LRP2, GPR155-DT, 111 more genes
    nsv3903934copy number variation1nstd102humanPathogenic GRCh37 chr2: 164,922,548-172,962,614 , NCBI36 chr2: 164,630,794-172,670,860 , GRCh38 chr2: 164,066,038-172,097,886 LRP2, LOC105373739, 95 more genes
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