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Items: 1 to 20 of 118076

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1398113inversion1nstd102humanPathogenic GRCh38 chr2: 47,445,548-47,483,221 , GRCh37 chr2: 47,672,687-47,710,360 MSH2
    nsv5674295inversion1nstd102humanPathogenic GRCh38 chr12: 32,841,995-32,850,927 , GRCh37 chr12: 32,994,929-33,003,861 PKP2
    nsv5381815inversion1nstd102humanPathogenic GRCh37 chrX: 85,296,960-85,303,374 , GRCh38 chrX: 86,041,956-86,048,370 CHM
    nsv4458074inversion1nstd102humanPathogenic GRCh37 chrX: 48,540,111-48,546,432 , GRCh38 chrX: 48,681,722-48,688,043 WAS
    nsv5381819inversion1nstd102humanPathogenic GRCh38.p12 chr16: 88,879,461-88,880,719 , GRCh37 chr16: 88,945,869-88,947,127 CBFA2T3
    nsv6638079inversion1nstd102humanPathogenic GRCh37 chr5: 112,154,360-112,155,231 , GRCh38 chr5: 112,818,663-112,819,534 APC
    nsv5381824inversion1nstd102humanPathogenic GRCh38 chr6: 162,046,157-162,046,249 , GRCh37 chr6: 162,467,189-162,467,281 PRKN
    nsv6314631complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr12: 13,802,882-13,802,882 , GRCh38.p12 chr12: 13,802,884-13,802,884 , GRCh38.p12 chr12: 81,925,247-81,925,247 , GRCh38.p12 chr12: 81,925,249-81,925,249 , GRCh37 chr12: 13,955,816-13,955,816 , GRCh37 chr12: 13,955,818-13,955,818 , GRCh37 chr12: 82,319,026-82,319,026 , GRCh37 chr12: 82,319,028-82,319,028 GRIN2B
    nsv6314331complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr2: 32,085,365-32,085,365 , GRCh38.p12 chr2: 32,085,642-32,085,642 , GRCh38.p12 chr2: 170,970,733-170,970,733 , GRCh38.p12 chr2: 170,970,733-170,970,733 , GRCh37 chr2: 32,310,434-32,310,434 , GRCh37 chr2: 32,310,711-32,310,711 , GRCh37 chr2: 171,827,243-171,827,243 , GRCh37 chr2: 171,827,243-171,827,243 SPAST
    nsv7093572inversion1nstd102humanLikely pathogenic GRCh37 chr20: 49,515,761-49,525,309 , GRCh38 chr20: 50,899,224-50,908,772 ADNP
    nsv5381814inversion1nstd102humanLikely pathogenic GRCh37 chr5: 140,903,674-140,903,846 , GRCh38 chr5: 141,524,107-141,524,279 DIAPH1
    nsv6314621complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh37 chr5: 24,272,298-24,272,298 , GRCh37 chr5: 24,272,302-24,272,302 , GRCh37 chr5: 88,400,843-88,400,843 , GRCh37 chr5: 88,400,848-88,400,848 , GRCh38.p12 chr5: 24,272,189-24,272,189 , GRCh38.p12 chr5: 24,272,193-24,272,193 , GRCh38.p12 chr5: 89,105,026-89,105,026 , GRCh38.p12 chr5: 89,105,031-89,105,031 MEF2C-AS1
    nsv6314536complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh37 chr7: 52,441,833-52,441,833 , GRCh37 chr7: 52,441,835-52,441,835 , GRCh37 chr7: 121,624,615-121,624,615 , GRCh37 chr7: 121,624,618-121,624,618 , GRCh38.p12 chr7: 52,374,137-52,374,137 , GRCh38.p12 chr7: 52,374,139-52,374,139 , GRCh38.p12 chr7: 121,984,561-121,984,561 , GRCh38.p12 chr7: 121,984,564-121,984,564 PTPRZ1
    nsv5060046inversion1nstd102humanUncertain significance GRCh38 chr10: 87,954,244-87,960,075 , GRCh37 chr10: 89,714,001-89,719,832 PTEN
    nsv5564522inversion1nstd102humanUncertain significance GRCh37 chr7: 152,345,943-152,348,347 , GRCh38 chr7: 152,648,858-152,651,262 XRCC2
    nsv6314613inversion1nstd102humanUncertain significance GRCh37 chrX: 13,786,339-13,786,405 , GRCh38 chrX: 13,768,220-13,768,286 OFD1
    nsv6314573complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr9: 63,838,723-63,838,723 , GRCh38.p12 chr9: 68,221,094-68,221,094 , GRCh38.p12 chr9: 201,090-201,090 , GRCh38.p12 chr9: 201,106-201,106 , GRCh37 chr9: 68,434,457-68,434,457 , GRCh37 chr9: 70,836,010-70,836,010 , GRCh37 chr9: 201,090-201,090 , GRCh37 chr9: 201,106-201,106 FRG1JP
    nsv6314562complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr1: 178,043,835-178,043,835 , GRCh38.p12 chr1: 178,043,837-178,043,837 , GRCh38.p12 chr1: 194,225,340-194,225,340 , GRCh38.p12 chr1: 194,225,342-194,225,342 , GRCh37 chr1: 178,012,970-178,012,970 , GRCh37 chr1: 178,012,972-178,012,972 , GRCh37 chr1: 194,194,470-194,194,470 , GRCh37 chr1: 194,194,472-194,194,472 LOC107985242
    nsv6314499complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chr5: 85,190,301-85,190,301 , GRCh37 chr5: 85,190,325-85,190,325 , GRCh37 chr5: 118,196,906-118,196,906 , GRCh37 chr5: 118,200,609-118,200,609 , GRCh38.p12 chr5: 85,894,483-85,894,483 , GRCh38.p12 chr5: 85,894,507-85,894,507 , GRCh38.p12 chr5: 118,861,211-118,861,211 , GRCh38.p12 chr5: 118,864,914-118,864,914 DTWD2
    nsv6314492complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chr17: 76,072,069-76,072,069 , GRCh37 chr17: 76,072,071-76,072,071 , GRCh37 chr17: 68,446,369-68,446,369 , GRCh37 chr17: 68,446,375-68,446,375 , GRCh38.p12 chr17: 78,075,988-78,075,988 , GRCh38.p12 chr17: 78,075,990-78,075,990 , GRCh38.p12 chr17: 70,450,228-70,450,228 , GRCh38.p12 chr17: 70,450,234-70,450,234 , GRCh38.p12 chr17|NW_003315954.1: 150,004-150,004 , GRCh38.p12 chr17|NW_003315954.1: 150,010-150,010 TNRC6C
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