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Items: 1 to 20 of 835

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148217copy number variation1nstd102humanPathogenic GRCh38 chr2: 110,123,182-110,205,164 , GRCh37.p13 chr2: 110,880,759-110,962,741 ACTR1AP1, NPHP1
    nsv7137141copy number variation1nstd102humanPathogenic GRCh38 chr2: 110,091,573-110,212,811 , GRCh37.p13 chr2: 110,849,150-110,970,388 MALL, ACTR1AP1, 2 more genes
    nsv7093193copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 110,958,858-110,959,064 , GRCh38 chr2: 110,201,281-110,201,487 NPHP1
    nsv7056663inversion1nstd229human GRCh38 chr2: 110,136,858-110,144,431 , GRCh37.p13 chr2: 110,894,435-110,902,008 NPHP1
    nsv7055512inversion1nstd229human GRCh38 chr2: 110,180,582-110,184,391 , GRCh37.p13 chr2: 110,938,159-110,941,968 ACTR1AP1, NPHP1
    nsv7052468inversion1nstd229human GRCh38 chr2: 109,726,921-110,637,321 , GRCh37.p13 chr2: 110,484,498-111,394,898 LOC105373553, NPHP1, 39 more genes
    nsv7050678inversion1nstd229human GRCh38 chr2: 110,202,355-110,205,537 , GRCh37.p13 chr2: 110,959,932-110,963,114 NPHP1
    nsv7045917inversion1nstd229human GRCh38 chr2: 110,144,278-110,148,549 , GRCh37.p13 chr2: 110,901,855-110,906,126 NPHP1
    nsv7039639inversion1nstd229human GRCh38 chr2: 110,165,426-110,165,546 , GRCh37.p13 chr2: 110,923,003-110,923,123 NPHP1
    nsv7038094inversion1nstd229human GRCh38 chr2: 106,480,616-110,213,336 , GRCh37.p13 chr2: 107,097,072-110,970,913 WASF1P1, LOC105373985, 72 more genes
    nsv6697969copy number variation1nstd229human GRCh38 chr2: 110,095,101-110,258,100 , GRCh37.p13 chr2: 110,852,678-111,015,677 MALL, LOC100507334, 3 more genes
    nsv6694714copy number variation1nstd229human GRCh38 chr2: 110,095,201-110,228,200 , GRCh37.p13 chr2: 110,852,778-110,985,777 NPHP1, MTLN, 2 more genes
    nsv6687518copy number variation1nstd229human GRCh38 chr2: 110,105,001-110,228,600 , GRCh37.p13 chr2: 110,862,578-110,986,177 MTLN, NPHP1, 2 more genes
    nsv6686545copy number variation1nstd229human GRCh38 chr2: 103,585,907-110,943,040 , GRCh37.p13 chr2: 104,202,365-111,700,617 PPP1R2P5, CAPZBP1, 142 more genes
    nsv6682274copy number variation1nstd229human GRCh38 chr2: 110,080,401-110,228,200 , GRCh37.p13 chr2: 110,837,978-110,985,777 MTLN, MALL, 3 more genes
    nsv6679287copy number variation1nstd229human GRCh38 chr2: 110,077,301-110,311,100 , GRCh37.p13 chr2: 110,834,878-111,068,677 LOC100507334, ACTR1AP1, 5 more genes
    nsv6636080copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 110,880,912-110,889,255 , GRCh38.p12 chr2: 110,123,335-110,131,678 NPHP1
    nsv6635291copy number variation1nstd227human GRCh38.p12 chr2: 110,095,298-110,222,769 , GRCh37 chr2: 110,852,875-110,980,346 NPHP1, MALL, 2 more genes
    nsv6634903copy number variation1nstd227human GRCh37 chr2: 110,477,792-110,980,346 , GRCh38.p12 chr2: 109,720,215-110,222,769 NPHP1, MALL, 23 more genes
    nsv6634363copy number variation1nstd102humanUncertain significance GRCh37 chr2: 110,498,141-111,365,996 , GRCh38.p12 chr2: 109,740,564-110,608,419 NPHP1, MIR4436B1, 34 more genes
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