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  • The following term was not found in dbVar: Acetonyl.
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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6310828copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,211,473-76,228,458 , GRCh38.p12 chr1: 75,745,788-75,762,773 ACADM
    nsv6314871copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,216,232-76,229,365 , GRCh38.p12 chr1: 75,750,547-75,763,680 ACADM
    nsv6310980copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,190,473-76,200,576 , GRCh38.p12 chr1: 75,724,788-75,734,891 ACADM
    nsv7095636copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,198,435-76,205,598 , GRCh38.p12 chr1: 75,732,750-75,739,913 ACADM
    nsv3881308copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,226,787-76,228,468 , GRCh38 chr1: 75,761,102-75,762,783 ACADM
    nsv4685610copy number variation1nstd102humanPathogenic GRCh37 chr1: 227,149,087-227,149,264 , GRCh38.p12 chr1: 226,961,386-226,961,563 COQ8A
    nsv7096004copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,228,367-76,228,458 , GRCh38.p12 chr1: 75,762,682-75,762,773 ACADM
    nsv4681683copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,190,453-76,190,522 , GRCh38.p12 chr1: 75,724,768-75,724,837 ACADM
    nsv4683435copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,190,463-76,190,512 , GRCh38.p12 chr1: 75,724,778-75,724,827 ACADM
    nsv5059956copy number variation1nstd102humanPathogenic GRCh37 chr12: 120,940,097-120,940,098 , GRCh38 chr12: 120,502,294-120,502,295 COQ5
    nsv6310894copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 76,216,126-76,216,241 , GRCh38.p12 chr1: 75,750,441-75,750,556 ACADM
    nsv3887527copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 76,211,471-76,211,619 , GRCh38 chr1: 75,745,786-75,745,934 ACADM
    nsv3880906copy number variation1nstd102humanPathogenic GRCh37 chr1: 227,150,977-227,195,656 , GRCh38 chr1: 226,963,276-227,007,955 COQ8A, CDC42BPA
    nsv4681864copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,190,463-76,228,458 , GRCh38.p12 chr1: 75,724,778-75,762,773 ACADM, DLSTP1
    nsv4682571copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,190,463-76,216,241 , GRCh38.p12 chr1: 75,724,778-75,750,556 ACADM, DLSTP1
    nsv6311032copy number variation1nstd102humanPathogenic GRCh37 chr1: 76,194,064-76,216,241 , GRCh38.p12 chr1: 75,728,379-75,750,556 ACADM, DLSTP1
    nsv7095364copy number variation1nstd102humanPathogenic GRCh37 chr17: 7,126,433-7,126,544 , GRCh38.p12 chr17: 7,223,114-7,223,225 ACADVL, MIR324
    nsv5673024copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 7,125,898-7,126,003 , GRCh38 chr17: 7,222,579-7,222,684 ACADVL, MIR324
    nsv6311033copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 76,199,203-76,205,805 , GRCh38.p12 chr1: 75,733,518-75,740,120 ACADM, DLSTP1
    nsv7095635copy number variation1nstd102humanUncertain significance GRCh37 chr1: 76,190,473-76,228,448 , GRCh38.p12 chr1: 75,724,788-75,762,763 DLSTP1, ACADM
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