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Items: 14

  • The following term was not found in dbVar: hydroxybutanoate.
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    Number of Variants: 14

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683353copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,308-149,270,530 , GRCh38.p12 chr2: 148,458,739-148,512,961 MBD5
    nsv6311459copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,328-149,228,050 , GRCh38.p12 chr2: 148,458,759-148,470,481 MBD5
    nsv4683691copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,308-149,221,508 , GRCh38.p12 chr2: 148,458,739-148,463,939 MBD5
    nsv4681134copy number variation2nstd102humanPathogenic, Likely benign GRCh37 chr2: 149,216,328-149,270,510 , GRCh38.p12 chr2: 148,458,759-148,512,941 MBD5
    nsv7096200copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,328-149,221,508 , GRCh38.p12 chr2: 148,458,759-148,463,939 MBD5
    nsv5673291copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 149,267,619-149,267,714 , GRCh38.p12 chr2: 148,510,050-148,510,145 MBD5
    nsv3870832copy number variation1nstd102humanUncertain significance GRCh37 chr2: 149,216,308-149,270,530 , GRCh38 chr2: 148,458,739-148,512,961 MBD5
    nsv1398026copy number variation1nstd102humanPathogenic NCBI36 chr2: 148,432,391-148,737,275 , GRCh37 chr2: 148,715,921-149,020,805 , GRCh38 chr2: 147,958,352-148,263,236 LOC105373673, ORC4, 2 more genes
    nsv6315419copy number variation1nstd102humanPathogenic GRCh37 chr2: 148,698,834-148,954,778 , GRCh38.p12 chr2: 147,941,265-148,197,209 LOC105373673, ORC4, 2 more genes
    nsv6137856copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,036,328-149,248,198 , GRCh38.p12 chr2: 148,278,759-148,490,629 MBD5, USP12P2, 1 more genes
    nsv6311293copy number variation1nstd102humanPathogenic GRCh37 chr2: 148,730,288-149,270,510 , GRCh38.p12 chr2: 147,972,719-148,512,941 ORC4, MBD5, 4 more genes
    nsv1398486copy number variation1nstd102humanPathogenic NCBI36 chr2: 146,798,229-150,310,317 , GRCh37.p13 chr2: 147,081,759-150,602,071 , GRCh38.p12 chr2: 146,324,191-149,745,557 LINC01911, MBD5, 38 more genes
    nsv1398418copy number variation1nstd102humanPathogenic NCBI36 chr2: 148,447,496-149,377,297 , GRCh38 chr2: 147,973,457-148,903,258 , GRCh37 chr2: 148,731,026-149,660,827 USP12P2, USP8P2, 14 more genes
    nsv7137076copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 149,220,152-149,633,312 , GRCh38.p12 chr2: 148,462,583-148,875,743 KIF5C, UBBP3, 8 more genes
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