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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7136951copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 26,467,859-26,486,247 , GRCh38.p12 chr2: 26,244,991-26,263,379 HADHA, HADHB
    nsv7096644copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,416,426-26,418,121 , GRCh38.p12 chr2: 26,193,557-26,195,252 GAREM2, HADHA
    nsv7096626copy number variation1nstd102humanUncertain significance GRCh37 chr2: 26,512,766-26,512,821 , GRCh38.p12 chr2: 26,289,898-26,289,953 HADHB
    nsv7096490copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,414,119-26,462,031 , GRCh38.p12 chr2: 26,191,250-26,239,163 GAREM2, HADHA
    nsv7096150copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 26,455,008-26,457,243 , GRCh38.p12 chr2: 26,232,140-26,234,375 HADHA
    nsv6311662copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,467,378-26,467,464 , GRCh38.p12 chr2: 26,244,510-26,244,596 HADHB, HADHA
    nsv6311493copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,492,801-26,496,638 , GRCh38.p12 chr2: 26,269,933-26,273,770 HADHB
    nsv6311396copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,414,109-26,415,303 , GRCh38.p12 chr2: 26,191,240-26,192,434 GAREM2, HADHA
    nsv5673697copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 26,507,731-26,508,459 , GRCh38.p12 chr2: 26,284,863-26,285,591 HADHB
    nsv5673696copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,416,436-26,418,111 , GRCh38.p12 chr2: 26,193,567-26,195,242 GAREM2, HADHA
    nsv5381577copy number variation1nstd102humanUncertain significance GRCh37 chr2: 26,414,119-26,418,121 , GRCh38.p12 chr2: 26,191,250-26,195,252 GAREM2, HADHA
    nsv4681040copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,459,713-26,462,021 , GRCh38.p12 chr2: 26,236,845-26,239,153 HADHA
    nsv4450964copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,414,109-26,462,021 , GRCh38.p12 chr2: 26,191,240-26,239,153 GAREM2, HADHA
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