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

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4681040copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,459,713-26,462,021 , GRCh38.p12 chr2: 26,236,845-26,239,153 HADHA
    nsv6314523complex chromosomal rearrangement3nstd102humanPathogenic GRCh37 chr5: 119,485,964-119,485,964 , GRCh37 chr5: 119,486,003-119,486,003 , GRCh37 chr5: 119,486,172-119,486,172 , GRCh37 chr5: 119,486,176-119,486,176 , GRCh38.p12 chr5: 120,150,269-120,150,269 , GRCh38.p12 chr5: 120,150,308-120,150,308 , GRCh38.p12 chr5: 120,150,477-120,150,477 , GRCh38.p12 chr5: 120,150,481-120,150,481 , GRCh38.p12 chr2: 148,258,393-148,258,393 , GRCh38.p12 chr2: 148,259,189-148,259,189 , GRCh37 chr2: 149,016,758-149,016,758 , GRCh37 chr2: 149,015,962-149,015,962 MBD5
    nsv7096150copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 26,455,008-26,457,243 , GRCh38.p12 chr2: 26,232,140-26,234,375 HADHA
    nsv6314413complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chr5: 6,980,160-6,980,160 , GRCh37 chr5: 6,980,165-6,980,165 , GRCh38.p12 chr5: 6,980,047-6,980,047 , GRCh38.p12 chr5: 6,980,052-6,980,052 , GRCh38.p12 chr2: 201,677,715-201,677,715 , GRCh38.p12 chr2: 201,677,717-201,677,717 , GRCh37 chr2: 202,542,438-202,542,438 , GRCh37 chr2: 202,542,440-202,542,440 MPP4
    nsv943045copy number variation1nstd84human GRCh37 chr2: 32,117,063-32,143,107 , GRCh38.p12 chr2: 31,891,994-31,918,038 MEMO1
    nsv937223copy number variation1nstd84human GRCh37 chr5: 85,110,261-85,125,572 , GRCh38.p12 chr5: 85,814,443-85,829,754 LOC105379062
    nsv943504copy number variation1nstd84human GRCh37 chr2: 97,833,316-97,845,671 , GRCh38.p12 chr2: 97,167,579-97,179,934 ANKRD36
    nsv937521copy number variation1nstd84human GRCh37 chr5: 80,663,510-80,675,190 , GRCh38.p12 chr5: 81,367,691-81,379,371 ACOT12
    nsv943739copy number variation1nstd84human GRCh37 chr2: 97,867,941-97,877,479 , GRCh38.p12 chr2: 97,202,204-97,211,742 ANKRD36
    nsv943594copy number variation1nstd84human GRCh37 chr2: 96,592,964-96,601,393 , GRCh38.p12 chr2: 95,927,216-95,935,645 ANKRD36C
    nsv937554copy number variation1nstd84human GRCh37 chr5: 102,245,956-102,253,652 , GRCh38.p12 chr5: 102,910,252-102,917,948 PAM
    nsv943871copy number variation1nstd84human GRCh37 chr2: 207,304,182-207,309,850 , GRCh38.p12 chr2: 206,439,458-206,445,126 ADAM23
    nsv943696copy number variation1nstd84human GRCh37 chr2: 89,082,253-89,087,864 , GRCh38.p12 chr2: 88,782,736-88,788,347 ANKRD36BP2
    nsv937375copy number variation1nstd84human GRCh37 chr5: 172,410,647-172,415,700 , GRCh38.p12 chr5: 172,983,644-172,988,697 ATP6V0E1
    nsv943102copy number variation1nstd84human GRCh37 chr2: 47,399,841-47,404,494 , GRCh38.p12 chr2: 47,172,702-47,177,355 CALM2
    nsv943423copy number variation1nstd84human GRCh37 chr2: 98,164,001-98,167,944 , GRCh38.p12 chr2: 97,547,538-97,551,481 ANKRD36B
    nsv936680copy number variation1nstd84human GRCh37 chr5: 14,449,478-14,452,630 , GRCh38.p12 chr5: 14,449,369-14,452,521 TRIO
    nsv943518copy number variation1nstd84human GRCh37 chr2: 1,537,474-1,540,495 , GRCh38.p12 chr2: 1,533,702-1,536,723 , GRCh38.p12 chr2|NT_187529.1: 216,073-219,094 TPO
    nsv943797copy number variation1nstd84human GRCh37 chr2: 198,758,637-198,761,573 , GRCh38.p12 chr2: 197,893,913-197,896,849 PLCL1
    nsv936560copy number variation1nstd84human GRCh37 chr5: 132,361,717-132,364,546 , GRCh38.p12 chr5: 133,026,025-133,028,854 ZCCHC10
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