Knowledge base for genomic medicine in Japanese
複合カルボキシラーゼ欠損症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)HLCSPathogenic213830916038309161AATcriteria provided, single submitter-
single nucleotide variantNM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)HLCSLikely pathogenic213830903538309035ACcriteria provided, single submitter-
single nucleotide variantNM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter)HLCSPathogenic213830267538302675ATcriteria provided, single submitter-
single nucleotide variantNM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)HLCSPathogenic213830914138309141CAcriteria provided, single submitter-
single nucleotide variantNM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)HLCSPathogenic213830949538309495CAcriteria provided, single submitter-
DuplicationNM_001352514.2(HLCS):c.2260dup (p.Ser754fs)HLCSPathogenic/Likely pathogenic213812903238129033CCTcriteria provided, multiple submitters, no conflicts-
DeletionNM_001352514.2(HLCS):c.712_713del (p.Arg238fs)HLCSLikely pathogenic213830947338309474CCTCcriteria provided, single submitter-
single nucleotide variantNM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)HLCSPathogenic/Likely pathogenic213830264238302642ATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001352514.2(HLCS):c.1620+1G>AHLCSLikely pathogenic213830255038302550CTcriteria provided, single submitter-
DuplicationNM_001352514.2(HLCS):c.1418dup (p.Glu474fs)HLCSPathogenic/Likely pathogenic213830876738308768TTCcriteria provided, multiple submitters, no conflicts-