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)
DeletionNM_001370658.1(BTD):c.534_536del (p.Val179del)BTDPathogenic/Likely pathogenic31568595715685959TGTCTcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001352514.2(HLCS):c.2260dup (p.Ser754fs)HLCSPathogenic/Likely pathogenic213812903238129033CCTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)HLCSPathogenic/Likely pathogenic213830264238302642ATcriteria provided, multiple submitters, no conflicts-
DuplicationNM_001352514.2(HLCS):c.1418dup (p.Glu474fs)HLCSPathogenic/Likely pathogenic213830876738308768TTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_001370658.1(BTD):c.941_942del (p.Ile314fs)BTDPathogenic/Likely pathogenic31568636415686365ATTAcriteria provided, multiple submitters, no conflicts-
DeletionNM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)BTDPathogenic/Likely pathogenic31568671515686716GGCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)BTDPathogenic/Likely pathogenic31568644815686448TAcriteria provided, multiple submitters, no conflicts-
DeletionNM_001370658.1(BTD):c.932_941del (p.His311fs)BTDPathogenic/Likely pathogenic31568635515686364CACCTTATAATCcriteria provided, multiple submitters, no conflicts-
DeletionNM_001370658.1(BTD):c.527del (p.Thr176fs)BTDPathogenic/Likely pathogenic31568595015685950ACAcriteria provided, multiple submitters, no conflictsClinGen:CA658796245
single nucleotide variantNM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)HLCSPathogenic/Likely pathogenic213830259538302595GAcriteria provided, multiple submitters, no conflictsClinGen:CA409911138