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_000060.2(BTD):c.933delT (p.Ser311Argfs)BTDPathogenic/Likely pathogenic31568629615686296T-criteria provided, multiple submitters, no conflictsHGMD:CD982510
single nucleotide variantNM_001281723.2(BTD):c.284A>G (p.Tyr95Cys)BTDLikely pathogenic31567716415677164AGcriteria provided, single submitter-
single nucleotide variantNM_001281723.2(BTD):c.340G>C (p.Glu114Gln)BTDLikely pathogenic31568343915683439GCcriteria provided, single submitter-
single nucleotide variantNM_001281723.2(BTD):c.347G>T (p.Gly116Val)BTDPathogenic/Likely pathogenic31568344615683446GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001281723.2(BTD):c.430C>A (p.Pro144Thr)BTDLikely pathogenic31568352915683529CAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001281723.2(BTD):c.449G>A (p.Arg150His)BTDLikely pathogenic31568354815683548GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001281723.2(BTD):c.465G>A (p.Glu155=)BTDPathogenic/Likely pathogenic31568356415683564GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001281723.2(BTD):c.472C>T (p.Gln158Ter)BTDPathogenic31568582915685829CTcriteria provided, single submitter-
single nucleotide variantNM_001281723.2(BTD):c.475C>T (p.Arg159Cys)BTDLikely pathogenic31568583215685832CTcriteria provided, single submitter-
single nucleotide variantNM_001281723.2(BTD):c.534G>T (p.Lys178Asn)BTDPathogenic/Likely pathogenic31568589115685891GTcriteria provided, multiple submitters, no conflictsHGMD:CM993550