Knowledge base for genomic medicine in Japanese
遺伝性ポルフィリン症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del)HMBSPathogenic11118963127118963156GTGGAAGTGCGAGCCAAGGACCAGGACATCTGcriteria provided, single submitterClinGen:CA658797819
DeletionNM_000190.4(HMBS):c.1078_*46del (p.Ala360fs)HMBSPathogenic11118963984118964038ATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCAcriteria provided, single submitter-
DuplicationNM_000190.4(HMBS):c.891dup (p.Thr298fs)HMBSLikely pathogenic11118963709118963710CCTcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.76C>T (p.Arg26Cys)HMBSPathogenic11118959007118959007CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000190.4(HMBS):c.77G>T (p.Arg26Leu)HMBSPathogenic11118959008118959008GTcriteria provided, single submitter-
DeletionNM_000190.4(HMBS):c.168_169del (p.Met56fs)HMBSPathogenic11118959798118959799ATGAcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.299T>C (p.Leu100Pro)HMBSLikely pathogenic11118960425118960425TCcriteria provided, single submitter-
DeletionNM_000190.4(HMBS):c.323del (p.Phe108fs)HMBSPathogenic11118960448118960448CTCcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.457C>T (p.Gln153Ter)HMBSPathogenic11118960934118960934CTcriteria provided, single submitter-
single nucleotide variantNM_000190.4(HMBS):c.517C>T (p.Arg173Trp)HMBSPathogenic/Likely pathogenic11118962141118962141CTcriteria provided, multiple submitters, no conflicts-