Knowledge base for genomic medicine in Japanese
無セルロプラスミン血症
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000096.4(CP):c.3019-1G>ACPPathogenic3148894200148894200CTcriteria provided, single submitterOMIM Allelic Variant:117700.0001
single nucleotide variantNM_000096.4(CP):c.2630G>A (p.Trp877Ter)CPPathogenic3148897374148897374CTcriteria provided, single submitterOMIM Allelic Variant:117700.0003
single nucleotide variantNM_000096.4(CP):c.643C>T (p.Arg215Ter)CPPathogenic3148927136148927136GAcriteria provided, single submitter-
deletionNM_000096.4(CP):c.2066del (p.Pro689fs)CPPathogenic3148904318148904318AGAcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.147-2A>GCPPathogenic3148930487148930487TCcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.928C>G (p.Arg310Gly)CPLikely pathogenic3148925258148925258GCcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.1948G>A (p.Gly650Arg)CPPathogenic/Likely pathogenic3148904436148904436CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000096.4(CP):c.1679G>T (p.Cys560Phe)CPLikely pathogenic3148916188148916188CAcriteria provided, single submitter-
deletionNM_000096.4(CP):c.607+1delCPLikely pathogenic3148927953148927953ACAcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.2879-1G>TCPLikely pathogenic3148895767148895767CAcriteria provided, single submitter-