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.1948G>A (p.Gly650Arg)CPPathogenic/Likely pathogenic3148904436148904436CTcriteria provided, multiple submitters, no conflictsClinGen:CA2660874
DeletionNM_000096.4(CP):c.2066del (p.Pro689fs)CPPathogenic/Likely pathogenic3148904318148904318AGAcriteria provided, multiple submitters, no conflictsClinGen:CA344601
single nucleotide variantNM_000096.4(CP):c.2253G>A (p.Trp751Ter)CPPathogenic3148903058148903058CTcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.2498C>G (p.Ser833Ter)CPPathogenic3148899848148899848GCcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.2630G>A (p.Trp877Ter)CPPathogenic3148897374148897374CTcriteria provided, single submitterClinGen:CA127258,OMIM:117700.0003
single nucleotide variantNM_000096.4(CP):c.2701C>T (p.Arg901Ter)CPPathogenic3148896379148896379GAcriteria provided, multiple submitters, no conflictsClinGen:CA344578
DuplicationNM_000096.4(CP):c.2702dup (p.Arg902fs)CPPathogenic3148896377148896378TTCcriteria provided, single submitter-
single nucleotide variantNM_000096.4(CP):c.2756T>C (p.Leu919Pro)CPPathogenic/Likely pathogenic3148896324148896324AGcriteria provided, multiple submitters, no conflictsClinGen:CA354929700
single nucleotide variantNM_000096.4(CP):c.2879-1G>TCPLikely pathogenic3148895767148895767CAcriteria provided, multiple submitters, no conflictsClinGen:CA85528141
single nucleotide variantNM_000096.4(CP):c.3019-1G>ACPPathogenic3148894200148894200CTcriteria provided, single submitterClinGen:CA127255,OMIM:117700.0001