Knowledge base for genomic medicine in Japanese
無セルロプラスミン血症
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000096.4(CP):c.3019-1G>ACPPathogenic3148894200148894200CTcriteria provided, single submitterClinGen:CA127255,OMIM:117700.0001
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.643C>T (p.Arg215Ter)CPPathogenic3148927136148927136GAcriteria provided, single submitterClinGen:CA344574
single nucleotide variantNM_000096.4(CP):c.2701C>T (p.Arg901Ter)CPPathogenic3148896379148896379GAcriteria provided, multiple submitters, no conflictsClinGen:CA344578
single nucleotide variantNM_000096.4(CP):c.848G>C (p.Trp283Ser)CPLikely pathogenic3148925338148925338CGcriteria provided, single submitterClinGen:CA344580
DeletionNM_000096.4(CP):c.2066del (p.Pro689fs)CPPathogenic/Likely pathogenic3148904318148904318AGAcriteria provided, multiple submitters, no conflictsClinGen:CA344601
single nucleotide variantNM_000096.4(CP):c.147-2A>GCPPathogenic3148930487148930487TCcriteria provided, single submitterClinGen:CA16042423
single nucleotide variantNM_000096.4(CP):c.928C>G (p.Arg310Gly)CPLikely pathogenic3148925258148925258GCcriteria provided, single submitterClinGen:CA16042482
single nucleotide variantNM_000096.4(CP):c.1948G>A (p.Gly650Arg)CPPathogenic/Likely pathogenic3148904436148904436CTcriteria provided, multiple submitters, no conflictsClinGen:CA2660874
single nucleotide variantNM_000096.4(CP):c.1679G>T (p.Cys560Phe)CPLikely pathogenic3148916188148916188CAcriteria provided, single submitterClinGen:CA16621520