Knowledge base for genomic medicine in Japanese
皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys)NOTCH3Pathogenic191530331515303315CAcriteria provided, single submitterClinGen:CA340883,UniProtKB:Q9UM47#VAR_012872,OMIM:600276.0001
single nucleotide variantNM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)NOTCH3Pathogenic191530294515302945GAcriteria provided, multiple submitters, no conflictsClinGen:CA340884,UniProtKB:Q9UM47#VAR_012880,OMIM:600276.0002
single nucleotide variantNM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)NOTCH3Pathogenic191530290615302906GAcriteria provided, multiple submitters, no conflictsClinGen:CA340885,UniProtKB:Q9UM47#VAR_012883,OMIM:600276.0003
single nucleotide variantNM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg)NOTCH3Pathogenic/Likely pathogenic191529981515299815AGcriteria provided, multiple submitters, no conflictsClinGen:CA340888,UniProtKB:Q9UM47#VAR_044302,OMIM:600276.0006
single nucleotide variantNM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)NOTCH3Pathogenic191530227715302277GAcriteria provided, multiple submitters, no conflictsClinGen:CA340889,UniProtKB:Q9UM47#VAR_044289,OMIM:600276.0007
single nucleotide variantNM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)NOTCH3Pathogenic/Likely pathogenic191530305315303053GAcriteria provided, multiple submitters, no conflictsClinGen:CA340890,UniProtKB:Q9UM47#VAR_012876,OMIM:600276.0008
single nucleotide variantNM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)NOTCH3Pathogenic191530836215308362CAcriteria provided, single submitterClinGen:CA174091,UniProtKB:Q9UM47#VAR_044231
single nucleotide variantNM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)NOTCH3Pathogenic191527219215272192TAcriteria provided, single submitterClinGen:CA204353,OMIM:600276.0017
single nucleotide variantNM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)NOTCH3Pathogenic/Likely pathogenic191530299315302993GAcriteria provided, multiple submitters, no conflictsClinGen:CA346917,UniProtKB:Q9UM47#VAR_012879
single nucleotide variantNM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys)NOTCH3Pathogenic191530008915300089GCcriteria provided, multiple submitters, no conflictsClinGen:CA347693