Knowledge base for genomic medicine in Japanese
網膜芽細胞腫
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_000321.3(RB1):c.1419del (p.Phe473fs)RB1Pathogenic/Likely pathogenic134895421548954215ATAcriteria provided, multiple submitters, no conflictsClinGen:CA658683873
single nucleotide variantNM_000321.3(RB1):c.1390-2A>GRB1Pathogenic/Likely pathogenic134895418748954187AGcriteria provided, multiple submitters, no conflictsClinGen:CA388162661
single nucleotide variantNM_000321.3(RB1):c.2520+5G>ARB1Pathogenic/Likely pathogenic134904753149047531GAcriteria provided, multiple submitters, no conflictsClinGen:CA645369529
single nucleotide variantNM_000321.3(RB1):c.2325+1G>CRB1Pathogenic/Likely pathogenic134903924849039248GCcriteria provided, multiple submitters, no conflictsClinGen:CA388167738
single nucleotide variantNM_000321.3(RB1):c.2094G>C (p.Arg698Ser)RB1Pathogenic/Likely pathogenic134903395749033957GCcriteria provided, multiple submitters, no conflictsClinGen:CA388166951
single nucleotide variantNM_000321.3(RB1):c.1421+1G>CRB1Pathogenic/Likely pathogenic134895422148954221GCcriteria provided, multiple submitters, no conflictsClinGen:CA388162744
single nucleotide variantNM_000321.3(RB1):c.857A>G (p.Asp286Gly)RB1Pathogenic/Likely pathogenic134893708948937089AGcriteria provided, multiple submitters, no conflictsClinGen:CA388159708
DuplicationNM_000321.3(RB1):c.607+2dupRB1Pathogenic/Likely pathogenic134892316048923161GGTcriteria provided, multiple submitters, no conflictsClinGen:CA645369532
single nucleotide variantNM_000321.3(RB1):c.277C>T (p.Gln93Ter)RB1Pathogenic/Likely pathogenic134891674748916747CTcriteria provided, multiple submitters, no conflictsClinGen:CA388252335
DuplicationNM_000321.3(RB1):c.54_76dup (p.Pro26fs)RB1Pathogenic/Likely pathogenic134887809348878094TTGCCGCCGCGGAACCCCCGGCACCcriteria provided, multiple submitters, no conflictsClinGen:CA645369601