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)
single nucleotide variantNM_000321.2(RB1):c.1399C>T (p.Arg467Ter)RB1Pathogenic134895419848954198CTcriteria provided, multiple submitters, no conflictsHGMD:CM951106
duplicationNM_000321.2(RB1):c.1585dup (p.Tyr529fs)RB1Pathogenic134895546448955465AATcriteria provided, single submitterHGMD:CI086238
indelNM_000321.2(RB1):c.2067_2079delinsCAC (p.Gln689fs)RB1Pathogenic134903393049033942GAATGAGTATGAACACcriteria provided, single submitter-
single nucleotide variantNM_000321.2(RB1):c.1735C>T (p.Arg579Ter)RB1Pathogenic134902716849027168CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000321.2(RB1):c.1960+5G>ARB1Likely pathogenic134903049049030490GAcriteria provided, single submitter-
single nucleotide variantNM_000321.2(RB1):c.2164A>T (p.Lys722Ter)RB1Pathogenic134903792449037924ATcriteria provided, single submitter-
single nucleotide variantNM_000321.2(RB1):c.2520+1G>ARB1Pathogenic134904752749047527GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000321.2(RB1):c.409G>T (p.Glu137Ter)RB1Pathogenic134891924448919244GTcriteria provided, single submitter-
single nucleotide variantNM_000321.2(RB1):c.103C>T (p.Gln35Ter)RB1Pathogenic134887815148878151CTcriteria provided, single submitter-
single nucleotide variantNM_000321.2(RB1):c.763C>T (p.Arg255Ter)RB1Pathogenic134893699548936995CTcriteria provided, multiple submitters, no conflictsHGMD:CM951104