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)
DuplicationNM_000321.3(RB1):c.2172dup (p.Val725fs)RB1Pathogenic134903793049037931AATcriteria provided, single submitter-
single nucleotide variantNM_000321.3(RB1):c.2164A>T (p.Lys722Ter)RB1Pathogenic134903792449037924ATcriteria provided, single submitterClinGen:CA026424
IndelNM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs)RB1Pathogenic134903792049037927ATTCAAAACcriteria provided, single submitter-
single nucleotide variantNM_000321.3(RB1):c.2134T>C (p.Cys712Arg)RB1Pathogenic/Likely pathogenic134903789449037894TCcriteria provided, multiple submitters, no conflictsClinGen:CA026423,UniProtKB:P06400#VAR_005587,OMIM:614041.0024
DuplicationNM_000321.3(RB1):c.2131dup (p.Ile711fs)RB1Pathogenic134903789049037891CCAcriteria provided, single submitter-
DeletionNM_000321.3(RB1):c.2128_2132del (p.Gly710fs)RB1Pathogenic134903788649037890TATGGCTcriteria provided, single submitterClinGen:CA645369527
single nucleotide variantNM_000321.3(RB1):c.2107-1G>ARB1Likely pathogenic134903786649037866GAcriteria provided, single submitterClinGen:CA388166993
single nucleotide variantNM_000321.3(RB1):c.2107-2A>GRB1Pathogenic134903786549037865AGcriteria provided, single submitterOMIM:614041.0009
single nucleotide variantNM_000321.3(RB1):c.2106+2T>ARB1Pathogenic134903397149033971TAcriteria provided, single submitter-
single nucleotide variantNM_000321.3(RB1):c.2105A>G (p.Gln702Arg)RB1Pathogenic134903396849033968AGcriteria provided, single submitterClinGen:CA388166979