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_000321.3(RB1):c.2106+2T>ARB1Pathogenic134903397149033971TAcriteria provided, single submitter-
DeletionNC_000013.11:g.(?_48376908)_(48380094_?)delRB1Pathogenic134895104448954230nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_48360007)_(48368614_?)delRB1Pathogenic134893414348942750nanacriteria provided, single submitter-
DeletionNC_000013.11:g.(?_48303903)_(48307416_?)delRB1Pathogenic134887803948881552nanacriteria provided, single submitter-
InsertionNM_000321.3(RB1):c.1960_1960+1insCRB1Pathogenic134903048549030486GGCcriteria provided, single submitter-
single nucleotide variantNM_000321.3(RB1):c.1389+1G>CRB1Pathogenic134895378748953787GCcriteria provided, single submitter-
DeletionNC_000013.11:g.(?_48345070)_(48345209_?)delRB1Pathogenic134891920648919345nanacriteria provided, single submitter-
DeletionNM_000321.3(RB1):c.2490-1_2490delRB1Pathogenic134904749449047495CAGCcriteria provided, single submitter-
DeletionNC_000013.11:g.(?_48307270)_(48349033_?)delRB1Pathogenic134888140648923169nanacriteria provided, single submitter-
DuplicationNM_000321.3(RB1):c.2473dup (p.Met825fs)RB1Pathogenic134903948349039484CCAcriteria provided, single submitter-