Knowledge base for genomic medicine in Japanese
多発性内分泌腫瘍症1型、2A・2B型/甲状腺髄様がん
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_020975.6(RET):c.1879+1G>ARETPathogenic/Likely pathogenic104360912443609124GAcriteria provided, multiple submitters, no conflicts-
DeletionNC_000010.11:g.(?_43100449)_(43102639_?)delRETLikely pathogenic104359589743598087nanacriteria provided, single submitter-
single nucleotide variantNM_020975.6(RET):c.1783G>T (p.Glu595Ter)RETPathogenic104360902743609027GTcriteria provided, single submitter-
single nucleotide variantNM_020975.6(RET):c.268G>T (p.Glu90Ter)RETPathogenic104359610143596101GTcriteria provided, single submitter-
DuplicationNM_020975.6(RET):c.2865dup (p.Pro956fs)RETPathogenic104361918043619181AATcriteria provided, single submitter-
DuplicationNM_020975.6(RET):c.1425dup (p.Pro476fs)RETPathogenic104360681443606815CCGcriteria provided, single submitterClinGen:CA658797415
single nucleotide variantNM_020975.6(RET):c.3288T>G (p.Tyr1096Ter)RETLikely pathogenic104362366043623660TGcriteria provided, single submitterClinGen:CA376559149
single nucleotide variantNM_020975.6(RET):c.2689C>T (p.Arg897Ter)RETPathogenic104361561043615610CTcriteria provided, multiple submitters, no conflictsClinGen:CA16612889
single nucleotide variantNM_020975.6(RET):c.2418C>G (p.Tyr806Ter)RETPathogenic104361500443615004CGcriteria provided, single submitterClinGen:CA10606962
DuplicationNM_020975.6(RET):c.890dup (p.Val298fs)RETPathogenic104360184543601846CCGcriteria provided, single submitterClinGen:CA10603140