Knowledge base for genomic medicine in Japanese
遺伝性褐色細胞腫・パラガングリオーマ
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000551.4(VHL):c.164_171dup (p.Arg60fs)VHLPathogenic31018369210183693TTGGAGGCCGcriteria provided, multiple submitters, no conflictsClinGen:CA10602889
DeletionNM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)SDHAPathogenic5233686233686ACAcriteria provided, multiple submitters, no conflictsClinGen:CA10602959
DuplicationNM_020975.6(RET):c.890dup (p.Val298fs)RETPathogenic104360184543601846CCGcriteria provided, single submitterClinGen:CA10603140
DuplicationNM_003002.4(SDHD):c.53dup (p.Leu19fs)SDHDPathogenic11111958580111958581GGCcriteria provided, multiple submitters, no conflictsClinGen:CA10603234
single nucleotide variantNM_000551.4(VHL):c.394C>T (p.Gln132Ter)VHLPathogenic31018825110188251CTcriteria provided, multiple submitters, no conflictsClinGen:CA10606205
single nucleotide variantNM_020975.6(RET):c.2418C>G (p.Tyr806Ter)RETPathogenic104361500443615004CGcriteria provided, single submitterClinGen:CA10606962
single nucleotide variantNM_004168.4(SDHA):c.1A>T (p.Met1Leu)SDHAPathogenic/Likely pathogenic5218471218471ATcriteria provided, multiple submitters, no conflictsClinGen:CA16042099
single nucleotide variantNM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)SDHAPathogenic/Likely pathogenic5240574240574CTcriteria provided, multiple submitters, no conflictsClinGen:CA3173269
single nucleotide variantNM_003001.5(SDHC):c.179+1G>CSDHCLikely pathogenic1161298288161298288GCcriteria provided, multiple submitters, no conflictsClinGen:CA16042288
DeletionNC_000003.12:g.10133799_10141895delVHLPathogenic31017548310183579CATGTGATCCAACAATCTCACTTCTGGGTATATATACATAGGAAATGAAAATCAGTATTTTGAAGAGATATCTGCACTCCCATGTTCATTGCAGCACTATTCACAATAGCCACACTATGGAATCAAGTGTCCATTGCCAGACGAATGGATAAAGAAAATGTGCGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACATTGGGAGGCCAAGACGGGCAGATCACTTGAGATCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAATCCCAGTTACTCTGGAGGCTGAGGCAGGAGAATCGCCTAAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAATCAATTAATCGATCAATAAAATACGTTGAACTCACAAAAGCAGGCAGTACAATGGTGGTTGCCAGGGCCAGGGGAGTTGAGATGAAACAGGGAGATATTGGTCAAAGGGTACGAGTCACCCTTTTGGTTGGGAGGAATATATTCTGGACATCTGTTATACAGCATGATGACTATAGTTAATAAATAATGTATATTTGAAAATTGTTAAGAGTGTAGTTTTTTTTTTTTTTCTAAGACGGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTGACAGAGCAGGAGCACTGTCATCTTGGACAAACACCACCACTTTAAGTTCCAGCTCCCTTTCTAGCCTCATACATTTCAAGGAAATCACTTCTCTTCTAACCACAAGCAGCCAGAAAGAGCAGACAGTAAAACACAGATAAGACAGCTTGGGCACAGAGGGAAGTAGGGGGAAAGTCTACTTTCCCCCTACTTGGGTAACTGGGTAACTGCCAAACTTCACCCTCATACAATGTGCCCCAGTAAAACAGTGGGCCTTAATAGGCACATTTCTTTCCCTCAGGTGCACTAAGATAGGGAAGCTAAAAGCAGACTCAGGGGACATGCCTGCAGCTGCAGAAAGATGTACGGGAACAGACAACTCTCCCGCCCAGGTAAGCACAACGAAGAGACACAGAAGCAGTCGAAGCCTCTGATAAACTCTCCCACCCTGAATCCTTAAAAACTCTGTAAGATTGTGCAGCTTCTGACCTAACTTGGTCAGAAATCCCTCCCAGGTTTGAAATAAACCTGTTGACTGTCAACCCACCCTTCATGTTTCTCTCCTTTAATTCTGACACTGGGTTCAAGCGATTCTCCTGCCTCAGCCCCCCGCGTAGCTGGGACTACAAGCACCCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTCGAACTCCAGACCTCAGATGATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCGTGCCCAGCCAAAAGAGTAGATCTTAAATGTTCTCACCACAAAAAAACTGAAGTAATAAATACATTAGCTTTATTTTTTAAATTTTTAATTATTTTACAAAATAGAGATAGGGTCTCACTGTGTTGCCCAGGCTGGTCCTGAACTCTGGGCTCAAGCAATCCTCCCACCTGGGTCTCCCAAAGTGCTGGGATTAACAGACGTGAGCCACTGCACTTGGCCAGCTTGATTATTTTTTAATGGCAAACAAGCTCATGAAAAGATGCTCAACATTGTTAGTCACTAGAGAAGTGTGTCCAGAATTGGTGGGTTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCAGACCCTTGCGGTGAGTGTTACAGTTCTCAAAGGTGGCGTGTCCAGAGTTTGTTCCTTCTGATGTTCGGATGTGTTCAGAGTTTGTTCCTTCTGGTGGCTGCGTGGTCTTGCTGGCTCAGGAGTGAAGCTGCAGACCACCGCGAGTATTACAGCTTTTAAAGCACTGCATCTAGAGTTTTTGGTTCCTCCAAGTGGGTTCGTGGTCTTGCTGGCTTCAGCAGACCTTCACGGTGAGCGTTACAGCTCACAAAGGCAATGCGGACCCAAAGAGTAAGCAATAACAATATTTACCGCAACGACTAAAAGAACAAACCTCTCACGACATACAAATGGACCCAACCGGGTTGCCACTGCTAGCTCTGGCAGCCTGCTTTTATTCTCTTACCTGGCCCCACCCACATCCTGCTGATTGGTCCATTTTACAGAGAGCCCATTGGTCCATTTTACAGAGAGCTGATTGGTCCGTTTTGACAGGGTGCTGATTGGTGTGTTTACAATCCCTGAGCTAAACACAAAGGTTCTCCAAGTCCCCACCAGAGTAGCTAGATACAGAGTGTCGATTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAATTGGTGTATTTACAATCCCTTACCTAGACATAAAGGTTCTCCAAGTCCCCACCAGACTTAGGAGCCCAGCTGGCTTCACCCAGTGGATCCTGCACCGGGGCGCAGGTGGAGCTGCCTGCCAGTCCCGCACCCTGCACCTGCACTCCTCAGCCCTCAGGTGGTTGATGGGACTGGGCGCAGTGGAGCAGGGGGTGGCGCTCGTCGGGGAGGCTCGGGTGGCACAGGAGCCCACGGAAGAGGGGGGAGGCTCAGGCATGGCGGGCTGCAGCTCCTGGGCCCTGCCCGGCTGGGAGGCAGCTAAGGCCCTGCGAGAAATTGAGCACAGCAGCTGCTGGCCCAGGTGATAAGCCCCTCACTGCCCTGGGCTTGCAGGCCGGCTGAGCCCACGCCCACCCGGAACTTGTGCTAGCCCACAAGCGCCACGGCAGCCCCGGTTCCCGCCCGCACCTCTCCCTCCACACCTCCCTGCAAGCTGAGGGAGCCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCCGCATGCTGGACAGCTCCTCAAGCGTGGCCAGAGTGGTGGCCAAGGCCAAGGAGGTGCCGAGAGTGAGCGAGGGCCGCGAGGGCTGCCAGCACATTGTCACCTCTCAGAAGTACAAATTAAACGTCAATAAGATACCACTATACATCAATTAGAATGGCTAAAATTTTTTTATTTTTAAAGAACAAAACCCCAGGCCAGGCGCGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAGATACGAAAAGTTAGCTGGGCGTGGTGGCGGGCGCCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGACATGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGTACTCCAGCCTGGGCGGCAGAGCGAGACTGTCTCAAAAAAAAAAAAAAGAACAAAACCTCAAATCTGATAATACCAACTGTAGACAAGAATGTGGAGCAACTGGAACAGTCATACATTGCTGGTGAGAATGCAAAATGATACAACTGCTCTGGGGAAACAGGTTAGCAATTTCTCATGAAGTTAAACATGTACTTTGTGTTTGACCTAGCAATCTCCTAGGTGATTCTCACCCAAGAGAAACAAAACTTATGTTTGCAAGAAACCTGTACACTAATGTATATAGCAACTTTATAATTGCTAAAAACTGGAAACAAACCAATATCTTGCAGTTGGTAAGTAGATAGTATGGAATACCCTTGGCAATAAAAATGAGTAAGTTATTATATACTACAACTTGGATGAATCTCAAATGCATTATGCTAAGTGAAAAAAAGCCAAACTCATAAGGCTACATATGATACGATTTTGTTGTGTGACATTCTGGAAAGGCAAAACTATAGGGACACAAGACAGACAGACCAGTGCTTGCCAGGGATTAACAGTGGAAGCAGGGTTTGACCATGAAGGAGTTTTGGGGGTGACAAGATACTCTGGTTTTTTTTTTTTTCTTGAGACAGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAAAAACTGGAAACGAAGTAAATATGGCAACATGCTAATTACATGTGACATTATCAGTATTTGCTTTATTATTGTACTTGTATATTTTAATTGGTCGACATACAAACAAGGCAAAATATATCCCCCTTAGAGAAAATTTGGAAAAGACAGAAAAGGAGATAGAACAAGTCACCAGTTGTCTTTATTTATTTATTGAAACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTCCGGTGGCGCCATCTCCGCTTACTGCAAGCTCTGCCTCTCGGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTGTTTTTGTATTTTTAGTGGAGACAGGGTTTCACTGGGTTAGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACTTGCTTTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACCGGTTGTCTTTAGACATTGTATTTTTTATTCTTTTCTACATGTCTTTTTGCCTAATGAAAAGTGTACTGTAAGAAAAATTTTGCCTGTGTATTCTAAACTTGTTTCCTTTGCAACTTTTTCTTTTCTTTTTTCTTTTTTGAGACAGAGTCTCGCTCTGTTACCCAGGCTAAAGTGCAGTGTCGCGATCACAGTTCACTGCAGCCTTGACCTTCCTGAGCTCAGGTGATCCTCCAGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCACCCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACAGGATTTCATCATGTCGCCCAGCCTAGTGTCGAGCTCCTCAGCTCAAGTTATCCGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCACAAGCCACCGTGCTTGGCCACCCCTTCCTCTTAAATGATCTTTGAAACATTATTTGCAGTCTCAAAGCCTGCATTTATCTAAACAACTGGTTTCATTTTAGGGATGTAGGCATTTCTGTAATATTAAACTGTTATATTTCACCTCGCTAGCATGGGAGTACAACTGAGGGGATGTTTGCATGAATCTTGTGAATTATGATGGCTCTAAGCCATTGTAATTTGATTAACAGAAGTCCTACTTTGGGGTTTATCTTATTTTTATTATTTATTTATTTTTTGAGTGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCTATCTGGGCTCACTGCAACCTCTGCCTCTGGGGTTTAAGTGATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGCGCAGGCCACCATGCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTCGGCCAGGCTGGTCACAAACTCCTGACCTCAAGTGATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTCTGGCCTACTTTGGGATTTTTCTCTACAGTGTTTTCATGTTGTTAATGTAGCTGGGGGTCCAGCATCACTGCTGGTCACTTAATCCTGCTGGAGGCCACCAGGATACACCATCTCTGTGCAGTGAGCTGTCAAGGAGAGCCCTAGGCAAAATTACTTAGGTTCATGGTGTCAGTGCTTTTGTGGAGATATCCAACTCCTGAGGTTCACTCATACTGTCATTTTCTCCTAAGGCATCAGGTGATGAGCCTCTCTGATCCAGCATTTTGACTACCCTTTTCACATTTTTTTTTTTTTCTGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCACGGCTTACTGCAGCCTCAACCTCCCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACTATGCCTGGCTAATTCTTTCATTTTTTATAGAGACAGGACCTCGCTATGTTGCCCAGGCTGGTTCCAACTCCTGAACTCAAGTGATCCACCTGCCTTGGGCTCCCAAAATCTCGGGATTACAGGCGTATAGTGCTAGGCCTTCACATTCTTATATACCCTTCTGTTTCCTTAGCTGTGAAATGGAGATAATGACATAGCCTTAATTCACGTGGGATGCTTAGCACAGTGTCTGGCACTTGATAGATTTTTTTCTTTCTACTTGAAATTTATTTTTGAGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTGGGAAAACCAAGGCAGGCAGATTACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCAAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAATTACCTGGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCACGATAATCACTTGAACTCGGCAGATGGAGGTTGCAGTGAGCTGAGACTGAGCCACTGCACTCCAGCCTGGGTGATAAAGCGAGACTGTCTAAAAAAAAATTATTTTTAACTAATATAAAACTCTCTGAACCCTTCTTTTTCTGAGCTGCTTCTCCACTTGAGTCCATCCCACATCATTGAACATTTAATTACACAGAATTGTGTACCATCTTCCTTGACCCCCAGATCTTTAGCCTTCTATAGTACCCTGTCTCTTTTTGTCGTACTAGTCACAGTTGCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCATTCTGTCACCCAGGCTGCAGTGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACATGCGCGCACCACCACGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGTCAGGCTGGTCTAGAACTCCTGACCTTGTGATCAGCCCACTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCGGCCATAGTTGCTATTTTATTTGTGTGATTGATTACCGTATGACGCTTTTATTGAAGTGCAGTGAAGGCAGGAAACATGACCGGTTTTTACAATATTTTCAACACTTATCACCATAGGTGGTACATAGTAGGGCCTTAATAAATATTTGTAAAATGAACAAAGTTAATGAGTGTTTATGTTTGTAGTTTTAATTGCTCTGAAGTAAATATCTGATTTTCCAATTTCCACCAGAGTGCTCTGCACATAGTAGGTCTAATTATTTTTCCCTCTTTACTAATCACCCATGCCTTGTAAGAATTCAGTTAGTTGACTTTTTGTACTTTATAAGCGTGATGATTGGGTGTTCCCGTGTGAGATGCGCCACCCTCGAACCTTGTTACGACGTCGGCACATTGCGCGTCTGACATGAAGAAAAAAAAAATTCAGTTAGTCCACCAGGCACAGTGGCTAAGGCCTGTAATCCCTGCACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAACCCAGGAGTTCGAGACCAGCCTAGGCAACATAGCGAGACTCCGTTTCAAACAACAAATAAAAATAATTAGTCGGGCATGGTGGTGCGCGCCTACAGTACCAACTACTCGGGAGGCTGAGGCGAGACGATCGCTTGAGCCAGGGAGGTCAAGGCTGCAGTGAGCCAAGCTCGCGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAACACCAAACCTTAGAGGGGCGAAAAAAAATTTTATAGTGGAAATACAGTAACGAGTTGGCCTAGCCTCGCCTCCGTTACAACGGCCTACGGTGCTGGAGGATCCTTCTGCGCACGCGCACAGCCTCCGGCCGGCTATTTCCGCGAGCGCGTTCCATCCTCTACCGAGCGCGCGCGAAGACTACGGAGGTCGACTCGGGAGCGCGCACGCAGCTCCGCCCCGCGTCCGACCCGCGGATCCCGCGGCGTCCGGCCCGGGTGGTCTGGATCGCGGAGGGAATGCCCCGGAGGGCGGAGAACTGGGACGAGGCCGAGGTAGGCGCGGAGCcriteria provided, single submitterClinGen:CA16043394