Knowledge base for genomic medicine in Japanese
バート・ホッグ・デュベ症候群
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNC_000017.11:g.(?_17213645)_(17213866_?)delFLCNPathogenic171711695917117180nanacriteria provided, single submitter-
DeletionNC_000017.11:g.(?_17213645)_(17237188_?)delFLCNPathogenic171711695917140502nanacriteria provided, single submitter-
DeletionNM_144997.7(FLCN):c.1177-169_1538delFLCNPathogenic171711829917119986CTTCATCCACTCCTCCTTGAGGCAGACGAGGCACTGGTCCACCACATCCACAGACAGGTTCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGCTAGCCCACCGTGGGCCCCACTCCGCTCATCCCAGGTCAGTGGGGAAGGCTGCTGGTGAAAAGACTGGCCCAAATCAATGCTTTGGTATTTAAAACCTTTCAGGTTATTCGTGAATAGTTAAGGGTTAACTTTTGCCTCAGTTAAACTAATAATTTATTATATTACAATAATCACAAAGTACTTTATATACATCAATTTACCTCTGGCTAAGCAGCCCTATGAGGGTGGTCTCACCATGACCCTATTCTACAGATGGGGAAACAGGCCTGGAGACGTTAAATAACCTGCTCGTAGTGGTAAGAATTTGAAGTCTGTTTGAAACCAGAGCCTGTGTTTCCAATGCTACCCGGAAAAAAGGCACTGCCTCGCAGGGAGTCAGGACCCAGCCTGGGTGCTGATTGGGGGCTCAGGGTAGCTCCACTCGGACCATGAGTCAGCAGCTGCTGGTCACCGCTGTGCTGGGGGAAGTCACTGATGAGCCTGGGGGGCTGATCCCTGGACATCCCCAAACCAAAAGACCAGGGGTTTGCTGAGCCCTGACCACACCAGTGAAGGCCGGGAAGACCTCGGGCACATGAGGTGAAGAAAAAGGCTGGAGGAGAGCAGAAGTCAGGACAGGGGAACAGTAGAAGAGTGAGGAGAGGATGGCAGGGCCCACAGAAGCAGGCAGCTCACACCCAGCATTCAGCAGGCCTCCATCTCATAGGCACCCAATCACCAGGACGACCAGGATCCTCCGGCCAGGGACACATCCTCCCACCCCACGATGGTGACCTGCAGCCCACTGACGACAGTCCCTGCCAGCCAACCTTCCCATCAGGTCCACTCACCCACCGCTACCTGTGTGAAGATAGAACACGGAGGCCCAGAGCCATGGGGGAAGCTGGCCCTGCAATGAGGCCTCCTCTCCACAACCCATGACAGAGATCTGGTTCCACTTTGGGCCTGAGGCGTGGGGAACCTCAGCGCAGGGCATGGCCCCACAGCCCGCGGGGGCACGCACCTGAGGAGAGCACGTGGGGGGGGATCTGCACGTGCGGGCTGAGCCCCAGGAAGTTGCACCGATAGGCCTCCTCGTACTGGCTGCTGTATGGGATGATGCGGACGCAGCCCACGGGAAGCATGGTCTGAGGAGGACAGCAGGACTCAGACCAAGGACACGAGGAAGCCCTCAGCCCCGGCCATCCATGCTCTACTACCCAAACCCCACACGCCTCCTGCAGCCCGGTCCAAGCCCTCCCTCCTGCCAGAGGAGTCCCCAGACTCTCAGCCCACAGTGGGGGTGAGGGGGGAGGGCcriteria provided, single submitter-
DeletionNM_144997.7(FLCN):c.167del (p.Ser56fs)FLCNPathogenic171713128517131285ACAcriteria provided, single submitter-
DuplicationNM_144997.7(FLCN):c.237_240dup (p.Met81fs)FLCNPathogenic171713121117131212TTGTCCcriteria provided, multiple submitters, no conflicts-
DeletionNM_144997.7(FLCN):c.312del (p.Lys105fs)FLCNPathogenic171712957417129574TATcriteria provided, single submitter-
DeletionNM_144997.7(FLCN):c.563del (p.Phe188fs)FLCNPathogenic171712729117127291GAGcriteria provided, multiple submitters, no conflicts-
DeletionNM_144997.7(FLCN):c.889_890del (p.Glu297fs)FLCNPathogenic171712250517122506TTCTcriteria provided, multiple submitters, no conflicts-
DeletionNM_144997.7(FLCN):c.1326del (p.His442fs)FLCNPathogenic171711860517118605CGCcriteria provided, single submitter-
DeletionNM_144997.7(FLCN):c.1440del (p.Thr481fs)FLCNPathogenic171711839717118397TGTcriteria provided, single submitter-