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)
DeletionNM_001035511.2(SDHC):c.242-408_*4118delSDHCPathogenic1161331710161336447TTTTTTTTTTTTGGCCCATACAATGGCTTTCAACATTCTGAGAGCAAGTGTTTGGAAGAATACACCTTGAGAAACATTAATCTAGATGTGTGGTCCTGAGGAAAAGTTGTATCTATTCATTCTGGAAGCTTTTGTATACCGTATGGGGCCTGTGGCATTCTAGAGAACATTCCTCCTACCATCACCACACAATAGAACCTGATTTTCTGTCATTGGAATAAGTGGATAATAGGTTCCATACTGTGGGTTTTGAGAAGGGTAAAGGTGGGGCATAAGGGTAGAAGCGCTTTTCTCTAGAATCATGCTGAGAGGAGATATCTATTCCTTTAGGTAGAATTACTTTCTGAGACAGGAACTGTTAATGTCCTATTTACTGAAATTCCTTTTTTTTTTTTTTGCTTTGTCCACAGATGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAAGAAAGGAGGCTCCCAGCATCATCTTCCTACACATTATTACATTCACCCATCTTTCTGTTTGTCATTCTTATCTCCAGCCTGGGAAAAGTTCTCCTTATTTGTTTAGATCCTTTTGTATTTTCAGATCTCCTTGGAGCAGTAGAGTACCTGGTAGACCATAATAGTGGAAAAGGGTCTAGTTTTCCCCTTGTTTCTAAAGATGAGGTGGCTGCAAAAACTCCCCTTTTTTGCCCACAGCTTGCCTACTCTCGGCCTAGAAGCAGTTATTCTCTCTCCATATTGGGCTTTGATTTGTGCTGAGGGTCAGCTTTTGGCTCCTTCTTCCTGAGACAGTGGAAACAATGCCAGCTCTGTGGCTTCTGCCCTGGGGATGGGCCGGGTTGGGGGGTGGGTTGGTGAGGCTTTGGGTGCCACTGCCTGTGGGTTGCTGGCTTAAAGGACAATTCTCTTCATTGGTGAGAGCCCAGGCCATTAACACCTACACAGTGTTATTGAAAGAAGAGAGGTGGGGGTGGAGGGGAATTAGTCTGTCCCAGCTAGAGGGAGATAAAGAGGGCTAGTTAGTTCTTGGAGCAGCTGCTTTTGAGGAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAATTATCATTGAACATATTAATGGTTATTTCTTTTTCTTGGATTTCCAGAAAAGCCTCTTAATTTTATGCTTTCTCATCGAAGTAATGTACCCTTTTTTTCTGAAACTGAATTAAATACTCATTTTATCTTTGACTCTCCTTGAAATCTAGAGAAACCAAGAAAATGGCTGTTGGGAAGGAACCAATTTCCTCCTCTTCCCTCGGGTCTCAGGCATTTACATCCTCCCTCTCCCCGCAATCTGACCTTTACCAGGAGGGAAACAGTTCTCCTACATCTCATCATTGGAAAAGTTTTCAGGGAATCAGATAGAACTTAGCCAGAGATTTAAATATCACAGAAAAGCCTCAGAGAAGGAAGGAGAAAAAGAAAAGAAGTGACGCATGTAGAGTGCTTTTGGGTTATAGGCACCAAAATCCCATTAAGGACTGATTATAAGCTTCATGGTACAGTTCAGCAAATTATGATTCATTGAGGGGCACAGAGGACCAGTGTTGGTGACAGCTAGGGGATGATGACCTGAGGTTATAGGCTTGGGGTGAATGAAGCATAGAGTTTTTTTTTAAAAAAGAAGGGATTGTTGAAAACCTGGCAAAAATGTATAATTTAATGAGAAAACTTGCTGCTTTTAAAATCCATATAGGCCAGGCTTTAGCAGGCATGCTGTTTTGATAGTTTTTGGGAACTCTGGAATAAGAGACTTATCTCATCTGTCACTTCGAGTTGTTGGCCAGCCAGTTAAAGCTGTGGGTCGAAGAGGGGAAATGTTAACTGGCTGGTGTCAATTGGATAGGAAGACCTTAGTTAAGGTGGGGACCCGCTGTTTTAACAGTCTTCATTCAGGGTCCCAAATAGTATTTGGCTTTAAGTAATGATTGGTTTTCCCTTTTTACTAGAGGGGCCCTGGGAAGTCCTTGTACCTTTCCTCCATTTTAAACCAGCTGTTCTCTACTTTGTCCTTGGAATGAGGGACAAGTGATCATGACAGAACACTTTGTCATTGGGACTGGGAAAGGTTTGGCAAGGGCATTAAATTTAACAGCCAGTGCCAGGAAAATATAAAATGGGGTCAATGATAAACAGCTGTTAGAGGCTGGAAAATGGGTAGGGCAGTTGAATTTTTTGGTGGTTTCGTACCATTTGGGTGATTGAAGCATGGTAGTGGGTGGGTGGGGGGTGTGACAGAGCATCATGTTTGTTATTCTGCCTTAAATTTCTACTTACTGTCTTTTTCTTCTCTGTCTTCCAATCACTTTAATATCTTCAATTTTCAAACTATATTTGTACTTGGGCTTAGATAGAAAGTCTTACACAAGCATAGTATCTTCTACTTTGGTTTTCCCTACCTTTTCTTCCCCACCTTCTCCAAACACACATATACATACTCTACTCAATTCTATTTCTGATTTTGTAGTTGTTAGTTGTCCATGCTCAGGATAAAAAATGAGTGGGTAGGGTTGAGGGACTGGTTCTTTGAGGTTCTGCCCTTTTTCCATGATTCAGACCAACTTTCTCTTGGTCATTTCTGGAGTATAACTGACTCAATTCTTGTAAAAATGTGTTCCACCCAAACCACTGTATGTTCTTTTCCCTACTTTATTTTCTCCTACCTTCCTTCTCCTAATTGTGTTACAAGAGGCAGCCATAGCAAGAATGGAAAATCCAGATCAGTAAAAGATTCAACAAAAAAAAGTTTATTTTCCAAATTTGCTTTTACTCCCACCCCAAAATTTCCCTGTTTCACAGTTCTGACTGGGGGCTCTTGTTTATTTCACTGAGTCGCTATACGGGTTTTTCAGTGTGTGGCCACTTGGTCCATATGAAGTTCCAGGTTTGTATTTCTGGACCTCAGCTAGATTAGGCCCTGCCCAGAGTTCTAGCATACGTGGACTTCCAGGTGGGCTCTTAGGATTTGGCTGGTCTTTGGGGACCTGGAGTATGACCTGCAGAGGGGTGTGAGCTTTGGAGTTCATCTGGGGAATTGAGGTTGGCAGCTGGGGAGCTTGGAATTATGGTTGGACTTCGTGCTTGTTGTACAGTCTTTGTGATAGACTTCTTTCTGAGTTTCTTCTGACTGTCTGGATCATGGGGCTGTCAGTGATAAGAGTGGGAGAGATAGTCATGTCTCTGGTCAGGCCCGGATCATTCCTAATGCACCTCAGGATTCTAACTCCCTTTCTCCCCATACCATGGGCAGTAGATCAAGTTTCAAATAAGAAAAGTTAAATTTGATTTCTCTAACCACCCTCCCCCACCTTGAGATTAGATCATTTTCTACTGTTGGGGGTATGATGTCCTTAGCCCATCCCTTCAGGCCTCAGAAGGTGATTAAGGACTAGTCAAGATAAGACAAATTGGTTAGAGGTCCCCCATGCTGGGATAGTGGTGGCATAACAATAGACATTTTTTGAGGTTGAAAAGAAATTGAGACTACAGGGTTTTGGGTTAGATGGGAAGAATAGATACCTTGCCTAAGATTTCAGGACACAGCCCATTGGAGGCCTTGAGTAAATCAGGATTTTTCTGTATCCATTTGGTGAGGGAGGCAGCACCAGCAGTTGTACGGGAGGTCAGGGTCACCCGAGCAGGGGGTATCTTCAGAGGCATTTGCCAGGTGCCCATGAAGGAACCCCAAGGATTTGCCTAAAAATGAAAAGGGATTCCTCAGTAGGGCTTCTCACTCCCAGTAACTGACTTAGACCTCTGTATTATTTCCTTTCTTTACCTTTAGGAATGCATGGTTATGAAACAAGACTGAAAGCATAATCTTCCCACCCTTCCTTATCCCCCTCCCTCATTTAGGCTTTGCAGGCCTAATTTTTTCATCCCCTTTACTCTGCCAACTTAAATTCCACATCCTTAGGCCGAGTGTGGCAAAGGAGTACCCACTGCACAAATGTCATCACCTGAAGGCTTTCATTTATACAGATCATTGATCAATTTAAGAACTTCTGAAGGGTGCTAAACACAACTCTATCCTGCTGGGTAAGCTGGCCGGAAGTTCAGGGGCTCTCACATTACAACATGAATTAGATTAAACTTTAATTTTCCCGATAATGGCTGTGAGAGACTGCACATCTCCCAGTTCTGTGCCTTAATTATTTGACTTTCTTGATAGGAGTGAAGATAGTATCTCACCTTGGAACGGGGCACAGAAGGCAGTAGATGACCACGATCGTTGGCAATAATTTGAGTGTAGCCTTCATGAGAAGAGATGCTCTGGGGTACAAGTGGGAGAGATAAAGGTTTGTGAGGGGAAAAAGGGAAGTATTTGGGGAGCTTGGTCAGAGAAGGATATGGGAGTTTAGAGAATGCTAAAAGGAGTTAATTGACAGGGAGAGCATGAGGCTATCTTGTAGGTGCACTGAACATGGAATACCTCTTTTGTTGGCTTAGTGGGAGACCAGTTCTGCAGATACTTGGATGAGAAAGCCTTTTCATACTGTGGAGAGAAAGATAAGTAGCCCTATGAGACTTCAAGGCCCCAAACCCAGGAAATGAAGACTAGGCACAATTCTTTAGATTTGAAGACCAAAGGCCTGACCAACCATGTAGGCTTTAAGTCACTATGACAAGGGTGTAATTTGTTTGGTCTAGATcriteria provided, single submitter-
DeletionNC_000001.11:g.(?_161356667)_(161362443_?)delSDHCPathogenic1161326457161332233nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_161314400)_(161362439_?)delSDHCPathogenic1161284190161332229nanacriteria provided, single submitter-
DeletionNC_000001.11:g.(?_161356667)_(161356850_?)delSDHCPathogenic1161326457161326640nanacriteria provided, single submitter-
single nucleotide variantNM_003001.5(SDHC):c.405+1G>CSDHCPathogenic1161326631161326631GCcriteria provided, multiple submitters, no conflictsClinGen:CA343456782
single nucleotide variantNM_003001.5(SDHC):c.405+1G>ASDHCPathogenic1161326631161326631GAcriteria provided, single submitterClinGen:CA011395,OMIM:602413.0004
single nucleotide variantNM_003001.5(SDHC):c.405+1G>TSDHCPathogenic1161326631161326631GTcriteria provided, multiple submitters, no conflictsClinGen:CA011403,OMIM:602413.0002
DeletionNM_003001.5(SDHC):c.405+1delSDHCLikely pathogenic1161326630161326630TGTcriteria provided, single submitter-
DeletionNC_000001.11:g.(?_161356677)_(161356840_?)delSDHCPathogenic1161326467161326630nanacriteria provided, single submitter-
single nucleotide variantNM_003001.5(SDHC):c.397C>T (p.Arg133Ter)SDHCPathogenic1161326622161326622CTcriteria provided, multiple submitters, no conflictsClinGen:CA011426