Knowledge base for genomic medicine in Japanese
バート・ホッグ・デュベ症候群
腫瘍性疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DeletionNM_144997.7(FLCN):c.792del (p.Cys265fs)FLCNPathogenic/Likely pathogenic171712493017124930ACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_144997.7(FLCN):c.1245C>A (p.Cys415Ter)FLCNPathogenic/Likely pathogenic171711974917119749GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_144997.7(FLCN):c.127G>T (p.Glu43Ter)FLCNPathogenic/Likely pathogenic171713132517131325CAcriteria provided, multiple submitters, no conflictsClinGen:CA398535274
single nucleotide variantNM_144997.7(FLCN):c.780-2A>GFLCNPathogenic/Likely pathogenic171712494417124944TCcriteria provided, multiple submitters, no conflictsClinGen:CA398533806
single nucleotide variantNM_144997.7(FLCN):c.1301-2A>GFLCNPathogenic/Likely pathogenic171711863217118632TCcriteria provided, multiple submitters, no conflictsClinGen:CA398531521
DeletionNM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)FLCNPathogenic/Likely pathogenic171711856817118574TCACACCCTcriteria provided, multiple submitters, no conflictsClinGen:CA498421326
DeletionNM_144997.7(FLCN):c.1584del (p.Glu530fs)FLCNPathogenic/Likely pathogenic171711712517117125TGTcriteria provided, multiple submitters, no conflictsClinGen:CA645369642
single nucleotide variantNM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)FLCNPathogenic/Likely pathogenic171711705217117052AGcriteria provided, multiple submitters, no conflictsClinGen:CA398529920
DeletionNM_144997.7(FLCN):c.1578_1599del (p.Ser526fs)FLCNPathogenic/Likely pathogenic171711711017117131TCTGTGTGTCCTCTTTGGGTCGATcriteria provided, multiple submitters, no conflictsClinGen:CA16043039
single nucleotide variantNM_144997.7(FLCN):c.1300+1G>AFLCNPathogenic/Likely pathogenic171711969317119693CTcriteria provided, multiple submitters, no conflictsClinGen:CA10586255