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)
single nucleotide variantNM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)FLCNPathogenic171712233517122335GAcriteria provided, single submitter-
single nucleotide variantNM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)FLCNPathogenic171712044217120442GAcriteria provided, multiple submitters, no conflicts-
deletionNM_144997.7(FLCN):c.1179del (p.Met394fs)FLCNPathogenic171711981517119815TGTcriteria provided, multiple submitters, no conflicts-
duplicationNM_144997.7(FLCN):c.1203dup (p.Ile402fs)FLCNPathogenic171711979017119791TTGcriteria provided, multiple submitters, no conflicts-
deletionNM_144997.7(FLCN):c.1305del (p.Phe435fs)FLCNPathogenic171711862617118626CACcriteria provided, multiple submitters, no conflictsHGMD:CD051744
single nucleotide variantNM_144997.7(FLCN):c.1433-2A>GFLCNPathogenic/Likely pathogenic171711840617118406TCcriteria provided, multiple submitters, no conflicts-
deletionNM_144997.7(FLCN):c.1522_1524del (p.Lys508del)FLCNPathogenic/Likely pathogenic171711831317118315CCTTCcriteria provided, multiple submitters, no conflictsHGMD:CD099889
single nucleotide variantNM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)FLCNPathogenic171711830417118304CTcriteria provided, multiple submitters, no conflictsHGMD:CM102441
single nucleotide variantNM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)FLCNPathogenic/Likely pathogenic171711711217117112GAcriteria provided, multiple submitters, no conflictsHGMD:CM100084
single nucleotide variantNM_144997.7(FLCN):c.250-2A>GFLCNPathogenic171712963817129638TCcriteria provided, multiple submitters, no conflictsHGMD:CS083924,OMIM Allelic Variant:607273.0014