Knowledge base for genomic medicine in Japanese
フォン・ヒッペル・リンドウ病
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)
DeletionNC_000003.12:g.(?_10146504)_(10149975_?)delVHLPathogenic31018818810191659nanacriteria provided, single submitter-
DeletionNC_000003.12:g.(?_10141838)_(10149975_?)delVHLPathogenic31018352210191659nanacriteria provided, single submitter-
DeletionNM_000551.4(VHL):c.339_340+5delVHLPathogenic31018386810183874CCGAGGTACcriteria provided, single submitter-
DeletionNC_000003.12:g.(?_10146504)_(10146646_?)delVHLPathogenic31018818810188330nanacriteria provided, single submitter-
DeletionNC_000003.12:g.(?_10141838)_(10142197_?)delVHLPathogenic31018352210183881nanacriteria provided, single submitter-
DeletionNC_000003.12:g.(?_10149777)_(10149975_?)delVHLPathogenic31019146110191659nanacriteria provided, single submitter-
DeletionNC_000003.12:g.(?_10052377)_(10149975_?)delVHLPathogenic31009406110191659nanacriteria provided, single submitter-
single nucleotide variantNM_000551.4(VHL):c.461C>T (p.Pro154Leu)VHLPathogenic31018831810188318CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000551.4(VHL):c.344A>G (p.His115Arg)VHLPathogenic/Likely pathogenic31018820110188201AGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del)VHLPathogenic31018382210183833CCTACCCAACGCTCcriteria provided, single submitter-