Knowledge base for genomic medicine in Japanese
フォン・ヒッペル・リンドウ病
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000551.3(VHL):c.233A>G (p.Asn78Ser)VHLPathogenic31018376410183764AGcriteria provided, multiple submitters, no conflictsHGMD:CM951272,UniProtKB (protein):P40337#VAR_005683
single nucleotide variantNM_000551.3(VHL):c.256C>G (p.Pro86Ala)VHLPathogenic/Likely pathogenic31018378710183787CGcriteria provided, multiple submitters, no conflictsHGMD:CM951276,UniProtKB (protein):P40337#VAR_005693
insertionNM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168fs)VHLPathogenic31019150810191509GGTTGTCCGTcriteria provided, multiple submitters, no conflictsHGMD:CI951987
single nucleotide variantNM_000551.3(VHL):c.445G>T (p.Ala149Ser)VHLPathogenic31018830210188302GTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000551.3(VHL):c.548C>A (p.Ser183Ter)VHLPathogenic31019155510191555CAcriteria provided, single submitterOMIM Allelic Variant:608537.0002
single nucleotide variantNM_000551.4(VHL):c.481C>T (p.Arg161Ter)VHLPathogenic31019148810191488CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608537.0006
single nucleotide variantNM_000551.3(VHL):c.499C>T (p.Arg167Trp)VHLPathogenic31019150610191506CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608537.0003,OMIM Allelic Variant:608537.0010,OMIM Allelic Variant:608537.0011,UniProtKB (protein):P40337#VAR_005762
single nucleotide variantNM_000551.3(VHL):c.499C>G (p.Arg167Gly)VHLPathogenic/Likely pathogenic31019150610191506CGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608537.0004,UniProtKB (protein):P40337#VAR_005760
single nucleotide variantNM_000551.3(VHL):c.334T>C (p.Tyr112His)VHLPathogenic31018386510183865TCcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:608537.0012,UniProtKB (protein):P40337#VAR_005717
single nucleotide variantNM_000551.3(VHL):c.292T>C (p.Tyr98His)VHLPathogenic31018382310183823TCcriteria provided, multiple submitters, no conflictsHGMD:CM941370,OMIM Allelic Variant:608537.0009,UniProtKB (protein):P40337#VAR_005707