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_000551.4(VHL):c.488T>C (p.Leu163Pro)VHLLikely pathogenic31019149510191495TCcriteria provided, multiple submitters, no conflictsClinGen:CA020423,UniProtKB:P40337#VAR_034998,OMIM:608537.0018
single nucleotide variantNM_000551.4(VHL):c.376G>T (p.Asp126Tyr)VHLLikely pathogenic31018823310188233GTcriteria provided, single submitterClinGen:CA020319,UniProtKB:P40337#VAR_034994,OMIM:608537.0022
single nucleotide variantNM_000551.4(VHL):c.388G>C (p.Val130Leu)VHLPathogenic31018824510188245GCcriteria provided, multiple submitters, no conflictsClinGen:CA020325,UniProtKB:P40337#VAR_005733,OMIM:608537.0021
single nucleotide variantNM_000551.4(VHL):c.334T>A (p.Tyr112Asn)VHLPathogenic31018386510183865TAcriteria provided, multiple submitters, no conflictsClinGen:CA020273,UniProtKB:P40337#VAR_034992,OMIM:608537.0017
single nucleotide variantNM_000551.4(VHL):c.191G>C (p.Arg64Pro)VHLPathogenic/Likely pathogenic31018372210183722GCcriteria provided, multiple submitters, no conflictsClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015
single nucleotide variantNM_000551.4(VHL):c.562C>G (p.Leu188Val)VHLPathogenic/Likely pathogenic31019156910191569CGcriteria provided, multiple submitters, no conflictsOMIM:608537.0014,ClinGen:CA020488,UniProtKB:P40337#VAR_005777
single nucleotide variantNM_000551.4(VHL):c.496G>T (p.Val166Phe)VHLPathogenic31019150310191503GTcriteria provided, multiple submitters, no conflictsClinGen:CA020436,UniProtKB:P40337#VAR_005759,OMIM:608537.0013
single nucleotide variantNM_000551.4(VHL):c.292T>C (p.Tyr98His)VHLPathogenic31018382310183823TCcriteria provided, multiple submitters, no conflictsClinGen:CA020246,UniProtKB:P40337#VAR_005707,OMIM:608537.0009
single nucleotide variantNM_000551.4(VHL):c.334T>C (p.Tyr112His)VHLPathogenic31018386510183865TCcriteria provided, multiple submitters, no conflictsClinGen:CA020277,UniProtKB:P40337#VAR_005717,OMIM:608537.0012
single nucleotide variantNM_000551.4(VHL):c.499C>G (p.Arg167Gly)VHLPathogenic31019150610191506CGcriteria provided, multiple submitters, no conflictsClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004