Knowledge base for genomic medicine in Japanese
多発性嚢胞腎
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000297.4(PKD2):c.1094+1G>APKD2Pathogenic48895965488959654GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.1722+2T>CPKD1Pathogenic1621665282166528AGcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)PKD1Pathogenic1621441282144128CTcriteria provided, single submitter-
duplicationNM_001009944.3(PKD1):c.11251_11265dup (p.Gln3751_Gln3755dup)PKD1Likely pathogenic1621424842142485CCCTGCAGCCGCACCTGcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.1523G>T (p.Cys508Phe)PKD1Likely pathogenic1621669172166917CAcriteria provided, single submitter-
deletionNM_001009944.3(PKD1):c.8369del (p.Pro2790fs)PKD1Pathogenic1621536892153689CGCcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys)PKD1Likely pathogenic1621676162167616TCcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.145C>T (p.Gln49Ter)PKD2Pathogenic48892903088929030CTcriteria provided, single submitter-
indelNM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)PKD2Pathogenic48892924288929249CCCGGGCATAGGACGcriteria provided, single submitter-
short repeatNM_000297.4(PKD2):c.815_816CT[1] (p.Leu273fs)PKD2Pathogenic48895747788957478ACTAcriteria provided, single submitter-