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)
deletionNM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs)PKD1Likely pathogenic1621421462142165CCGAGCACGTGTGGACCCTGGCcriteria provided, single submitter-
deletionNM_001009944.3(PKD1):c.10441del (p.Val3481fs)PKD1Pathogenic/Likely pathogenic1621472072147207ACAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)PKD1Likely pathogenic1621565962156596ATcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)PKD1Pathogenic1621643222164322CTcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.916C>T (p.Arg306Ter)PKD2Pathogenic48895947588959475CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.973C>T (p.Arg325Ter)PKD2Pathogenic48895953288959532CTcriteria provided, multiple submitters, no conflicts-
duplicationNM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)PKD1Pathogenic1621404162140417AATAACcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)PKD1Pathogenic/Likely pathogenic1621472282147228GAcriteria provided, multiple submitters, no conflicts-
duplicationNM_001009944.3(PKD1):c.8898_8911dup (p.Ala2971fs)PKD1Pathogenic1621528512152852GGCACCCTGGAGTGACcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)PKD1Pathogenic1621582552158255GAcriteria provided, single submitter-