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_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter)PKD1Pathogenic/Likely pathogenic1621521612152161GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)PKD1Pathogenic/Likely pathogenic1621399492139949GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.2019+1G>APKD2Pathogenic/Likely pathogenic48897925688979256GAcriteria provided, multiple submitters, no conflicts-
deletionNM_000297.4(PKD2):c.2020-1_2020delPKD2Pathogenic/Likely pathogenic48898305688983057CAGCcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.1898+5G>APKD2Pathogenic/Likely pathogenic48897742488977424GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.964C>T (p.Arg322Trp)PKD2Pathogenic/Likely pathogenic48895952388959523CTcriteria provided, multiple submitters, no conflicts-
deletionNM_001009944.3(PKD1):c.8545del (p.Ala2849fs)PKD1Pathogenic/Likely pathogenic1621535132153513GCGcriteria provided, multiple submitters, no conflicts-
short repeatNM_001009944.3(PKD1):c.10698_10703GGCTGT[2] (p.3567_3568AV[2])PKD1Pathogenic/Likely pathogenic1621439182143923GACAGCCGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)PKD1Pathogenic/Likely pathogenic1621399282139928GAcriteria provided, multiple submitters, no conflicts-
deletionNM_000297.4(PKD2):c.1094+3_1094+6delPKD2Pathogenic/Likely pathogenic48895965488959657CGTAACcriteria provided, multiple submitters, no conflicts-