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.1906C>A (p.Gln636Lys)PKD2Likely pathogenic48897914288979142CAcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.709+1G>APKD2Pathogenic48894072488940724GAcriteria provided, single submitterHGMD:CS971871
single nucleotide variantNM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)PKD1Pathogenic1621399582139958GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601313.0004
single nucleotide variantNM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)PKD1Pathogenic/Likely pathogenic1621644902164490AGcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601313.0012,UniProtKB (protein):P98161#VAR_010086
single nucleotide variantNM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)PKD2Pathogenic48898663188986631CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:173910.0002
single nucleotide variantNM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)PKD2Pathogenic48896786488967864CTcriteria provided, single submitterOMIM Allelic Variant:173910.0005
deletionNM_001009944.3(PKD1):c.11554del (p.Leu3852fs)PKD1Pathogenic1621415822141582AGAcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)PKD1Pathogenic/Likely pathogenic1621499562149956GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)PKD1Likely pathogenic1621562492156249GAcriteria provided, multiple submitters, no conflicts-
short repeatNM_001009944.3(PKD1):c.9561_9563CAA[1] (p.Asn3188del)PKD1Pathogenic1621503992150401TTTGTcriteria provided, single submitter-