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.11524T>C (p.Trp3842Arg)PKD1Pathogenic/Likely pathogenic1621417952141795AGcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)PKD1Likely pathogenic1621523982152398ATcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)PKD1Pathogenic/Likely pathogenic1621537472153747CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter)PKD1Pathogenic1621600822160082GAcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)PKD1Likely pathogenic1621603222160322CAcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)PKD1Pathogenic1621616482161648GAcriteria provided, single submitter-
duplicationNM_001009944.3(PKD1):c.2079dup (p.Pro694fs)PKD1Pathogenic1621653962165397GGCcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.10387A>T (p.Lys3463Ter)PKD1Pathogenic1621473382147338TAcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)PKD1Pathogenic/Likely pathogenic1621436032143603GAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.5884C>T (p.Gln1962Ter)PKD1Pathogenic1621592842159284GAcriteria provided, single submitter-