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_000297.4(PKD2):c.1320-2delPKD2Pathogenic48896779288967792CACcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)PKD2Likely pathogenic48899604188996041TCcriteria provided, single submitter-
duplicationNM_000297.4(PKD2):c.2568dup (p.Val857fs)PKD2Likely pathogenic48899600888996009TTAcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.2305G>T (p.Glu769Ter)PKD2Likely pathogenic48898697888986978GTcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.2197G>T (p.Gly733Ter)PKD2Likely pathogenic48898660488986604GTcriteria provided, single submitter-
duplicationNM_000297.4(PKD2):c.1668dup (p.Gln557fs)PKD2Likely pathogenic48897326188973262TTAcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)PKD2Likely pathogenic48896782388967823GAcriteria provided, single submitter-
indelNM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs)PKD2Likely pathogenic48896448388964483CAAcriteria provided, single submitter-
single nucleotide variantNM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)PKD2Pathogenic48895964088959640CTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000297.4(PKD2):c.992G>C (p.Cys331Ser)PKD2Likely pathogenic48895955188959551GCcriteria provided, single submitter-