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)
short repeatNM_001009944.3(PKD1):c.6565_6566GT[3] (p.Tyr2190fs)PKD1Pathogenic1621585992158600TTACcriteria provided, single submitter-
deletionNM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs)PKD1Pathogenic1621533002153304AGCCCGAcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_001009944.3(PKD1):c.1202-9G>APKD1Likely pathogenic1621676822167682CTcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.8016+2T>CPKD1Likely pathogenic1621553212155321AGcriteria provided, single submitter-
deletionNM_001009944.3(PKD1):c.10821+1delPKD1Likely pathogenic1621438112143811ACAcriteria provided, single submitter-
duplicationNM_001009944.3(PKD1):c.11412-2dupPKD1Likely pathogenic1621419082141909CCTcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)PKD1Likely pathogenic1621687942168794GAcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.1097C>A (p.Ser366Ter)PKD1Likely pathogenic1621678962167896GTcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)PKD1Likely pathogenic1621675802167580GAcriteria provided, single submitter-
single nucleotide variantNM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter)PKD1Likely pathogenic1621654642165464GCcriteria provided, single submitter-