Knowledge base for genomic medicine in Japanese
多発性嚢胞腎
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)PKHD1Pathogenic65193831851938318CTcriteria provided, single submitter-
DeletionNC_000006.12:g.(?_51619071)_(51791383_?)delPKHD1Likely pathogenic65148386951656181nanacriteria provided, single submitter-
DeletionNC_000006.12:g.(?_51632545)_(51648138_?)delPKHD1Pathogenic65149734351512936nanacriteria provided, single submitter-
DeletionNM_138694.4(PKHD1):c.11174_11175-4798delPKHD1Likely pathogenic65151881651523750AGGTCTTTCTAATGGAAGAGATTTAATTCAAGATATTGGTTGCACAGGAGTTTTAGAATAGTAGAAAAGTAAAACAGGCTACCTTTCACTGTATGTGATATATTGAATGATAATTTATTGTGATTTACAATGTGCTTAGGCACACTTGAGAATATAATCATAAGTCGAAACCTTGACCACCTAATAAATTTTATAAAGATTAACATTTTATACTCAAGTTAATGTTACAAAAAACTGGATTAATGGCTAAGCAGCTTCATAGAGAATTAATGATTTATTTGTAATAGATACGGAATGAGATTTAGTATAACATCTTCTCATTAAATAGTTGAATAAATGTTGTTTTTCATATCCATTAATTTTCAAATCTCTAGATTCTTATAGGGACCATATGATATTTTGAACATAATAGCTGTTCGGTTAACACTGGGGAATAAAAAACATTGGCATGTAAGCTTTCAAGAGTCTATTATATTTACCTATGAGTTCACTATGTGTACAAATAATTCTTAAATTAATTGATTTTAAGTTAGTGTCGTCTGATTTTGGACTTAGAACTTTTCTGGATGTGGATATGTCAACAGCAACAATAGATTACAATTAGCATCCTTTTCATAGCAAAATAGCAAAAAAAAAAATACAATAGATTACAATTAGCATCCTTTTCACAGCAAAATAGCAGAAAAAATACAAACCGCAGGACAAGAACTAAAGATTTAGTGGTCTGGCACCATTCAGTATACGAAAAATAGTACCCAAGGGCATCACAGCAAAAACAGGATTGTGAAGTAAATGACAGATTTAATGATGACCATGAATCGTCATAACAAATGTGAACAGTCTACATTATTTCCCATTGAATAAGCCTGGGTATTATGCAATCTTTGTCTTTTTTTAACGATTAAGAGTTGAAGACTTTTTAAAATGCTTGTTATTAATGGAACAATTTTTAATTGTATGGAAAGCTTGCTTACGTAGAACATCTCACTTTCCCACAAAGCCACACATATGAAATAAGATTACAATAATTTTGCCATCGACCCAATTAAACAAAGTAGTGAATTTGTACTGTAGTGAAAAGAAGAAATGATGTAAAAACACTCTTTAATGGCAAAGTTGTGATTTTTGTCATAGGGAAGAAAAGAGACAAGCTGGCAATATAGGAATCTCTTCTAGGATGAACATTCTGCCGGTCTGGAAAAGAACATACTTCCTTGCTGATAGAAAGATTCTACTCTTTCATGCTCCAAACAGCTCTCTTCTAGAAAGCAGGTGCCCAGGATACATAAAGAGGAGAAGATGCAGAAGAGAAAATGCTAAAGGTGACTGAATGCCAAAAGACTTGTATAATTGATTGGCTTTCCTGGTTTTCTTCTCTATTCCAAAGCAACCTGATAGGGTGCTCCTTATGCAGAATGGGGGAACTTAAAAAGCTACTAATATGATAAGTATATACACATTGCACACACCCAGACACACACTCCCACAGTGTCATGCTCACCCTCACAGTAACTGTTTTCATGGCCCAAAATTCATGGCAATGTCACAAACAAAGAGCTTTATGTGATATGCCATATTACTTTCTATTGCTGTATAACAAATTACCACAGTCAGTGGCTTACAGTAACACAAATGTGTTATCTCCAGGGAGTGGGCCAGGAGTCCAGACAGGCTTGGCTGGGTTTACTGAAGAGTTCACTTCCAAACAGGTTGTTGGAAGAATGCATTTCCTATGACTACAGAATTGAGGTCCCTGAAAAACCACAATGAGATACTATCTCATGCCAGTCAGAAAGGCAATTATTAAAAAGTCAGGAAATAACAGATGCTGGTGAGCCTGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGAGAGTGTGGCGATTCCTCAAGGATCTAGAACAAGAAATACCATTTGACTCAGCAATCCCACTACTGGGGATATACCCAAAGGATTATTTATAAATCATTCTACTATAAAGACACATGCACACATATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAATGTGGCACATATACACCATGGAATGCTATGCAGTCATAAAAAAGAATCAGTTCATGCCCTTTGCAGAGACAAGGACAAAGCTGGAAGCCATCATTCTCAGCAAACTAACACAGGAACAGAAAACCAAACACCGCATGTTCTCACTCATAAGTGGGAGTTGAATAATGACAATACATGGACACAGTGAGGGGAACATCACACACCGGGGCCTGTTGACGGGTGGGGAGCAAGGGAAGGGAGAGCATTAGGACAAATACCTAACGCATGTGGGGCTGAAAACCTAGATGGCAGGTTGATAGGTGCAGCAAACCACCATGCCACATGCAAGAAGACAACAAATGACAACAGAGATCAACAAAGTTTTGGAAGTTGGAAAACATGGTGATGGAAACTTAGCTAAGCAGAGGATGCTTGAATCCAGATGCCTCTAGAGAAAGACCAGAAGAGGCTAGTTCACTGTGTATTATTTACTTTAAAAGTAGATGGCTACTCCGTTTCTTCCCACAAAACAGAGTTGGTAGCTTATAGCTTTTCTTTCTTTTTTTTTTTTTTTAAGACAGTATCTGGCTCTGTCACCCAGGCTGGTGTGTAGTGGCATAATCTCAGCTCATTGCAACCTCTCTCTCCCAGGCTAAAACAATCCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGCATGCACCATCACATCCAGCTAATTTTTGTGTTTTTGTAGAGACGGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGCGCTCAAGCTATCCACCTACCTCCACCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCATCACGCCTGGCCCAAAGTTGGTAGCTTTTGAAAGTAGCTAGTACTCTCTTAGAAAAATGTGTCCAGTATGGCCTGAATTTGTTGAAATGCATATAAGCTCATTAAATTAACGAGAGCAAACCACTGGAGAACATCCTTGGTACTTTTCCATGAAAAAACTTAAAGTATAATAATAATAAAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGATCTAAATAAAATTGGGCAAAAGGAAAGATATTTCAATGTAAGCTAAGATGCATCAGCATCATTTCTTTAAGCATTCTAATTCTCATACCACCATACACAATATTATAATAATGTCACTAACATGGTGAAGGTTTGGTAGTTGACAAAAATATCCAAAACTGAATAAATTTTGAATAATAATAAGCTATGAGTACCTTTTAATTTTAAGTTAACAATTCCCAAAGGCCTTAAATCAACCAGATCCAGAAAAATTTGCTTGCATTTTTTCTCATCCTCTTTATATATCAATGTATAACAGGAAAGAGGAACATCCATCTCTATTATAAACACAAAAACACTAGCTAAACTTTCACTTGGATATGTTGCTCTGTGTACAAAAAGACAATCAATGTATTAGCTGAATATTTCTCCAAGTGTGAGGACGTGGTTTTCTTTTTAGTTTTGCTTTTTATTTAAGTTCTACCAAATTCCACATTCACTGGAGATGGTTGTATAGAAGTAGTCACTACCCATTAAATACTAATAGCTTATTAGCACTATCACAAATAAAATGATATAGCAGTAGCAACAGAATAACATCTATTTCACTTTACCAACCCTAGAACCTAGCCCATTGCTTAAATTCATTAAATAAATAAATAAACAATCAAATGAACTAAAAACAAGTTGCTTCAAAAATATCTCTTCCTACATGCTTTTCACCTTAAGGAATCAAAATATAATGTTTTCTACCACCTTGGAAATAGAATAATCATGAAAAACATGAATTTAATATAGAATCTAAAAACTAAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTATCTTAAAAAGCAGATGAGTTATATGATTCAGTGTAAGTAGATTGACATTTGCAACATATGTCAATATGGACCTAAAAAATCAGCCCTCATTTGGATGTGAATATAATTAGTACTTACCAcriteria provided, single submitter-
DeletionNC_000006.12:g.(?_51959860)_(52010469_?)delPKHD1Pathogenic65182465851875267nanacriteria provided, single submitter-
single nucleotide variantNM_138694.4(PKHD1):c.11398+2T>CPKHD1Pathogenic/Likely pathogenic65151282751512827AGcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_138694.4(PKHD1):c.6809-2A>TPKHD1Likely pathogenic65176884251768842TAcriteria provided, single submitter-