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)
DuplicationNM_138694.4(PKHD1):c.2180dup (p.Asn727fs)PKHD1Pathogenic/Likely pathogenic65191505351915054AATcriteria provided, multiple submitters, no conflictsClinGen:CA658683446
DeletionNM_138694.4(PKHD1):c.5065del (p.Met1689fs)PKHD1Likely pathogenic65188954351889543ATAcriteria provided, single submitterClinGen:CA658683444
single nucleotide variantNM_138694.4(PKHD1):c.602+1G>APKHD1Pathogenic/Likely pathogenic65193691251936912CTcriteria provided, multiple submitters, no conflictsClinGen:CA364434554
single nucleotide variantNM_138694.4(PKHD1):c.881-1G>APKHD1Pathogenic/Likely pathogenic65192984951929849CTcriteria provided, multiple submitters, no conflictsClinGen:CA364429821
DeletionNM_138694.4(PKHD1):c.10998del (p.Ile3666fs)PKHD1Pathogenic65152392651523926CACcriteria provided, single submitterClinGen:CA658796775
DeletionNM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs)PKD1Pathogenic1621404512140452GCAGcriteria provided, single submitterClinGen:CA658798502
DuplicationNM_001009944.3(PKD1):c.6398dup (p.Val2134fs)PKD1Pathogenic1621587692158770GGAcriteria provided, single submitterClinGen:CA658798515
DuplicationNM_001009944.3(PKD1):c.10745dup (p.Val3584fs)PKD1Pathogenic1621438872143888CCGcriteria provided, multiple submitters, no conflictsClinGen:CA620705424
single nucleotide variantNM_001009944.3(PKD1):c.2854-2A>GPKD1Pathogenic1621632952163295TCcriteria provided, multiple submitters, no conflictsClinGen:CA394385866
DeletionNM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)PKD1Pathogenic1621415722141573CGTCcriteria provided, multiple submitters, no conflictsClinGen:CA658798504