Knowledge base for genomic medicine in Japanese
遺伝性圧脆弱性ニューロパチー
小児・神経疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000304.4(PMP22):c.36C>A (p.His12Gln)PMP22Pathogenic/Likely pathogenic171516400915164009GTcriteria provided, multiple submitters, no conflictsClinGen:CA119622,UniProtKB:Q01453#VAR_006359,OMIM:601097.0008
single nucleotide variantNM_000304.4(PMP22):c.47T>C (p.Leu16Pro)PMP22Pathogenic171516399815163998AGcriteria provided, single submitterClinGen:CA340784,UniProtKB:Q01453#VAR_006360,OMIM:601097.0002
DeletionNM_000304.4(PMP22):c.68del (p.Thr23fs)PMP22Pathogenic171516397715163977CGCcriteria provided, single submitter-
single nucleotide variantNM_000304.4(PMP22):c.78+1G>APMP22Pathogenic171516396615163966CTcriteria provided, single submitterClinGen:CA398271648
single nucleotide variantNM_000304.4(PMP22):c.79-2A>GPMP22Pathogenic171516251215162512TCcriteria provided, single submitter-
single nucleotide variantNM_000304.4(PMP22):c.82T>C (p.Trp28Arg)PMP22Likely pathogenic171516250715162507AGcriteria provided, single submitterClinGen:CA342724,UniProtKB:Q01453#VAR_029963,OMIM:601097.0014
single nucleotide variantNM_000304.4(PMP22):c.83G>A (p.Trp28Ter)PMP22Pathogenic171516250615162506CTcriteria provided, single submitterClinGen:CA398271192
single nucleotide variantNM_000304.4(PMP22):c.117G>A (p.Trp39Ter)PMP22Pathogenic171516247215162472CTcriteria provided, multiple submitters, no conflictsClinGen:CA10604162
DeletionNM_000304.4(PMP22):c.138del (p.Ser47fs)PMP22Pathogenic/Likely pathogenic171516245115162451AGAcriteria provided, multiple submitters, no conflictsClinGen:CA350118
DuplicationNC_000017.10:g.(?_15162411)_(15406546_?)dupPMP22Pathogenic171516241115406546nanacriteria provided, single submitter-